| Type | Description |
|---|---|
| Definition | chromosome 12 open reading frame 57 |
| Date | Results | Publications |
|---|---|---|
| 2015-04-04 10:45:00 | Exome sequencing identifies compound heterozygous mutations in C12orf57 in two siblings with severe intellectual disability, hypoplasia of the corpus callosum, chorioretinal coloboma, and intractable seizures. | 24798461 |
| 2013-08-31 10:39:00 | The findings strongly support the candidacy of C12orf57 as a gene that is mutated in a distinct syndromic form of colobomatous microphthalmia in humans. | 23453665 |
| 2009-03-25 21:36:00 | Observational study of gene-disease association. (HuGE Navigator) | 19204726 |
| Type | IDs |
|---|---|
| Synonymous | C10, GRCC10 |
| Gene |
UniProtKB-ID:
C10_HUMAN,
U3KQ85_HUMAN,
F5GXW5_HUMAN
UniprotKB:
Q99622,
U3KQ85,
F5GXW5
UniParc:
UPI000204AA05,
UPI00001FBF8C,
UPI0000126B9B
EMBL:
AK311912,
CH471116,
BC009925,
U47924
Ensembl:
ENSG00000111678
KO:
hsa:113246
|
| Nucleutide sequences |
EMBL-CDS:
AAB51329.1,
EAW88705.1,
AAH09925.1,
BAG34853.1
Ensembl_TRS:
ENST00000229281,
ENST00000545581,
ENST00000540506,
ENST00000537087
|
| Protein sequencees |
Ensembl_PRO:
ENSP00000229281,
ENSP00000440602,
ENSP00000475635,
ENSP00000440937
RefSeq:
NP_001288766.1,
NP_001288765.1,
NP_001288763.1,
NP_001288767.1,
NP_612434.1
|
| Others |
UniRef100:
UniRef100_Q99622,
UniRef100_F5GXW5
UniRef90:
UniRef90_Q99622
UniRef50:
UniRef50_Q99622
UniGene:
Hs.405913
CCDS:
CCDS8571.1
|
| {{proteinIndex+1}} | mRNA | Protein | UniprotKB | Description | ||||
|---|---|---|---|---|---|---|---|---|
| Refseq |
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| Conserved domain | Region: {{conservedDomain.region == '' || conservedDomain.region == null ? "-": conservedDomain.region}} GFID: {{conservedDomain.gfid == '' || conservedDomain.gfid == null ? "-": conservedDomain.gfid}} Family: {{conservedDomain.family == '' || conservedDomain.family == null ? "-": conservedDomain.family}} CDD: {{conservedDomain.cdd}} - |
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