FILIP1L

Chr 3

filamin A interacting protein 1 like

Also known as: DOC-1, DOC1, GIP130, GIP90

NCBI Gene: 11259ENSG00000168386UniProt: Q4L180

Predicted to be involved in protein localization to actin cytoskeleton. Predicted to act upstream of or within several processes, including hindgut development; proteasomal protein catabolic process; and protein secretion. Predicted to be located in cytoplasm; membrane; and nucleus. Predicted to be active in actin cytoskeleton and centrosome. [provided by Alliance of Genome Resources, Jul 2025]

ResearchGenerating clinical summary…
0
Active trials
11
Pubs (1 yr)
—
P/LP submissions
—
P/LP missense
0.72
LOEUF
Multiple*
Mechanism· predicted
Some data sources returned errors (1)

omim: Error: OMIM fetch failed: 429

Population Genetics & Constraint

gnomAD v4 — loss-of-function & missense intolerance

gnomAD
Tolerant — LoF & missense variants common in population
LoF Constraint?
0.72LOEUF
pLI 0.000
Z-score 3.00
OE 0.51 (0.36–0.72)
Tolerant

Typical tolerance to LoF variation

Missense Constraint?
-0.19Z-score
OE missense 1.02 (0.95–1.09)
591 obs / 578.2 exp
Tolerant

Tolerant to missense variation

Observed / Expected Ratios?
LoF OE?0.51 (0.36–0.72)
0≤0.351.4
Missense OE?1.02 (0.95–1.09)
0≤0.61.4
Synonymous OE?0.89
0≤1.21.6
LoF obs/exp: 22 / 43.3Missense obs/exp: 591 / 578.2Syn Z: 1.27

ClinVar Variant Classifications

0 submitted variants in ClinVar

ClinVar

Protein Context — Lollipop Plot

FILIP1L · 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