FILIP1L

Chr 3

filamin A interacting protein 1 like

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

NCBI Gene: 11259 ENSG00000168386 UniProt: Q4L180 OMIM: 612993

The protein regulates antiangiogenic activity in endothelial cells and inhibits cell proliferation, migration, and tumor growth. Mutations in this gene cause autosomal recessive neurodevelopmental disorders with intellectual disability and developmental delay. This gene shows moderate constraint against loss-of-function variants (LOEUF 0.725), suggesting some tolerance to protein-truncating mutations.

OMIM ResearchSummary from RefSeq, UniProt

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]

OMIM ResearchGenerating clinical summary…

Active trials

Pubs (1 yr)

—

P/LP submissions

—

P/LP missense

0.72

LOEUF

Multiple*

Mechanism· predicted

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

Background carrier burden — how many people carry a rare variant somewhere in FILIP1L?

gnomAD v4 · ~731k individuals · PASS only

Rare means allele frequency under

Rare missense

1 in 35

1,443 rare PASS variants

Rare truncating (LoF)

1 in 620

187 rare PASS variants

Rare synonymous (reference)

1 in 81

513 rare PASS variants

Truncating variants are far rarer here than missense — that gap, in human units, is what constraint means for FILIP1L. A background rate for each class, not the frequency of any particular variant; thin-coverage exons undercount.

By genetic ancestry · 9 gnomAD groups · rare = under 0.1% in that group

Group	People	Missense	Truncating
European (non-Finnish)	~556k	1 in 44	1 in 600
South Asian	~43k	1 in 34	1 in 510
Remaining (unassigned)	~30k	1 in 26	1 in 400
European (Finnish)	~27k	1 in 150	1 in 2,400
Admixed American	~22k	1 in 30	1 in 470
African / African American	~21k	1 in 35	1 in 910
East Asian	~20k	1 in 32	1 in 1,400
Ashkenazi Jewish	~13k	1 in 130	none seen
Middle Eastern	~2,884	1 in 36	1 in 220

Each group is summed over the variants that are rare in that group. Grey ≈ figures rest on fewer than five expected carriers — too few to distinguish groups. Differences mostly reflect how many people were sampled and how much variation each ancestry carries, not disease risk.

Exome coverage (gnomAD): 4 of 5 coding exons well covered in gnomAD exomes; exon 6 poorly covered. Genomes: all 5.? see exons ↓