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LOC108004525 heart enhancer 24 [ Homo sapiens (human) ]

Gene ID: 108004525, updated on 14-Mar-2024

Summary

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Gene symbol
LOC108004525
Gene description
heart enhancer 24
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 RBPMS (RNA binding protein with multiple splicing) gene. It 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. It was validated as a functional heart enhancer in both mouse and zebrafish in vivo reporter assays. [provided by RefSeq, Jun 2016]
Orthologs
mouse all
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Genomic context

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See LOC108004525 in Genome Data Viewer
Location:
8p12
Annotation release Status Assembly Chr Location
RS_2023_10 current GRCh38.p14 (GCF_000001405.40) 8 NC_000008.11 (30412190..30412630)
RS_2023_10 current T2T-CHM13v2.0 (GCF_009914755.1) 8 NC_060932.1 (30691973..30692413)
105.20220307 previous assembly GRCh37.p13 (GCF_000001405.25) 8 NC_000008.10 (30269706..30270146)

Chromosome 8 - NC_000008.11Genomic Context describing neighboring genes Neighboring gene tubulin beta pseudogene 1 Neighboring gene H3K27ac hESC enhancer GRCh37_chr8:30241844-30242514 Neighboring gene NANOG-H3K27ac-H3K4me1 hESC enhancer GRCh37_chr8:30242515-30243186 Neighboring gene RBPMS antisense RNA 1 Neighboring gene OCT4-NANOG-H3K27ac hESC enhancer GRCh37_chr8:30251401-30252099 Neighboring gene NANOG-H3K27ac-H3K4me1 hESC enhancer GRCh37_chr8:30252799-30253496 Neighboring gene OCT4-NANOG-H3K27ac-H3K4me1 hESC enhancer GRCh37_chr8:30254895-30255593 Neighboring gene Sharpr-MPRA regulatory region 541 Neighboring gene RNA binding protein, mRNA processing factor Neighboring gene uncharacterized LOC112268025 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr8:30284105-30284606 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr8:30284607-30285106 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr8:30295211-30295746 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr8:30303831-30304359 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr8:30304360-30304887 Neighboring gene Sharpr-MPRA regulatory region 3907 Neighboring gene NANOG hESC enhancer GRCh37_chr8:30310384-30310885 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr8:30318783-30319578 Neighboring gene ReSE screen-validated silencer GRCh37_chr8:30333285-30333476 Neighboring gene uncharacterized LOC124901929

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

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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Homology

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_050850.1 

    Range
    101..541
    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_000008.11 Reference GRCh38.p14 Primary Assembly

    Range
    30412190..30412630
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

Alternate T2T-CHM13v2.0

Genomic

  1. NC_060932.1 Alternate T2T-CHM13v2.0

    Range
    30691973..30692413
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)
Nucleotide Protein
Heading Accession and Version

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