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LOC108281176 nontranscribed chromatin-defined enhancer upstream of C12orf71 [ Homo sapiens (human) ]

Gene ID: 108281176, updated on 10-Oct-2023

Summary

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Gene symbol
LOC108281176
Gene description
nontranscribed chromatin-defined enhancer upstream of C12orf71
Gene type
biological region
Feature type(s)
regulatory: enhancer, epigenetically_modified_region
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 upstream regulatory region of the C12orf71 (chromosome 12 open reading frame 71) gene. It was defined as a nontranscribed region with regulatory potential based on the co-occurrence of H3K27ac and H3K4me1 ChIP-seq data centered on P300 binding sites in HeLa cells, with an absence of 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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See LOC108281176 in Genome Data Viewer
Location:
12p11
Annotation release Status Assembly Chr Location
RS_2023_10 current GRCh38.p14 (GCF_000001405.40) 12 NC_000012.12 (27086847..27087563)
RS_2023_10 current T2T-CHM13v2.0 (GCF_009914755.1) 12 NC_060936.1 (26958909..26959625)
105.20220307 previous assembly GRCh37.p13 (GCF_000001405.25) 12 NC_000012.11 (27239780..27240496)

Chromosome 12 - NC_000012.12Genomic Context describing neighboring genes Neighboring gene ATAC-STARR-seq lymphoblastoid active region 6131 Neighboring gene mediator complex subunit 21 Neighboring gene MPRA-validated peak1625 silencer Neighboring gene chromosome 12 open reading frame 71 Neighboring gene liprin-beta-1-like Neighboring gene Neanderthal introgressed variant-containing enhancer experimental_27027 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 6132 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 6133 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 6134 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 6135 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr12:27366569-27367070 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 6137 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 6138 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 6136 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 6139 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 6140 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 6141 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 6142 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 4309 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 6143 Neighboring gene serine/threonine kinase 38 like Neighboring gene Sharpr-MPRA regulatory region 14756 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 6144 Neighboring gene MPRA-validated peak1626 silencer Neighboring gene uncharacterized LOC124902905

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
  2. An integrated encyclopedia of DNA elements in the human genome. ENCODE Project Consortium. Nature, 2012 Sep 6. PMID 22955616, 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

  • no CAGE FANTOM5 enhancer upstream of C12orf71

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_051135.1 

    Range
    101..817
    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_000012.12 Reference GRCh38.p14 Primary Assembly

    Range
    27086847..27087563
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

Alternate T2T-CHM13v2.0

Genomic

  1. NC_060936.1 Alternate T2T-CHM13v2.0

    Range
    26958909..26959625
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)
Nucleotide Protein
Heading Accession and Version

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