PHIP
Chr 6ADpleckstrin homology domain interacting protein
This gene encodes a protein that regulates insulin and insulin-like growth factor signaling pathways, stimulates cell proliferation through cyclin transcription regulation, and has anti-apoptotic activity through AKT1 phosphorylation. Mutations cause Chung-Jansen syndrome, an autosomal dominant neurodevelopmental disorder. The gene is highly constrained against loss-of-function variants (pLI ~1.0, LOEUF 0.113), indicating intolerance to protein-disrupting mutations.
Definitive — sufficient evidence for diagnostic panels
Some data sources returned errors (1)
ncbi: Error: NCBI fetch failed: 429 https://eutils.ncbi.nlm.nih.gov/entrez/eutils/esummary.fcgi
Population Genetics & Constraint
gnomAD v4 — loss-of-function & missense intolerance
Among the most LoF-intolerant genes (~top 3%)
Extremely missense-constrained (top ~0.01%)
The highest-scoring mechanism for this gene is loss-of-function (haploinsufficiency).
Literature Evidence
Predictions from Badonyi M, Marsh JA. PLoS ONE. 2024;19(8):e0307312. Mechanism ranking also informed by gnomAD constraint, ClinVar, and ClinGen data.
ClinVar Variant Classifications
0 submitted variants in ClinVar
Protein Context — Lollipop Plot
PHIP · protein map & ClinVar variants
Showing all ClinVar variants across the protein. Search a specific variant to highlight its position.
3D Protein StructureAlphaFold
External Resources
Links to major genomics databases and tools
Clinical Trials
Active and recruiting trials from ClinicalTrials.gov
Exercise to Fight Obesity
RECRUITINGOnline Study of People Who Have Genetic Changes and Features of Autism: Simons Searchlight
RECRUITINGExternal Resources
Links to major genomics databases and tools