FEM1B

Chr 15

fem-1 homolog B

Also known as: F1A-ALPHA, F1AA, FEM1-beta, NEDBES

This gene encodes an ankyrin repeat protein that belongs to the death receptor-associated family of proteins and plays a role in mediating apoptosis. The encoded protein is also thought to function in the replication stress-induced checkpoint signaling pathway via interaction with checkpoint kinase 1. [provided by RefSeq, Aug 2013]

ResearchGenerating clinical summary…
GOFmechanismLOEUF 0.52
Clinical SummaryFEM1B
Population Constraint (gnomAD)
Constrained for loss-of-function variants (OE-LoF 0.23) despite low pLI — interpret in context.
📋
ClinVar Variants
1 unique Pathogenic / Likely Pathogenic· 45 VUS of 51 total submissions
Some data sources returned errors (1)

omim: Error: OMIM fetch failed: 429

Population Genetics & Constraint

gnomAD v4 — loss-of-function & missense intolerance

Missense constrained — critical functional residues
LoF Constraint?
0.52LOEUF
pLI 0.349
Z-score 2.99
OE 0.23 (0.110.52)
Moderately constrained

More LoF-intolerant than ~75% of genes

Missense Constraint?
3.62Z-score
OE missense 0.46 (0.400.52)
160 obs / 350.7 exp
Constrained

Highly missense-constrained (top ~0.1%)

Observed / Expected Ratios?
LoF OE?0.23 (0.110.52)
00.351.4
Missense OE?0.46 (0.400.52)
00.61.4
Synonymous OE?1.05
01.21.6
LoF obs/exp: 4 / 17.5Missense obs/exp: 160 / 350.7Syn Z: -0.41

ClinVar Variant Classifications

51 submitted variants in ClinVar

Classification Summary

Pathogenic1
VUS45
Likely Benign1
Benign1
1
Pathogenic
45
VUS
1
Likely Benign
1
Benign

Curated Variants Distribution

Classified variants from ClinVar · 5 ACMG categories

ClassificationLoFMissense + InframeNon-codingSynonymousTotal
Pathogenic
0
1
0
0
1
Likely Pathogenic
0
0
0
0
0
VUS
0
45
0
0
45
Likely Benign
0
1
0
0
1
Benign
0
0
0
1
1
Total0470148

LoF = frameshift, stop gained/lost, canonical splice · Counts from ClinVar esearch · Updated hourly

View in ClinVar →

12 pathogenic / likely-pathogenic (of 16) ClinVar copy-number / structural variants overlap FEM1B — these span large chromosomal regions, not the gene specifically, and are excluded from the counts above. Explore in CNV tools →

Protein Context — Lollipop Plot

FEM1B · 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.

Search ClinicalTrials.gov →