CTHRC1

Chr 8

collagen triple helix repeat containing 1

NCBI Gene: 115908ENSG00000164932UniProt: Q96CG8OMIM: 610635

The protein encoded by this gene negatively regulates collagen matrix deposition and is involved in vascular remodeling following arterial injury. Mutations cause Barrett esophagus and esophageal adenocarcinoma. The gene shows low constraint against loss-of-function variants, and inheritance pattern information is not available from the current data.

OMIMResearchSummary from RefSeq, OMIM, UniProt
LOEUF 1.401 OMIM phenotype
Clinical Summary— CTHRC1
⚡
Population Constraint (gnomAD)
Low constraint (pLI 0.00) — loss-of-function variants are relatively tolerated in the population.
💊
Clinical Trials
1 active or recruiting trial — potential therapeutic options may be available
Explore recent and relevant literature in Research Assistant →

Population Genetics & Constraint

gnomAD v4 — loss-of-function & missense intolerance

gnomAD
Tolerant — LoF & missense variants common in population
LoF Constraint
1.40LOEUF
pLI 0.000
Z-score 0.66
OE 0.78 (0.46–1.40)
Tolerant

Highly tolerant — LoF variants common in population

Missense Constraint
0.63Z-score
OE missense 0.84 (0.72–0.99)
107 obs / 127.1 exp
Tolerant

Mild missense constraint

Observed / Expected Ratios
LoF OE0.78 (0.46–1.40)
0≤0.351.4
Missense OE0.84 (0.72–0.99)
0≤0.61.4
Synonymous OE0.97
0≤1.21.6
LoF obs/exp: 8 / 10.3Missense obs/exp: 107 / 127.1Syn Z: 0.16

ClinVar Variant Classifications

0 submitted variants in ClinVar

ClinVar

Protein Context — Lollipop Plot

CTHRC1 · protein map & ClinVar variants

Showing all ClinVar variants across the protein. Search a specific variant to highlight its position.

3D Protein StructureAlphaFold
Clinical Literature
Open Research Assistant →
Full-Text Mentions
NLP-detected gene mentions in article bodies · via PubTator3
PubTator3
Top 5 full-text resultsSearch PubTator3 ↗
Recent Gene-Specific Literature
Gene in title · MEDLINE · newest first
Europe PMC
Top 5 resultsSearch Europe PMC ↗

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