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LOC129993345 ATAC-STARR-seq lymphoblastoid active region 22123 [ Homo sapiens (human) ]

Gene ID: 129993345, updated on 14-Oct-2023

Summary

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Gene symbol
LOC129993345
Gene description
ATAC-STARR-seq lymphoblastoid active region 22123
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 LOC129993345 in Genome Data Viewer
Location:
chromosome: 4
Annotation release Status Assembly Chr Location
RS_2023_10 current GRCh38.p14 (GCF_000001405.40) 4 NC_000004.12 (167381062..167381211)
RS_2023_10 current T2T-CHM13v2.0 (GCF_009914755.1) 4 NC_060928.1 (170739509..170739658)

Chromosome 4 - NC_000004.12Genomic Context describing neighboring genes Neighboring gene tolloid like 1 Neighboring gene RNA, 5S ribosomal pseudogene 170 Neighboring gene Sharpr-MPRA regulatory region 13283 Neighboring gene Neanderthal introgressed variant-containing enhancer experimental_75833 Neighboring gene Neanderthal introgressed variant-containing enhancer experimental_75852 Neighboring gene Neanderthal introgressed variant-containing enhancer experimental_75875 Neighboring gene Neanderthal introgressed variant-containing enhancer experimental_75970 Neighboring gene Neanderthal introgressed variant-containing enhancer experimental_75989 Neighboring gene Sharpr-MPRA regulatory region 523 Neighboring gene Neanderthal introgressed variant-containing enhancer experimental_76035 Neighboring gene OCT4-NANOG-H3K27ac-H3K4me1 hESC enhancer GRCh37_chr4:167490745-167491404 Neighboring gene OCT4-NANOG-H3K27ac-H3K4me1 hESC enhancer GRCh37_chr4:167491405-167492062 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 22121 Neighboring gene OCT4-NANOG-H3K27ac hESC enhancer GRCh37_chr4:167636733-167637577 Neighboring gene OCT4-NANOG-H3K27ac hESC enhancer GRCh37_chr4:167637578-167638421 Neighboring gene OCT4-NANOG-H3K27ac hESC enhancer GRCh37_chr4:167642620-167643500 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 22122 Neighboring gene NANOG hESC enhancer GRCh37_chr4:167796983-167797484 Neighboring gene SPARC (osteonectin), cwcv and kazal like domains proteoglycan 3 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 15787 Neighboring gene RNA, 5S ribosomal pseudogene 171 Neighboring gene RNA, 7SL, cytoplasmic 776, pseudogene Neighboring gene MED14-independent group 3 enhancer GRCh37_chr4:168508591-168509790 Neighboring gene Neanderthal introgressed variant-containing enhancer experimental_76084 Neighboring gene Neanderthal introgressed variant-containing enhancer experimental_76088 Neighboring gene PHB1 pseudogene 14

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

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_172791.1 

    Range
    101..250
    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_000004.12 Reference GRCh38.p14 Primary Assembly

    Range
    167381062..167381211
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

Alternate T2T-CHM13v2.0

Genomic

  1. NC_060928.1 Alternate T2T-CHM13v2.0

    Range
    170739509..170739658
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)
Nucleotide Protein
Heading Accession and Version

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