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LOC130067039 ATAC-STARR-seq lymphoblastoid active region 18710 [ Homo sapiens (human) ]

Gene ID: 130067039, updated on 12-Sep-2024

Summary

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Gene symbol
LOC130067039
Gene description
ATAC-STARR-seq lymphoblastoid active region 18710
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 LOC130067039 in Genome Data Viewer
Location:
chromosome: 22
Annotation release Status Assembly Chr Location
RS_2024_08 current GRCh38.p14 (GCF_000001405.40) 22 NC_000022.11 (21767082..21767151)
RS_2024_08 current T2T-CHM13v2.0 (GCF_009914755.1) 22 NC_060946.1 (22180574..22180643)
RS_2024_09 previous assembly GRCh37.p13 (GCF_000001405.25) 22 NC_000022.10 (22121371..22121440)

Chromosome 22 - NC_000022.11Genomic Context describing neighboring genes Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr22:22020233-22021143 Neighboring gene ReSE screen-validated silencer GRCh37_chr22:22029290-22029497 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr22:22035719-22036220 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr22:22041165-22041665 Neighboring gene peptidylprolyl isomerase like 2 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 18702 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 18703 Neighboring gene CDK7 strongly-dependent group 2 enhancer GRCh37_chr22:22064332-22065531 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 18704 Neighboring gene ReSE screen-validated silencer GRCh37_chr22:22068158-22068316 Neighboring gene yippee like 1 Neighboring gene ReSE screen-validated silencer GRCh37_chr22:22077940-22078170 Neighboring gene ReSE screen-validated silencer GRCh37_chr22:22084296-22084483 Neighboring gene RNA, 7SL, cytoplasmic 280, pseudogene Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 13514 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 13515 Neighboring gene Neanderthal introgressed variant-containing enhancer experimental_63007 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 18705 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 18706 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 18707 Neighboring gene ReSE screen-validated silencer GRCh37_chr22:22112788-22113234 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 18708 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 18709 Neighboring gene mitogen-activated protein kinase 1 Neighboring gene ReSE screen-validated silencer GRCh37_chr22:22144051-22144194 Neighboring gene BRD4-independent group 4 enhancer GRCh37_chr22:22145734-22146933 Neighboring gene MPRA-validated peak4466 silencer Neighboring gene RNA, 5S ribosomal pseudogene 493 Neighboring gene ReSE screen-validated silencer GRCh37_chr22:22165820-22166034 Neighboring gene Sharpr-MPRA regulatory region 14215 Neighboring gene ReSE screen-validated silencer GRCh37_chr22:22192349-22192556 Neighboring gene MPRA-validated peak4467 silencer Neighboring gene H3K4me1 hESC enhancer GRCh37_chr22:22210131-22210632 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 13517 Neighboring gene NANOG-H3K27ac hESC enhancer GRCh37_chr22:22237113-22237874 Neighboring gene MPPE1 pseudogene 2

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_201454.1 

    Range
    101..170
    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_000022.11 Reference GRCh38.p14 Primary Assembly

    Range
    21767082..21767151
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

Alternate T2T-CHM13v2.0

Genomic

  1. NC_060946.1 Alternate T2T-CHM13v2.0

    Range
    22180574..22180643
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)
Nucleotide Protein
Heading Accession and Version

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