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LOC130062366 ATAC-STARR-seq lymphoblastoid active region 13217 [ Homo sapiens (human) ]

Gene ID: 130062366, updated on 14-Oct-2023

Summary

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Gene symbol
LOC130062366
Gene description
ATAC-STARR-seq lymphoblastoid active region 13217
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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Location:
chromosome: 18
Annotation release Status Assembly Chr Location
RS_2023_10 current GRCh38.p14 (GCF_000001405.40) 18 NC_000018.10 (34860652..34860781)
RS_2023_10 current T2T-CHM13v2.0 (GCF_009914755.1) 18 NC_060942.1 (35052522..35052651)

Chromosome 18 - NC_000018.10Genomic Context describing neighboring genes Neighboring gene dystrobrevin alpha Neighboring gene ribosomal protein L10a pseudogene 13 Neighboring gene uncharacterized LOC124904281 Neighboring gene OCT4-NANOG-H3K27ac hESC enhancer GRCh37_chr18:32239357-32239860 Neighboring gene OCT4-NANOG-H3K27ac hESC enhancer GRCh37_chr18:32239861-32240364 Neighboring gene OCT4-NANOG hESC enhancer GRCh37_chr18:32427354-32428159 Neighboring gene Sharpr-MPRA regulatory region 11937 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 13216 Neighboring gene uncharacterized LOC105372061 Neighboring gene Sharpr-MPRA regulatory region 7107 Neighboring gene Sharpr-MPRA regulatory region 2105 Neighboring gene uncharacterized LOC124904282

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_195258.1 

    Range
    101..230
    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_000018.10 Reference GRCh38.p14 Primary Assembly

    Range
    34860652..34860781
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

Alternate T2T-CHM13v2.0

Genomic

  1. NC_060942.1 Alternate T2T-CHM13v2.0

    Range
    35052522..35052651
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)
Nucleotide Protein
Heading Accession and Version

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