INPP5E
  • 30
    Haplo
    Score
  • 0
    Triplo
    Score

Gene Facts External Data Attribution

HGNC Symbol
INPP5E (HGNC:21474) HGNC Entrez Ensembl OMIM UCSC Uniprot GeneReviews LOVD LSDB ClinVar
HGNC Name
inositol polyphosphate-5-phosphatase E
Gene type
protein-coding gene
Locus type
gene with protein product
Previous symbols
JBTS1
Alias symbols
PPI5PIV, CORS1, pharbin
%HI
77.32(Read more about the DECIPHER Haploinsufficiency Index)
pLI
0(Read more about gnomAD pLI score)
LOEUF
1.18(Read more about gnomAD LOEUF score)
Cytoband
9q34.3
Genomic Coordinates
GRCh37/hg19: chr9:139323071-139334297 NCBI Ensembl UCSC
GRCh38/hg38: chr9:136428619-136439845 NCBI Ensembl UCSC
MANE Select Transcript
NM_019892.6 ENST00000371712.4 (Read more about MANE Select)
Function
Phosphatidylinositol (PtdIns) phosphatase that specifically hydrolyzes the 5-phosphate of phosphatidylinositol-3,4,5-trisphosphate (PtdIns(3,4,5)P3), phosphatidylinositol 4,5-bisphosphate (PtdIns(4,5)P2) and phosphatidylinositol 3,5-bisphosphate (PtdIns(3,5)P2) (PubMed:10764818) (By similarity). Specific for lipid substrates, inactive towards water soluble inositol phosphates (PubMed:10764818). Plays an essential role in the primary cilium by controlling ciliary growth and phosphoinositide 3-kin... (Source: Uniprot)

Dosage Sensitivity Summary (Gene)

Dosage ID:
ISCA-2914
ClinGen Curation ID:
CCID:007328
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_000009.11) (NC_000009.12)