FRMD1

Chr 6

FERM domain containing 1

Also known as: bA164L23.1

Predicted to be involved in positive regulation of hippo signaling. Predicted to be located in cytoskeleton. Predicted to be active in cytoplasmic side of apical plasma membrane. [provided by Alliance of Genome Resources, Jul 2025]

ResearchGenerating clinical summary…
GOFmechanismLOEUF 1.30
Clinical SummaryFRMD1
Population Constraint (gnomAD)
Low constraint (pLI 0.00) — loss-of-function variants are relatively tolerated in the population.
Some data sources returned errors (1)

omim: Error: OMIM fetch failed: 429

Population Genetics & Constraint

gnomAD v4 — loss-of-function & missense intolerance

Tolerant — LoF & missense variants common in population
LoF Constraint?
1.30LOEUF
pLI 0.000
Z-score 0.42
OE 0.91 (0.651.30)
Tolerant

Highly tolerant — LoF variants common in population

Missense Constraint?
-0.09Z-score
OE missense 1.01 (0.931.11)
348 obs / 343.4 exp
Tolerant

Tolerant to missense variation

Observed / Expected Ratios?
LoF OE?0.91 (0.651.30)
00.351.4
Missense OE?1.01 (0.931.11)
00.61.4
Synonymous OE?1.11
01.21.6
LoF obs/exp: 22 / 24.2Missense obs/exp: 348 / 343.4Syn Z: -1.07

This gene — mechanism propensity

DN
0.5575th %ile
GOF
0.7126th %ile
LOF
0.4429th %ile

The highest-scoring mechanism for this gene is gain-of-function.

GOFprediction above median

Note: In-silico variant effect predictors (SIFT, PolyPhen, REVEL, CADD) may underestimate pathogenicity of missense variants in genes with GOF or DN mechanisms. Consider functional evidence and clinical context.

Predictions from Badonyi M, Marsh JA. PLoS ONE. 2024;19(8):e0307312.

ClinVar Variant Classifications

0 submitted variants in ClinVar

Protein Context — Lollipop Plot

FRMD1 · 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

No active trials found for this gene.

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