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LOC112590825 hESC enhancers GRCh37_chr1:9653469-9654066 and GRCh37_chr1:9654067-9654663 [ Homo sapiens (human) ]

Gene ID: 112590825, updated on 10-Oct-2023

Summary

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Gene symbol
LOC112590825
Gene description
hESC enhancers GRCh37_chr1:9653469-9654066 and GRCh37_chr1:9654067-9654663
Gene type
biological region
Feature type(s)
regulatory: enhancer, silencer
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. Two subregions were validated as active enhancers by ChIP-STARR-seq in human embryonic stem cells, where both subregions are marked by the H3K4me1 histone modification and one is additionally marked by H3K27ac. An overlapping subregion was also validated as a functional enhancer by Sharpr-MPRA (Systematic high-resolution activation and repression profiling with reporter tiling using massively parallel reporter assays) in HepG2 liver carcinoma cells (group: HepG2 Activating non-DNase unmatched - State 14:Gen5', transcription transition, highly expressed genes towards 5' end). The same subregion also displayed weak repressive activity by Sharpr-MPRA in K562 erythroleukemia cells (group: K562 Repressive non-DNase unmatched - State 14:Gen5'). [provided by RefSeq, Oct 2022]
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Genomic context

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Location:
1p
Annotation release Status Assembly Chr Location
RS_2023_10 current GRCh38.p14 (GCF_000001405.40) 1 NC_000001.11 (9593411..9594605)
RS_2023_10 current T2T-CHM13v2.0 (GCF_009914755.1) 1 NC_060925.1 (9129710..9130904)
105.20220307 previous assembly GRCh37.p13 (GCF_000001405.25) 1 NC_000001.10 (9653969..9654263)

Chromosome 1 - NC_000001.11Genomic Context describing neighboring genes Neighboring gene RNA, 5S ribosomal pseudogene 40 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr1:9533371-9533922 Neighboring gene MPRA-validated peak54 silencer Neighboring gene Sharpr-MPRA regulatory region 9854 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 222 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 129 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr1:9601405-9601904 Neighboring gene solute carrier family 25 member 33 Neighboring gene MPRA-validated peak56 silencer Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 224 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 223 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 225 Neighboring gene ribosomal protein L9 pseudogene 11 Neighboring gene CDK7 strongly-dependent group 2 enhancer GRCh37_chr1:9657808-9659007 Neighboring gene transmembrane protein 201 Neighboring gene ReSE screen-validated silencer GRCh37_chr1:9671778-9672013 Neighboring gene uncharacterized LOC124903837 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr1:9675483-9676027 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 130 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 131 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 226 Neighboring gene nonconserved acetylation island sequence 67 enhancer Neighboring gene uncharacterized LOC105376712 Neighboring gene phosphatidylinositol-4,5-bisphosphate 3-kinase catalytic subunit delta

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. 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

  • H3K27ac-H3K4me1 hESC enhancer GRCh37_chr1:9653469-9654066
  • H3K4me1 hESC enhancer GRCh37_chr1:9654067-9654663
  • Sharpr-MPRA regulatory region 8288

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_060615.2 

    Range
    101..1295
    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_000001.11 Reference GRCh38.p14 Primary Assembly

    Range
    9593411..9594605
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

Alternate T2T-CHM13v2.0

Genomic

  1. NC_060925.1 Alternate T2T-CHM13v2.0

    Range
    9129710..9130904
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)
Nucleotide Protein
Heading Accession and Version

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