APOBEC4

Chr 1

apolipoprotein B mRNA editing enzyme catalytic polypeptide like 4

Also known as: C1orf169

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…
GOFmechanismLOEUF 1.47
Clinical SummaryAPOBEC4
Population Constraint (gnomAD)
Low constraint (pLI 0.00) — loss-of-function variants are relatively tolerated in the population.

Population Genetics & Constraint

gnomAD v4 — loss-of-function & missense intolerance

Tolerant — LoF & missense variants common in population
LoF Constraint?
1.47LOEUF
pLI 0.000
Z-score 0.58
OE 0.79 (0.451.47)
Tolerant

Highly tolerant — LoF variants common in population

Missense Constraint?
0.56Z-score
OE missense 0.89 (0.781.01)
173 obs / 194.9 exp
Tolerant

Mild missense constraint

Observed / Expected Ratios?
LoF OE?0.79 (0.451.47)
00.351.4
Missense OE?0.89 (0.781.01)
00.61.4
Synonymous OE?0.78
01.21.6
LoF obs/exp: 7 / 8.9Missense obs/exp: 173 / 194.9Syn Z: 1.47

This gene — mechanism propensity

DN
0.6065th %ile
GOF
0.6736th %ile
LOF
0.2774th %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

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

No active trials found for this gene.

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