APOBEC4

Chr 1

apolipoprotein B mRNA editing enzyme catalytic polypeptide like 4

Also known as: C1orf169

NCBI Gene: 403314ENSG00000173627UniProt: Q8WW27OMIM: 609908

This gene encodes a member of the AID/APOBEC family of polynucleotide (deoxy)cytidine deaminases, which convert cytidine to uridine. Other AID/APOBEC family members are involved in mRNA editing, somatic hypermutation and recombination of immunoglobulin genes, and innate immunity to retroviral infection. [provided by RefSeq, Jul 2008]

OMIMResearchGenerating clinical summary…
0
Active trials
0
Pubs (1 yr)
—
P/LP submissions
—
P/LP missense
1.47
LOEUF
GOF
Mechanism· predicted

Population Genetics & Constraint

gnomAD v4 — loss-of-function & missense intolerance

gnomAD
Tolerant — LoF & missense variants common in population
LoF Constraint?
1.47LOEUF
pLI 0.000
Z-score 0.58
OE 0.79 (0.45–1.47)
Tolerant

Highly tolerant — LoF variants common in population

Missense Constraint?
0.56Z-score
OE missense 0.89 (0.78–1.01)
173 obs / 194.9 exp
Tolerant

Mild missense constraint

Observed / Expected Ratios?
LoF OE?0.79 (0.45–1.47)
0≤0.351.4
Missense OE?0.89 (0.78–1.01)
0≤0.61.4
Synonymous OE?0.78
0≤1.21.6
LoF obs/exp: 7 / 8.9Missense obs/exp: 173 / 194.9Syn Z: 1.47

ClinVar Variant Classifications

0 submitted variants in ClinVar

ClinVar

Protein Context — Lollipop Plot

APOBEC4 · 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