CRCT1

Chr 1

cysteine rich C-terminal 1

Also known as: C1orf42, NICE-1, NICE1

NCBI Gene: 54544ENSG00000169509UniProt: Q9UGL9OMIM: 617426

OMIMResearchGenerating clinical summary…
0
Active trials
3
Pubs (1 yr)
—
P/LP submissions
—
P/LP missense
1.95
LOEUF
DN
Mechanism· predicted

Population Genetics & Constraint

gnomAD v4 — loss-of-function & missense intolerance

gnomAD
Tolerant — LoF & missense variants common in population
LoF Constraint?
1.95LOEUF
pLI 0.002
Z-score -1.45
OE 2.40 (0.70–1.95)
Tolerant

Highly tolerant — LoF variants common in population

Missense Constraint?
0.39Z-score
OE missense 0.85 (0.67–1.09)
47 obs / 55.1 exp
Tolerant

Mild missense constraint

Observed / Expected Ratios?
LoF OE?2.40 (0.70–1.95)
0≤0.351.4
Missense OE?0.85 (0.67–1.09)
0≤0.61.4
Synonymous OE?1.22
0≤1.21.6
LoF obs/exp: 3 / 1.2Missense obs/exp: 47 / 55.1Syn Z: -0.90

ClinVar Variant Classifications

0 submitted variants in ClinVar

ClinVar

Protein Context — Lollipop Plot

CRCT1 · 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