| Type | Description |
|---|---|
| Definition | centrosomal protein 41 |
| Date | Results | Publications |
|---|---|---|
| 2019-06-15 12:21:00 | Missense variants in one gene, CEP41, associated significantly with Autism Spectrum Disorder (ASD). Homozygous gene-disrupting variants in CEP41 were initially found to be responsible for recessive Joubert syndrome. | 30664616 |
| 2012-08-18 11:02:00 | In cortices, the MEST promoter was hemimethylated, as expected for a differentially methylated imprinting control region, whereas the COPG2 and TSGA14 promoters were completely demethylated, typical for transcriptionally active non-imprinted genes. | 22456293 |
| 2012-03-31 10:05:00 | The data identified CEP41 mutations as a cause of Joubert syndrome and implicated tubulin post-translational modification in the pathogenesis of human ciliary dysfunction. | 22246503 |
| 2011-07-16 10:50:00 | Three rare potentially pathogenic variants were identified in the TSGA14 gene, which encodes a centrosomal protein. | 21438139 |
| Type | IDs |
|---|---|
| Synonymous | JBTS15, TSGA14 |
| Gene |
UniProtKB-ID:
CEP41_HUMAN
UniprotKB:
Q9BYV8
UniParc:
UPI000006FCC6,
UPI00001B9209,
UPI000006D546,
UPI0002064F54
EMBL:
AC007938,
BC056162,
AK298618,
AF429308,
CH236950,
AY186739,
CH471070,
AL359617,
AK026098,
AJ278890,
AF429309,
AK314676
Ensembl:
ENSG00000106477
KO:
hsa:95681
|
| Nucleutide sequences |
EMBL-CDS:
CAC33567.1,
AAM43959.1,
CAB94886.1,
AAO31692.1,
AAM43960.1,
AAH56162.1,
EAL24088.1,
BAB15359.1,
BAG37230.1,
EAW83764.1,
BAG60797.1
Ensembl_TRS:
ENST00000343969,
ENST00000541543,
ENST00000616628,
ENST00000489512,
ENST00000223208
|
| Protein sequencees |
Ensembl_PRO:
ENSP00000342738,
ENSP00000223208,
ENSP00000417815,
ENSP00000445888,
ENSP00000479252
RefSeq:
XP_011515011.1,
NP_001244087.1,
NP_061188.1,
XP_011515012.1,
NP_001244089.1,
NP_001244088.1,
XP_024302772.1
|
| Others |
UniRef100:
UniRef100_Q9BYV8
UniRef90:
UniRef90_Q9BYV8
UniRef50:
UniRef50_Q9BYV8
UniGene:
Hs.368315
CCDS:
CCDS59079.1,
CCDS5821.1,
CCDS59078.1,
CCDS59080.1
|
| {{proteinIndex+1}} | mRNA | Protein | UniprotKB | Description | ||||
|---|---|---|---|---|---|---|---|---|
| Refseq |
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