| Type | Description |
|---|---|
| Definition | Bardet-Biedl syndrome 10 |
| Date | Results | Publications |
|---|---|---|
| 2021-04-17 13:15:00 | BBS Proteins Affect Ciliogenesis and Are Essential for Hedgehog Signaling, but Not for Formation of iPSC-Derived RPE-65 Expressing RPE-Like Cells. | 33572860 |
| 2019-04-20 12:10:00 | A consanguineous patient with Bardet Biedl syndrome was found to be homozygous for the variant of BBS10: NM_024685.3, c.39_46delGGCGTTGC, p.Ala14GlyfsTer79 (A14Gfs*79). Several other members of the pedigree had obesity or other features associated with this syndrome. | 30335236 |
| 2018-09-29 10:33:00 | In the 64 BBS patients (44 males, 20 females) were studied, mutations were predominant in BBS10 and ARL6 genes; the c.272T>C; p.(I91T) mutation in ARL6 gene was a recurrent mutation | 29806606 |
| 2018-07-21 11:57:00 | Genetic analysis revealed compound heterozygous BBS10 mutations in the patient: a novel missense mutation c.98G>A | 29666954 |
| 2018-04-14 10:48:00 | Two novel mutations and three previously reported variants, identified in the present study, further extend the body of evidence implicating BBS6, BBS7, BBS8, and BBS10 in causing Bardet-Biedl Syndrome. | 28761321 |
| Type | IDs |
|---|---|
| Synonymous | C12orf58 |
| Gene |
UniProtKB-ID:
BBS10_HUMAN
UniprotKB:
Q8TAM1
UniParc:
UPI0000D720FE
EMBL:
BC013795,
BC026355,
AK027213
Ensembl:
ENSG00000179941
KO:
hsa:79738
|
| Nucleutide sequences |
EMBL-CDS:
AAH13795.1,
AAH26355.2,
BAB15695.1
Ensembl_TRS:
ENST00000650064
|
| Protein sequencees |
Ensembl_PRO:
ENSP00000497413
RefSeq:
NP_078961.3
|
| Others |
UniRef100:
UniRef100_Q8TAM1
UniRef90:
UniRef90_Q8TAM1
UniRef50:
UniRef50_Q8TAM1
UniGene:
Hs.96322
CCDS:
CCDS9014.2
|
| {{proteinIndex+1}} | mRNA | Protein | UniprotKB | Description | ||||
|---|---|---|---|---|---|---|---|---|
| Refseq |
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| Location | {{protein.contigId}} ( {{protein.positionStart}}..{{protein.positionEnd}} , {{protein.orientation}} ) | |||||||
| 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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