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基因IDtaxidGeneDate
LocusTag
Symbol
Synonyms
Symbolfna
Fullnamefna
dbXrefschromosome
maplocation
descriptiongenetype
fnastatus
OtherdesignationsFeaturetype
8231960620190816
CND
MIM:304730X
Xq24-qter
Corneal dermoidsunknown
8233960620220522
ZRSR2
U2AF1-RS2|U2AF1L2|U2AF1RS2|URP|ZC3H22
ZRSR2
zinc finger CCCH-type, RNA binding motif and serine/arginine rich 2
MIM:300028|HGNC:HGNC:23019|Ensembl:ENSG00000169249|AllianceGenome:HGNC:23019X
Xp22.2
zinc finger CCCH-type, RNA binding motif and serine/arginine rich 2protein-coding
O
U2 small nuclear ribonucleoprotein auxiliary factor 35 kDa subunit-related protein 2|U2 small nuclear ribonucleoprotein auxiliary factor, small subunit 2|U2(RNU2) small nuclear RNA auxiliary factor 1-like 2|U2AF35-related protein|renal carcinoma antigen NY-REN-20|zinc finger (CCCH type), RNA binding motif and serine/arginine rich 2
8237960620220703
USP11
UHX1
USP11
ubiquitin specific peptidase 11
MIM:300050|HGNC:HGNC:12609|Ensembl:ENSG00000102226|AllianceGenome:HGNC:12609X
Xp11.3
ubiquitin specific peptidase 11protein-coding
O
ubiquitin carboxyl-terminal hydrolase 11|deubiquitinating enzyme 11|ubiquitin carboxyl-terminal hydrolase, X-linked|ubiquitin thioesterase 11|ubiquitin thiolesterase 11|ubiquitin-specific processing protease 11
8239960620220703
USP9X
DFFRX|FAF|FAM|MRX99|MRXS99F|XLID99
USP9X
ubiquitin specific peptidase 9 X-linked
MIM:300072|HGNC:HGNC:12632|Ensembl:ENSG00000124486|AllianceGenome:HGNC:12632X
Xp11.4
ubiquitin specific peptidase 9 X-linkedprotein-coding
O
probable ubiquitin carboxyl-terminal hydrolase FAF-X|Drosophila fat facets related, X-linked|deubiquitinating enzyme FAF-X|fat facets in mammals|fat facets protein related, X-linked|hFAM|ubiquitin specific protease 9, X chromosome (fat facets-like Drosophila)|ubiquitin thioesterase FAF-X|ubiquitin thiolesterase FAF-X|ubiquitin-specific processing protease FAF-X|ubiquitin-specific protease 9, X chromosome
8241960620220703
RBM10
DXS8237E|GPATC9|GPATCH9|S1-1|TARPS|ZRANB5
RBM10
RNA binding motif protein 10
MIM:300080|HGNC:HGNC:9896|Ensembl:ENSG00000182872|AllianceGenome:HGNC:9896X
Xp11.3
RNA binding motif protein 10protein-coding
O
RNA-binding protein 10|RNA-binding protein S1-1|epididymis secretory sperm binding protein|g patch domain-containing protein 9
8242960620220623
KDM5C
DXS1272E|JARID1C|MRX13|MRXJ|MRXSCJ|MRXSJ|SMCX|XE169
KDM5C
lysine demethylase 5C
MIM:314690|HGNC:HGNC:11114|Ensembl:ENSG00000126012|AllianceGenome:HGNC:11114X
Xp11.22
lysine demethylase 5Cprotein-coding
O
lysine-specific demethylase 5C|JmjC domain-containing protein SMCX|Jumonji, AT rich interactive domain 1C (RBP2-like)|Jumonji/ARID domain-containing protein 1C|Smcx homolog, X chromosome|Smcy homolog, X-linked|[histone H3]-trimethyl-L-lysine(4) demethylase 5C|histone demethylase JARID1C|lysine (K)-specific demethylase 5C
8243960620220707
SMC1A
CDLS2|DEE85|DXS423E|EIEE85|SB1.8|SMC1|SMC1L1|SMC1alpha|SMCB
SMC1A
structural maintenance of chromosomes 1A
MIM:300040|HGNC:HGNC:11111|Ensembl:ENSG00000072501|AllianceGenome:HGNC:11111X
Xp11.22
structural maintenance of chromosomes 1Aprotein-coding
O
structural maintenance of chromosomes protein 1A|SMC protein 1A|SMC-1-alpha|SMC1 (structural maintenance of chromosomes 1, yeast)-like 1|epididymis secretory sperm binding protein|segregation of mitotic chromosomes 1
8245960620190816
IDDMX
MIM:300136X
Xp11
Diabetes mellitus, insulin-dependent, X-linked, susceptibility tounknown
8246960620190816
MRXS12
MIM:309545X
Xp11
Mental retardation, X-linked, syndromic 12unknown
8249960620190816
MGR2
MFTS
MIM:300125X
Xq
Migraine, familial typical, susceptibility tounknown
8251960620220513
HNRNPDP1
AUF1B|AUF1P|HNRNPDP|HNRPDP
HNRNPDP1
heterogeneous nuclear ribonucleoprotein D pseudogene 1
HGNC:HGNC:5038|AllianceGenome:HGNC:5038X
Xq11.2
heterogeneous nuclear ribonucleoprotein D pseudogene 1pseudo
O
AU-rich element RNA-binding protein 1, type B|heterogeneous nuclear ribonucleoprotein D (AU-rich element RNA binding protein 1, 37kDa) pseudogene 1
8255960620190816
BZX
BDCS
MIM:301845X
Xq24-q27
Bazex syndromeunknown
8258960620220409
GUST
MIM:309555X
Xq26
Gustavson mental retardation syndrome (with microcephaly, opticunknown
8259960620190816
INDX
MIM:300076X
Xq26-qter
Immunoneurologic syndrome X-linked, of Wood, Black, and Norburyunknown
8260960620220703
NAA10
ARD1|ARD1A|ARD1P|DXS707|MCOPS1|NATD|OGDNS|TE2|hARD1
NAA10
N-alpha-acetyltransferase 10, NatA catalytic subunit
MIM:300013|HGNC:HGNC:18704|Ensembl:ENSG00000102030|AllianceGenome:HGNC:18704X
Xq28
N-alpha-acetyltransferase 10, NatA catalytic subunitprotein-coding
O
N-alpha-acetyltransferase 10|ARD1 homolog A, N-acetyltransferase|N-acetyltransferase ARD1, human homolog of|N-terminal acetyltransferase complex ARD1 subunit homolog A|arrest defective protein 1|natA catalytic subunit Naa10
8263960620220605
F8A1
DXS522E|F8A|HAP40
F8A1
coagulation factor VIII associated 1
MIM:305423|HGNC:HGNC:3547|Ensembl:ENSG00000288722|AllianceGenome:HGNC:3547X
Xq28
coagulation factor VIII associated 1protein-coding
O
40-kDa huntingtin-associated protein|coagulation factor VIII-associated (intronic transcript) 1|cpG island protein|factor VIII associated protein|factor VIII intron 22 protein|huntingtin-associated protein 40
8266960620220703
UBL4A
DX254E|DXS254E|G6PD|GDX|GET5|MDY2|TMA24|UBL4
UBL4A
ubiquitin like 4A
MIM:312070|HGNC:HGNC:12505|Ensembl:ENSG00000102178|AllianceGenome:HGNC:12505X
Xq28
ubiquitin like 4Aprotein-coding
O
ubiquitin-like protein 4A|ubiquitin-like 4|ubiquitin-like protein GDX
8268960620170402
IPOX
CIIP|CIIPX
MIM:300048
Intestinal pseudoobstruction, neuronal, primary idiopathicunknown
8269960620220513
TMEM187
CXorf12|DXS9878E|ITBA1
TMEM187
transmembrane protein 187
MIM:300059|HGNC:HGNC:13705|Ensembl:ENSG00000177854|AllianceGenome:HGNC:13705X
Xq28
transmembrane protein 187protein-coding
O
8270960620220513
LAGE3
CVG5|DXS9879E|DXS9951E|ESO3|GAMOS2|ITBA2|Pcc1
LAGE3
L antigen family member 3
MIM:300060|HGNC:HGNC:26058|Ensembl:ENSG00000196976|AllianceGenome:HGNC:26058X
Xq28
L antigen family member 3protein-coding
O
EKC/KEOPS complex subunit LAGE3|protein ESO-3
8273960620220513
SLC10A3
DXS253E|P3
SLC10A3
solute carrier family 10 member 3
MIM:312090|HGNC:HGNC:22979|Ensembl:ENSG00000126903|AllianceGenome:HGNC:22979X
Xq28
solute carrier family 10 member 3protein-coding
O
P3 protein|Protein P3|solute carrier family 10 (sodium/bile acid cotransporter family), member 3
8277960620220513
TKTL1
TKR|TKT2
TKTL1
transketolase like 1
MIM:300044|HGNC:HGNC:11835|Ensembl:ENSG00000007350|AllianceGenome:HGNC:11835X
Xq28
transketolase like 1protein-coding
O
transketolase-like protein 1|TK 2|transketolase-2|transketolase-related protein
8284960620220522
KDM5D
HY|HYA|JARID1D|SMCY
KDM5D
lysine demethylase 5D
MIM:426000|HGNC:HGNC:11115|Ensembl:ENSG00000012817|AllianceGenome:HGNC:11115Y
Yq11.223
lysine demethylase 5Dprotein-coding
O
lysine-specific demethylase 5D|H-Y|Jumonji, AT rich interactive domain 1D (RBP2-like)|SMC homolog, Y chromosome|Smcy homolog, Y-linked|[histone H3]-trimethyl-L-lysine(4) demethylase 5D|epididymis secretory sperm binding protein|histocompatibility Y antigen|histone demethylase JARID1D|jumonji/ARID domain-containing protein 1D|lysine (K)-specific demethylase 5D|protein SmcY|selected mouse cDNA on Y, human homolog of
8287960620220513
USP9Y
DFFRY|SPGFY2
USP9Y
ubiquitin specific peptidase 9 Y-linked
MIM:400005|HGNC:HGNC:12633|Ensembl:ENSG00000114374|AllianceGenome:HGNC:12633Y
Yq11.221
ubiquitin specific peptidase 9 Y-linkedprotein-coding
O
probable ubiquitin carboxyl-terminal hydrolase FAF-Y|azoospermia factor A|deubiquitinating enzyme FAF-Y|fat facets protein-related, Y-linked|ubiquitin specific peptidase 9, Y-linked (fat facets-like, Drosophila)|ubiquitin thioesterase FAF-Y|ubiquitin thiolesterase FAF-Y|ubiquitin-specific processing protease FAF-Y|ubiquitin-specific protease 9, Y chromosome
8288960620220707
EPX
EPO|EPP|EPX-PEN|EPXD
EPX
eosinophil peroxidase
MIM:131399|HGNC:HGNC:3423|Ensembl:ENSG00000121053|AllianceGenome:HGNC:342317
17q22
eosinophil peroxidaseprotein-coding
O
8289960620220718
ARID1A
B120|BAF250|BAF250a|BM029|C1orf4|CSS2|ELD|MRD14|OSA1|P270|SMARCF1|hELD|hOSA1
ARID1A
AT-rich interaction domain 1A
MIM:603024|HGNC:HGNC:11110|Ensembl:ENSG00000117713|AllianceGenome:HGNC:111101
1p36.11
AT-rich interaction domain 1Aprotein-coding
O
AT-rich interactive domain-containing protein 1A|ARID domain-containing protein 1A|AT rich interactive domain 1A (SWI-like)|BRG1-associated factor 250a|OSA1 nuclear protein|SWI-like protein|SWI/SNF complex protein p270|SWI/SNF-related, matrix-associated, actin-dependent regulator of chromatin subfamily F member 1|brain protein 120|chromatin remodeling factor p250|osa homolog 1
8290960620220615
H3-4
H3.4|H3/g|H3C16|H3FT|H3t|HIST3H3
H3-4
H3.4 histone, cluster member
MIM:602820|HGNC:HGNC:4778|Ensembl:ENSG00000168148|AllianceGenome:HGNC:47781
1q42.13
H3.4 histone, cluster memberprotein-coding
O
histone H3.1t|H3 clustered histone 16|H3 histone family, member T|H3.4 histone|H3/t|histone 3, H3|histone H3.4|histone cluster 3 H3
8291960620220718
DYSF
FER1L1|LGMD2B|LGMDR2|MMD1
DYSF
dysferlin
MIM:603009|HGNC:HGNC:3097|Ensembl:ENSG00000135636|AllianceGenome:HGNC:30972
2p13.2
dysferlinprotein-coding
O
dysferlin|dystrophy-associated fer-1-like 1|fer-1-like family member 1|fer-1-like protein 1|limb girdle muscular dystrophy 2B (autosomal recessive)
8292960620220522
COLQ
CMS5|EAD
COLQ
collagen like tail subunit of asymmetric acetylcholinesterase
MIM:603033|HGNC:HGNC:2226|Ensembl:ENSG00000206561|AllianceGenome:HGNC:22263
3p25.1
collagen like tail subunit of asymmetric acetylcholinesteraseprotein-coding
O
acetylcholinesterase collagenic tail peptide|AChE Q subunit|acetylcholinesterase-associated collagen|collagen-like tail subunit (single strand of homotrimer) of asymmetric acetylcholinesterase|collagenic tail of endplate acetylcholinesterase|single strand of homotrimeric collagen-like tail subunit of asymmetric acetylcholinesterase
8293960620220513
SERF1A
4F5|FAM2A|H4F5|SERF1|SMAM1
SERF1A
small EDRK-rich factor 1A
MIM:603011|HGNC:HGNC:10755|Ensembl:ENSG00000172058|AllianceGenome:HGNC:107555
5q13.2
small EDRK-rich factor 1Aprotein-coding
O
small EDRK-rich factor 1|SMA modifier 1|protein 4F5|small EDRK-rich factor 1A (telomeric)|spinal muscular atrophy-related gene H4F5
8294960620220723
H4C9
H4-16|H4/m|H4C1|H4C11|H4C12|H4C13|H4C14|H4C15|H4C2|H4C3|H4C4|H4C5|H4C6|H4C8|H4FM|H4M|HIST1H4I|TEVANED4
H4C9
H4 clustered histone 9
MIM:602833|HGNC:HGNC:4793|Ensembl:ENSG00000276180|AllianceGenome:HGNC:47936
6p22.1
H4 clustered histone 9protein-coding
O
histone H4|H4 histone family, member M|Histone 4 family, member M|histone 1, H4i|histone cluster 1 H4 family member i|histone cluster 1, H4i|histone family member
8295960620220707
TRRAP
DEDDFA|DFNA75|PAF350/400|PAF400|STAF40|TR-AP|Tra1
TRRAP
transformation/transcription domain associated protein
MIM:603015|HGNC:HGNC:12347|Ensembl:ENSG00000196367|AllianceGenome:HGNC:123477
7q22.1
transformation/transcription domain associated proteinprotein-coding
O
transformation/transcription domain-associated protein|350/400 kDa PCAF-associated factor|tra1 homolog
8301960620220703
PICALM
CALM|CLTH|LAP
PICALM
phosphatidylinositol binding clathrin assembly protein
MIM:603025|HGNC:HGNC:15514|Ensembl:ENSG00000073921|AllianceGenome:HGNC:1551411
11q14.2
phosphatidylinositol binding clathrin assembly proteinprotein-coding
O
phosphatidylinositol-binding clathrin assembly protein|clathrin assembly lymphoid myeloid leukemia protein
8302960620220703
KLRC4
NKG2-F|NKG2F
KLRC4
killer cell lectin like receptor C4
MIM:602893|HGNC:HGNC:6377|Ensembl:ENSG00000183542|AllianceGenome:HGNC:637712
12p13.2
killer cell lectin like receptor C4protein-coding
O
NKG2-F type II integral membrane protein|NK cell receptor F|NKG2-F-activating NK receptor|killer cell lectin-like receptor subfamily C, member 4|natual killer cell group 2-F
8303960620220513
SNN
SNN
stannin
MIM:603032|HGNC:HGNC:11149|Ensembl:ENSG00000184602|AllianceGenome:HGNC:1114916
16p13.13
stanninprotein-coding
O
stannin|AG8_1
8309960620220513
ACOX2
BCOX|BRCACOX|BRCOX|CBAS6|THCCox
ACOX2
acyl-CoA oxidase 2
MIM:601641|HGNC:HGNC:120|Ensembl:ENSG00000168306|AllianceGenome:HGNC:1203
3p14.3
acyl-CoA oxidase 2protein-coding
O
peroxisomal acyl-coenzyme A oxidase 2|3-alpha,7-alpha,12-alpha-trihydroxy-5-beta-cholestanoyl-CoA 24-hydroxylase|3-alpha,7-alpha,12-alpha-trihydroxy-5-beta-cholestanoyl-CoA oxidase|THCA-CoA oxidase|acyl-CoA oxidase 2, branched chain|acyl-Coenzyme A oxidase 2, branched chain|branched chain acyl-CoA oxidase|peroxisomal branched chain acyl-CoA oxidase|trihydroxycoprostanoyl-CoA oxidase
8310960620220513
ACOX3
ACOX3
acyl-CoA oxidase 3, pristanoyl
MIM:603402|HGNC:HGNC:121|Ensembl:ENSG00000087008|AllianceGenome:HGNC:1214
4p16.1
acyl-CoA oxidase 3, pristanoylprotein-coding
O
peroxisomal acyl-coenzyme A oxidase 3|BRCACox|acyl-Coenzyme A oxidase 3, pristanoyl|branched-chain acyl-CoA oxidase|pristanoyl-CoA oxidase
8312960620220623
AXIN1
AXIN|PPP1R49
AXIN1
axin 1
MIM:603816|HGNC:HGNC:903|Ensembl:ENSG00000103126|AllianceGenome:HGNC:90316
16p13.3
axin 1protein-coding
O
axin-1|axis inhibition protein 1|axis inhibitor 1|fused, mouse, homolog of|protein phosphatase 1, regulatory subunit 49
8313960620220612
AXIN2
AXIL|ODCRCS
AXIN2
axin 2
MIM:604025|HGNC:HGNC:904|Ensembl:ENSG00000168646|AllianceGenome:HGNC:90417
17q24.1
axin 2protein-coding
O
axin-2|axin-like protein|axis inhibition protein 2|conductin
8314960620220718
BAP1
HUCEP-13|KURIS|UCHL2|hucep-6
BAP1
BRCA1 associated protein 1
MIM:603089|HGNC:HGNC:950|Ensembl:ENSG00000163930|AllianceGenome:HGNC:9503
3p21.1
BRCA1 associated protein 1protein-coding
O
ubiquitin carboxyl-terminal hydrolase BAP1|BRCA1 associated protein-1 (ubiquitin carboxy-terminal hydrolase)|cerebral protein 6|cerebral protein-13
8315960620220605
BRAP
BRAP2|IMP|RNF52
BRAP
BRCA1 associated protein
MIM:604986|HGNC:HGNC:1099|Ensembl:ENSG00000089234|AllianceGenome:HGNC:109912
12q24.12
BRCA1 associated proteinprotein-coding
O
BRCA1-associated protein|RING finger protein 52|RING-type E3 ubiquitin transferase BRAP2|galectin-2-binding protein|impedes mitogenic signal propagation|renal carcinoma antigen NY-REN-63
8317960620220522
CDC7
CDC7L1|HsCDC7|Hsk1|huCDC7
CDC7
cell division cycle 7
MIM:603311|HGNC:HGNC:1745|Ensembl:ENSG00000097046|AllianceGenome:HGNC:17451
1p22.2-p22.1
cell division cycle 7protein-coding
O
cell division cycle 7-related protein kinase|CDC7 (cell division cycle 7, S. cerevisiae, homolog)-like 1|CDC7-related kinase|cell division cycle 7 homolog|cell division cycle 7-like protein 1|epididymis secretory sperm binding protein
8318960620220703
CDC45
CDC45L|CDC45L2|MGORS7|PORC-PI-1
CDC45
cell division cycle 45
MIM:603465|HGNC:HGNC:1739|Ensembl:ENSG00000093009|AllianceGenome:HGNC:173922
22q11.21
cell division cycle 45protein-coding
O
cell division control protein 45 homolog|CDC45 cell division cycle 45 homolog|CDC45 cell division cycle 45-like|CDC45-related protein|cell division cycle 45 homolog|cell division cycle 45-like 2|human CDC45
8320960620220703
EOMES
TBR2
EOMES
eomesodermin
MIM:604615|HGNC:HGNC:3372|Ensembl:ENSG00000163508|AllianceGenome:HGNC:33723
3p24.1
eomesoderminprotein-coding
O
eomesodermin homolog|T-box brain protein 2
8321960620220626
FZD1
FZD1
frizzled class receptor 1
MIM:603408|HGNC:HGNC:4038|Ensembl:ENSG00000157240|AllianceGenome:HGNC:40387
7q21.13
frizzled class receptor 1protein-coding
O
frizzled-1|Wnt receptor|frizzled 1, seven transmembrane spanning receptor|frizzled family receptor 1|frizzled homolog 1|frizzled, Drosophila, homolog of, 1|fz-1|fzE1|hFz1
8322960620220623
FZD4
CD344|EVR1|FEVR|FZD4S|Fz-4|Fz4|FzE4|GPCR|hFz4
FZD4
frizzled class receptor 4
MIM:604579|HGNC:HGNC:4042|Ensembl:ENSG00000174804|AllianceGenome:HGNC:404211
11q14.2
frizzled class receptor 4protein-coding
O
frizzled-4|WNT receptor frizzled-4|frizzled 4, seven transmembrane spanning receptor|frizzled family receptor 4|frizzled homolog 4
8323960620220513
FZD6
FZ-6|FZ6|HFZ6|NDNC1|NDNC10
FZD6
frizzled class receptor 6
MIM:603409|HGNC:HGNC:4044|Ensembl:ENSG00000164930|AllianceGenome:HGNC:40448
8q22.3
frizzled class receptor 6protein-coding
O
frizzled-6|frizzled 6, seven transmembrane spanning receptor|frizzled family receptor 6|frizzled homolog 6|seven transmembrane helix receptor
8324960620220626
FZD7
FzE3
FZD7
frizzled class receptor 7
MIM:603410|HGNC:HGNC:4045|Ensembl:ENSG00000155760|AllianceGenome:HGNC:40452
2q33.1
frizzled class receptor 7protein-coding
O
frizzled-7|Frizzled, drosophila, homolog of, 7|frizzled 7, seven transmembrane spanning receptor|frizzled family receptor 7|frizzled homolog 7|fz-7|hFz7
8325960620220703
FZD8
FZ-8|hFZ8
FZD8
frizzled class receptor 8
MIM:606146|HGNC:HGNC:4046|Ensembl:ENSG00000177283|AllianceGenome:HGNC:404610
10p11.21
frizzled class receptor 8protein-coding
O
frizzled-8|frizzled 8, seven transmembrane spanning receptor|frizzled family receptor 8|frizzled homolog 8
8326960620220513
FZD9
CD349|FZD3
FZD9
frizzled class receptor 9
MIM:601766|HGNC:HGNC:4047|Ensembl:ENSG00000188763|AllianceGenome:HGNC:40477
7q11.23
frizzled class receptor 9protein-coding
O
frizzled-9|frizzled 9, seven transmembrane spanning receptor|frizzled family receptor 9|frizzled homolog 9|fz-9|fzE6|hFz9
 
 
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