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LOC130062557 ATAC-STARR-seq lymphoblastoid active region 13373 [ Homo sapiens (human) ]

Gene ID: 130062557, updated on 12-Sep-2024

Summary

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Gene symbol
LOC130062557
Gene description
ATAC-STARR-seq lymphoblastoid active region 13373
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 LOC130062557 in Genome Data Viewer
Location:
chromosome: 18
Annotation release Status Assembly Chr Location
RS_2024_08 current GRCh38.p14 (GCF_000001405.40) 18 NC_000018.10 (57581299..57581478)
RS_2024_08 current T2T-CHM13v2.0 (GCF_009914755.1) 18 NC_060942.1 (57781651..57781830)
RS_2024_09 previous assembly GRCh37.p13 (GCF_000001405.25) 18 NC_000018.9 (55248531..55248710)

Chromosome 18 - NC_000018.10Genomic Context describing neighboring genes Neighboring gene ST8 alpha-N-acetyl-neuraminide alpha-2,8-sialyltransferase 3 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 9477 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr18:55101332-55101912 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr18:55101913-55102492 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 9478 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr18:55104607-55105362 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr18:55106119-55106874 Neighboring gene FOXA motif-containing MPRA enhancer 78 Neighboring gene one cut homeobox 2 Neighboring gene Neanderthal introgressed variant-containing enhancers experimental_48194 and experimental_48198 Neighboring gene Neanderthal introgressed variant-containing enhancer experimental_48219 Neighboring gene Neanderthal introgressed variant-containing enhancer experimental_48245 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 13369 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 13370 Neighboring gene MPRA-validated peak3163 silencer Neighboring gene ReSE screen-validated silencer GRCh37_chr18:55230082-55230255 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 13371 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 13372 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 9479 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 9480 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 9481 Neighboring gene ferrochelatase Neighboring gene Sharpr-MPRA regulatory region 4588 Neighboring gene H3K27ac hESC enhancer GRCh37_chr18:55288917-55289621 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 13375 Neighboring gene H3K27ac hESC enhancer GRCh37_chr18:55297311-55297811 Neighboring gene H3K27ac hESC enhancer GRCh37_chr18:55300102-55300950 Neighboring gene ATP8B1 antisense RNA 1 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr18:55310728-55311239 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr18:55311240-55311750 Neighboring gene asparaginyl-tRNA synthetase 1 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 13377 Neighboring gene ATPase phospholipid transporting 8B1

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_195449.1 

    Range
    101..280
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    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_000018.10 Reference GRCh38.p14 Primary Assembly

    Range
    57581299..57581478
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    GenBank, FASTA, Sequence Viewer (Graphics)

Alternate T2T-CHM13v2.0

Genomic

  1. NC_060942.1 Alternate T2T-CHM13v2.0

    Range
    57781651..57781830
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)
Nucleotide Protein
Heading Accession and Version

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