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LOC112136105 NANOG-H3K27ac-H3K4me1 hESC enhancer GRCh37_chr12:109085249-109085930 [ Homo sapiens (human) ]

Gene ID: 112136105, updated on 10-Oct-2023

Summary

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Gene symbol
LOC112136105
Gene description
NANOG-H3K27ac-H3K4me1 hESC enhancer GRCh37_chr12:109085249-109085930
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 sequence was predicted to be a transcriptional regulatory region based on chromatin state analysis from the ENCODE (ENCyclopedia Of DNA Elements) project. It includes an enhancer that was validated by the ChIP-STARR-seq massively parallel reporter assay (MPRA) in naive human embryonic stem cells, where it associates with the NANOG transcription factor and is marked by the H3K27ac and H3K4me1 histone modifications. A subregion was also validated as an enhancer by Sharpr-MPRA (Systematic high-resolution activation and repression profiling with reporter tiling using massively parallel reporter assays) in K562 erythroleukemia cells (group: K562 Activating DNase unmatched - State 1:Tss, active promoter, TSS/CpG island region). This locus also includes an accessible chromatin subregion that was validated as an enhancer based on its ability to activate an origin of replication minimal core promoter by the ATAC-STARR-seq (assay for transposase-accessible chromatin with self-transcribing active regulatory region sequencing) MPRA in GM12878 lymphoblastoid cells. [provided by RefSeq, May 2023]
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Genomic context

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See LOC112136105 in Genome Data Viewer
Location:
12q
Annotation release Status Assembly Chr Location
RS_2023_10 current GRCh38.p14 (GCF_000001405.40) 12 NC_000012.12 (108691403..108692154)
RS_2023_10 current T2T-CHM13v2.0 (GCF_009914755.1) 12 NC_060936.1 (108665993..108666744)
105.20220307 previous assembly GRCh37.p13 (GCF_000001405.25) 12 NC_000012.11 (109085409..109085703)

Chromosome 12 - NC_000012.12Genomic Context describing neighboring genes Neighboring gene uncharacterized LOC105369968 Neighboring gene microRNA 4496 Neighboring gene coronin 1C Neighboring gene ATAC-STARR-seq lymphoblastoid active region 6974 Neighboring gene RNA, U7 small nuclear 169 pseudogene Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr12:109085931-109086612 Neighboring gene NANOG-H3K27ac hESC enhancer GRCh37_chr12:109087326-109087838 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 6976 Neighboring gene Sharpr-MPRA regulatory region 4572 Neighboring gene H3K27ac hESC enhancer GRCh37_chr12:109095295-109095827 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 6977 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr12:109108143-109108833 Neighboring gene NANOG-H3K27ac-H3K4me1 hESC enhancer GRCh37_chr12:109108834-109109524 Neighboring gene NANOG-H3K27ac hESC enhancer GRCh37_chr12:109109525-109110214 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 4831 Neighboring gene H3K27ac hESC enhancer GRCh37_chr12:109125165-109125968 Neighboring gene uncharacterized LOC105369969 Neighboring gene H3K27ac hESC enhancer GRCh37_chr12:109128377-109128878 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 4833 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr12:109164153-109164653 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 6978 Neighboring gene small nucleolar RNA SNORA40 Neighboring gene slingshot protein phosphatase 1

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. Genome-scale high-resolution mapping of activating and repressive nucleotides in regulatory regions. Ernst J, et al. Nat Biotechnol, 2016 Nov. PMID 27701403, Free PMC Article
  2. ATAC-STARR-seq reveals transcription factor-bound activators and silencers across the chromatin accessible human genome. Hansen TJ, et al. Genome Res, 2022 Jul 20. PMID 35858748, Free PMC Article
  3. Functional Dissection of the Enhancer Repertoire in Human Embryonic Stem Cells. Barakat TS, et al. Cell Stem Cell, 2018 Aug 2. PMID 30033119, 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

  • ATAC-STARR-seq lymphoblastoid active region 6975
  • Sharpr-MPRA regulatory region 839

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_056544.3 

    Range
    101..852
    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
    108691403..108692154
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    GenBank, FASTA, Sequence Viewer (Graphics)

Alternate T2T-CHM13v2.0

Genomic

  1. NC_060936.1 Alternate T2T-CHM13v2.0

    Range
    108665993..108666744
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)
Nucleotide Protein
Heading Accession and Version

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