hgnc_id
string
symbol
string
name
string
locus_group
string
locus_type
string
status
string
location
string
alias_symbol
sequence
alias_name
sequence
prev_symbol
sequence
prev_name
sequence
gene_group
sequence
gene_group_id
sequence
date_approved_reserved
string
date_symbol_changed
string
date_name_changed
string
date_modified
string
entrez_id
string
ensembl_gene_id
string
vega_id
string
ucsc_id
string
ena
sequence
refseq_accession
sequence
ccds_id
sequence
uniprot_ids
sequence
pubmed_id
sequence
mgd_id
sequence
rgd_id
sequence
lsdb
sequence
cosmic
string
omim_id
sequence
bioparadigms_slc
string
orphanet
float64
merops
string
iuphar
string
cd
string
enzyme_id
sequence
agr
string
mane_select
sequence
gencc
string
uuid
string
rna_central_id
sequence
curator_notes
sequence
HGNC:9141
PMVK
phosphomevalonate kinase
protein-coding gene
gene with protein product
Approved
1q21.3
[ "PMK", "PMKA", "HUMPMKI" ]
null
null
null
null
null
1999-07-09
null
null
2023-01-20
10654
ENSG00000163344
OTTHUMG00000037415
uc001ffq.4
[ "L77213" ]
[ "NM_006556" ]
[ "CCDS1073" ]
[ "Q15126" ]
[ 8663599, 10191291 ]
[ "MGI:1915853" ]
[ "RGD:1310812" ]
null
null
[ "607622" ]
null
444,563
null
objectId:641
null
[ "2.7.4.2" ]
HGNC:9141
[ "ENST00000368467.4", "NM_006556.4" ]
HGNC:9141
abf4ee40-08d2-404d-9534-b17040e821b6
null
null
HGNC:21484
MCM9
minichromosome maintenance 9 homologous recombination repair factor
protein-coding gene
gene with protein product
Approved
6q22.31
[ "MGC35304", "dJ329L24.3", "FLJ20170" ]
null
[ "MCMDC1", "C6orf61" ]
[ "minichromosome maintenance deficient domain containing 1", "chromosome 6 open reading frame 61", "minichromosome maintenance complex component 9" ]
[ "MCM family" ]
[ 1085 ]
2003-06-18
2007-04-04
2015-08-25
2023-01-20
254394
ENSG00000111877
OTTHUMG00000015468
uc063qzj.1
[ "BC031658" ]
[ "NM_153255" ]
[ "CCDS5121", "CCDS56447" ]
[ "Q9NXL9" ]
[ 16226853, 15850810, 16495042 ]
[ "MGI:1918817" ]
[ "RGD:1560557" ]
null
null
[ "610098" ]
null
448,630
null
null
null
null
HGNC:21484
[ "ENST00000619706.5", "NM_017696.3" ]
HGNC:21484
ceb20fe9-9be6-416f-8fea-db98887324ca
null
null
HGNC:15861
DHX35
DEAH-box helicase 35
protein-coding gene
gene with protein product
Approved
20q11.23-q12
[ "FLJ22759", "KAIA0875" ]
null
[ "C20orf15", "DDX35" ]
[ "DEAD/H (Asp-Glu-Ala-Asp/His) box polypeptide 35", "DEAH (Asp-Glu-Ala-His) box polypeptide 35" ]
[ "DEAH-box helicases", "Spliceosomal C complex" ]
[ 500, 1510 ]
2001-11-27
2003-06-13
2016-01-07
2023-01-20
60625
ENSG00000101452
OTTHUMG00000032463
uc002xjh.4
[ "AK026412" ]
[ "NM_021931" ]
[ "CCDS13310", "CCDS54463" ]
[ "Q9H5Z1" ]
null
[ "MGI:1918965" ]
[ "RGD:1311165" ]
null
null
null
null
null
null
null
null
null
HGNC:15861
[ "ENST00000252011.8", "NM_021931.4" ]
null
4dd0f447-2041-4808-9cb8-6f47551572df
null
null
HGNC:6201
JTB
jumping translocation breakpoint
protein-coding gene
gene with protein product
Approved
1q21.3
[ "hJT", "PAR" ]
[ "prostate androgen-regulated gene" ]
null
null
null
null
2000-01-31
null
null
2023-01-20
10899
ENSG00000143543
OTTHUMG00000036590
uc001fds.4
[ "AB016488" ]
[ "NM_006694" ]
[ "CCDS1057" ]
[ "O76095" ]
[ 10321732, 27751357, 22079049 ]
[ "MGI:1346082" ]
[ "RGD:2942" ]
null
null
[ "604671" ]
null
null
null
null
null
null
HGNC:6201
[ "ENST00000271843.9", "NM_006694.4" ]
null
50fb9258-a49a-45dc-9fee-622e37c71fbb
null
null
HGNC:9571
PSMF1
proteasome inhibitor subunit 1
protein-coding gene
gene with protein product
Approved
20p13
[ "PI31" ]
[ "proteasome inhibitor hP131 subunit" ]
null
[ "proteasome (prosome, macropain) inhibitor subunit 1 (PI31)" ]
[ "Proteasome" ]
[ 690 ]
1999-04-15
null
2015-08-12
2023-01-20
9491
ENSG00000125818
OTTHUMG00000031656
uc002wel.4
[ "D88378" ]
[ "NM_178578" ]
[ "CCDS13010", "CCDS82589" ]
[ "Q92530" ]
[ 10363639 ]
[ "MGI:1346072" ]
[ "RGD:1587528" ]
null
null
[ "617858" ]
null
null
null
null
null
null
HGNC:9571
[ "ENST00000335877.11", "NM_006814.5" ]
null
c7ea0693-4dfd-4564-b3d1-a0883f4ad5ac
null
null
HGNC:23990
STAC2
SH3 and cysteine rich domain 2
protein-coding gene
gene with protein product
Approved
17q12
[ "24b2" ]
null
null
null
[ "SH3 and cysteine rich domain family" ]
[ 2308 ]
2004-05-19
null
null
2024-01-17
342667
ENSG00000141750
OTTHUMG00000179039
uc002hrs.4
[ "AJ608762" ]
[ "NM_198993" ]
[ "CCDS11335" ]
[ "Q6ZMT1" ]
[ 25548159, 29363593 ]
[ "MGI:2144518" ]
[ "RGD:1305548" ]
null
null
null
null
null
null
null
null
null
HGNC:23990
[ "ENST00000333461.6", "NM_198993.5" ]
null
8206483b-f2b4-41b4-af32-6d5f05cd38e4
null
null
HGNC:10683
SDHD
succinate dehydrogenase complex subunit D
protein-coding gene
gene with protein product
Approved
11q23.1
[ "cybS" ]
[ "small subunit of cytochrome b" ]
[ "PGL", "PGL1" ]
[ "succinate dehydrogenase complex, subunit D, integral membrane protein" ]
[ "Mitochondrial complex II: succinate dehydrogenase subunits" ]
[ 641 ]
1997-10-21
null
2016-01-28
2023-01-20
6392
ENSG00000204370
OTTHUMG00000166997
uc001pmz.5
[ "AB006202" ]
[ "NM_003002" ]
null
[ "O14521" ]
[ 9533030, 1301144 ]
[ "MGI:1914175" ]
[ "RGD:735231" ]
[ "SDHD @ LOVD|http://www.LOVD.nl/SDHD", "Global Variome shared LOVD|https://databases.lovd.nl/shared/genes/SDHD", "LRG_9|http://ftp.ebi.ac.uk/pub/databases/lrgex/LRG_9.xml" ]
SDHD
[ "602690" ]
null
118,561
null
null
null
null
HGNC:10683
[ "ENST00000375549.8", "NM_003002.4" ]
HGNC:10683
a047a819-acfa-4406-8689-ec43b4fd19a1
null
null
HGNC:12563
UMPS
uridine monophosphate synthetase
protein-coding gene
gene with protein product
Approved
3q21.2
null
[ "orotate phosphoribosyl transferase and orotidine-5'-decarboxylase" ]
null
null
[ "MicroRNA protein coding host genes" ]
[ 1691 ]
1986-01-01
null
2008-02-04
2023-01-20
7372
ENSG00000114491
OTTHUMG00000159431
uc003ehl.5
null
[ "NM_000373" ]
[ "CCDS3029" ]
[ "P11172" ]
[ 2767686 ]
[ "MGI:1298388" ]
[ "RGD:1311908" ]
null
null
[ "613891" ]
null
120,414
null
null
null
[ "2.4.2.10", "4.1.1.23" ]
HGNC:12563
[ "ENST00000232607.7", "NM_000373.4" ]
HGNC:12563
a5555112-cf2f-42ea-bf1a-9c01029b96ae
null
null
HGNC:3582
FANCA
FA complementation group A
protein-coding gene
gene with protein product
Approved
16q24.3
[ "FAA", "FA-H", "FAH" ]
null
[ "FACA", "FANCH" ]
[ "Fanconi anemia complementation group A" ]
[ "FA complementation groups", "FA core complex" ]
[ 548, 1751 ]
1995-12-22
null
2018-05-09
2023-01-20
2175
ENSG00000187741
OTTHUMG00000173049
uc002fou.2
[ "Z83067" ]
[ "NM_000135" ]
null
[ "O15360" ]
[ 7581462, 9382107 ]
[ "MGI:1341823" ]
[ "RGD:1311380" ]
[ "Fanconi Anaemia Mutation Database|http://www2.rockefeller.edu/fanconi/", "Global Variome shared LOVD|https://databases.lovd.nl/shared/genes/FANCA", "LRG_495|http://ftp.ebi.ac.uk/pub/databases/lrgex/LRG_495.xml" ]
FANCA
[ "607139" ]
null
121,693
null
null
null
null
HGNC:3582
[ "ENST00000389301.8", "NM_000135.4" ]
HGNC:3582
6f7047de-b0cd-436c-9518-cf587cd5095e
null
null
HGNC:8988
PIN1
peptidylprolyl cis/trans isomerase, NIMA-interacting 1
protein-coding gene
gene with protein product
Approved
19p13
[ "dod" ]
[ "protein interacting with never in mitosis A1", "parvulin PIN1" ]
null
[ "protein (peptidyl-prolyl cis/trans isomerase) NIMA-interacting 1" ]
[ "Parvulins" ]
[ 920 ]
1996-12-16
null
2008-03-25
2023-01-20
5300
ENSG00000127445
OTTHUMG00000180388
uc002mml.3
null
[ "NM_006221" ]
[ "CCDS12220" ]
[ "Q13526" ]
[ 8606777 ]
[ "MGI:1346036" ]
[ "RGD:1310299" ]
[ "LRG_847|http://ftp.ebi.ac.uk/pub/databases/lrgex/LRG_847.xml" ]
null
[ "601052" ]
null
null
null
objectId:3171
null
null
HGNC:8988
[ "ENST00000247970.9", "NM_006221.4" ]
null
0ce903c5-b19b-459a-a14a-0c3ec9d9a303
null
null
HGNC:6743
CAPRIN1
cell cycle associated protein 1
protein-coding gene
gene with protein product
Approved
11p13
[ "caprin-1", "RNG105" ]
[ "cytoplasmic activation/proliferation-associated protein-1" ]
[ "M11S1", "GPIAP1" ]
[ "membrane component, chromosome 11, surface marker 1", "GPI-anchored membrane protein 1" ]
null
null
1995-12-18
2007-03-27
2007-03-27
2023-01-20
4076
ENSG00000135387
OTTHUMG00000166248
uc001mvh.2
[ "BC001731" ]
[ "NM_005898" ]
[ "CCDS31453", "CCDS31454" ]
[ "Q14444" ]
[ 7657653, 16177067, 17210633, 14764709, 15471883 ]
[ "MGI:1858234" ]
[ "RGD:1305707" ]
null
null
[ "601178" ]
null
null
null
null
null
null
HGNC:6743
[ "ENST00000341394.9", "NM_005898.5" ]
HGNC:6743
02292dd6-ce1e-4cb2-81e0-fdad6935531a
null
null
HGNC:25682
FAM106A
family with sequence similarity 106 member A
non-coding RNA
RNA, long non-coding
Approved
17p11.2
[ "FLJ11800" ]
null
null
[ "family with sequence similarity 106, member A" ]
[ "Long non-coding RNAs with FAM root symbol" ]
[ 1993 ]
2006-01-12
null
2015-11-18
2023-03-15
80039
ENSG00000273018
OTTHUMG00000179516
uc002gtz.3
[ "AK021862" ]
[ "NR_170998" ]
null
[ "Q4KMX7" ]
[ 14702039 ]
null
null
null
null
null
null
null
null
null
null
null
HGNC:25682
null
null
c060d96f-1677-4d6f-bce6-842d9b23ee49
[ "URS000075F0DD" ]
null
HGNC:9884
RB1
RB transcriptional corepressor 1
protein-coding gene
gene with protein product
Approved
13q14.2
[ "RB", "PPP1R130" ]
[ "prepro-retinoblastoma-associated protein", "protein phosphatase 1, regulatory subunit 130" ]
[ "OSRC" ]
[ "osteosarcoma", "retinoblastoma 1" ]
[ "Receptor ligands" ]
[ 542 ]
1986-01-01
null
2016-05-24
2023-01-20
5925
ENSG00000139687
OTTHUMG00000016900
uc001vcb.4
[ "M15400" ]
[ "NM_000321" ]
[ "CCDS31973" ]
[ "P06400" ]
[ 1857421, 15057823 ]
[ "MGI:97874" ]
[ "RGD:3540" ]
[ "RB1-LSDB|http://rb1-lovd.d-lohmann.de/home.php?select_db=RB1", "LRG_517|http://ftp.ebi.ac.uk/pub/databases/lrgex/LRG_517.xml" ]
RB1
[ "614041" ]
null
118,239
null
ligandId:5253
null
null
HGNC:9884
[ "ENST00000267163.6", "NM_000321.3" ]
HGNC:9884
6303f2b5-2189-41b4-9ea1-7788d53ddf76
null
null
HGNC:19701
CNKSR2
connector enhancer of kinase suppressor of Ras 2
protein-coding gene
gene with protein product
Approved
Xp22.12
[ "KIAA0902", "CNK2", "KSR2" ]
null
null
null
[ "Pleckstrin homology domain containing", "Sterile alpha motif domain containing", "PDZ domain containing" ]
[ 682, 760, 1220 ]
2004-05-27
null
null
2023-01-20
22866
ENSG00000149970
OTTHUMG00000021233
uc011mjo.3
[ "AB020709" ]
[ "NM_014927" ]
null
[ "Q8WXI2" ]
null
[ "MGI:2661175" ]
[ "RGD:708454" ]
[ "Global Variome shared LOVD|https://databases.lovd.nl/shared/genes/CNKSR2" ]
null
[ "300724" ]
null
449,961
null
null
null
null
HGNC:19701
[ "ENST00000379510.5", "NM_014927.5" ]
HGNC:19701
ede2a473-6529-4e99-b519-9a0547dc59f8
null
null
HGNC:7224
MPV17
mitochondrial inner membrane protein MPV17
protein-coding gene
gene with protein product
Approved
2p23.3
[ "SYM1" ]
[ "glomerulosclerosis" ]
null
[ "MpV17 transgene, murine homolog, glomerulosclerosis" ]
null
null
1994-03-21
null
2018-08-15
2023-01-20
4358
ENSG00000115204
OTTHUMG00000097074
uc002rjs.4
null
[ "NM_002437" ]
[ "CCDS1748" ]
[ "P39210" ]
[ 8281143, 16582910 ]
[ "MGI:97138" ]
[ "RGD:1310512" ]
null
null
[ "137960" ]
null
123,470
null
null
null
null
HGNC:7224
[ "ENST00000380044.6", "NM_002437.5" ]
HGNC:7224
eea097c8-474e-469e-ac92-fdf610015849
null
null
HGNC:25981
TOR4A
torsin family 4 member A
protein-coding gene
gene with protein product
Approved
9q34.3
[ "FLJ20245" ]
null
[ "C9orf167" ]
[ "chromosome 9 open reading frame 167", "torsin family 4, member A" ]
[ "Torsins" ]
[ 1831 ]
2007-02-08
2012-04-03
2016-01-25
2023-01-20
54863
ENSG00000198113
OTTHUMG00000131779
uc004cmn.4
[ "AK023361" ]
[ "NM_017723" ]
[ "CCDS7041" ]
[ "Q9NXH8" ]
null
[ "MGI:2442720" ]
[ "RGD:1308019" ]
null
null
null
null
null
null
null
null
null
HGNC:25981
[ "ENST00000357503.3", "NM_017723.3" ]
null
e46a6c88-929d-4ef8-96f3-940d85a2fd1c
null
null
HGNC:22474
MED13
mediator complex subunit 13
protein-coding gene
gene with protein product
Approved
17q23.2
[ "KIAA0593", "TRAP240" ]
null
[ "THRAP1" ]
[ "thyroid hormone receptor associated protein 1" ]
[ "Mediator complex" ]
[ 1061 ]
2004-03-10
2007-07-30
2007-07-30
2023-01-20
9969
ENSG00000108510
OTTHUMG00000179251
uc002izo.3
[ "AB011165" ]
[ "NM_005121" ]
[ "CCDS42366" ]
[ "Q9UHV7" ]
[ 1019863 ]
[ "MGI:3029632" ]
[ "RGD:1304829" ]
null
null
[ "603808" ]
null
null
null
null
null
null
HGNC:22474
[ "ENST00000397786.7", "NM_005121.3" ]
HGNC:22474
aec2aebf-e016-4ddc-a4fb-c38268681610
null
null
HGNC:10839
SHBG
sex hormone binding globulin
protein-coding gene
gene with protein product
Approved
17p13.1
[ "ABP", "TEBG", "MGC126834", "MGC138391" ]
[ "androgen binding protein" ]
null
[ "sex hormone-binding globulin" ]
null
null
1990-03-14
null
2016-04-04
2023-01-20
6462
ENSG00000129214
OTTHUMG00000108153
uc002gie.4
null
[ "NM_001040" ]
null
[ "P04278" ]
[ 2587256 ]
[ "MGI:98295" ]
[ "RGD:3671" ]
null
null
[ "182205" ]
null
null
null
null
null
null
HGNC:10839
[ "ENST00000380450.9", "NM_001040.5" ]
null
33acc57a-71c4-4856-bdbc-f13781b2e547
null
null
HGNC:29666
MTFMT
mitochondrial methionyl-tRNA formyltransferase
protein-coding gene
gene with protein product
Approved
15q22.31
[ "FMT1" ]
null
null
null
null
null
2005-07-19
2005-08-09
null
2023-01-20
123263
ENSG00000103707
OTTHUMG00000172371
uc002aof.5
[ "AK055688" ]
[ "NM_139242" ]
[ "CCDS45280" ]
[ "Q96DP5" ]
[ 9614118 ]
[ "MGI:1916856" ]
[ "RGD:1309462" ]
null
null
[ "611766" ]
null
299,657
null
null
null
[ "2.1.2.9" ]
HGNC:29666
[ "ENST00000220058.9", "NM_139242.4" ]
HGNC:29666
69b4a5b8-b3ea-4f71-a6f5-53eeb38a6f03
null
null
HGNC:11999
TP53BP1
tumor protein p53 binding protein 1
protein-coding gene
gene with protein product
Approved
15q15.3
[ "53BP1", "p202", "TDRD30" ]
null
null
[ "tumor protein p53-binding protein, 1" ]
[ "Tudor domain containing" ]
[ 780 ]
2000-06-24
null
2007-08-02
2023-01-20
7158
ENSG00000067369
OTTHUMG00000059757
uc001zrs.4
[ "U09477" ]
[ "NM_001141979" ]
null
[ "Q12888" ]
[ 8016121, 9748285 ]
[ "MGI:1351320" ]
[ "RGD:1308039" ]
null
null
[ "605230" ]
null
null
null
null
null
null
HGNC:11999
[ "ENST00000382044.9", "NM_001141980.3" ]
null
a38d2322-3b58-4248-9f67-eae077c94ab7
null
null
HGNC:3587
FANCF
FA complementation group F
protein-coding gene
gene with protein product
Approved
11p14.3
[ "FAF" ]
null
null
[ "Fanconi anemia complementation group F" ]
[ "FA complementation groups", "FA core complex" ]
[ 548, 1751 ]
1998-08-26
null
2018-05-09
2023-01-20
2188
ENSG00000183161
OTTHUMG00000166070
uc001mql.2
null
[ "NM_022725" ]
[ "CCDS7857" ]
[ "Q9NPI8" ]
[ 9382107 ]
[ "MGI:3689889" ]
[ "RGD:1561456" ]
[ "Fanconi Anaemia Mutation Database|http://www2.rockefeller.edu/fanconi/", "Global Variome shared LOVD|https://databases.lovd.nl/shared/genes/FANCF", "LRG_527|http://ftp.ebi.ac.uk/pub/databases/lrgex/LRG_527.xml" ]
FANCF
[ "613897" ]
null
121,719
null
null
null
null
HGNC:3587
[ "ENST00000327470.6", "NM_022725.4" ]
HGNC:3587
0a7889fa-e413-427d-b8c5-efd2258ab48c
null
null
HGNC:1148
BUB1
BUB1 mitotic checkpoint serine/threonine kinase
protein-coding gene
gene with protein product
Approved
2q13
[ "hBUB1", "BUB1A" ]
null
[ "BUB1L" ]
[ "budding uninhibited by benzimidazoles 1 (yeast homolog)", "budding uninhibited by benzimidazoles 1 homolog (yeast)" ]
null
null
1997-08-18
null
2016-01-15
2023-01-20
699
ENSG00000169679
OTTHUMG00000153638
uc002tgc.5
[ "AF046078" ]
[ "NM_004336" ]
null
[ "O43683" ]
[ 9441741 ]
[ "MGI:1100510" ]
[ "RGD:1311707" ]
null
null
[ "602452" ]
null
367,084
null
objectId:1949
null
null
HGNC:1148
[ "ENST00000302759.11", "NM_004336.5" ]
HGNC:1148
da597a4b-75a5-4d5b-92f0-98ca2f0a918d
null
null
HGNC:16245
PARD6B
par-6 family cell polarity regulator beta
protein-coding gene
gene with protein product
Approved
20q13.13
[ "PAR-6B" ]
null
null
[ "par-6 (partitioning defective 6, C.elegans) homolog beta", "par-6 partitioning defective 6 homolog beta (C. elegans)" ]
[ "PDZ domain containing" ]
[ 1220 ]
2001-08-01
null
2013-08-28
2023-01-20
84612
ENSG00000124171
OTTHUMG00000032732
uc002xvo.3
[ "AB044555" ]
[ "NM_032521" ]
[ "CCDS33485" ]
[ "Q9BYG5" ]
[ 11260256 ]
[ "MGI:2135605" ]
[ "RGD:1308205" ]
null
null
[ "608975" ]
null
null
null
null
null
null
HGNC:16245
[ "ENST00000371610.7", "NM_032521.3" ]
null
f518108a-cd0c-4737-b398-7531593c5f49
null
null
HGNC:12441
TYMS
thymidylate synthetase
protein-coding gene
gene with protein product
Approved
18p11.32
[ "Tsase", "TMS", "HsT422" ]
null
[ "TS" ]
null
null
null
1990-09-10
null
null
2023-01-20
7298
ENSG00000176890
OTTHUMG00000131473
uc010dka.2
[ "X02308" ]
[ "NM_001071" ]
null
[ "P04818" ]
null
[ "MGI:98878" ]
[ "RGD:3921" ]
[ "LRG_783|http://ftp.ebi.ac.uk/pub/databases/lrgex/LRG_783.xml" ]
null
[ "188350" ]
null
241,969
null
objectId:2642
null
[ "2.1.1.45" ]
HGNC:12441
[ "ENST00000323274.15", "NM_001071.4" ]
null
c667dcf6-a2c1-48a7-ae57-aa4cc4023a2e
null
null
HGNC:16209
RPRD1B
regulation of nuclear pre-mRNA domain containing 1B
protein-coding gene
gene with protein product
Approved
20q11.23
[ "dJ1057B20.2", "DKFZp434P0735", "CREPT", "FLJ44520", "NET60", "Kub5-Hera", "K-H" ]
[ "cell-cycle related and expression-elevated protein in tumor", "Ku70-binding protein 5-Hera" ]
[ "C20orf77" ]
[ "chromosome 20 open reading frame 77" ]
null
null
2001-07-17
2008-07-28
2008-08-15
2023-01-20
58490
ENSG00000101413
OTTHUMG00000032434
uc002xho.5
[ "AL109823" ]
[ "NM_021215" ]
[ "CCDS13301" ]
[ "Q9NQG5" ]
[ 22231121 ]
[ "MGI:1917720" ]
[ "RGD:1304782" ]
null
null
[ "614694" ]
null
null
null
null
null
null
HGNC:16209
[ "ENST00000373433.9", "NM_021215.4" ]
null
a742b1b7-2873-4a39-8c4c-67e7c1f2a904
null
null
HGNC:5468
IGFALS
insulin like growth factor binding protein acid labile subunit
protein-coding gene
gene with protein product
Approved
16p13.3
[ "ALS" ]
null
null
[ "insulin-like growth factor binding protein, acid labile subunit" ]
null
null
1997-11-28
null
2015-11-23
2023-01-20
3483
ENSG00000099769
OTTHUMG00000128638
uc002cmy.4
[ "M86826" ]
[ "NM_001146006" ]
[ "CCDS10446", "CCDS53982" ]
[ "P35858" ]
[ 1379671, 16114275 ]
[ "MGI:107973" ]
[ "RGD:68429" ]
[ "Global Variome shared LOVD|https://databases.lovd.nl/shared/genes/IGFALS" ]
null
[ "601489" ]
null
159,982
null
null
null
null
HGNC:5468
[ "ENST00000215539.4", "NM_004970.3" ]
HGNC:5468
22c1142b-9019-4407-9b14-255ca573ed4d
null
null
HGNC:29249
FBXO42
F-box protein 42
protein-coding gene
gene with protein product
Approved
1p36.13
[ "KIAA1332", "Fbx42" ]
null
null
null
[ "F-boxes other" ]
[ 560 ]
2004-06-15
null
null
2023-01-20
54455
ENSG00000037637
OTTHUMG00000002218
uc001ayg.4
[ "BC063864" ]
[ "NM_018994" ]
[ "CCDS30613" ]
[ "Q6P3S6" ]
[ 10718198 ]
[ "MGI:1924992" ]
[ "RGD:1304787" ]
null
null
[ "609109" ]
null
null
null
null
null
null
HGNC:29249
[ "ENST00000375592.8", "NM_018994.3" ]
null
71f7b405-bef0-49a9-9df2-4495231b6fe3
null
null
HGNC:30631
TADA1
transcriptional adaptor 1
protein-coding gene
gene with protein product
Approved
1q24.1
[ "STAF42", "ADA1", "hADA1", "HFI1" ]
null
[ "TADA1L" ]
[ "transcriptional adaptor 1 (HFI1 homolog, yeast)-like", "transcriptional adaptor 1 (HFI1 homolog, yeast)" ]
[ "SAGA complex" ]
[ 1059 ]
2005-06-10
2009-10-02
2009-10-02
2023-01-20
117143
ENSG00000152382
OTTHUMG00000034321
uc001gdw.4
[ "BC015401" ]
[ "NM_053053" ]
[ "CCDS1255" ]
[ "Q96BN2" ]
[ 11564863 ]
[ "MGI:1196415" ]
[ "RGD:1306774" ]
null
null
[ "612763" ]
null
null
null
null
null
null
HGNC:30631
[ "ENST00000367874.5", "NM_053053.4" ]
null
5b2623c7-5d77-478c-a809-ff35f76b6242
null
null
HGNC:9826
RAD54L
RAD54 like
protein-coding gene
gene with protein product
Approved
1p34.1
[ "hHR54", "hRAD54", "RAD54A" ]
null
null
[ "RAD54 (S.cerevisiae)-like", "RAD54 like (S. cerevisiae)" ]
[ "SNF2 related family" ]
[ 1190 ]
1998-11-04
null
2017-08-08
2023-01-20
8438
ENSG00000085999
OTTHUMG00000007772
uc009vye.2
[ "X97795" ]
[ "NM_003579" ]
[ "CCDS532" ]
[ "Q92698" ]
[ 8805304 ]
[ "MGI:894697" ]
[ "RGD:1310600" ]
[ "LRG_1414|http://ftp.ebi.ac.uk/pub/databases/lrgex/LRG_1414.xml" ]
null
[ "603615" ]
null
437,664
null
null
null
null
HGNC:9826
[ "ENST00000371975.9", "NM_003579.4" ]
null
9afbb9bf-2df3-495c-888e-b5c961aa7439
null
null
HGNC:24327
VGLL3
vestigial like family member 3
protein-coding gene
gene with protein product
Approved
3p12.1
[ "VGL-3" ]
null
null
[ "vestigial like 3 (Drosophila)", "vestigial-like family member 3" ]
[ "Vestigial like family" ]
[ 367 ]
2005-12-30
null
2015-11-23
2023-01-20
389136
ENSG00000206538
OTTHUMG00000158984
uc003dqn.4
[ "AF099505" ]
[ "NM_016206" ]
[ "CCDS43110", "CCDS82807" ]
[ "A8MV65" ]
[ 12376544 ]
[ "MGI:1920819" ]
[ "RGD:1560030" ]
null
null
[ "609980" ]
null
null
null
null
null
null
HGNC:24327
[ "ENST00000398399.7", "NM_016206.4" ]
null
61b910b1-3d7e-4ba1-96f2-84c99b785f06
null
null
HGNC:20292
CAB39
calcium binding protein 39
protein-coding gene
gene with protein product
Approved
2q37.1
[ "CGI-66", "MO25" ]
null
null
null
[ "Armadillo like helical domain containing" ]
[ 1492 ]
2004-07-02
null
null
2023-07-26
51719
ENSG00000135932
OTTHUMG00000133220
uc002vqx.4
[ "AF113536" ]
[ "NM_016289" ]
[ "CCDS2478" ]
[ "Q9Y376" ]
[ 8418809, 14730349 ]
[ "MGI:107438" ]
[ "RGD:1306390" ]
null
null
[ "612174" ]
null
null
null
null
null
null
HGNC:20292
[ "ENST00000258418.10", "NM_016289.4" ]
null
c4f4a894-9b0e-4f68-a0a0-f132937b4ac1
null
null
HGNC:12687
VHL
von Hippel-Lindau tumor suppressor
protein-coding gene
gene with protein product
Approved
3p25.3
[ "VHL1" ]
null
null
[ "von Hippel-Lindau syndrome", "von Hippel-Lindau tumor suppressor, E3 ubiquitin protein ligase" ]
null
null
1986-01-01
null
2016-03-02
2023-01-20
7428
ENSG00000134086
OTTHUMG00000128668
uc003bvc.4
[ "L15409" ]
[ "NM_000551" ]
null
[ "P40337" ]
[ 9671762 ]
[ "MGI:103223" ]
[ "RGD:3960" ]
[ "UMD Locus Specific Databases|http://www.umd.be/", "LRG_322|http://ftp.ebi.ac.uk/pub/databases/lrgex/LRG_322.xml" ]
VHL
[ "608537" ]
null
120,467
null
objectId:3204
null
null
HGNC:12687
[ "ENST00000256474.3", "NM_000551.4" ]
HGNC:12687
50929358-41f1-430c-af5a-d727a5bd6a3e
null
null
HGNC:17034
TUSC2
tumor suppressor 2, mitochondrial calcium regulator
protein-coding gene
gene with protein product
Approved
3p21.31
[ "FUS1", "PAP", "C3orf11" ]
null
[ "PDAP2" ]
[ "PDGFA associated protein 2", "tumor suppressor candidate 2" ]
null
null
2003-09-25
2004-01-21
2018-02-23
2023-01-20
11334
ENSG00000114383
OTTHUMG00000156877
uc003czy.2
[ "AF055479" ]
[ "NM_007275" ]
[ "CCDS2819" ]
[ "O75896" ]
[ 8780057, 11593436 ]
[ "MGI:1931086" ]
[ "RGD:1561664" ]
null
null
[ "607052" ]
null
null
null
null
null
null
HGNC:17034
[ "ENST00000232496.5", "NM_007275.3" ]
null
e0126842-7a76-4abe-8b75-6309735e64eb
null
null
HGNC:23147
UNC13D
unc-13 homolog D
protein-coding gene
gene with protein product
Approved
17q25.3
[ "Munc13-4" ]
null
null
[ "unc-13 homolog D (C. elegans)" ]
[ "UNC13 homologs" ]
[ 836 ]
2003-10-16
null
2016-04-05
2024-01-16
201294
ENSG00000092929
OTTHUMG00000179895
uc002jpp.5
[ "AK024474" ]
[ "NM_199242" ]
[ "CCDS11730" ]
[ "Q70J99" ]
[ 17993578 ]
[ "MGI:1917700" ]
[ "RGD:628593" ]
[ "UNC13Dbase: Mutation registry for Familial hemophagocytic lymphohistiocytosis 3|http://structure.bmc.lu.se/idbase/UNC13Dbase/", "CCHMC-BMI & UC Hearing Loss Mutation Database|https://research.cchmc.org/LOVD/home.php?select_db=UNC13D", "LRG_122|http://ftp.ebi.ac.uk/pub/databases/lrgex/LRG_122.xml" ]
null
[ "608897" ]
null
120,416
null
null
null
null
HGNC:23147
[ "ENST00000207549.9", "NM_199242.3" ]
HGNC:23147
9df77aac-e404-4007-92ad-897f72a70930
null
null
HGNC:18017
NUP160
nucleoporin 160
protein-coding gene
gene with protein product
Approved
11p11.2
[ "KIAA0197", "FLJ22583" ]
[ "Nuclear pore complex protein Nup160" ]
null
[ "nucleoporin 160kDa" ]
[ "Nucleoporins" ]
[ 1051 ]
2002-01-18
null
2016-06-01
2023-06-19
23279
ENSG00000030066
OTTHUMG00000166534
uc001ngm.4
[ "D83781" ]
[ "NM_015231" ]
[ "CCDS31484", "CCDS81567" ]
[ "Q12769" ]
[ 11684705 ]
[ "MGI:1926227" ]
[ "RGD:1311052" ]
null
null
[ "607614" ]
null
null
null
null
null
null
HGNC:18017
[ "ENST00000378460.7", "NM_015231.3" ]
HGNC:18017
bea38402-fcc3-4995-a241-6265f0a379ce
null
null
HGNC:13607
FBXW11
F-box and WD repeat domain containing 11
protein-coding gene
gene with protein product
Approved
5q35.1
[ "KIAA0696", "Fbw1b", "BTRCP2", "BTRC2", "Hos", "Fbw11" ]
null
[ "FBXW1B" ]
[ "F-box and WD-40 domain protein 1B", "F-box and WD-40 domain protein 11" ]
[ "WD repeat domain containing", "F-box and WD repeat domain containing" ]
[ 362, 559 ]
2000-09-27
2004-06-16
2007-02-08
2023-01-20
23291
ENSG00000072803
OTTHUMG00000163267
uc003mbl.2
[ "AB014596" ]
[ "NM_012300" ]
null
[ "Q9UKB1" ]
[ 10531035, 10694485 ]
[ "MGI:2144023" ]
[ "RGD:1309121" ]
null
null
[ "605651" ]
null
null
null
null
null
null
HGNC:13607
[ "ENST00000517395.6", "NM_001378974.1" ]
HGNC:13607
79ad3c1d-e16a-43f0-b26a-0e7af238b35e
null
null
HGNC:4113
GAK
cyclin G associated kinase
protein-coding gene
gene with protein product
Approved
4p16.3
[ "DNAJC26" ]
[ "auxilin-2" ]
null
null
[ "DNAJ (HSP40) heat shock proteins", "C2 tensin-type domain containing" ]
[ 584, 837 ]
1997-01-09
null
null
2023-01-20
2580
ENSG00000178950
OTTHUMG00000088301
uc003gbm.6
[ "D88435" ]
[ "NM_005255" ]
null
[ "O14976" ]
[ 9299234 ]
[ "MGI:2442153" ]
[ "RGD:621589" ]
null
null
[ "602052" ]
null
null
null
objectId:2027
null
null
HGNC:4113
[ "ENST00000314167.9", "NM_005255.4" ]
null
e2827137-82f7-4864-9b8a-14107b34eec4
null
null
HGNC:4606
PDIA3
protein disulfide isomerase family A member 3
protein-coding gene
gene with protein product
Approved
15q15.3
[ "P58", "ERp61", "ERp57", "ERp60", "GRP57", "PI-PLC", "HsT17083" ]
null
[ "GRP58" ]
[ "glucose regulated protein, 58kDa", "protein disulfide isomerase-associated 3", "protein disulfide isomerase family A, member 3" ]
[ "Protein disulfide isomerases" ]
[ 692 ]
1997-06-09
2005-03-03
2015-11-16
2023-01-20
2923
ENSG00000167004
OTTHUMG00000044444
uc001zsu.4
null
[ "NM_005313" ]
[ "CCDS10101" ]
[ "P30101" ]
[ 8974399 ]
[ "MGI:95834" ]
[ "RGD:68430" ]
null
null
[ "602046" ]
null
null
null
objectId:3293
null
[ "5.3.4.1" ]
HGNC:4606
[ "ENST00000300289.10", "NM_005313.5" ]
null
b3abf99f-c531-4b1b-b136-37b3daea91e4
null
null
HGNC:12607
USP1
ubiquitin specific peptidase 1
protein-coding gene
gene with protein product
Approved
1p31.3
null
[ "Ubiquitinyl hydrolase 1, Ubiquitin carboxyl-terminal hydrolase 1, ubiquitin thiolesterase 1" ]
null
[ "ubiquitin specific protease 1" ]
[ "Ubiquitin specific peptidases" ]
[ 366 ]
1998-06-08
null
2005-08-08
2023-01-20
7398
ENSG00000162607
OTTHUMG00000008972
uc001daj.3
null
[ "NM_001017415" ]
[ "CCDS621" ]
[ "O94782" ]
[ 12838346 ]
[ "MGI:2385198" ]
[ "RGD:1306461" ]
null
null
[ "603478" ]
null
null
C19.019
objectId:2428
null
[ "3.4.19.12" ]
HGNC:12607
[ "ENST00000339950.5", "NM_003368.5" ]
HGNC:12607
591bb6a9-2148-4654-95bd-6a565f7eba46
null
null
HGNC:23177
KEAP1
kelch like ECH associated protein 1
protein-coding gene
gene with protein product
Approved
19p13.2
[ "KIAA0132", "MGC10630", "MGC1114", "MGC20887", "MGC4407", "MGC9454", "INrf2", "KLHL19" ]
[ "kelch-like family member 19" ]
null
null
[ "Kelch like", "BTB domain containing" ]
[ 617, 861 ]
2003-09-30
null
2015-11-23
2023-01-20
9817
ENSG00000079999
OTTHUMG00000180579
uc002mor.2
[ "AF361886" ]
[ "NM_012289" ]
[ "CCDS12239" ]
[ "Q14145" ]
null
[ "MGI:1858732" ]
[ "RGD:621619" ]
null
KEAP1
[ "606016" ]
null
null
null
objectId:2757
null
null
HGNC:23177
[ "ENST00000171111.10", "NM_203500.2" ]
HGNC:23177
cf5bd1e5-c2a6-4408-9450-adb7a50232ce
null
null
HGNC:25675
CHMP6
charged multivesicular body protein 6
protein-coding gene
gene with protein product
Approved
17q25.3
[ "FLJ11749", "VPS20" ]
null
null
[ "chromatin modifying protein 6" ]
[ "Charged multivesicular body proteins", "ESCRT-III" ]
[ 482, 1118 ]
2005-04-04
null
2011-09-21
2023-08-02
79643
ENSG00000176108
OTTHUMG00000177645
uc002jyw.4
[ "BC010108" ]
[ "NM_024591" ]
[ "CCDS11774" ]
[ "Q96FZ7" ]
[ 11559748, 15511219 ]
[ "MGI:3583942" ]
[ "RGD:1565325" ]
null
null
[ "610901" ]
null
null
null
null
null
null
HGNC:25675
[ "ENST00000325167.9", "NM_024591.5" ]
null
e54cdca4-022a-4460-b389-11112c6b3016
null
null
HGNC:29681
SLC25A33
solute carrier family 25 member 33
protein-coding gene
gene with protein product
Approved
1p36.22
[ "MGC4399", "BMSC-MCP", "PNC1" ]
null
null
[ "solute carrier family 25, member 33", "solute carrier family 25 (pyrimidine nucleotide carrier), member 33" ]
[ "Solute carrier family 25" ]
[ 2176 ]
2006-09-21
null
2016-02-18
2023-01-20
84275
ENSG00000171612
OTTHUMG00000001322
uc001apw.4
[ "AF495714" ]
[ "NM_032315" ]
[ "CCDS103" ]
[ "Q9BSK2" ]
[ 14715278, 16949250 ]
[ "MGI:1917806" ]
[ "RGD:1583942" ]
null
null
[ "610816" ]
SLC25A33
null
null
objectId:1084
null
null
HGNC:29681
[ "ENST00000302692.7", "NM_032315.3" ]
null
95af2e7d-6184-4790-bfd9-a69681b7a25d
null
null
HGNC:18533
USP48
ubiquitin specific peptidase 48
protein-coding gene
gene with protein product
Approved
1p36.12
[ "FLJ23277", "FLJ11328", "FLJ20103", "FLJ23054", "MGC14879" ]
null
[ "USP31" ]
[ "ubiquitin specific protease 31", "ubiquitin specific protease 48" ]
[ "Ubiquitin specific peptidases" ]
[ 366 ]
2003-05-29
2004-04-07
2005-08-08
2023-03-17
84196
ENSG00000090686
OTTHUMG00000007798
uc001bfb.4
[ "AF502942" ]
[ "NM_032236" ]
null
[ "Q86UV5" ]
[ 12838346, 15354349 ]
[ "MGI:2158502" ]
[ "RGD:735213" ]
null
null
[ "617445" ]
null
null
C19.068
null
null
null
HGNC:18533
[ "ENST00000308271.14", "NM_032236.8" ]
HGNC:18533
4e0cddea-e0fa-4bff-ab58-b3e91c8c8bb2
null
null
HGNC:17233
ELMO2
engulfment and cell motility 2
protein-coding gene
gene with protein product
Approved
20q13.12
[ "CED12", "ELMO-2", "CED-12", "KIAA1834", "FLJ11656" ]
null
null
[ "engulfment and cell motility 2 (ced-12 homolog, C. elegans)" ]
[ "Engulfment and cell motility proteins" ]
[ 543 ]
2001-12-13
null
2006-01-20
2023-01-20
63916
ENSG00000062598
OTTHUMG00000033070
uc002xru.2
[ "AF398886" ]
[ "NM_022086" ]
[ "CCDS13398", "CCDS82623" ]
[ "Q96JJ3" ]
[ 11595183 ]
[ "MGI:2153045" ]
[ "RGD:1305784" ]
null
null
[ "606421" ]
null
465,978
null
null
null
null
HGNC:17233
[ "ENST00000290246.11", "NM_133171.5" ]
HGNC:17233
8df4ed04-328f-4ee0-a0b6-4920f02a368a
null
null
HGNC:9588
PTEN
phosphatase and tensin homolog
protein-coding gene
gene with protein product
Approved
10q23.31
[ "MMAC1", "TEP1", "PTEN1" ]
[ "mutated in multiple advanced cancers 1", "Phosphatidylinositol 3,4,5-trisphosphate 3-phosphatase and dual-specificity protein phosphatase PTEN" ]
[ "BZS", "MHAM" ]
null
[ "C2 tensin-type domain containing", "PTEN protein phosphatases", "Phosphoinositide phosphatases" ]
[ 837, 902, 1079 ]
1997-04-21
null
2008-07-31
2023-11-09
5728
ENSG00000171862
OTTHUMG00000018688
uc001kfb.4
[ "U92436" ]
[ "NM_000314" ]
[ "CCDS31238" ]
[ "P60484" ]
[ 9090379 ]
[ "MGI:109583" ]
[ "RGD:61995" ]
[ "LRG_311|http://ftp.ebi.ac.uk/pub/databases/lrgex/LRG_311.xml" ]
PTEN
[ "601728" ]
null
118,128
null
objectId:2497
null
[ "3.1.3.16", "3.1.3.48", "3.1.3.67" ]
HGNC:9588
[ "ENST00000371953.8", "NM_000314.8" ]
HGNC:9588
2f0f357d-a8fd-4e42-a808-05cfa3f0cfb3
null
null
HGNC:11998
TP53
tumor protein p53
protein-coding gene
gene with protein product
Approved
17p13.1
[ "p53", "LFS1" ]
[ "Li-Fraumeni syndrome" ]
null
null
null
null
1986-01-01
null
2008-01-16
2023-01-20
7157
ENSG00000141510
OTTHUMG00000162125
uc060aur.1
[ "AF307851" ]
[ "NM_000546" ]
null
[ "P04637" ]
[ 6396087, 3456488, 2047879 ]
[ "MGI:98834" ]
[ "RGD:3889" ]
[ "IARC TP53 Mutation Database|http://www-p53.iarc.fr/", "p53 UMD TP53 mutation database|http://p53.fr/", "Database of Germline p53 Mutations|http://www.lf2.cuni.cz/projects/germline_mut_p53.htm", "MUTP53LOAD, Mutant p53 Loss Of Activity Database|http://www.umd.be:2072/", "LRG_321|http://ftp.ebi.ac.uk/pub/databases/lrgex/LRG_321.xml" ]
TP53
[ "191170" ]
null
120,204
null
null
null
null
HGNC:11998
[ "ENST00000269305.9", "NM_000546.6" ]
HGNC:11998
e0978285-ce58-482d-9414-dc11d3bc3c3b
null
null
HGNC:17485
PPP2R3C
protein phosphatase 2 regulatory subunit B''gamma
protein-coding gene
gene with protein product
Approved
14q13.2
[ "FLJ20644", "G4-1", "G5PR" ]
null
[ "C14orf10" ]
[ "chromosome 14 open reading frame 10", "protein phosphatase 2 (formerly 2A), regulatory subunit B''" ]
[ "Protein phosphatase 2 regulatory subunits" ]
[ 696 ]
2002-11-18
2007-01-22
2017-04-05
2023-01-20
55012
ENSG00000092020
OTTHUMG00000140224
uc001wss.4
[ "AK000651" ]
[ "NM_017917" ]
[ "CCDS9654" ]
[ "Q969Q6" ]
[ 12167160, 16129705 ]
[ "MGI:1930009" ]
[ "RGD:1309207" ]
null
null
[ "615902" ]
null
null
null
null
null
null
HGNC:17485
[ "ENST00000261475.10", "NM_017917.4" ]
HGNC:17485
6b7d7a79-09a3-422a-9a56-c20d10926390
null
null
HGNC:7701
NDUFB6
NADH:ubiquinone oxidoreductase subunit B6
protein-coding gene
gene with protein product
Approved
9p21.1
[ "B17", "CI" ]
[ "NADH-ubiquinone oxidoreductase beta subunit, 6", "NADH-ubiquinone oxidoreductase B17 subunit", "complex I, mitochondrial respiratory chain, B17 subunit" ]
null
[ "NADH dehydrogenase (ubiquinone) 1 beta subcomplex, 6 (17kD, B17)", "NADH dehydrogenase (ubiquinone) 1 beta subcomplex, 6, 17kDa" ]
[ "NADH:ubiquinone oxidoreductase supernumerary subunits" ]
[ 1150 ]
1997-12-09
null
2015-11-20
2023-01-20
4712
ENSG00000165264
OTTHUMG00000019741
uc003zre.3
[ "AF035840" ]
[ "NM_002493" ]
null
[ "O95139" ]
[ 9763677, 9760212 ]
[ "MGI:2684983" ]
[ "RGD:1311354" ]
null
null
[ "603322" ]
null
470,752
null
null
null
null
HGNC:7701
[ "ENST00000379847.8", "NM_002493.5" ]
null
4cfddc82-5962-49a5-82d3-cb8d62e5adba
null
null
HGNC:4163
GART
phosphoribosylglycinamide formyltransferase, phosphoribosylglycinamide synthetase, phosphoribosylaminoimidazole synthetase
protein-coding gene
gene with protein product
Approved
21q22.11
[ "GARS-AIRS-GART" ]
[ "GAR transformylase", "glycinamide ribonucleotide synthetase-aminoimidazole ribonucleotide synthetase-glycinamide ribonucleotide transformylase", "Glycinamide ribonucleotide formyltransferase", "Trifunctional purine biosynthetic protein adenosine-3" ]
[ "PRGS", "PGFT" ]
null
[ "Purinosome" ]
[ 1569 ]
2001-06-22
null
null
2023-01-20
2618
ENSG00000159131
OTTHUMG00000065628
uc002yry.4
[ "M32082" ]
[ "NM_000819" ]
null
[ "P22102" ]
[ 2050105 ]
[ "MGI:95654" ]
[ "RGD:1308717" ]
null
null
[ "138440" ]
null
null
null
objectId:2612
null
[ "2.1.2.2", "6.3.3.1", "6.3.4.13" ]
HGNC:4163
[ "ENST00000381815.9", "NM_000819.5" ]
null
7ef85e44-cf43-40b3-8e18-b17e0416e3d2
null
null
HGNC:28814
TMCO6
transmembrane and coiled-coil domains 6
protein-coding gene
gene with protein product
Approved
5q31.3
[ "FLJ39769", "PRO1580" ]
null
null
null
[ "Armadillo like helical domain containing" ]
[ 1492 ]
2006-08-21
null
null
2023-01-20
55374
ENSG00000113119
OTTHUMG00000129497
uc003lgl.4
[ "BC001910" ]
[ "NM_018502" ]
[ "CCDS4233", "CCDS75320" ]
[ "Q96DC7" ]
[ 12477932 ]
[ "MGI:1919233" ]
[ "RGD:1309263" ]
null
null
null
null
null
null
null
null
null
HGNC:28814
[ "ENST00000394671.8", "NM_018502.5" ]
null
1e6a4dd2-4ca2-4632-8839-db83b3150204
null
null
HGNC:4670
GTPBP2
GTP binding protein 2
protein-coding gene
gene with protein product
Approved
6p21.1
null
null
null
null
null
null
2000-07-31
null
null
2023-01-20
54676
ENSG00000172432
OTTHUMG00000014744
uc003ovs.5
[ "AB024574" ]
[ "NM_001286216" ]
null
[ "Q9BX10" ]
[ 10833435, 11054535 ]
[ "MGI:1860138" ]
[ "RGD:1306367" ]
null
null
[ "607434" ]
null
null
null
null
null
null
HGNC:4670
[ "ENST00000307126.10", "NM_019096.5" ]
HGNC:4670
d987dbca-8e52-4dad-a8ad-1619d19550ff
null
null
HGNC:7765
NF1
neurofibromin 1
protein-coding gene
gene with protein product
Approved
17q11.2
null
[ "neurofibromatosis", "von Recklinghausen disease", "Watson disease" ]
null
null
[ "Armadillo like helical domain containing" ]
[ 1492 ]
1986-01-01
null
2008-07-31
2023-01-20
4763
ENSG00000196712
OTTHUMG00000132871
uc002hgh.3
null
[ "NM_000267" ]
null
[ "P21359" ]
[ 1715669 ]
[ "MGI:97306" ]
[ "RGD:3168" ]
[ "Global Variome shared LOVD|https://databases.lovd.nl/shared/genes/NF1", "LRG_214|http://ftp.ebi.ac.uk/pub/databases/lrgex/LRG_214.xml" ]
NF1
[ "613113" ]
null
123,772
null
null
null
null
HGNC:7765
[ "ENST00000358273.9", "NM_001042492.3" ]
HGNC:7765
9f7fb9b1-7284-4e41-9d37-0e153ef5b2dc
null
null
HGNC:7880
CNOT4
CCR4-NOT transcription complex subunit 4
protein-coding gene
gene with protein product
Approved
7q33
[ "CLONE243", "NOT4H" ]
null
[ "NOT4" ]
[ "CCR4-NOT transcription complex, subunit 4" ]
[ "Ring finger proteins", "RNA binding motif containing", "CCR4-NOT transcription complex" ]
[ 58, 725, 1023 ]
1996-07-19
null
2015-11-12
2023-01-20
4850
ENSG00000080802
OTTHUMG00000155568
uc003vss.4
[ "AF180475" ]
[ "NM_013316" ]
null
[ "O95628" ]
[ 10637334, 18533727 ]
[ "MGI:1859026" ]
[ "RGD:1310318" ]
null
null
[ "604911" ]
null
null
null
null
null
null
HGNC:7880
[ "ENST00000541284.6", "NM_001190850.2" ]
null
95a23e0d-586c-4724-aeec-0d8ee426feda
null
null
HGNC:17271
RRAS2
RAS related 2
protein-coding gene
gene with protein product
Approved
11p15.2
[ "TC21" ]
null
null
[ "related RAS viral (r-ras) oncogene homolog 2" ]
[ "RAS type GTPase family" ]
[ 389 ]
2001-11-30
null
2017-08-02
2023-01-20
22800
ENSG00000133818
OTTHUMG00000165756
uc001mlf.5
[ "M31468" ]
[ "NM_012250" ]
null
[ "P62070" ]
[ 2108320, 8052619 ]
[ "MGI:1914172" ]
[ "RGD:1310793" ]
null
RRAS2
[ "600098" ]
null
null
null
null
null
null
HGNC:17271
[ "ENST00000256196.9", "NM_012250.6" ]
HGNC:17271
a0303add-0a84-44de-9bb9-ac6e3f62670f
null
null
HGNC:7705
NDUFC1
NADH:ubiquinone oxidoreductase subunit C1
protein-coding gene
gene with protein product
Approved
4q31.1
[ "KFYI" ]
[ "complex I KFYI subunit" ]
null
[ "NADH dehydrogenase (ubiquinone) 1, subcomplex unknown, 1 (6kD, KFYI)", "NADH dehydrogenase (ubiquinone) 1, subcomplex unknown, 1, 6kDa" ]
[ "NADH:ubiquinone oxidoreductase supernumerary subunits" ]
[ 1150 ]
1997-12-17
null
2015-11-20
2023-01-20
4717
ENSG00000109390
OTTHUMG00000133387
uc021xsd.1
[ "AF047184" ]
[ "NM_002494" ]
[ "CCDS3746" ]
[ "O43677" ]
[ 9425316, 9763677 ]
[ "MGI:1913627" ]
[ "RGD:1586362" ]
null
null
[ "603844" ]
null
470,758
null
null
null
null
HGNC:7705
[ "ENST00000394223.2", "NM_001184989.2" ]
null
ddb038fe-8068-4bd2-90d7-75b1782ea418
null
null
HGNC:30536
DMAC1
distal membrane arm assembly component 1
protein-coding gene
gene with protein product
Approved
9p24.1
[ "MGC4730" ]
null
[ "C9orf123", "TMEM261" ]
[ "chromosome 9 open reading frame 123", "transmembrane protein 261", "distal membrane arm assembly complex 1" ]
[ "Mitochondrial respiratory chain complex assembly factors" ]
[ 645 ]
2004-04-15
2017-06-01
2021-02-05
2023-01-20
90871
ENSG00000137038
OTTHUMG00000019539
null
[ "BC009510" ]
[ "NM_033428" ]
[ "CCDS34989" ]
[ "Q96GE9" ]
[ 21666724, 27626371 ]
[ "MGI:1914178" ]
[ "RGD:1309148" ]
null
null
[ "617261" ]
null
null
null
null
null
null
HGNC:30536
[ "ENST00000358227.5", "NM_033428.3" ]
null
27b562f3-2be5-4dcb-b8e0-2dfb0a19c9e3
null
null
HGNC:25223
COQ2
coenzyme Q2, polyprenyltransferase
protein-coding gene
gene with protein product
Approved
4q21.23
[ "CL640", "FLJ26072" ]
[ "4-hydroxybenzoate polyprenyltransferase" ]
null
[ "coenzyme Q2 homolog, prenyltransferase (yeast)" ]
null
null
2005-07-05
null
2016-03-21
2023-01-20
27235
ENSG00000173085
OTTHUMG00000160940
uc003hog.3
null
[ "NM_015697" ]
[ "CCDS47090", "CCDS87234" ]
[ "Q96H96" ]
[ 15153069, 17332895 ]
[ "MGI:1919133" ]
[ "RGD:1306722" ]
null
null
[ "609825" ]
null
120,770
null
null
null
[ "2.5.1.39" ]
HGNC:25223
[ "ENST00000647002.2", "NM_001358921.2" ]
HGNC:25223
f0f51982-f687-496e-8be8-b6502caf9a12
null
null
HGNC:9438
PRKRA
protein activator of interferon induced protein kinase EIF2AK2
protein-coding gene
gene with protein product
Approved
2q31.2
[ "PACT", "RAX", "HSD14", "DYT16" ]
[ "protein activator of the interferon-induced protein kinase", "PKR-associated protein X" ]
null
[ "protein kinase, interferon-inducible double stranded RNA dependent activator" ]
[ "RISC loading complex subunits" ]
[ 1776 ]
1999-12-07
null
2016-01-06
2023-05-10
8575
ENSG00000180228
OTTHUMG00000132576
uc002umf.3
[ "AF072860" ]
[ "NM_003690" ]
null
[ "O75569" ]
[ 9687506, 10336432 ]
[ "MGI:1344375" ]
[ "RGD:1306707" ]
null
null
[ "603424" ]
null
213,048
null
null
null
null
HGNC:9438
[ "ENST00000325748.9", "NM_003690.5" ]
HGNC:9438
40d55a43-5513-4652-b997-ac272412633b
null
null
HGNC:3585
FANCD2
FA complementation group D2
protein-coding gene
gene with protein product
Approved
3p25.3
[ "FAD", "FA-D2" ]
null
[ "FACD", "FANCD" ]
[ "Fanconi anemia complementation group D2" ]
[ "FA complementation groups", "Armadillo like helical domain containing" ]
[ 548, 1492 ]
1996-01-04
2001-10-05
2018-05-09
2023-01-20
2177
ENSG00000144554
OTTHUMG00000128670
uc003buw.4
[ "AF340183" ]
[ "NM_001018115" ]
[ "CCDS2595", "CCDS33696" ]
[ "Q9BXW9" ]
[ 7581463, 11239453, 18475298 ]
[ "MGI:2448480" ]
[ "RGD:1303172" ]
[ "Fanconi Anaemia Mutation Database|http://www2.rockefeller.edu/fanconi/", "Global Variome shared LOVD|https://databases.lovd.nl/shared/genes/FANCD2", "LRG_306|http://ftp.ebi.ac.uk/pub/databases/lrgex/LRG_306.xml" ]
FANCD2
[ "613984" ]
null
121,709
null
null
null
null
HGNC:3585
[ "ENST00000675286.1", "NM_001018115.3" ]
HGNC:3585
3bdabdbb-31ef-43be-82f3-4a60761d76c5
null
null
HGNC:6397
KPNA4
karyopherin subunit alpha 4
protein-coding gene
gene with protein product
Approved
3q25.33
[ "QIP1", "SRP3", "IPOA3", "MGC12217", "MGC26703" ]
[ "importin alpha 3" ]
null
[ "karyopherin alpha 4 (importin alpha 3)", "karyopherin alpha 4" ]
[ "Armadillo repeat containing", "Importins" ]
[ 409, 596 ]
1998-08-20
null
2016-02-01
2023-01-20
3840
ENSG00000186432
OTTHUMG00000159033
uc003fdn.3
[ "AB002533" ]
[ "NM_002268" ]
[ "CCDS3191" ]
[ "O00629" ]
[ 9168958, 9395085 ]
[ "MGI:1100848" ]
[ "RGD:1311483" ]
null
null
[ "602970" ]
null
null
null
null
null
null
HGNC:6397
[ "ENST00000334256.9", "NM_002268.5" ]
null
557135d0-0184-4058-8335-5e9b10756bb4
null
null
HGNC:9352
PRDX1
peroxiredoxin 1
protein-coding gene
gene with protein product
Approved
1p34.1
[ "NKEFA" ]
null
[ "PAGA" ]
null
[ "Peroxiredoxins" ]
[ 953 ]
1993-11-01
null
null
2023-01-20
5052
ENSG00000117450
OTTHUMG00000007738
uc001cob.4
[ "BC021683" ]
[ "NM_181697" ]
[ "CCDS522" ]
[ "Q06830" ]
[ 8496166 ]
[ "MGI:99523" ]
[ "RGD:620039" ]
null
null
[ "176763" ]
null
null
null
null
null
null
HGNC:9352
[ "ENST00000319248.13", "NM_181697.3" ]
HGNC:9352
dae0cb94-2fca-4a53-b287-2e4b22ee8818
null
null
HGNC:22408
ATG9A
autophagy related 9A
protein-coding gene
gene with protein product
Approved
2q35
[ "FLJ22169" ]
null
[ "APG9L1" ]
[ "APG9 autophagy 9-like 1 (S. cerevisiae)", "ATG9 autophagy related 9 homolog A (S. cerevisiae)" ]
[ "Autophagy related" ]
[ 1022 ]
2004-11-24
2005-09-11
2012-06-06
2023-07-17
79065
ENSG00000198925
OTTHUMG00000154557
uc002vkf.3
[ "AK021732" ]
[ "NM_024085" ]
[ "CCDS42820" ]
[ "Q7Z3C6" ]
[ 29180427, 33106659 ]
[ "MGI:2138446" ]
[ "RGD:1310450" ]
null
null
[ "612204" ]
null
null
null
null
null
null
HGNC:22408
[ "ENST00000361242.9", "NM_001077198.3" ]
null
d62e0fb7-e1f4-40e7-81d3-c7079955dc74
null
null
HGNC:1748
CDH1
cadherin 1
protein-coding gene
gene with protein product
Approved
16q22.1
[ "uvomorulin", "CD324" ]
[ "E-Cadherin" ]
[ "UVO" ]
[ "cadherin 1, type 1, E-cadherin (epithelial)" ]
[ "CD molecules", "Type I classical cadherins" ]
[ 471, 1185 ]
1986-01-01
null
2016-01-15
2023-01-20
999
ENSG00000039068
OTTHUMG00000137561
uc002ewg.2
[ "L08599" ]
[ "NM_004360" ]
null
[ "P12830" ]
[ 9925936 ]
[ "MGI:88354" ]
[ "RGD:69279" ]
[ "LRG_301|http://ftp.ebi.ac.uk/pub/databases/lrgex/LRG_301.xml" ]
CDH1
[ "192090" ]
null
119,276
null
null
CD324
null
HGNC:1748
[ "ENST00000261769.10", "NM_004360.5" ]
HGNC:1748
ed200e21-6dd4-46d1-b1f1-0817b32a884c
null
[ "This entry has the approved symbol CDH1 which is also an alias symbol for the unrelated gene [FZR1](https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:24824)." ]
HGNC:20294
USPL1
ubiquitin specific peptidase like 1
protein-coding gene
gene with protein product
Approved
13q12.3
[ "bA121O19.1", "D13S106E" ]
null
[ "C13orf22" ]
[ "chromosome 13 open reading frame 22" ]
[ "Ubiquitin specific peptidases", "Ubiquitin specific peptidase like " ]
[ 366, 988 ]
2004-04-16
2005-11-24
2005-11-24
2024-03-15
10208
ENSG00000132952
OTTHUMG00000016675
uc001utc.3
[ "X59131" ]
[ "NM_005800" ]
null
[ "Q5W0Q7" ]
[ 22878415, 24413172, 35383180 ]
[ "MGI:2442342" ]
[ "RGD:1310835" ]
null
null
[ "617470" ]
null
null
null
null
null
null
HGNC:20294
[ "ENST00000255304.9", "NM_005800.5" ]
null
7047f585-00e3-494c-8d44-8741f897e20c
null
null
HGNC:2495
CTBP2
C-terminal binding protein 2
protein-coding gene
gene with protein product
Approved
10q26.13
[ "ribeye" ]
null
null
null
[ "MicroRNA protein coding host genes" ]
[ 1691 ]
1997-08-22
null
null
2023-01-20
1488
ENSG00000175029
OTTHUMG00000019224
uc009yal.4
[ "AF016507" ]
[ "NM_001083914" ]
null
[ "P56545" ]
[ 9479502, 11864595 ]
[ "MGI:1201686" ]
[ "RGD:68372" ]
null
null
[ "602619" ]
null
null
null
null
null
null
HGNC:2495
[ "ENST00000337195.11", "NM_001329.4" ]
null
86798954-841e-4a6f-aa9b-c18457e3c861
null
null
HGNC:5961
IKBKG
inhibitor of nuclear factor kappa B kinase regulatory subunit gamma
protein-coding gene
gene with protein product
Approved
Xq28
[ "IKK-gamma", "NEMO", "Fip3p", "FIP-3", "FIP3", "ZC2HC9", "IKKAP1", "IKKG" ]
[ "NF-kappa-B essential modulator", "IkB kinase-associated protein 1", "I-kappa-B kinase subunit gamma", "IkB kinase subunit gamma", "14.7K (adenovirus E3 protein) interacting protein 3" ]
[ "IP2", "IP1" ]
[ "incontinentia pigmenti", "inhibitor of kappa light polypeptide gene enhancer in B-cells, kinase gamma", "inhibitor of nuclear factor kappa B kinase subunit gamma" ]
[ "Zinc fingers C2HC-type", "IKK complex" ]
[ 66, 1817 ]
1998-09-30
null
2019-02-14
2023-01-20
8517
ENSG00000269335
OTTHUMG00000024234
uc033fbv.2
[ "AF074382" ]
[ "NM_003639" ]
null
[ "Q9Y6K9" ]
[ 9751060, 10087442, 11590134, 11242109 ]
[ "MGI:1338074" ]
[ "RGD:735223" ]
[ "IKBKGbase: Mutation registry for Nemo deficiency|http://structure.bmc.lu.se/idbase/IKBKGbase/", "Global Variome shared LOVD|https://databases.lovd.nl/shared/genes/IKBKG", "LRG_70|http://ftp.ebi.ac.uk/pub/databases/lrgex/LRG_70.xml" ]
null
[ "300248" ]
null
122,614
null
null
null
null
HGNC:5961
[ "ENST00000594239.6", "NM_001099857.5" ]
HGNC:5961
aaf41256-6bd8-4f34-937c-703cc3b0719d
null
null
HGNC:29088
PDS5A
PDS5 cohesin associated factor A
protein-coding gene
gene with protein product
Approved
4p14
[ "KIAA0648", "PIG54", "SCC-112" ]
null
null
[ "PDS5, regulator of cohesion maintenance, homolog A (S. cerevisiae)" ]
[ "Armadillo like helical domain containing" ]
[ 1492 ]
2007-06-20
null
2014-11-17
2023-03-15
23244
ENSG00000121892
OTTHUMG00000160582
uc003guv.4
[ "AF294791" ]
[ "NM_015200" ]
[ "CCDS47045", "CCDS54759" ]
[ "Q29RF7" ]
[ 11076961, 15855230, 24141881 ]
[ "MGI:1918771" ]
[ "RGD:1307094" ]
null
null
[ "613200" ]
null
470,848
null
null
null
null
HGNC:29088
[ "ENST00000303538.13", "NM_001100399.2" ]
null
57a892dc-5464-4cfc-9924-2e9b7c5fec92
null
null
HGNC:3581
BPTF
bromodomain PHD finger transcription factor
protein-coding gene
gene with protein product
Approved
17q24.2
[ "FAC1", "NURF301" ]
null
[ "FALZ" ]
[ "fetal Alzheimer antigen" ]
[ "PHD finger proteins", "Bromodomain containing", "NURF complex" ]
[ 88, 1232, 1363 ]
1996-10-30
2006-12-01
2006-12-01
2023-01-20
2186
ENSG00000171634
OTTHUMG00000132254
uc002jgf.4
[ "AY282495" ]
[ "NM_182641", "NM_004459" ]
[ "CCDS11673" ]
[ "Q12830" ]
[ 8975731, 10662542, 16728976 ]
[ "MGI:2444008" ]
[ "RGD:1307039" ]
null
null
[ "601819" ]
null
null
null
objectId:2723
null
null
HGNC:3581
[ "ENST00000306378.11", "NM_182641.4" ]
HGNC:3581
2c7f1ac2-490e-47bc-a10e-e6c97401abd2
null
null
HGNC:20473
BRIP1
BRCA1 interacting DNA helicase 1
protein-coding gene
gene with protein product
Approved
17q23.2
[ "OF", "BACH1", "FANCJ" ]
[ "BRCA1/BRCA2-associated helicase 1", "FANCJ helicase", "BRCA1-associated C-terminal helicase", "BRCA1 interacting protein 1" ]
null
[ "BRCA1 interacting helicase 1", "BRCA1 interacting protein C-terminal helicase 1" ]
[ "DEAH-box helicases", "FA complementation groups", "BRCA1 B complex" ]
[ 500, 548, 1335 ]
2003-04-11
null
2024-09-05
2024-09-05
83990
ENSG00000136492
OTTHUMG00000179233
uc002izk.3
[ "AF360549" ]
[ "NM_032043" ]
[ "CCDS11631" ]
[ "Q9BX63" ]
[ 11595410, 11301010 ]
[ "MGI:2442836" ]
[ "RGD:1307659" ]
[ "Fanconi Anaemia Mutation Database|http://www2.rockefeller.edu/fanconi/", "Global Variome shared LOVD|https://databases.lovd.nl/shared/genes/FANCJ", "LRG_300|http://ftp.ebi.ac.uk/pub/databases/lrgex/LRG_300.xml" ]
BRIP1
[ "605882" ]
null
119,080
null
null
null
null
HGNC:20473
[ "ENST00000259008.7", "NM_032043.3" ]
HGNC:20473
4d16db18-b95a-4dd5-b3fe-843c20923303
null
[ "This entry has the alias symbol BACH1 which is also the approved symbol for the unrelated gene [BACH1](https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:935)" ]
HGNC:16356
USH1G
USH1 protein network component sans
protein-coding gene
gene with protein product
Approved
17q25.1
[ "Sans", "FLJ33924", "ANKS4A" ]
null
null
[ "Usher syndrome 1G (autosomal recessive)" ]
[ "Ankyrin repeat domain containing", "Sterile alpha motif domain containing" ]
[ 403, 760 ]
2001-12-07
null
2016-02-17
2023-01-20
124590
ENSG00000182040
OTTHUMG00000178864
uc032fra.2
[ "AK091243" ]
[ "NM_173477" ]
[ "CCDS32725" ]
[ "Q495M9" ]
[ 12588794 ]
[ "MGI:2450757" ]
[ "RGD:1304551" ]
[ "CCHMC-BMI & UC Hearing Loss Mutation Database|https://research.cchmc.org/LOVD/home.php?select_db=USH1G", "LRG_1416|http://ftp.ebi.ac.uk/pub/databases/lrgex/LRG_1416.xml" ]
null
[ "607696" ]
null
120,442
null
null
null
null
HGNC:16356
[ "ENST00000614341.5", "NM_173477.5" ]
HGNC:16356
9b1a4f34-dce9-4875-9191-cf024111b5c9
null
null
HGNC:25522
WRAP53
WD repeat containing antisense to TP53
protein-coding gene
gene with protein product
Approved
17p13.1
[ "FLJ10385", "TCAB1" ]
[ "telomerase cajal body protein 1", "WD-encoding RNA antisense to p53" ]
[ "WDR79" ]
[ "WD repeat domain 79", "WD repeat containing, antisense to TP53" ]
[ "WD repeat domain containing" ]
[ 362 ]
2005-08-12
2009-02-16
2016-04-25
2023-01-20
55135
ENSG00000141499
OTTHUMG00000134323
uc010vuh.2
[ "AK001247", "DQ431240" ]
[ "NM_018081" ]
[ "CCDS11119" ]
[ "Q9BUR4" ]
[ 19179534, 19250907, 19571673, 19342896, 20494116, 21441950 ]
[ "MGI:2384933" ]
[ "RGD:1359624" ]
[ "LRG_375|http://ftp.ebi.ac.uk/pub/databases/lrgex/LRG_375.xml" ]
null
[ "612661" ]
null
266,162
null
null
null
null
HGNC:25522
[ "ENST00000396463.7", "NM_001143992.2" ]
HGNC:25522
956e0fc3-76d8-4b08-b166-94ce7b8b1b7b
null
null
HGNC:10681
SDHB
succinate dehydrogenase complex iron sulfur subunit B
protein-coding gene
gene with protein product
Approved
1p36.13
null
[ "iron-sulfur subunit of complex II", "succinate dehydrogenase [ubiquinone] iron-sulfur subunit" ]
[ "SDH1", "SDH" ]
[ "succinate dehydrogenase complex, subunit B, iron sulfur (Ip)", "succinate dehydrogenase complex subunit B, iron sulfur (Ip)" ]
[ "Mitochondrial complex II: succinate dehydrogenase subunits" ]
[ 641 ]
2001-06-22
null
2016-01-28
2023-01-20
6390
ENSG00000117118
OTTHUMG00000002289
uc001bae.5
[ "U17248" ]
[ "NM_003000" ]
[ "CCDS176" ]
[ "P21912" ]
null
[ "MGI:1914930" ]
[ "RGD:1308598" ]
[ "SDHB @ LOVD|http://www.LOVD.nl/SDHB", "Global Variome shared LOVD|https://databases.lovd.nl/shared/genes/SDHB", "LRG_316|http://ftp.ebi.ac.uk/pub/databases/lrgex/LRG_316.xml" ]
SDHB
[ "185470" ]
null
118,554
null
null
null
[ "1.3.99.1" ]
HGNC:10681
[ "ENST00000375499.8", "NM_003000.3" ]
HGNC:10681
ec70da14-9860-4a86-a9ff-cb8c76134b63
null
null
HGNC:25009
UBE2T
ubiquitin conjugating enzyme E2 T
protein-coding gene
gene with protein product
Approved
1q32.1
[ "HSPC150", "FANCT" ]
null
null
[ "ubiquitin-conjugating enzyme E2T" ]
[ "Ubiquitin conjugating enzymes E2", "FA complementation groups" ]
[ 102, 548 ]
2005-03-21
null
2016-03-14
2023-01-20
29089
ENSG00000077152
OTTHUMG00000041392
uc001gxx.5
[ "AF161499" ]
[ "NM_014176" ]
[ "CCDS1425" ]
[ "Q9NPD8" ]
[ 11042152, 16916645, 26046368 ]
[ "MGI:1914446" ]
[ "RGD:1310816" ]
[ "LRG_1169|http://ftp.ebi.ac.uk/pub/databases/lrgex/LRG_1169.xml" ]
null
[ "610538" ]
null
432,157
null
null
null
null
HGNC:25009
[ "ENST00000646651.1", "NM_014176.4" ]
HGNC:25009
61086eaa-b2c9-481d-9e82-e2453928b135
null
null
HGNC:30064
PBRM1
polybromo 1
protein-coding gene
gene with protein product
Approved
3p21.1
[ "BAF180", "PB1", "SMARCH1" ]
null
null
null
[ "Bromodomain containing", "PBAF complex subunits" ]
[ 1232, 1605 ]
2007-03-29
null
null
2023-01-20
55193
ENSG00000163939
OTTHUMG00000152663
uc003des.3
[ "BC015323" ]
[ "NM_018165" ]
null
[ "Q86U86" ]
[ 11078522, 11483580 ]
[ "MGI:1923998" ]
[ "RGD:1565549" ]
null
PBRM1
[ "606083" ]
null
434,716
null
objectId:2738
null
null
HGNC:30064
[ "ENST00000707071.1", "NM_001405607.1" ]
null
a7a5adfd-bb04-4454-9bae-abcb2d299e18
null
null
HGNC:30298
UIMC1
ubiquitin interaction motif containing 1
protein-coding gene
gene with protein product
Approved
5q35.2
[ "RAP80" ]
[ "receptor associated protein 80" ]
null
null
[ "BRCA1 A complex" ]
[ 1328 ]
2006-10-27
null
null
2023-01-20
51720
ENSG00000087206
OTTHUMG00000130852
uc063kao.1
[ "AF349313" ]
[ "NM_016290" ]
[ "CCDS4408", "CCDS83050" ]
[ "Q96RL1" ]
[ 12080054, 19015238 ]
[ "MGI:103185" ]
[ "RGD:1307009" ]
null
null
[ "609433" ]
null
null
null
null
null
null
HGNC:30298
[ "ENST00000511320.6", "NM_001199298.2" ]
HGNC:30298
c65f2545-628a-4b28-957d-c2ad01415dc4
null
null
HGNC:25628
DDX19A
DEAD-box helicase 19A
protein-coding gene
gene with protein product
Approved
16q22.1
[ "FLJ11126" ]
null
[ "DDX19L" ]
[ "DEAD (Asp-Glu-Ala-As) box polypeptide 19-like", "DEAD (Asp-Glu-Ala-Asp) box polypeptide 19A" ]
[ "DEAD-box helicases" ]
[ 499 ]
2004-11-03
2005-07-13
2016-01-07
2023-01-20
55308
ENSG00000168872
OTTHUMG00000137579
uc002eyv.4
[ "AF183422" ]
[ "NM_018332" ]
[ "CCDS10889", "CCDS82009" ]
[ "Q9NUU7" ]
[ 26538395 ]
[ "MGI:99526" ]
[ "RGD:1303136" ]
null
null
null
null
null
null
null
null
null
HGNC:25628
[ "ENST00000302243.12", "NM_018332.5" ]
null
bbecc48f-1c66-4a76-a364-f1a2152f9faf
null
null
HGNC:18037
ARID2
AT-rich interaction domain 2
protein-coding gene
gene with protein product
Approved
12q12
[ "KIAA1557", "DKFZp686G052", "FLJ30619", "BAF200", "SMARCF3", "ZIPZAP", "p200" ]
null
null
[ "AT rich interactive domain 2 (ARID, RFX-like)" ]
[ "AT-rich interaction domain containing", "Armadillo like helical domain containing", "PBAF complex subunits" ]
[ 418, 1492, 1605 ]
2004-01-28
null
2015-11-17
2023-07-12
196528
ENSG00000189079
OTTHUMG00000150487
uc001ros.2
[ "DQ096628" ]
[ "NM_152641" ]
[ "CCDS31783" ]
[ "Q68CP9" ]
[ 16782067, 21822264, 22184115 ]
[ "MGI:1924294" ]
[ "RGD:1311105" ]
null
ARID2
[ "609539" ]
null
469,962
null
null
null
null
HGNC:18037
[ "ENST00000334344.11", "NM_152641.4" ]
HGNC:18037
3424ec6a-36b4-40b5-bb03-75313a4fc445
null
null
HGNC:15531
EBNA1BP2
EBNA1 binding protein 2
protein-coding gene
gene with protein product
Approved
1p34.2
[ "NOBP", "EBP2", "P40" ]
null
null
[ "EBNA1-binding protein 2" ]
[ "MicroRNA protein coding host genes" ]
[ 1691 ]
2001-10-16
null
2001-11-28
2023-01-20
10969
ENSG00000117395
OTTHUMG00000007284
uc001cin.4
[ "U86602" ]
[ "NM_001159936" ]
[ "CCDS478", "CCDS53308" ]
[ "Q99848" ]
[ 10074103, 11438656 ]
[ "MGI:1916322" ]
[ "RGD:1305762" ]
null
null
[ "614443" ]
null
null
null
null
null
null
HGNC:15531
[ "ENST00000236051.3", "NM_006824.3" ]
null
f1c19122-8546-4bba-9a35-b0e64c780cff
null
null
HGNC:950
BAP1
BRCA1 associated deubiquitinase 1
protein-coding gene
gene with protein product
Approved
3p21.1
[ "hucep-6", "KIAA0272", "UCHL2" ]
[ "ubiquitin carboxy-terminal hydrolase L2" ]
null
[ "BRCA1 associated protein-1 (ubiquitin carboxy-terminal hydrolase)", "BRCA1 associated protein 1" ]
[ "Ubiquitin C-terminal hydrolases" ]
[ 998 ]
1998-09-17
null
2024-07-04
2024-07-04
8314
ENSG00000163930
OTTHUMG00000158392
uc003ddx.5
[ "AF045581" ]
[ "NM_001410772" ]
[ "CCDS2853", "CCDS93284" ]
[ "Q92560" ]
[ 9528852, 19117993, 37009801 ]
[ "MGI:1206586" ]
[ "RGD:1311938" ]
[ "LRG_529|http://ftp.ebi.ac.uk/pub/databases/lrgex/LRG_529.xml" ]
BAP1
[ "603089" ]
null
289,543
C12.004
objectId:2332
null
[ "3.4.19.12" ]
HGNC:950
[ "ENST00000460680.6", "NM_004656.4" ]
HGNC:950
7892f77f-9288-4878-86e0-14be27a6981c
null
[ "This entry has the approved symbol BAP1 which is also an alias symbol for the unrelated genes [MAGI1](https://genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:946) and [RNF2](https://genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:10061)" ]
HGNC:18380
BZW1
basic leucine zipper and W2 domains 1
protein-coding gene
gene with protein product
Approved
2q33.1
[ "BZAP45", "KIAA0005", "5MP2" ]
[ "eIF5-mimic protein 2" ]
null
null
null
null
2002-08-05
null
null
2023-01-20
9689
ENSG00000082153
OTTHUMG00000154560
uc002uwc.4
[ "D13630" ]
[ "NM_014670" ]
null
[ "Q7L1Q6" ]
[ 10964520, 11524015, 27325740, 29470543 ]
[ "MGI:1914132" ]
[ "RGD:735129" ]
null
null
[ "619252" ]
null
null
null
null
null
null
HGNC:18380
[ "ENST00000409600.6", "NM_001207067.2" ]
null
4dafb471-6cd6-4393-b1f0-247bcfb8221c
null
null
HGNC:13516
BIRC6
baculoviral IAP repeat containing 6
protein-coding gene
gene with protein product
Approved
2p22.3
[ "BRUCE" ]
[ "apollon" ]
null
[ "baculoviral IAP repeat-containing 6" ]
[ "Ubiquitin conjugating enzymes E2", "Baculoviral IAP repeat containing", "MicroRNA protein coding host genes" ]
[ 102, 419, 1691 ]
2000-09-19
null
2011-01-25
2023-01-20
57448
ENSG00000115760
OTTHUMG00000150528
uc010ezu.4
[ "AF265555" ]
[ "NM_016252" ]
[ "CCDS33175" ]
[ "Q9NR09" ]
[ 10544019 ]
[ "MGI:1276108" ]
[ "RGD:1307247" ]
null
null
[ "605638" ]
null
null
I32.006
objectId:2796
null
null
HGNC:13516
[ "ENST00000421745.7", "NM_016252.4" ]
null
2f1f1ebe-bf06-4ac2-89d7-34fc2c1ee83b
null
null
HGNC:18329
YPEL5
yippee like 5
protein-coding gene
gene with protein product
Approved
2p23.1
[ "CGI-127" ]
null
null
[ "yippee-like 5 (Drosophila)" ]
[ "Yippee like family" ]
[ 1130 ]
2004-06-28
null
2015-11-05
2023-01-20
51646
ENSG00000119801
OTTHUMG00000097839
uc002rna.5
[ "AF135161" ]
[ "NM_016061" ]
[ "CCDS1771" ]
[ "P62699" ]
[ 15556292 ]
[ "MGI:1916937" ]
[ "RGD:1309657" ]
null
null
[ "609726" ]
null
null
null
null
null
null
HGNC:18329
[ "ENST00000261353.9", "NM_016061.3" ]
null
aa2a0171-72f1-40aa-a49c-f7d8352b96a0
null
null
HGNC:18752
MAPKAP1
MAPK associated protein 1
protein-coding gene
gene with protein product
Approved
9q33.3
[ "MGC2745", "SIN1", "MIP1" ]
[ "stress-activated protein kinase-interacting 1" ]
null
[ "mitogen-activated protein kinase associated protein 1" ]
[ "MTOR complex 2" ]
[ 1333 ]
2002-07-19
null
2019-04-12
2023-01-20
79109
ENSG00000119487
OTTHUMG00000020683
uc004bpv.3
[ "M37191" ]
[ "NM_001006617" ]
null
[ "Q9BPZ7" ]
[ 15363842 ]
[ "MGI:2444554" ]
[ "RGD:1305363" ]
null
null
[ "610558" ]
null
null
null
null
null
null
HGNC:18752
[ "ENST00000265960.8", "NM_001006617.3" ]
null
02f8804d-e59d-4231-9bf9-53a26e06191c
null
null
HGNC:2867
DHODH
dihydroorotate dehydrogenase (quinone)
protein-coding gene
gene with protein product
Approved
16q22.2
null
null
null
[ "dihydroorotate dehydrogenase" ]
[ "Flavoproteins" ]
[ 2258 ]
1993-06-29
null
2011-09-05
2023-01-20
1723
ENSG00000102967
OTTHUMG00000178093
uc002fbp.4
null
[ "NM_001361" ]
[ "CCDS42192" ]
[ "Q02127" ]
[ 8211381 ]
[ "MGI:1928378" ]
[ "RGD:68352" ]
null
null
[ "126064" ]
null
225,386
null
objectId:2604
null
[ "1.3.5.2" ]
HGNC:2867
[ "ENST00000219240.9", "NM_001361.5" ]
HGNC:2867
e902248d-33d9-4655-a763-3860521e0c4e
null
null
HGNC:28349
RMI2
RecQ mediated genome instability 2
protein-coding gene
gene with protein product
Approved
16p13.13
[ "MGC24665", "BLAP18" ]
null
[ "C16orf75" ]
[ "chromosome 16 open reading frame 75", "RMI2, RecQ mediated genome instability 2, homolog (S. cerevisiae)" ]
null
null
2006-07-04
2011-06-09
2013-06-10
2023-01-20
116028
ENSG00000175643
OTTHUMG00000129793
uc059quq.1
[ "AK123764" ]
[ "NM_152308" ]
[ "CCDS10548" ]
[ "Q96E14" ]
[ 18923083, 20826341 ]
[ "MGI:2685383" ]
[ "RGD:1563163" ]
null
RMI2
[ "612426" ]
null
null
null
null
null
null
HGNC:28349
[ "ENST00000312499.6", "NM_152308.3" ]
null
5e23b446-d355-4a95-9899-faadd6fefcce
null
null
HGNC:11427
STUB1
STIP1 homology and U-box containing protein 1
protein-coding gene
gene with protein product
Approved
16p13.3
[ "UBOX1", "CHIP", "SDCCAG7", "HSPABP2", "NY-CO-7" ]
null
null
null
[ "U-box domain containing", "Tetratricopeptide repeat domain containing" ]
[ 365, 769 ]
1999-11-25
null
2016-03-23
2023-01-20
10273
ENSG00000103266
OTTHUMG00000121140
uc002cit.4
[ "AF039689" ]
[ "NM_005861" ]
[ "CCDS10419", "CCDS76797" ]
[ "Q9UNE7" ]
[ 10330192, 9610721 ]
[ "MGI:1891731" ]
[ "RGD:1306167" ]
null
null
[ "607207" ]
null
395,106
null
objectId:3202
null
null
HGNC:11427
[ "ENST00000219548.9", "NM_005861.4" ]
HGNC:11427
e3e1e1d8-561d-493b-af33-857043aa16dc
null
null
HGNC:7773
NF2
NF2, moesin-ezrin-radixin like (MERLIN) tumor suppressor
protein-coding gene
gene with protein product
Approved
22q12.2
[ "merlin", "ACN", "SCH", "BANF", "merlin-1" ]
[ "moesin-ezrin-radixin like", "schwannomin", "bilateral acoustic neurofibromatosis" ]
null
[ "neurofibromin 2 (bilateral acoustic neuroma)", "neurofibromin 2 (merlin)" ]
[ "A-kinase anchoring proteins", "FERM domain containing" ]
[ 396, 1293 ]
1992-01-01
null
2021-10-07
2023-03-15
4771
ENSG00000186575
OTTHUMG00000030727
uc003age.5
[ "L11353" ]
[ "NM_000268" ]
null
[ "P35240" ]
[ 10591208 ]
[ "MGI:97307" ]
[ "RGD:3169" ]
[ "Neurofibromatosis 2 (NF2) mutation database|http://www.hgmd.cf.ac.uk/nf2/", "LRG_511|http://ftp.ebi.ac.uk/pub/databases/lrgex/LRG_511.xml" ]
NF2
[ "607379" ]
null
123,774
null
null
null
null
HGNC:7773
[ "ENST00000338641.10", "NM_000268.4" ]
HGNC:7773
c1330781-7b55-4cd0-9aee-402272bb9d0f
null
null

Dataset Card for Synthetic Lethal Tumor Suppressor Genes (SL TSG)

This dataset was created with the goal of providing cancer researchers and bioinformaticians with a comprehensive resource for studying synthetic lethality in tumor suppressor genes (TSGs). By identifying genetic interactions that lead to cancer cell death when both a tumor suppressor gene and its synthetic lethal partner are mutated or deactivated, this dataset aims to support the development of novel cancer therapeutics.

It is currently a highly filtered list of ~90 genes and intended to be used in combination with the dwb2023/pmc_35559673_table_s6 dataset.

In creating this dataset, we are grateful for the rich, publicly available data curated by the HUGO Gene Nomenclature Committee (HGNC). Their dedication to maintaining high-quality gene data has been instrumental to this work.

Dataset Details

Dataset Description

This dataset consists of curated information on synthetic lethal interactions involving tumor suppressor genes. The fields in this dataset include gene symbols, gene IDs, and additional metadata sourced from public bioinformatics databases, including HGNC, ENSEMBL, NCBI Entrez, and others. Researchers can leverage this dataset to study gene-gene interactions in cancer biology, particularly those that lead to synthetic lethality, an emerging therapeutic strategy in cancer treatment.

We would like to acknowledge HGNC as the primary source of the gene nomenclature and ID data used in this dataset. HGNC provides freely accessible gene data under the Creative Commons Public Domain (CC0) license. While attribution is not required, we believe in giving credit to the dedicated curators who make such valuable resources available.

Dataset Sources

Uses

Direct Use

This dataset is primarily intended for use in cancer research. Specifically, it supports the study of synthetic lethal interactions involving tumor suppressor genes, helping researchers:

  • Identify potential therapeutic targets in cancer cells harboring TSG mutations.
  • Explore gene-gene dependencies that may reveal vulnerabilities in cancer cells.
  • Integrate synthetic lethal interactions with other cancer data to guide precision medicine.

Out-of-Scope Use

  • This dataset is not designed for clinical decision-making or to predict individual genetic predispositions to diseases.
  • Using the dataset for commercial purposes without proper validation and clinical trials is discouraged.

Dataset Structure

The dataset contains the following fields, each of which is essential for understanding the synthetic lethal interactions and genetic relationships in cancer:

Field Name Description
hgnc_id HGNC ID. A unique ID created by the HGNC for every approved symbol.
symbol The HGNC approved gene symbol. Equates to the "Approved symbol" field within the gene symbol report.
name HGNC approved name for the gene. Equates to the "Approved name" field within the gene symbol report.
locus_group A group name for a set of related locus types as defined by the HGNC (e.g. non-coding RNA).
locus_type The locus type as set by the HGNC.
status Status of the symbol report, which can be either "Approved" or "Entry Withdrawn".
location Cytogenetic location of the gene (e.g. 2q34).
alias_symbol Other symbols used to refer to this gene as seen in the "Alias symbols" field in the gene symbol report.
alias_name Other names used to refer to this gene as seen in the "Alias names" field in the gene symbol report.
prev_symbol Gene symbols previously approved by the HGNC for this gene. Equates to the "Previous symbols" field within the gene symbol report.
prev_name Gene names previously approved by the HGNC for this gene. Equates to the "Previous names" field within the gene symbol report.
gene_group The gene group name as set by the HGNC and seen at the top of the gene group reports.
gene_group_id ID used to designate a gene group the gene has been assigned to.
date_approved_reserved The date the entry was first approved.
date_symbol_changed The date the approved symbol was last changed.
date_name_changed The date the approved name was last changed.
date_modified Date the entry was last modified.
entrez_id NCBI gene ID. Found within the "Gene resources" section of the gene symbol report.
ensembl_gene_id Ensembl gene ID. Found within the "Gene resources" section of the gene symbol report.
vega_id Vega gene ID. Found within the "Gene resources" section of the gene symbol report.
ucsc_id UCSC gene ID. Found within the "Gene resources" section of the gene symbol report.
ena International Nucleotide Sequence Database Collaboration (GenBank, ENA and DDBJ) accession number(s). Found within the "Nucleotide resources" section of the gene symbol report.
refseq_accession RefSeq nucleotide accession(s). Found within the "Nucleotide resources" section of the gene symbol report.
ccds_id Consensus CDS ID. Found within the "Nucleotide resources" section of the gene symbol report.
uniprot_ids UniProt protein accession. Found within the "Protein resource" section of the gene symbol report.
pubmed_id Pubmed and Europe Pubmed Central PMID(s).
mgd_id Mouse genome informatics database ID. Found within the "Homologs" section of the gene symbol report.
rgd_id Rat genome database gene ID. Found within the "Homologs" section of the gene symbol report.
lsdb The name of the Locus Specific Mutation Database and URL for the gene separated by a
cosmic Symbol used within the Catalogue of somatic mutations in cancer for the gene. (No longer updated!).
omim_id Online Mendelian Inheritance in Man (OMIM) ID
bioparadigms_slc Symbol used to link to the SLC tables database at bioparadigms.org for the gene
orphanet Orphanet ID
merops ID used to link to the MEROPS peptidase database
iuphar The objectId used to link to the IUPHAR/BPS Guide to PHARMACOLOGY database.
cd Symbol used within the Human Cell Differentiation Molecule database for the gene
enzyme_id ENZYME EC accession number
agr The HGNC ID that the Alliance of Genome Resources (AGR) have linked to their record of the gene.
mane_select NCBI and Ensembl transcript IDs/acessions including the version number for one high-quality representative transcript per protein-coding gene.
gencc The HGNC ID used within the GenCC database as the unique identifier of their gene reports within the GenCC database.
uuid Unique identifier (not in original description, but present in the JSON list)
rna_central_id RNA Central ID (not in original description, but present in the JSON list)
curator_notes Curator notes (not in original description, but present in the JSON list)

Dataset Creation

Curation Rationale

The curation of this dataset was driven by a need for a well-organized, comprehensive source of synthetic lethal interactions in tumor suppressor genes. These relationships offer a promising avenue for cancer therapies that specifically target cancer cells, leaving healthy cells unaffected.

Source Data

Data Collection and Processing

The data was collected from multiple publicly available sources, including:

  • HGNC: Providing gene nomenclature and IDs.
  • ENSEMBL: Offering curated genomic annotations.
  • NCBI Entrez: Supplying cross-referenced gene IDs.

Data was processed to ensure consistency across gene symbols and IDs, with normalization steps applied to ensure accuracy and usability in bioinformatics workflows.

Who are the source data producers?

Annotations [optional]

No manual annotations were added to the dataset.

Bias, Risks, and Limitations

Recommendations

This dataset is intended for research purposes only. Users should be aware that synthetic lethal interactions are still under active research, and many interactions need experimental validation. Users are encouraged to critically evaluate the dataset before applying it in any therapeutic development context.

Citation

Please cite the original dataset using the following format:

BibTeX:

@article{10.1093/nar/gkac888,
    author = {Seal, Ruth L and Braschi, Bryony and Gray, Kristian and Jones, Tamsin E M and Tweedie, Susan and Haim-Vilmovsky, Liora and Bruford, Elspeth A},
    title = "{Genenames.org: the HGNC resources in 2023}",
    journal = {Nucleic Acids Research},
    volume = {51},
    number = {D1},
    pages = {D1003-D1009},
    year = {2022},
    month = {10},
    abstract = "{The HUGO Gene Nomenclature Committee (HGNC) assigns unique symbols and names to human genes. The HGNC database (www.genenames.org) currently contains over 43 000 approved gene symbols, over 19 200 of which are assigned to protein-coding genes, 14 000 to pseudogenes and nearly 9000 to non-coding RNA genes. The public website, www.genenames.org, displays all approved nomenclature within Symbol Reports that contain data curated by HGNC nomenclature advisors and links to related genomic, clinical, and proteomic information. Here, we describe updates to our resource, including improvements to our search facility and new download features.}",
    issn = {0305-1048},
    doi = {10.1093/nar/gkac888},
    url = {https://doi.org/10.1093/nar/gkac888},
    eprint = {https://academic.oup.com/nar/article-pdf/51/D1/D1003/48441239/gkac888.pdf},
}

Dataset Card Authors

  • Author: dwb2023

Dataset Card Contact

  • Contact: dwb2023

This card now includes proper attribution for HGNC and other contributors, aligning with their recommendations for proper citation and respecting their curation efforts. Let me know if there are any final adjustments!

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