FHIP1A

Chr 4

FHF complex subunit HOOK interacting protein 1A

Also known as: FAM160A1, FHIP-L

NCBI Gene: 729830ENSG00000164142UniProt: Q05DH4OMIM: 607820

Involved in protein localization to perinuclear region of cytoplasm. [provided by Alliance of Genome Resources, Jul 2025]

OMIMResearchGenerating clinical summary…
0
Active trials
0
Pubs (1 yr)
—
P/LP submissions
—
P/LP missense
0.62
LOEUF
DN
Mechanism· predicted

Population Genetics & Constraint

gnomAD v4 — loss-of-function & missense intolerance

gnomAD
Tolerant — LoF & missense variants common in population
LoF Constraint?
0.62LOEUF
pLI 0.000
Z-score 3.37
OE 0.40 (0.27–0.62)
Tolerant

Typical tolerance to LoF variation

Missense Constraint?
2.30Z-score
OE missense 0.73 (0.67–0.79)
403 obs / 555.7 exp
Mild constraint

Moderately missense-constrained (top ~2.5%)

Observed / Expected Ratios?
LoF OE?0.40 (0.27–0.62)
0≤0.351.4
Missense OE?0.73 (0.67–0.79)
0≤0.61.4
Synonymous OE?0.79
0≤1.21.6
LoF obs/exp: 15 / 37.2Missense obs/exp: 403 / 555.7Syn Z: 2.53

ClinVar Variant Classifications

0 submitted variants in ClinVar

ClinVar

Protein Context — Lollipop Plot

FHIP1A · protein map & ClinVar variants

Showing all ClinVar variants across the protein. Search a specific variant to highlight its position.

Clinical Trials

Active and recruiting trials from ClinicalTrials.gov

ClinicalTrials.gov

No active trials found for this gene.

Search ClinicalTrials.gov →

External Resources

Links to major genomics databases and tools

Franklin by Genoox
AI-powered variant curation and clinical analysis
DECIPHER
Genomic variants and phenotypes in rare disease patients