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CEP290 |
Gene Facts External Data Attribution
- HGNC Symbol
- CEP290 (HGNC:29021) HGNC Entrez Ensembl OMIM UCSC Uniprot GeneReviews LOVD LSDB ClinVar
- HGNC Name
- centrosomal protein 290
- Gene type
- protein-coding gene
- Locus type
- gene with protein product
- Previous symbols
- No previous names found
- Alias symbols
- KIAA0373, FLJ13615, 3H11Ag, rd16, NPHP6, JBTS5, SLSN6, LCA10, MKS4, BBS14, CT87, POC3
- %HI
- 13.34(Read more about the DECIPHER Haploinsufficiency Index)
- pLI
- 0(Read more about gnomAD pLI score)
- LOEUF
- 1.1(Read more about gnomAD LOEUF score)
- Cytoband
- 12q21.32
- Genomic Coordinates
-
GRCh37/hg19: chr12:88442793-88535865 NCBI Ensembl UCSC GRCh38/hg38: chr12:88049016-88142088 NCBI Ensembl UCSC - MANE Select Transcript
- NM_025114.4 ENST00000552810.6 (Read more about MANE Select)
- Function
- Involved in early and late steps in cilia formation. Its association with CCP110 is required for inhibition of primary cilia formation by CCP110 (PubMed:18694559). May play a role in early ciliogenesis in the disappearance of centriolar satellites and in the transition of primary ciliar vesicles (PCVs) to capped ciliary vesicles (CCVs). Required for the centrosomal recruitment of RAB8A and for the targeting of centriole satellite proteins to centrosomes such as of PCM1 (PubMed:24421332). Require... (Source: Uniprot)
Dosage Sensitivity Summary (Gene)
Dosage ID:
ISCA-44753
ClinGen Curation ID:
CCID:006839
Curation Status:
Awaiting Review
Issue Type:
Dosage Curation -
Gene
Haploinsufficiency:
Awaiting Review
Triplosensitivity:
Awaiting Review
Last Evaluated:
Awaiting Review
Haploinsufficiency (HI) Score Details
Review not yet complete.
Triplosensitivity (TS) Score Details
Review not yet complete.
Genomic View
Select assembly:
(NC_000012.11)
(NC_000012.12)
