DSCC1

Chr 8

DNA replication and sister chromatid cohesion 1

Also known as: DCC1

NCBI Gene: 79075ENSG00000136982UniProt: Q9BVC3OMIM: 613203

CHTF18 (MIM 613201), CHTF8 (MIM 613202), and DSCC1 are components of an alternative replication factor C (RFC) (see MIM 600404) complex that loads PCNA (MIM 176740) onto DNA during S phase of the cell cycle (Merkle et al., 2003 [PubMed 12766176]; Bermudez et al., 2003 [PubMed 12930902]).[supplied by OMIM, Dec 2009]

OMIMResearchGenerating clinical summary…
0
Active trials
6
Pubs (1 yr)
—
P/LP submissions
—
P/LP missense
0.67
LOEUF
—
Mechanism

Population Genetics & Constraint

gnomAD v4 — loss-of-function & missense intolerance

gnomAD
Tolerant — LoF & missense variants common in population
LoF Constraint?
0.67LOEUF
pLI 0.008
Z-score 2.65
OE 0.36 (0.20–0.67)
Tolerant

Typical tolerance to LoF variation

Missense Constraint?
1.17Z-score
OE missense 0.77 (0.67–0.88)
153 obs / 199.7 exp
Tolerant

Mild missense constraint

Observed / Expected Ratios?
LoF OE?0.36 (0.20–0.67)
0≤0.351.4
Missense OE?0.77 (0.67–0.88)
0≤0.61.4
Synonymous OE?0.71
0≤1.21.6
LoF obs/exp: 7 / 19.7Missense obs/exp: 153 / 199.7Syn Z: 1.94

ClinVar Variant Classifications

0 submitted variants in ClinVar

ClinVar

Protein Context — Lollipop Plot

DSCC1 · 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