CPLANE1
  • 30
    Haplo
    Score
  • 0
    Triplo
    Score

Gene Facts External Data Attribution

HGNC Symbol
CPLANE1 (HGNC:25801) HGNC Entrez Ensembl OMIM UCSC Uniprot GeneReviews LOVD LSDB ClinVar
HGNC Name
ciliogenesis and planar polarity effector complex subunit 1
Gene type
protein-coding gene
Locus type
gene with protein product
Previous symbols
C5orf42
Alias symbols
FLJ13231, JBTS17, Hug
%HI
76.94(Read more about the DECIPHER Haploinsufficiency Index)
pLI
0(Read more about gnomAD pLI score)
LOEUF
0.73(Read more about gnomAD LOEUF score)
Cytoband
5p13.2
Genomic Coordinates
GRCh37/hg19: chr5:37106337-37249478 NCBI Ensembl UCSC
GRCh38/hg38: chr5:37075669-37249376 NCBI Ensembl UCSC
MANE Select Transcript
NM_001384732.1 ENST00000651892.2 (Read more about MANE Select)
Function
Involved in ciliogenesis (PubMed:25877302). Involved in the establishment of cell polarity required for directional cell migration. Proposed to act in association with the CPLANE (ciliogenesis and planar polarity effectors) complex. Involved in recruitment of peripheral IFT- A proteins to basal bodies (By similarity). {ECO:0000250|UniProtKB:Q8CE72, ECO:0000305|PubMed:25877302}. (Source: Uniprot)

Dosage Sensitivity Summary (Gene)

Dosage ID:
ISCA-33833
ClinGen Curation ID:
CCID:006926
Curation Status:
Complete
Issue Type:
Dosage Curation - Gene
Haploinsufficiency:
Gene Associated with Autosomal Recessive Phenotype (30)
Read full report...
Triplosensitivity:
No Evidence for Triplosensitivity (0)
Read full report...
Last Evaluated:
08/22/2016

Haploinsufficiency (HI) Score Details

HI Score:
30
HI Evidence Strength:
Gene Associated with Autosomal Recessive Phenotype (Disclaimer)
HI Disease:

Triplosensitivity (TS) Score Details

TS Score:
0
TS Evidence Strength:
No Evidence for Triplosensitivity (Disclaimer)

Genomic View

Select assembly: (NC_000005.9) (NC_000005.10)