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LOC130061525 ATAC-STARR-seq lymphoblastoid active region 12648 [ Homo sapiens (human) ]

Gene ID: 130061525, updated on 12-Sep-2024

Summary

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Gene symbol
LOC130061525
Gene description
ATAC-STARR-seq lymphoblastoid active region 12648
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 LOC130061525 in Genome Data Viewer
Location:
chromosome: 17
Annotation release Status Assembly Chr Location
RS_2024_08 current GRCh38.p14 (GCF_000001405.40) 17 NC_000017.11 (68398808..68399167)
RS_2024_08 current T2T-CHM13v2.0 (GCF_009914755.1) 17 NC_060941.1 (69275331..69275690)
RS_2024_09 previous assembly GRCh37.p13 (GCF_000001405.25) 17 NC_000017.10 (66394949..66395308)

Chromosome 17 - NC_000017.11Genomic Context describing neighboring genes Neighboring gene solute carrier family 16 member 6 Neighboring gene ReSE screen-validated silencer GRCh37_chr17:66287460-66287634 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 12644 Neighboring gene arylsulfatase G Neighboring gene Sharpr-MPRA regulatory region 10227 Neighboring gene H3K27ac hESC enhancer GRCh37_chr17:66340482-66340982 Neighboring gene H3K27ac hESC enhancer GRCh37_chr17:66340983-66341483 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 12645 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 12646 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 12647 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr17:66374359-66374878 Neighboring gene MPRA-validated peak2959 silencer Neighboring gene tRNA-undetermined (NNN) 5-1 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr17:66409262-66409920 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr17:66409921-66410577 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr17:66432181-66432681 Neighboring gene protein kinase cAMP-dependent type I regulatory subunit alpha Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 8900 Neighboring gene microRNA 635 Neighboring gene WD repeat domain, phosphoinositide interacting 1 Neighboring gene ReSE screen-validated silencer GRCh37_chr17:66453793-66454079 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 8902 Neighboring gene ReSE screen-validated silencer GRCh37_chr17:66494688-66494871 Neighboring gene H3K27ac hESC enhancer GRCh37_chr17:66508045-66508618 Neighboring gene Sharpr-MPRA regulatory region 15560 Neighboring gene FAM20A golgi associated secretory pathway pseudokinase

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_194967.1 

    Range
    101..460
    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_000017.11 Reference GRCh38.p14 Primary Assembly

    Range
    68398808..68399167
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    GenBank, FASTA, Sequence Viewer (Graphics)

Alternate T2T-CHM13v2.0

Genomic

  1. NC_060941.1 Alternate T2T-CHM13v2.0

    Range
    69275331..69275690
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)
Nucleotide Protein
Heading Accession and Version

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