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LOC130067228 ATAC-STARR-seq lymphoblastoid active region 18847 [ Homo sapiens (human) ]

Gene ID: 130067228, updated on 14-Oct-2023

Summary

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Gene symbol
LOC130067228
Gene description
ATAC-STARR-seq lymphoblastoid active region 18847
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 LOC130067228 in Genome Data Viewer
Location:
chromosome: 22
Annotation release Status Assembly Chr Location
RS_2023_10 current GRCh38.p14 (GCF_000001405.40) 22 NC_000022.11 (30969176..30969505)
RS_2023_10 current T2T-CHM13v2.0 (GCF_009914755.1) 22 NC_060946.1 (31432734..31433063)

Chromosome 22 - NC_000022.11Genomic Context describing neighboring genes Neighboring gene oxysterol binding protein 2 Neighboring gene uncharacterized LOC107985544 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 18846 Neighboring gene eukaryotic translation initiation factor 4H pseudogene 2 Neighboring gene MORC2 antisense RNA 1 Neighboring gene ReSE screen-validated silencer GRCh37_chr22:31335586-31335801 Neighboring gene MORC family CW-type zinc finger 2 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 13620 Neighboring gene MPRA-validated peak4481 silencer Neighboring gene taurine up-regulated 1 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr22:31439932-31440502 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr22:31440503-31441072 Neighboring gene RNA, 7SL, cytoplasmic 633, pseudogene Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 13621 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 18848 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 13622 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 13623 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr22:31481712-31482338 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr22:31492256-31492830 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr22:31492831-31493404 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr22:31499788-31500738 Neighboring gene smoothelin

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 across the chromatin accessible human genome. Hansen TJ, et al. Genome Res, 2022 Jul 20. 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_201643.1 

    Range
    101..430
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

RefSeqs of Annotated Genomes: GCF_000001405.40-RS_2023_10

The following sections contain reference sequences that belong to a specific genome build. Explain

Reference GRCh38.p14 Primary Assembly

Genomic

  1. NC_000022.11 Reference GRCh38.p14 Primary Assembly

    Range
    30969176..30969505
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

Alternate T2T-CHM13v2.0

Genomic

  1. NC_060946.1 Alternate T2T-CHM13v2.0

    Range
    31432734..31433063
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)
Nucleotide Protein
Heading Accession and Version

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