PIK3CA |
- 0
Haplo
Score - 0
Triplo
Score
Gene Facts External Data Attribution
- HGNC Symbol
- PIK3CA (HGNC:8975) HGNC Entrez Ensembl OMIM UCSC Uniprot GeneReviews LOVD LSDB ClinVar
- HGNC Name
- phosphatidylinositol-4,5-bisphosphate 3-kinase catalytic subunit alpha
- Gene type
- protein-coding gene
- Locus type
- gene with protein product
- Previous symbols
- No previous names found
- Alias symbols
- PI3K
- %HI
- 0.26(Read more about the DECIPHER Haploinsufficiency Index)
- pLI
- 1(Read more about gnomAD pLI score)
- LOEUF
- 0.22(Read more about gnomAD LOEUF score)
- Cytoband
- 3q26.32
- Genomic Coordinates
-
GRCh37/hg19: chr3:178866145-178957881 NCBI Ensembl UCSC GRCh38/hg38: chr3:179148126-179240093 NCBI Ensembl UCSC - MANE Select Transcript
- NM_006218.4 ENST00000263967.4 (Read more about MANE Select)
- Function
- Phosphoinositide-3-kinase (PI3K) phosphorylates phosphatidylinositol (PI) and its phosphorylated derivatives at position 3 of the inositol ring to produce 3-phosphoinositides (PubMed:15135396, PubMed:23936502, PubMed:28676499). Uses ATP and PtdIns(4,5)P2 (phosphatidylinositol 4,5-bisphosphate) to generate phosphatidylinositol 3,4,5-trisphosphate (PIP3) (PubMed:15135396, PubMed:28676499). PIP3 plays a key role by recruiting PH domain- containing proteins to the membrane, including AKT1 and PDPK1,... (Source: Uniprot)
Dosage Sensitivity Summary (Gene)
Dosage ID:
ISCA-6527
ClinGen Curation ID:
CCID:007668
Curation Status:
Complete
Issue Type:
Dosage Curation -
Gene
Haploinsufficiency:
No Evidence for Haploinsufficiency
(0)
Triplosensitivity:
No Evidence for Triplosensitivity
(0)
Last Evaluated:
03/12/2015
Haploinsufficiency (HI) Score Details
HI Score:
0
HI Evidence Strength:
No Evidence for Haploinsufficiency
(Disclaimer)
HI Evidence Comments:
At this time there is no evidence to support the haploinsufficiency of PIK3CA. Mutations in PIK3CA have been associated with Cowden syndrome 5 (OMIM # 615108), Clove syndrome (OMIM # 612918), and Megalencephaly-capillary malformation-polymicrogyria syndrome (OMIM # 602501); however these syndromes are associated with PIK3CA gain-of-function missense mutations. There are currently no reported whole gene deletions of PIK3CA.
Triplosensitivity (TS) Score Details
TS Score:
0
TS Evidence Strength:
No Evidence for Triplosensitivity (Disclaimer)
TS Evidence Comments:
At this time there is no evidence to support the triplosensitivity of PIK3CA.
Genomic View
Select assembly:
(NC_000003.11)
(NC_000003.12)