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LOC130008833 ATAC-STARR-seq lymphoblastoid active region 7068 [ Homo sapiens (human) ]

Gene ID: 130008833, updated on 12-Sep-2024

Summary

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Gene symbol
LOC130008833
Gene description
ATAC-STARR-seq lymphoblastoid active region 7068
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 LOC130008833 in Genome Data Viewer
Location:
chromosome: 12
Annotation release Status Assembly Chr Location
RS_2024_08 current GRCh38.p14 (GCF_000001405.40) 12 NC_000012.12 (113220693..113220842)
RS_2024_08 current T2T-CHM13v2.0 (GCF_009914755.1) 12 NC_060936.1 (113197316..113197465)
RS_2024_09 previous assembly GRCh37.p13 (GCF_000001405.25) 12 NC_000012.11 (113658498..113658647)

Chromosome 12 - NC_000012.12Genomic Context describing neighboring genes Neighboring gene cilia and flagella associated protein 73 Neighboring gene microRNA 7106 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 7062 Neighboring gene DEAD-box helicase 54 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 7063 Neighboring gene H3K27ac hESC enhancer GRCh37_chr12:113623217-113623866 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr12:113623867-113624517 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr12:113624518-113625167 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr12:113629297-113629950 Neighboring gene Sharpr-MPRA regulatory region 6569 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr12:113639865-113640756 Neighboring gene RBPJ interacting and tubulin associated 1 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 7064 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 7065 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 7066 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 7067 Neighboring gene IQ motif containing D Neighboring gene Sharpr-MPRA regulatory region 2606 Neighboring gene Neanderthal introgressed variant-containing enhancer experimental_24601 Neighboring gene Neanderthal introgressed variant-containing enhancer experimental_24602 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 7069 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 7070 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr12:113669293-113669843 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 7071 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 7072 Neighboring gene two pore segment channel 1 Neighboring gene OCT4-NANOG-H3K27ac-H3K4me1 hESC enhancer GRCh37_chr12:113683649-113684312 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr12:113684313-113684976 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr12:113689411-113689911 Neighboring gene Neanderthal introgressed variant-containing enhancer experimental_24607 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 7073 Neighboring gene Neanderthal introgressed variant-containing enhancer experimental_24609 Neighboring gene ReSE screen-validated silencer GRCh37_chr12:113705834-113706026 Neighboring gene Neanderthal introgressed variant-containing enhancer experimental_24611 Neighboring gene Neanderthal introgressed variant-containing enhancer experimental_24613 Neighboring gene Neanderthal introgressed variant-containing enhancer experimental_24616 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr12:113736197-113736894 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr12:113736895-113737590 Neighboring gene Sharpr-MPRA regulatory region 468 Neighboring gene NANOG hESC enhancer GRCh37_chr12:113740736-113741469 Neighboring gene microRNA 6762 Neighboring gene P300/CBP strongly-dependent group 1 enhancer GRCh37_chr12:113744904-113746103 Neighboring gene solute carrier family 8 member B1 Neighboring gene MPRA-validated peak1972 silencer Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 4893

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_187402.1 

    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_000012.12 Reference GRCh38.p14 Primary Assembly

    Range
    113220693..113220842
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

Alternate T2T-CHM13v2.0

Genomic

  1. NC_060936.1 Alternate T2T-CHM13v2.0

    Range
    113197316..113197465
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)
Nucleotide Protein
Heading Accession and Version

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