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LOC129992443 ATAC-STARR-seq lymphoblastoid active region 21452 [ Homo sapiens (human) ]

Gene ID: 129992443, updated on 12-Sep-2024

Summary

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Gene symbol
LOC129992443
Gene description
ATAC-STARR-seq lymphoblastoid active region 21452
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 LOC129992443 in Genome Data Viewer
Location:
chromosome: 4
Annotation release Status Assembly Chr Location
RS_2024_08 current GRCh38.p14 (GCF_000001405.40) 4 NC_000004.12 (38819613..38819732)
RS_2024_08 current T2T-CHM13v2.0 (GCF_009914755.1) 4 NC_060928.1 (38789746..38789865)
RS_2024_09 previous assembly GRCh37.p13 (GCF_000001405.25) 4 NC_000004.11 (38821234..38821353)

Chromosome 4 - NC_000004.12Genomic Context describing neighboring genes Neighboring gene Neanderthal introgressed variant-containing enhancer experimental_79956/79957 Neighboring gene Sharpr-MPRA regulatory region 13104 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 21449 Neighboring gene Neanderthal introgressed variant-containing enhancers experimental_79971, experimental_79978, experimental_79983/79985 and experimental_79990 Neighboring gene Neanderthal introgressed variant-containing enhancer experimental_80014/80015 Neighboring gene Neanderthal introgressed variant-containing enhancer experimental_80021 Neighboring gene Neanderthal introgressed variant-containing enhancer experimental_80029 Neighboring gene uncharacterized LOC124900695 Neighboring gene toll like receptor 1 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 21450 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 21451 Neighboring gene Neanderthal introgressed variant-containing enhancer experimental_80034 Neighboring gene Neanderthal introgressed variant-containing enhancer experimental_80044 Neighboring gene toll like receptor 6 Neighboring gene MED14-independent group 3 enhancer GRCh37_chr4:38858887-38860086 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 15364 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 15365 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr4:38869978-38870561 Neighboring gene family with sequence similarity 114 member A1 Neighboring gene Neanderthal introgressed variant-containing enhancer experimental_80048 Neighboring gene microRNA 574 Neighboring gene Neanderthal introgressed variant-containing enhancer experimental_80049 Neighboring gene Neanderthal introgressed variant-containing enhancer experimental_80051 Neighboring gene transmembrane protein 156 Neighboring gene H3K27ac hESC enhancer GRCh37_chr4:38989899-38990398

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_171889.1 

    Range
    101..220
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    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_000004.12 Reference GRCh38.p14 Primary Assembly

    Range
    38819613..38819732
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    GenBank, FASTA, Sequence Viewer (Graphics)

Alternate T2T-CHM13v2.0

Genomic

  1. NC_060928.1 Alternate T2T-CHM13v2.0

    Range
    38789746..38789865
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)
Nucleotide Protein
Heading Accession and Version

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