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LOC107988047 heart enhancer 8 [ Homo sapiens (human) ]

Gene ID: 107988047, updated on 10-Oct-2023

Summary

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Gene symbol
LOC107988047
Gene description
heart enhancer 8
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 SMG6 (SMG6, nonsense mediated mRNA decay factor) 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:
17p13.3
Annotation release Status Assembly Chr Location
RS_2023_10 current GRCh38.p14 (GCF_000001405.40) 17 NC_000017.11 (2214952..2215800)
RS_2023_10 current T2T-CHM13v2.0 (GCF_009914755.1) 17 NC_060941.1 (2102214..2103064)
105.20220307 previous assembly GRCh37.p13 (GCF_000001405.25) 17 NC_000017.10 (2118246..2119094)

Chromosome 17 - NC_000017.11Genomic Context describing neighboring genes Neighboring gene SMG6 nonsense mediated mRNA decay factor Neighboring gene ATAC-STARR-seq lymphoblastoid active region 11477 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 7986 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 11478 Neighboring gene MCUR1 pseudogene 1 Neighboring gene Sharpr-MPRA regulatory region 9675 Neighboring gene H3K27ac hESC enhancer GRCh37_chr17:2076187-2076923 Neighboring gene VISTA enhancer hs1445 Neighboring gene VISTA enhancer hs924 Neighboring gene NANOG-H3K27ac hESC enhancer GRCh37_chr17:2097975-2098476 Neighboring gene RNA, 7SL, cytoplasmic 624, pseudogene Neighboring gene BRD4-independent group 4 enhancer GRCh37_chr17:2116692-2117891 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 7987 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 11479 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr17:2122139-2123075 Neighboring gene uncharacterized LOC101927839 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 11480 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 11481 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 11482 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 11483 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 11484 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 11485 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 11486 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 11487 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 11488 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 11489 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr17:2205337-2206151 Neighboring gene H3K27ac hESC enhancer GRCh37_chr17:2206481-2207207 Neighboring gene heterogeneous nuclear ribonucleoprotein A1 pseudogene 16 Neighboring gene serine racemase

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_050808.1 

    Range
    101..949
    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_000017.11 Reference GRCh38.p14 Primary Assembly

    Range
    2214952..2215800
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

Alternate T2T-CHM13v2.0

Genomic

  1. NC_060941.1 Alternate T2T-CHM13v2.0

    Range
    2102214..2103064
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)
Nucleotide Protein
Heading Accession and Version

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