NAP1L5

Chr 4

nucleosome assembly protein 1 like 5

Also known as: DRLM

NCBI Gene: 266812ENSG00000177432UniProt: Q96NT1OMIM: 612203

This gene encodes a protein that shares sequence similarity to nucleosome assembly factors, but may be localized to the cytoplasm rather than the nucleus. Expression of this gene is downregulated in hepatocellular carcinomas. This gene is located within a differentially methylated region (DMR) and is imprinted and paternally expressed. There is a related pseudogene on chromosome 4. [provided by RefSeq, Nov 2015]

OMIMResearchGenerating clinical summary…

Clinical highlights

Interpreting a novel variant
This gene is strongly intolerant of loss-of-function variation in the population, so LoF variants warrant close attention. No curated mechanism annotation is available — see the mechanism card for the computational prediction and its caveats.Based on population constraint only.
0
Active trials
4
Pubs (1 yr)
—
P/LP submissions
—
P/LP missense
0.77
LOEUF
—
Mechanism

Population Genetics & Constraint

gnomAD v4 — loss-of-function & missense intolerance

gnomAD
Moderate LoF intolerance
LoF Constraint?
0.77LOEUF
pLI 0.693
Z-score 1.82
OE 0.00 (0.00–0.77)
Moderately constrained

Typical tolerance to LoF variation

Missense Constraint?
0.39Z-score
OE missense 0.90 (0.76–1.06)
100 obs / 111.7 exp
Tolerant

Mild missense constraint

Observed / Expected Ratios?
LoF OE?0.00 (0.00–0.77)
0≤0.351.4
Missense OE?0.90 (0.76–1.06)
0≤0.61.4
Synonymous OE?1.13
0≤1.21.6
LoF obs/exp: 0 / 3.9Missense obs/exp: 100 / 111.7Syn Z: -0.74

ClinVar Variant Classifications

0 submitted variants in ClinVar

ClinVar

Protein Context — Lollipop Plot

NAP1L5 · 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