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LOC130007145 ATAC-STARR-seq lymphoblastoid active region 5785 [ Homo sapiens (human) ]

Gene ID: 130007145, updated on 12-Sep-2024

Summary

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Gene symbol
LOC130007145
Gene description
ATAC-STARR-seq lymphoblastoid active region 5785
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 LOC130007145 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 (685715..685804)
RS_2024_08 current T2T-CHM13v2.0 (GCF_009914755.1) 12 NC_060936.1 (681665..681754)
RS_2024_09 previous assembly GRCh37.p13 (GCF_000001405.25) 12 NC_000012.11 (794881..794970)

Chromosome 12 - NC_000012.12Genomic Context describing neighboring genes Neighboring gene ninjurin 2 Neighboring gene RNA, U7 small nuclear 103 pseudogene Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr12:717809-718326 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr12:718327-718843 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr12:719097-719598 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr12:732135-732879 Neighboring gene NANOG-H3K27ac-H3K4me1 hESC enhancer GRCh37_chr12:732880-733623 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 4102 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 4103 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 5779 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 5780 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 5781 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 4104 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 4105 Neighboring gene NINJ2 antisense RNA 1 Neighboring gene MED14-independent group 3 enhancer GRCh37_chr12:754531-755730 Neighboring gene Sharpr-MPRA regulatory region 6322 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr12:775809-776308 Neighboring gene ReSE screen-validated silencer GRCh37_chr12:780043-780251 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 5782 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 5783 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 5784 Neighboring gene long intergenic non-protein coding RNA 2455 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 5786 Neighboring gene uncharacterized LOC101929432 Neighboring gene CRISPRi-validated cis-regulatory element chr12.51 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 5787 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 5788 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 5789 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 5790 Neighboring gene H3K27ac hESC enhancers GRCh37_chr12:861758-862476 and GRCh37_chr12:862477-863195 Neighboring gene RNA, U4atac small nuclear 16, pseudogene Neighboring gene WNK lysine deficient protein kinase 1

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_187819.1 

    Range
    101..190
    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
    685715..685804
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

Alternate T2T-CHM13v2.0

Genomic

  1. NC_060936.1 Alternate T2T-CHM13v2.0

    Range
    681665..681754
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)
Nucleotide Protein
Heading Accession and Version

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