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LOC129930446 ATAC-STARR-seq lymphoblastoid active region 972 [ Homo sapiens (human) ]

Gene ID: 129930446, updated on 14-Oct-2023

Summary

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Gene symbol
LOC129930446
Gene description
ATAC-STARR-seq lymphoblastoid active region 972
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 LOC129930446 in Genome Data Viewer
Location:
chromosome: 1
Annotation release Status Assembly Chr Location
RS_2023_10 current GRCh38.p14 (GCF_000001405.40) 1 NC_000001.11 (45508965..45509054)
RS_2023_10 current T2T-CHM13v2.0 (GCF_009914755.1) 1 NC_060925.1 (45381333..45381422)

Chromosome 1 - NC_000001.11Genomic Context describing neighboring genes Neighboring gene testis associated actin remodelling kinase 2 Neighboring gene peptidylprolyl isomerase A pseudogene 36 Neighboring gene ReSE screen-validated silencer GRCh37_chr1:45909108-45909337 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 829 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 970 Neighboring gene Sharpr-MPRA regulatory region 45 Neighboring gene H3K27ac hESC enhancer GRCh37_chr1:45965685-45966217 Neighboring gene CCDC163 homolog Neighboring gene metabolism of cobalamin associated C Neighboring gene ReSE screen-validated silencer GRCh37_chr1:45986750-45986912 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 973 Neighboring gene H3K27ac hESC enhancer GRCh37_chr1:45992726-45993234 Neighboring gene peroxiredoxin 1 Neighboring gene high mobility group box 1 pseudogene 48

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_171345.1 

    Range
    101..190
    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_000001.11 Reference GRCh38.p14 Primary Assembly

    Range
    45508965..45509054
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

Alternate T2T-CHM13v2.0

Genomic

  1. NC_060925.1 Alternate T2T-CHM13v2.0

    Range
    45381333..45381422
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)
Nucleotide Protein
Heading Accession and Version

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