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LOC130068744 ATAC-STARR-seq lymphoblastoid active region 29987 [ Homo sapiens (human) ]

Gene ID: 130068744, updated on 14-Oct-2023

Summary

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Gene symbol
LOC130068744
Gene description
ATAC-STARR-seq lymphoblastoid active region 29987
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 LOC130068744 in Genome Data Viewer
Location:
chromosome: X
Annotation release Status Assembly Chr Location
RS_2023_10 current GRCh38.p14 (GCF_000001405.40) X NC_000023.11 (135973537..135974066)
RS_2023_10 current T2T-CHM13v2.0 (GCF_009914755.1) X NC_060947.1 (134282270..134282799)

Chromosome X - NC_000023.11Genomic Context describing neighboring genes Neighboring gene CDK7 strongly-dependent group 2 enhancer GRCh37_chrX:134987035-134988234 Neighboring gene sarcoma antigen 1 Neighboring gene ReSE screen-validated silencer GRCh37_chrX:135014477-135014713 Neighboring gene cancer/testis antigen family 45 member A11, pseudogene Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 21024 Neighboring gene membrane magnesium transporter 1 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 21025 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 29988 Neighboring gene solute carrier family 9 member A6 Neighboring gene glyceraldehyde 3 phosphate dehydrogenase pseudogene 67 Neighboring gene CDK7 strongly-dependent group 2 enhancer GRCh37_chrX:135179522-135180721 Neighboring gene E2F transcription factor 6 pseudogene 4

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 across the chromatin accessible human genome. Hansen TJ, et al. Genome Res, 2022 Jul 20. 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

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_203158.1 

    Range
    101..630
    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_000023.11 Reference GRCh38.p14 Primary Assembly

    Range
    135973537..135974066
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

Alternate T2T-CHM13v2.0

Genomic

  1. NC_060947.1 Alternate T2T-CHM13v2.0

    Range
    134282270..134282799
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)
Nucleotide Protein
Heading Accession and Version

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