CRE3
Chr 8CRE3 CAGE-defined tissue-specific enhancer
This genomic element is located in the intergenic region between the C8orf74 (chromosome 8 open reading frame 74) and SOX7 (SRY-box 7) genes. It was defined as a tissue-specific transcribed enhancer based on the presence of balanced bidirectional capped transcripts by cap analysis of gene expression (CAGE) in endothelial cells, salivary gland, pineal gland and aorta, and on genomic conservation analysis. It was validated as a functional tissue-specific enhancer by transgenic reporter assays in zebrafish. A subregion was also shown to be an enhancer by the ChIP-STARR-seq massively parallel reporter assay in primed human embryonic stem cells, where it is marked by the H3K4me1 histone modification. [provided by RefSeq, Dec 2022]
Some data sources returned errors (2)
ensembl: Error: Ensembl fetch failed: 400 for https://rest.ensembl.org/lookup/symbol/homo_sapiens/CRE3?content-type=application/json&expand=1
gnomad: Error: Gene not found
Population Genetics & Constraint
Constraint data not available from gnomAD.
ClinVar Variant Classifications
58 submitted variants in ClinVar
Classification Summary
Curated Variants Distribution
Classified variants from ClinVar · 5 ACMG categories· variant type breakdown unavailable
| Classification | LoF | Missense + Inframe | Non-coding | Synonymous | Total |
|---|---|---|---|---|---|
Pathogenic | — | — | — | — | 54 |
Likely Pathogenic | — | — | — | — | 1 |
VUS | — | — | — | — | 3 |
Likely Benign | — | — | — | — | 0 |
Benign | — | — | — | — | 0 |
| Total | — | 58 | |||
Counts from ClinVar esearch · Updated hourly
View in ClinVar →CRE3 · protein map & ClinVar variants
Showing all ClinVar variants across the protein. Search a specific variant to highlight its position.
External Resources
Links to major genomics databases and tools
Clinical Trials
Active and recruiting trials from ClinicalTrials.gov
No active trials found for this gene.
Search ClinicalTrials.gov →External Resources
Links to major genomics databases and tools