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LOC130067313 ATAC-STARR-seq lymphoblastoid active region 18916 [ Homo sapiens (human) ]

Gene ID: 130067313, updated on 14-Oct-2023

Summary

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Gene symbol
LOC130067313
Gene description
ATAC-STARR-seq lymphoblastoid active region 18916
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 LOC130067313 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 (36162199..36162358)
RS_2023_10 current T2T-CHM13v2.0 (GCF_009914755.1) 22 NC_060946.1 (36622383..36622542)

Chromosome 22 - NC_000022.11Genomic Context describing neighboring genes Neighboring gene RNA binding fox-1 homolog 2 Neighboring gene ribosomal protein L41 pseudogene 3 Neighboring gene H3K27ac hESC enhancer GRCh37_chr22:36278945-36279446 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr22:36312425-36313104 Neighboring gene NADH:ubiquinone oxidoreductase subunit A9 pseudogene 1 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 13660 Neighboring gene NANOG-H3K4me1 hESC enhancer GRCh37_chr22:36431275-36432018 Neighboring gene MED14-independent group 3 enhancer GRCh37_chr22:36448074-36449273 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr22:36481448-36482174 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr22:36512656-36513156 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr22:36513157-36513657 Neighboring gene Sharpr-MPRA regulatory region 8708 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr22:36528024-36528524 Neighboring gene MED14-independent group 3 enhancer GRCh37_chr22:36530251-36531450 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr22:36537001-36537502 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr22:36537503-36538002 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr22:36552799-36553402 Neighboring gene NANOG hESC enhancer GRCh37_chr22:36557722-36558295 Neighboring gene apolipoprotein L3 Neighboring gene MT-CO1 pseudogene 20 Neighboring gene MT-CO2 pseudogene 20

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_201728.1 

    Range
    101..260
    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
    36162199..36162358
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

Alternate T2T-CHM13v2.0

Genomic

  1. NC_060946.1 Alternate T2T-CHM13v2.0

    Range
    36622383..36622542
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)
Nucleotide Protein
Heading Accession and Version

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