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LOC130008030 ATAC-STARR-seq lymphoblastoid active region 6455 [ Homo sapiens (human) ]

Gene ID: 130008030, updated on 12-Sep-2024

Summary

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Gene symbol
LOC130008030
Gene description
ATAC-STARR-seq lymphoblastoid active region 6455
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 LOC130008030 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 (55716511..55716750)
RS_2024_08 current T2T-CHM13v2.0 (GCF_009914755.1) 12 NC_060936.1 (55683147..55683386)
RS_2024_09 previous assembly GRCh37.p13 (GCF_000001405.25) 12 NC_000012.11 (56110295..56110534)

Chromosome 12 - NC_000012.12Genomic Context describing neighboring genes Neighboring gene ATAC-STARR-seq lymphoblastoid active region 6451 Neighboring gene VISTA enhancer hs2573 Neighboring gene proteasome subunit beta 3 pseudogene 1 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 6453 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr12:56075179-56075854 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr12:56078881-56079380 Neighboring gene thiol methyltransferase 1B Neighboring gene integrin subunit alpha 7 Neighboring gene CDK7 strongly-dependent group 2 enhancer GRCh37_chr12:56087579-56088778 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 4534 Neighboring gene BLOC1S1-RDH5 readthrough Neighboring gene ATAC-STARR-seq lymphoblastoid active region 6454 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 6456 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 6457 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 6458 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr12:56114612-56115240 Neighboring gene biogenesis of lysosomal organelles complex 1 subunit 1 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 4535 Neighboring gene retinol dehydrogenase 5 Neighboring gene H3K27ac hESC enhancer GRCh37_chr12:56122619-56123225 Neighboring gene CD63 molecule Neighboring gene CD63 antisense RNA 1

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_188571.1 

    Range
    101..340
    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_000012.12 Reference GRCh38.p14 Primary Assembly

    Range
    55716511..55716750
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

Alternate T2T-CHM13v2.0

Genomic

  1. NC_060936.1 Alternate T2T-CHM13v2.0

    Range
    55683147..55683386
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)
Nucleotide Protein
Heading Accession and Version

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