WDPCP |
- 30
Haplo
Score - 0
Triplo
Score
Gene Facts External Data Attribution
- HGNC Symbol
- WDPCP (HGNC:28027) HGNC Entrez Ensembl OMIM UCSC Uniprot GeneReviews LOVD LSDB ClinVar
- HGNC Name
- WD repeat containing planar cell polarity effector
- Gene type
- protein-coding gene
- Locus type
- gene with protein product
- Previous symbols
- C2orf86
- Alias symbols
- hFrtz, fritz, BBS15, CPLANE5
- %HI
- 24.69(Read more about the DECIPHER Haploinsufficiency Index)
- pLI
- 0(Read more about gnomAD pLI score)
- LOEUF
- 0.78(Read more about gnomAD LOEUF score)
- Cytoband
- 2p15
- Genomic Coordinates
-
GRCh37/hg19: chr2:63346694-63815611 NCBI Ensembl UCSC GRCh38/hg38: chr2:63119559-63840826 NCBI Ensembl UCSC - MANE Select Transcript
- NM_015910.7 ENST00000272321.12 (Read more about MANE Select)
- Function
- Probable effector of the planar cell polarity signaling pathway which regulates the septin cytoskeleton in both ciliogenesis and collective cell movements. Together with FUZ and WDPCP proposed to function as core component of the CPLANE (ciliogenesis and planar polarity effectors) complex involved in the recruitment of peripheral IFT-A proteins to basal bodies (By similarity). {ECO:0000250|UniProtKB:Q32NR9, ECO:0000250|UniProtKB:Q8C456}. (Source: Uniprot)
Dosage Sensitivity Summary (Gene)
Dosage ID:
ISCA-24431
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:
- heart defect - tongue hamartoma - polysyndactyly syndrome Monarch
Triplosensitivity (TS) Score Details
TS Score:
0
TS Evidence Strength:
No Evidence for Triplosensitivity (Disclaimer)
Genomic View
Select assembly:
(NC_000002.11)
(NC_000002.12)