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LOC108281144 SGK1-CHCHD2P4 intergenic CAGE-defined mid-level expression enhancer [ Homo sapiens (human) ]

Gene ID: 108281144, updated on 10-Oct-2023

Summary

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Gene symbol
LOC108281144
Gene description
SGK1-CHCHD2P4 intergenic CAGE-defined mid-level 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 element is located in the intergenic region between the SGK1 (serum/glucocorticoid regulated kinase 1) and CHCHD2P4 (coiled-coil-helix-coiled-coil-helix domain containing 2 pseudogene 4) loci. It was defined as a mid-level 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 HeLa cells. [provided by RefSeq, Jul 2016]
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Genomic context

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Location:
6q23
Annotation release Status Assembly Chr Location
RS_2023_10 current GRCh38.p14 (GCF_000001405.40) 6 NC_000006.12 (134358160..134358675)
RS_2023_10 current T2T-CHM13v2.0 (GCF_009914755.1) 6 NC_060930.1 (135546281..135546796)
105.20220307 previous assembly GRCh37.p13 (GCF_000001405.25) 6 NC_000006.11 (134679298..134679813)

Chromosome 6 - NC_000006.12Genomic Context describing neighboring genes Neighboring gene serum/glucocorticoid regulated kinase 1 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr6:134617783-134618284 Neighboring gene H3K27ac hESC enhancer GRCh37_chr6:134632359-134632918 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 25089 Neighboring gene keratin 8 pseudogene 42 Neighboring gene uncharacterized LOC105378009 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 17559 Neighboring gene coiled-coil-helix-coiled-coil-helix domain containing 2 pseudogene 4 Neighboring gene BRD4-independent group 4 enhancer GRCh37_chr6:134757040-134758239 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 25090 Neighboring gene long intergenic non-protein coding RNA 1010 Neighboring gene cancer/testis associated transcript 69

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

  • SGK1-CHCHD2P4 interval mid 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_051100.1 

    Range
    101..616
    Download
    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_000006.12 Reference GRCh38.p14 Primary Assembly

    Range
    134358160..134358675
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

Alternate T2T-CHM13v2.0

Genomic

  1. NC_060930.1 Alternate T2T-CHM13v2.0

    Range
    135546281..135546796
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)
Nucleotide Protein
Heading Accession and Version

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