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LOC129993750 ATAC-STARR-seq lymphoblastoid active region 22435 [ Homo sapiens (human) ]

Gene ID: 129993750, updated on 12-Sep-2024

Summary

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Gene symbol
LOC129993750
Gene description
ATAC-STARR-seq lymphoblastoid active region 22435
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 LOC129993750 in Genome Data Viewer
Location:
chromosome: 5
Annotation release Status Assembly Chr Location
RS_2024_08 current GRCh38.p14 (GCF_000001405.40) 5 NC_000005.10 (32020345..32020394)
RS_2024_08 current T2T-CHM13v2.0 (GCF_009914755.1) 5 NC_060929.1 (32133939..32133988)
RS_2024_09 previous assembly GRCh37.p13 (GCF_000001405.25) 5 NC_000005.9 (32020451..32020500)

Chromosome 5 - NC_000005.10Genomic Context describing neighboring genes Neighboring gene PDZ domain containing 2 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr5:31923061-31923560 Neighboring gene mitochondrial import receptor subunit TOM7 homolog Neighboring gene NANOG hESC enhancer GRCh37_chr5:31965348-31965849 Neighboring gene microRNA 4279 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr5:32016671-32017172 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr5:32017173-32017672 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 22436 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr5:32027139-32027640 Neighboring gene NANOG hESC enhancer GRCh37_chr5:32041483-32042015 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr5:32092735-32093236 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr5:32093237-32093736 Neighboring gene uncharacterized LOC105374711 Neighboring gene CDK7 strongly-dependent group 2 enhancer GRCh37_chr5:32097810-32099009 Neighboring gene CDK7 strongly-dependent group 2 enhancer GRCh37_chr5:32125750-32126949 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 15953 Neighboring gene golgi phosphoprotein 3

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_173196.1 

    Range
    101..150
    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_000005.10 Reference GRCh38.p14 Primary Assembly

    Range
    32020345..32020394
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

Alternate T2T-CHM13v2.0

Genomic

  1. NC_060929.1 Alternate T2T-CHM13v2.0

    Range
    32133939..32133988
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)
Nucleotide Protein
Heading Accession and Version

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