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LOC130008015 ATAC-STARR-seq lymphoblastoid active region 6443 [ Homo sapiens (human) ]

Gene ID: 130008015, updated on 12-Sep-2024

Summary

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Gene symbol
LOC130008015
Gene description
ATAC-STARR-seq lymphoblastoid active region 6443
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 LOC130008015 in Genome Data Viewer
Location:
chromosome: 12
Annotation release Status Assembly Chr Location
RS_2024_08 current GRCh38.p14 (GCF_000001405.40) 12 NC_000012.12 (54486424..54486473)
RS_2024_08 current T2T-CHM13v2.0 (GCF_009914755.1) 12 NC_060936.1 (54452998..54453047)
RS_2024_09 previous assembly GRCh37.p13 (GCF_000001405.25) 12 NC_000012.11 (54880208..54880257)

Chromosome 12 - NC_000012.12Genomic Context describing neighboring genes Neighboring gene GPR84, ZNF385A, ITGA5 and GTSF1 antisense RNA 1 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr12:54805235-54806017 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr12:54806018-54806799 Neighboring gene integrin subunit alpha 5 Neighboring gene MPRA-validated peak1738 silencer Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr12:54867463-54867989 Neighboring gene gametocyte specific factor 1 Neighboring gene MPRA-validated peak1739 silencer Neighboring gene ATAC-STARR-seq lymphoblastoid active region 6444 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 6445 Neighboring gene NCK associated protein 1 like Neighboring gene NANOG hESC enhancer GRCh37_chr12:54940243-54940787 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 4531 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr12:54943935-54944563 Neighboring gene OCT4-NANOG-H3K27ac hESC enhancer GRCh37_chr12:54957859-54958550 Neighboring gene OCT4-NANOG-H3K27ac hESC enhancer GRCh37_chr12:54958551-54959240 Neighboring gene phosphodiesterase 1B Neighboring gene Sharpr-MPRA regulatory region 444

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_186705.1 

    Range
    101..150
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    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_000012.12 Reference GRCh38.p14 Primary Assembly

    Range
    54486424..54486473
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

Alternate T2T-CHM13v2.0

Genomic

  1. NC_060936.1 Alternate T2T-CHM13v2.0

    Range
    54452998..54453047
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)
Nucleotide Protein
Heading Accession and Version

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