| Type | Description |
|---|---|
| Definition | cyclin Q |
| Date | Results | Publications |
|---|---|---|
| 2017-11-11 12:37:00 | These ophthalmic findings are the first reported to our knowledge in association with STAR syndrome. The literature frequently demonstrates that patients with developmental anomalies often have ocular manifestations, warranting a full ophthalmic examination when the diagnosis of STAR syndrome has been made or is being considered. | 26882209 |
| 2017-05-13 19:23:00 | this is the first occurrence of a nonsense variant in FAM58A described in individuals with STAR syndrome and the phenotype in this pedigree suggests that tethered cord and hearing loss are features of STAR syndrome. | 28322501 |
| 2010-01-21 00:00:00 | Mutations in the cyclin family member FAM58A cause an X-linked dominant disorder characterized by syndactyly, telecanthus and anogenital and renal malformations. | 18297069 |
| Type | IDs |
|---|---|
| Synonymous | FAM58A |
| Gene |
UniProtKB-ID:
CCNQ_HUMAN
UniprotKB:
Q8N1B3
UniParc:
UPI0001761632,
UPI0000D47535
EMBL:
BC032121,
BC001909,
AY445048,
DQ323993,
BC007232,
BC071851
Ensembl:
ENSG00000262919
KO:
hsa:92002
|
| Nucleutide sequences |
EMBL-CDS:
AAH01909.4,
AAH07232.4,
AAH32121.1,
ABC88595.1,
AAS20614.1,
AAH71851.1
Ensembl_TRS:
ENST00000440428,
ENST00000576892
|
| Protein sequencees |
Ensembl_PRO:
ENSP00000461135,
ENSP00000402949
RefSeq:
NP_689487.2,
NP_001124469.1,
XP_005277977.1,
XP_005277978.1,
XP_011529516.1,
XP_011529517.1
|
| Others |
UniRef100:
UniRef100_Q8N1B3
UniRef90:
UniRef90_Q8N1B3
UniRef50:
UniRef50_Q8N1B3
UniGene:
Hs.496943
CCDS:
CCDS76054.1
|
| {{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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