BBS12 |
- 30
Haplo
Score - 0
Triplo
Score
Gene Facts External Data Attribution
- HGNC Symbol
- BBS12 (HGNC:26648) HGNC Entrez Ensembl OMIM UCSC Uniprot GeneReviews LOVD LSDB ClinVar
- HGNC Name
- Bardet-Biedl syndrome 12
- Gene type
- protein-coding gene
- Locus type
- gene with protein product
- Previous symbols
- C4orf24
- Alias symbols
- FLJ35630, FLJ41559
- %HI
- 80.48(Read more about the DECIPHER Haploinsufficiency Index)
- pLI
- 0(Read more about gnomAD pLI score)
- LOEUF
- 1.42(Read more about gnomAD LOEUF score)
- Cytoband
- 4q27
- Genomic Coordinates
-
GRCh37/hg19: chr4:123653859-123666094 NCBI Ensembl UCSC GRCh38/hg38: chr4:122700442-122744939 NCBI Ensembl UCSC - MANE Select Transcript
- NM_152618.3 ENST00000314218.8 (Read more about MANE Select)
- Function
- Component of the chaperonin-containing T-complex (TRiC), a molecular chaperone complex that assists the folding of proteins upon ATP hydrolysis. As part of the TRiC complex may play a role in the assembly of BBSome, a complex involved in ciliogenesis regulating transports vesicles to the cilia (PubMed:20080638). Involved in adipogenic differentiation (PubMed:19190184). {ECO:0000269|PubMed:19190184, ECO:0000269|PubMed:20080638}. (Source: Uniprot)
Dosage Sensitivity Summary (Gene)
Dosage ID:
ISCA-5321
ClinGen Curation ID:
CCID:006734
Curation Status:
Complete
Issue Type:
Dosage Curation -
Gene
Haploinsufficiency:
Gene Associated with Autosomal Recessive Phenotype
(30)
Triplosensitivity:
No Evidence for Triplosensitivity
(0)
Last Evaluated:
08/22/2016
Haploinsufficiency (HI) Score Details
HI Score:
30
HI Evidence Strength:
Gene Associated with Autosomal Recessive Phenotype
(Disclaimer)
HI Disease:
- Bardet-Biedl syndrome 12 Monarch
Triplosensitivity (TS) Score Details
TS Score:
0
TS Evidence Strength:
No Evidence for Triplosensitivity (Disclaimer)
Genomic View
Select assembly:
(NC_000004.11)
(NC_000004.12)