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LOC108254670 DHRS7C intron CAGE-defined high expression enhancer [ Homo sapiens (human) ]

Gene ID: 108254670, updated on 10-Oct-2023

Summary

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Gene symbol
LOC108254670
Gene description
DHRS7C intron CAGE-defined high expression enhancer
Gene type
biological region
Feature type(s)
misc_feature: CAGE_cluster
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 region is located in an intron of the DHRS7C (dehydrogenase/reductase 7C) gene. It was defined as a high expression actively transcribed enhancer based on the presence of balanced bidirectional capped transcripts by cap analysis of gene expression (CAGE). It was validated as a functional enhancer by reporter assays in both HeLa and HepG2 cells. [provided by RefSeq, Jun 2016]
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Genomic context

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Location:
17p13.1
Annotation release Status Assembly Chr Location
RS_2023_10 current GRCh38.p14 (GCF_000001405.40) 17 NC_000017.11 (9784381..9784972)
RS_2023_10 current T2T-CHM13v2.0 (GCF_009914755.1) 17 NC_060941.1 (9692103..9692694)
105.20220307 previous assembly GRCh37.p13 (GCF_000001405.25) 17 NC_000017.10 (9687698..9688289)

Chromosome 17 - NC_000017.11Genomic Context describing neighboring genes Neighboring gene cilia and flagella associated protein 52 Neighboring gene uncharacterized LOC124903924 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 8198 Neighboring gene H3K27ac hESC enhancer GRCh37_chr17:9549075-9549722 Neighboring gene uncharacterized LOC107985011 Neighboring gene BRD4-independent group 4 enhancer GRCh37_chr17:9550412-9551611 Neighboring gene H3K27ac hESC enhancer GRCh37_chr17:9565481-9565980 Neighboring gene ubiquitin specific peptidase 43 Neighboring gene P300/CBP strongly-dependent group 1 enhancer GRCh37_chr17:9579536-9580735 Neighboring gene CDK7 strongly-dependent group 2 enhancer GRCh37_chr17:9604114-9605313 Neighboring gene ReSE screen-validated silencer GRCh37_chr17:9612165-9612329 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr17:9630942-9631442 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr17:9631443-9631943 Neighboring gene OCT4-NANOG hESC enhancer GRCh37_chr17:9680825-9681382 Neighboring gene Neanderthal introgressed variant-containing enhancer experimental_47652 Neighboring gene dehydrogenase/reductase 7C Neighboring gene uncharacterized LOC124903925 Neighboring gene GSG1 like 2 Neighboring gene glucagon like peptide 2 receptor Neighboring gene nucleophosmin 1 pseudogene 45

Genomic regions, transcripts, and products

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Go to nucleotide: Graphics FASTA GenBank

Bibliography

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Related articles in PubMed

  1. An atlas of active enhancers across human cell types and tissues. Andersson R, et al. Nature, 2014 Mar 27. PMID 24670763, Free PMC Article

GeneRIFs: Gene References Into Functions

Phenotypes

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Review eQTL and phenotype association data in this region using PheGenI

Variation

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See variants in ClinVar

See Variation Viewer (GRCh37.p13)

General gene information

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Other Names

  • DHRS7C intron high CAGE FANTOM5 enhancer

NCBI Reference Sequences (RefSeq)

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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.

Genomic

  1. NG_051016.1 

    Range
    101..692
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    GenBank, FASTA, Sequence Viewer (Graphics)

RefSeqs of Annotated Genomes: GCF_000001405.40-RS_2023_10

The following sections contain reference sequences that belong to a specific genome build. Explain

Reference GRCh38.p14 Primary Assembly

Genomic

  1. NC_000017.11 Reference GRCh38.p14 Primary Assembly

    Range
    9784381..9784972
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

Alternate T2T-CHM13v2.0

Genomic

  1. NC_060941.1 Alternate T2T-CHM13v2.0

    Range
    9692103..9692694
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)
Nucleotide Protein
Heading Accession and Version

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