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LOC107992391 heart enhancer 14 [ Homo sapiens (human) ]

Gene ID: 107992391, updated on 10-Oct-2023

Summary

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Gene symbol
LOC107992391
Gene description
heart enhancer 14
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 approximately 53 kb downstream of the LINC00399 (long intergenic non-protein coding RNA 399) 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 a zebrafish in vivo reporter assay. [provided by RefSeq, Jun 2016]
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Genomic context

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Location:
chromosome: 13
Annotation release Status Assembly Chr Location
RS_2023_10 current GRCh38.p14 (GCF_000001405.40) 13 NC_000013.11 (109454653..109454928)
RS_2023_10 current T2T-CHM13v2.0 (GCF_009914755.1) 13 NC_060937.1 (108682749..108683024)
105.20220307 previous assembly GRCh37.p13 (GCF_000001405.25) 13 NC_000013.10 (110107000..110107275)

Chromosome 13 - NC_000013.11Genomic Context describing neighboring genes Neighboring gene long intergenic non-protein coding RNA 370 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr13:109985471-109985971 Neighboring gene BRD4-independent group 4 enhancer GRCh37_chr13:110001130-110002329 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr13:110021749-110022746 Neighboring gene uncharacterized LOC105370359 Neighboring gene long intergenic non-protein coding RNA 399 Neighboring gene OCT4-NANOG hESC enhancer GRCh37_chr13:110076314-110076837 Neighboring gene ReSE screen-validated silencer GRCh37_chr13:110141574-110141689 Neighboring gene CDK7 strongly-dependent group 2 enhancer GRCh37_chr13:110165798-110166997 Neighboring gene uncharacterized LOC107984602 Neighboring gene uncharacterized LOC124903210 Neighboring gene uncharacterized LOC101927627

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)

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_050843.1 

    Range
    101..376
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    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_000013.11 Reference GRCh38.p14 Primary Assembly

    Range
    109454653..109454928
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

Alternate T2T-CHM13v2.0

Genomic

  1. NC_060937.1 Alternate T2T-CHM13v2.0

    Range
    108682749..108683024
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)
Nucleotide Protein
Heading Accession and Version

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