CHD1L

Chr 1

chromodomain helicase DNA binding protein 1 like

Also known as: ALC1, CHDL

NCBI Gene: 9557ENSG00000131778UniProt: Q86WJ1

This gene encodes a DNA helicase protein involved in DNA repair. The protein converts ATP to add poly(ADP-ribose) as it regulates chromatin relaxation following DNA damage. Overexpression of this gene has been linked to several types of cancers. [provided by RefSeq, Feb 2017]

GeneReviewsResearchGenerating clinical summary…

Clinical highlights

Gene-disease validity (ClinGen)
congenital anomaly of kidney and urinary tract · ADLimitednot for standalone diagnostic reporting
0
Active trials
16
Pubs (1 yr)
—
P/LP submissions
—
P/LP missense
1.30
LOEUF
—
Mechanism
📖
GeneReview available — CHD1L
Authoritative clinical overview · Recommended first read
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Some data sources returned errors (1)

omim: Error: OMIM fetch failed: 429

Population Genetics & Constraint

gnomAD v4 — loss-of-function & missense intolerance

gnomAD
Tolerant — LoF & missense variants common in population
LoF Constraint?
1.30LOEUF
pLI 0.000
Z-score -0.24
OE 1.04 (0.83–1.30)
Tolerant

Highly tolerant — LoF variants common in population

Missense Constraint?
-0.58Z-score
OE missense 1.08 (1.00–1.16)
490 obs / 455.2 exp
Tolerant

Tolerant to missense variation

Observed / Expected Ratios?
LoF OE?1.04 (0.83–1.30)
0≤0.351.4
Missense OE?1.08 (1.00–1.16)
0≤0.61.4
Synonymous OE?1.00
0≤1.21.6
LoF obs/exp: 54 / 52.1Missense obs/exp: 490 / 455.2Syn Z: -0.05

ClinVar Variant Classifications

0 submitted variants in ClinVar

ClinVar

Protein Context — Lollipop Plot

CHD1L · 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