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LOC130005597 ATAC-STARR-seq lymphoblastoid active region 4649 [ Homo sapiens (human) ]

Gene ID: 130005597, updated on 12-Sep-2024

Summary

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Gene symbol
LOC130005597
Gene description
ATAC-STARR-seq lymphoblastoid active region 4649
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 LOC130005597 in Genome Data Viewer
Location:
chromosome: 11
Annotation release Status Assembly Chr Location
RS_2024_08 current GRCh38.p14 (GCF_000001405.40) 11 NC_000011.10 (44066250..44066439)
RS_2024_08 current T2T-CHM13v2.0 (GCF_009914755.1) 11 NC_060935.1 (44221583..44221772)
RS_2024_09 previous assembly GRCh37.p13 (GCF_000001405.25) 11 NC_000011.9 (44087800..44087989)

Chromosome 11 - NC_000011.10Genomic Context describing neighboring genes Neighboring gene uncharacterized LOC124902663 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr11:43949635-43950136 Neighboring gene ReSE screen-validated silencer GRCh37_chr11:43955407-43955585 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 3270 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 3271 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr11:43964814-43965643 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr11:43965644-43966472 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr11:43968482-43968982 Neighboring gene ReSE screen-validated silencer GRCh37_chr11:43977126-43977352 Neighboring gene 1-aminocyclopropane-1-carboxylate synthase homolog (inactive) like Neighboring gene chromosome 11 open reading frame 96 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr11:44003904-44004404 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr11:44004405-44004905 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr11:44026425-44027286 Neighboring gene H3K27ac hESC enhancer GRCh37_chr11:44028815-44029314 Neighboring gene H3K27ac hESC enhancer GRCh37_chr11:44035825-44036324 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 4647 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 4648 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 3272 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 4650 Neighboring gene 1-aminocyclopropane-1-carboxylate synthase homolog (inactive) Neighboring gene ATAC-STARR-seq lymphoblastoid active region 4651 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 4652 Neighboring gene exostosin glycosyltransferase 2 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr11:44199715-44200215 Neighboring gene MED14-independent group 3 enhancer GRCh37_chr11:44218806-44220005 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr11:44283363-44283862 Neighboring gene VISTA enhancer hs2090 Neighboring gene ReSE screen-validated silencer GRCh37_chr11:44299108-44299425 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr11:44307156-44308129 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr11:44308130-44309102 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr11:44331667-44332595 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr11:44325021-44325566 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr11:44324475-44325020 Neighboring gene ALX homeobox 4

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_185042.1 

    Range
    101..290
    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_000011.10 Reference GRCh38.p14 Primary Assembly

    Range
    44066250..44066439
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

Alternate T2T-CHM13v2.0

Genomic

  1. NC_060935.1 Alternate T2T-CHM13v2.0

    Range
    44221583..44221772
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)
Nucleotide Protein
Heading Accession and Version

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