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LOC107988049 heart enhancer 10 [ Homo sapiens (human) ]

Gene ID: 107988049, updated on 10-Oct-2023

Summary

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Gene symbol
LOC107988049
Gene description
heart enhancer 10
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 region is located in an intron of the ARID1A (AT-rich interaction domain 1A) gene. It represents a conserved element that was predicted to be a heart enhancer based on a classifier that assesses the presence and/or absence of various features implicated in heart development, including transcription factor binding sites. A subregion was validated as a functional heart enhancer in both mouse and zebrafish in vivo reporter assays. Another subregion was also validated as an enhancer by the ChIP-STARR-seq massively parallel reporter assay in primed human embryonic stem cells, where it associates with the OCT4 and NANOG transcription factors and is marked by the H3K27ac and H3K4me1 histone modifications. [provided by RefSeq, Jan 2023]
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Genomic context

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Location:
1p35.3
Annotation release Status Assembly Chr Location
RS_2023_10 current GRCh38.p14 (GCF_000001405.40) 1 NC_000001.11 (26723100..26724809)
RS_2023_10 current T2T-CHM13v2.0 (GCF_009914755.1) 1 NC_060925.1 (26561058..26562767)
105.20220307 previous assembly GRCh37.p13 (GCF_000001405.25) 1 NC_000001.10 (27049591..27050905)

Chromosome 1 - NC_000001.11Genomic Context describing neighboring genes Neighboring gene uncharacterized LOC105376888 Neighboring gene translation initiation factor IF-2-like Neighboring gene uncharacterized LOC101928728 Neighboring gene H3K27ac hESC enhancer GRCh37_chr1:27019176-27019690 Neighboring gene hESC enhancers GRCh37_chr1:27021339-27022275 and GRCh37_chr1:27022276-27023211 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 489 Neighboring gene Sharpr-MPRA regulatory region 12508 Neighboring gene AT-rich interaction domain 1A Neighboring gene H3K4me1 hESC enhancer GRCh37_chr1:27033907-27034406 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr1:27048400-27048980 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr1:27048981-27049560 Neighboring gene OCT4-NANOG-H3K27ac hESC enhancer GRCh37_chr1:27051301-27051880 Neighboring gene NANOG-H3K27ac-H3K4me1 hESC enhancer GRCh37_chr1:27051881-27052460 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr1:27057943-27058472 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 490 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 517 Neighboring gene CDK7 strongly-dependent group 2 enhancer GRCh37_chr1:27098665-27099864 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 518 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 519 Neighboring gene NANOG-H3K27ac-H3K4me1 hESC enhancer GRCh37_chr1:27114367-27115193 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 521 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 522 Neighboring gene phosphatidylinositol glycan anchor biosynthesis class V Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr1:27130608-27131323 Neighboring gene RNA, 7SL, cytoplasmic 165, pseudogene

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-wide discovery of human heart enhancers. Narlikar L, et al. Genome Res, 2010 Mar. PMID 20075146, Free PMC Article
  2. VISTA Enhancer Browser--a database of tissue-specific human enhancers. Visel A, et al. Nucleic Acids Res, 2007 Jan. PMID 17130149, 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

  • OCT4-NANOG-H3K27ac-H3K4me1 hESC enhancer GRCh37_chr1:27050721-27051300
  • VISTA enhancer hs569

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_050810.2 

    Range
    101..1810
    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
    26723100..26724809
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

Alternate T2T-CHM13v2.0

Genomic

  1. NC_060925.1 Alternate T2T-CHM13v2.0

    Range
    26561058..26562767
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)
Nucleotide Protein
Heading Accession and Version

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