DCLRE1A

Chr 10

DNA cross-link repair 1A

Also known as: PSO2, SNM1, SNM1A

NCBI Gene: 9937ENSG00000198924UniProt: Q6PJP8OMIM: 609682

This gene encodes a conserved protein that is involved in the repair of DNA interstrand cross-links. DNA cross-links suppress transcription, replication, and DNA segregation. The encoded protein is a regulator of the mitotic cell cycle checkpoint. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Nov 2012]

OMIMResearchGenerating clinical summary…
0
Active trials
3
Pubs (1 yr)
—
P/LP submissions
—
P/LP missense
0.75
LOEUF
DN
Mechanism· predicted

Population Genetics & Constraint

gnomAD v4 — loss-of-function & missense intolerance

gnomAD
Tolerant — LoF & missense variants common in population
LoF Constraint?
0.75LOEUF
pLI 0.000
Z-score 2.84
OE 0.52 (0.37–0.75)
Tolerant

Typical tolerance to LoF variation

Missense Constraint?
0.58Z-score
OE missense 0.93 (0.86–1.00)
499 obs / 536.8 exp
Tolerant

Mild missense constraint

Observed / Expected Ratios?
LoF OE?0.52 (0.37–0.75)
0≤0.351.4
Missense OE?0.93 (0.86–1.00)
0≤0.61.4
Synonymous OE?1.01
0≤1.21.6
LoF obs/exp: 21 / 40.5Missense obs/exp: 499 / 536.8Syn Z: -0.10

ClinVar Variant Classifications

0 submitted variants in ClinVar

ClinVar

Protein Context — Lollipop Plot

DCLRE1A · 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