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LOC130008225 ATAC-STARR-seq lymphoblastoid active region 6608 [ Homo sapiens (human) ]

Gene ID: 130008225, updated on 27-Aug-2024

Summary

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Gene symbol
LOC130008225
Gene description
ATAC-STARR-seq lymphoblastoid active region 6608
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: 12
Annotation release Status Assembly Chr Location
RS_2024_08 current GRCh38.p14 (GCF_000001405.40) 12 NC_000012.12 (65170661..65170740)
RS_2024_08 current T2T-CHM13v2.0 (GCF_009914755.1) 12 NC_060936.1 (65149583..65149662)

Chromosome 12 - NC_000012.12Genomic Context describing neighboring genes Neighboring gene ATAC-STARR-seq lymphoblastoid active region 6605 Neighboring gene apolipoprotein O pseudogene 3 Neighboring gene uncharacterized LOC124902953 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 6606 Neighboring gene H3K27ac hESC enhancer GRCh37_chr12:65563126-65563698 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 4630 Neighboring gene ReSE screen-validated silencer GRCh37_chr12:65564244-65564447 Neighboring gene Sharpr-MPRA regulatory region 14888 Neighboring gene LEM domain containing 3 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 4631 Neighboring gene MPRA-validated peak1765 silencer Neighboring gene H3K4me1 hESC enhancer GRCh37_chr12:65655701-65656202 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr12:65656203-65656702 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 4632 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 4633 Neighboring gene methionine sulfoxide reductase B3 Neighboring gene uncharacterized LOC124902954 Neighboring gene keratin 18 pseudogene 60

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

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_186794.1 

    Range
    101..180
    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
    65170661..65170740
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

Alternate T2T-CHM13v2.0

Genomic

  1. NC_060936.1 Alternate T2T-CHM13v2.0

    Range
    65149583..65149662
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)
Nucleotide Protein
Heading Accession and Version

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