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)
Read full report...
Triplosensitivity:
No Evidence for Triplosensitivity (0)
Read full report...
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)