FAM114A1

Chr 4

family with sequence similarity 114 member A1

Also known as: Noxp20

NCBI Gene: 92689ENSG00000197712UniProt: Q8IWE2

The protein encoded by this gene belongs to the FAM114 family and may play a role in neuronal cell development. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Apr 2017]

ResearchGenerating clinical summary…
0
Active trials
5
Pubs (1 yr)
—
P/LP submissions
—
P/LP missense
1.49
LOEUF
—
Mechanism

Population Genetics & Constraint

gnomAD v4 — loss-of-function & missense intolerance

gnomAD
Tolerant — LoF & missense variants common in population
LoF Constraint?
1.49LOEUF
pLI 0.000
Z-score -0.43
OE 1.09 (0.81–1.49)
Tolerant

Highly tolerant — LoF variants common in population

Missense Constraint?
0.49Z-score
OE missense 0.92 (0.83–1.02)
282 obs / 306.2 exp
Tolerant

Mild missense constraint

Observed / Expected Ratios?
LoF OE?1.09 (0.81–1.49)
0≤0.351.4
Missense OE?0.92 (0.83–1.02)
0≤0.61.4
Synonymous OE?1.03
0≤1.21.6
LoF obs/exp: 29 / 26.6Missense obs/exp: 282 / 306.2Syn Z: -0.26

ClinVar Variant Classifications

0 submitted variants in ClinVar

ClinVar

Protein Context — Lollipop Plot

FAM114A1 · 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