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LOC130055746 ATAC-STARR-seq lymphoblastoid active region 8461 [ Homo sapiens (human) ]

Gene ID: 130055746, updated on 12-Sep-2024

Summary

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Gene symbol
LOC130055746
Gene description
ATAC-STARR-seq lymphoblastoid active region 8461
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 sequence represents an accessible chromatin region that was validated as an enhancer based on its ability to activate an origin of replication minimal core promoter by the ATAC-STARR-seq (assay for transposase-accessible chromatin with self-transcribing active regulatory region sequencing) massively parallel reporter assay (MPRA) in GM12878 lymphoblastoid cells. [provided by RefSeq, May 2023]
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Genomic context

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See LOC130055746 in Genome Data Viewer
Location:
chromosome: 14
Annotation release Status Assembly Chr Location
RS_2024_08 current GRCh38.p14 (GCF_000001405.40) 14 NC_000014.9 (59484483..59484762)
RS_2024_08 current T2T-CHM13v2.0 (GCF_009914755.1) 14 NC_060938.1 (53691415..53691694)
RS_2024_09 previous assembly GRCh37.p13 (GCF_000001405.25) 14 NC_000014.8 (59951201..59951480)

Chromosome 14 - NC_000014.9Genomic Context describing neighboring genes Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 5803 Neighboring gene NANOG-H3K4me1 hESC enhancer GRCh37_chr14:59655908-59656667 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 8458 Neighboring gene Neanderthal introgressed variant-containing enhancer experimental_34577 Neighboring gene Sharpr-MPRA regulatory region 14842 Neighboring gene dishevelled associated activator of morphogenesis 1 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 5805 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 8459 Neighboring gene NANOG-H3K4me1 hESC enhancer GRCh37_chr14:59797736-59798544 Neighboring gene NANOG hESC enhancer GRCh37_chr14:59862330-59862839 Neighboring gene Neanderthal introgressed variant-containing enhancer experimental_34615 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 5806 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 8460 Neighboring gene G protein-coupled receptor 135 Neighboring gene uncharacterized LOC124903326 Neighboring gene trans-L-3-hydroxyproline dehydratase Neighboring gene JNK1/MAPK8 associated membrane protein Neighboring gene coiled-coil domain containing 175

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. ATAC-STARR-seq reveals transcription factor-bound activators and silencers within chromatin-accessible regions of the human genome. Hansen TJ, et al. Genome Res, 2022 Aug 25. PMID 35858748, 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_190167.1 

    Range
    101..380
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

RefSeqs of Annotated Genomes: GCF_000001405.40-RS_2024_08

The following sections contain reference sequences that belong to a specific genome build. Explain

Reference GRCh38.p14 Primary Assembly

Genomic

  1. NC_000014.9 Reference GRCh38.p14 Primary Assembly

    Range
    59484483..59484762
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    GenBank, FASTA, Sequence Viewer (Graphics)

Alternate T2T-CHM13v2.0

Genomic

  1. NC_060938.1 Alternate T2T-CHM13v2.0

    Range
    53691415..53691694
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)
Nucleotide Protein
Heading Accession and Version

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