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LOC129993967 ATAC-STARR-seq lymphoblastoid active region 22601 [ Homo sapiens (human) ]

Gene ID: 129993967, updated on 12-Sep-2024

Summary

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Gene symbol
LOC129993967
Gene description
ATAC-STARR-seq lymphoblastoid active region 22601
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 LOC129993967 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 (65043563..65043702)
RS_2024_08 current T2T-CHM13v2.0 (GCF_009914755.1) 5 NC_060929.1 (65863688..65863827)
RS_2024_09 previous assembly GRCh37.p13 (GCF_000001405.25) 5 NC_000005.9 (64339390..64339529)

Chromosome 5 - NC_000005.10Genomic Context describing neighboring genes Neighboring gene uncharacterized LOC124900985 Neighboring gene SREK1 interacting protein 1 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 16053 Neighboring gene MED14-independent group 3 enhancer GRCh37_chr5:64063900-64065099 Neighboring gene MPRA-validated peak5266 silencer Neighboring gene CWC27 spliceosome associated cyclophilin Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr5:64235623-64236166 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr5:64236167-64236709 Neighboring gene MPRA-validated peak5267 silencer Neighboring gene BRD4-independent group 4 enhancer GRCh37_chr5:64327460-64328659 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr5:64331341-64331857 Neighboring gene Sharpr-MPRA regulatory region 13369 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 22602 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 22603 Neighboring gene uncharacterized LOC107986419 Neighboring gene H3K27ac hESC enhancer GRCh37_chr5:64398316-64398816 Neighboring gene H3K27ac hESC enhancer GRCh37_chr5:64398817-64399317 Neighboring gene ADAM metallopeptidase with thrombospondin type 1 motif 6 Neighboring gene ribosomal protein L5 pseudogene

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_173413.1 

    Range
    101..240
    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
    65043563..65043702
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

Alternate T2T-CHM13v2.0

Genomic

  1. NC_060929.1 Alternate T2T-CHM13v2.0

    Range
    65863688..65863827
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)
Nucleotide Protein
Heading Accession and Version

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