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LOC130064376 ATAC-STARR-seq lymphoblastoid active region 14594 [ Homo sapiens (human) ]

Gene ID: 130064376, updated on 12-Sep-2024

Summary

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Gene symbol
LOC130064376
Gene description
ATAC-STARR-seq lymphoblastoid active region 14594
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 LOC130064376 in Genome Data Viewer
Location:
chromosome: 19
Annotation release Status Assembly Chr Location
RS_2024_08 current GRCh38.p14 (GCF_000001405.40) 19 NC_000019.10 (38831693..38831842)
RS_2024_08 current T2T-CHM13v2.0 (GCF_009914755.1) 19 NC_060943.1 (41635745..41635894)
RS_2024_09 previous assembly GRCh37.p13 (GCF_000001405.25) 19 NC_000019.9 (39322333..39322482)

Chromosome 19 - NC_000019.10Genomic Context describing neighboring genes Neighboring gene NANOG-H3K27ac hESC enhancer GRCh37_chr19:39287723-39288637 Neighboring gene RNA, U6 small nuclear 140, pseudogene Neighboring gene galectin 4 Neighboring gene MPRA-validated peak3474 silencer Neighboring gene uncharacterized LOC124904712 Neighboring gene OCT4-NANOG hESC enhancer GRCh37_chr19:39314813-39315370 Neighboring gene enoyl-CoA hydratase 1 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 14595 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr19:39333551-39334051 Neighboring gene heterogeneous nuclear ribonucleoprotein L Neighboring gene H3K27ac hESC enhancer GRCh37_chr19:39338887-39339825 Neighboring gene H3K27ac hESC enhancer GRCh37_chr19:39339826-39340763 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 14597 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 14598 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 10586 Neighboring gene H3K27ac hESC enhancer GRCh37_chr19:39343185-39343829 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 14599 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 10587 Neighboring gene ReSE screen-validated silencer GRCh37_chr19:39350790-39350958 Neighboring gene Sharpr-MPRA regulatory region 3140 Neighboring gene NANOG-H3K27ac-H3K4me1 hESC enhancer GRCh37_chr19:39356343-39356918 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 14600 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr19:39360061-39360631 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr19:39360661-39361267 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr19:39361268-39361873 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 10589 Neighboring gene Ras and Rab interactor like

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_198793.1 

    Range
    101..250
    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_000019.10 Reference GRCh38.p14 Primary Assembly

    Range
    38831693..38831842
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    GenBank, FASTA, Sequence Viewer (Graphics)

Reference GRCh38.p14 PATCHES

Genomic

  1. NW_014040929.1 Reference GRCh38.p14 PATCHES

    Range
    241365..241514
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    GenBank, FASTA, Sequence Viewer (Graphics)

Alternate T2T-CHM13v2.0

Genomic

  1. NC_060943.1 Alternate T2T-CHM13v2.0

    Range
    41635745..41635894
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    GenBank, FASTA, Sequence Viewer (Graphics)
Nucleotide Protein
Heading Accession and Version

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