C7ORF57

Chr 7

chromosome 7 open reading frame 57

Also known as: FCAP33

NCBI Gene: 136288ENSG00000164746UniProt: Q8NEG2
0
Active trials
15
Pathogenic / LP
23
ClinVar variants
0
Pubs (1 yr)
0.5
Missense Z
1.58
LOEUF
Clinical Summary— C7ORF57
⚡
Population Constraint (gnomAD)
Low constraint (pLI 0.00) — loss-of-function variants are relatively tolerated in the population.
📋
ClinVar Variants
15 Pathogenic / Likely Pathogenic· 7 VUS of 23 total submissions

Population Genetics & Constraint

gnomAD v4 — loss-of-function & missense intolerance

gnomAD
Tolerant — LoF & missense variants common in population
LoF Constraint
1.58LOEUF
pLI 0.000
Z-score -0.21
OE 1.06 (0.72–1.58)
Tolerant

Highly tolerant — LoF variants common in population

Missense Constraint
0.55Z-score
OE missense 0.88 (0.76–1.01)
139 obs / 158.4 exp
Tolerant

Mild missense constraint

Observed / Expected Ratios
LoF OE1.06 (0.72–1.58)
0≤0.351.4
Missense OE0.88 (0.76–1.01)
0≤0.61.4
Synonymous OE0.93
0≤1.21.6
LoF obs/exp: 17 / 16.1Missense obs/exp: 139 / 158.4Syn Z: 0.42

ClinVar Variant Classifications

23 submitted variants in ClinVar

ClinVar

Classification Summary

Pathogenic15
VUS7
Likely Benign1
15
Pathogenic
7
VUS
1
Likely Benign

Curated Variants Distribution

Classified variants from ClinVar · 5 ACMG categories

ClassificationLoFMissense + InframeNon-codingSynonymousTotal
Pathogenic
0
0
15
0
15
Likely Pathogenic
0
0
0
0
0
VUS
0
3
4
0
7
Likely Benign
0
1
0
0
1
Benign
0
0
0
0
0
Total0419023

LoF = frameshift, stop gained/lost, canonical splice · Counts from ClinVar esearch · Updated hourly

View in ClinVar →

C7ORF57 · 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 →
Clinical Literature
Landmark / reviewRecent case evidence
Full-Text Mentions
NLP-detected gene mentions in article bodies · via PubTator3
PubTator3
Genome-Wide Association Study of Body Conformation Traits by Whole Genome Sequencing in Dazu Black Goats
Gu B et al.·Animals (Basel)
2022
Whole Exome-Trio Analysis Reveals Rare Variants Associated with Congenital Pouch Colon
Gupta S et al.·Children (Basel)
2023
Downregulation of chemokine (C-C motif) ligand 5 induced by a novel 8-hydroxyquinoline derivative (91b1) suppresses tumor invasiveness in esophageal carcinoma
Tang JC et al.·Int J Mol Med
2024
Identification of Differently Expressed mRNAs in Atherosclerosis Reveals CDK6 Is Regulated by circHIPK3/miR-637 Axis and Promotes Cell Growth in Human Vascular Smooth Muscle Cells
Kang L et al.·Front Genet
2021
Meta-Analysis illustrates possible role of lipopolysaccharide (LPS)-induced tissue injury in nasopharyngeal carcinoma (NPC) pathogenesis
Allen DZ et al.·PLoS One
2021
Top 5 full-text resultsSearch PubTator3 ↗
Key Publications
Landmark & review papers · by relevance
PubMed
Top 1 results · since 2015Search PubMed ↗
Recent Gene-Specific Literature
Gene in title · MEDLINE · newest first
Europe PMC

No open access results found

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