CRE3 CRE3 CAGE-defined tissue-specific enhancer [Homo sapiens (human)] - Gene

Summary

Gene symbol: CRE3
Gene description: CRE3 CAGE-defined tissue-specific enhancer
Gene type: biological region
Feature type(s): regulatory: enhancer
RefSeq status: REVIEWED
Organism: Homo sapiens
Lineage: Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
Summary: 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]
NEW: Try the new Gene table
Try the new Transcript table

Genomic context

Location:: 8p23.1

Annotation release	Status	Assembly	Chr	Location
RS_2023_10	current	GRCh38.p14 (GCF_000001405.40)	8	NC_000008.11 (10715576..10716781)
RS_2023_10	current	T2T-CHM13v2.0 (GCF_009914755.1)	8	NC_060932.1 (9022307..9023512, complement)
105.20220307	previous assembly	GRCh37.p13 (GCF_000001405.25)	8	NC_000008.10 (10573086..10574291)

Chromosome 8 - NC_000008.11 Genomic Context describing neighboring genes

Genomic regions, transcripts, and products

Go to the top of the page Help

Go to reference sequence details

Genomic Sequence:

Go to nucleotide: Graphics FASTA GenBank

Bibliography

Go to the top of the page Help

GeneRIFs: Gene References Into Functions

What's a GeneRIF?

Submit: New GeneRIF Correction

Phenotypes

Go to the top of the page Help

Review eQTL and phenotype association data in this region using PheGenI

Variation

Go to the top of the page Help

See variants in ClinVar

See Variation Viewer (GRCh37.p13)

General gene information

Go to the top of the page Help

Other Names

FANTOM5 human-zebrafish conserved CRE3 enhancer
H3K4me1 hESC enhancer GRCh37_chr8:10573212-10573866
cis-regulatory element 3

NCBI Reference Sequences (RefSeq)

Go to the top of the page Help

NEW Try the new Transcript table

RefSeqs maintained independently of Annotated Genomes

These reference sequences exist independently of genome builds. Explain

These reference sequences are curated independently of the genome annotation cycle, so their versions may not match the RefSeq versions in the current genome build. Identify version mismatches by comparing the version of the RefSeq in this section to the one reported in Genomic regions, transcripts, and products above.