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LOC129993837 ATAC-STARR-seq lymphoblastoid active region 22504 [ Homo sapiens (human) ]

Gene ID: 129993837, updated on 12-Sep-2024

Summary

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Gene symbol
LOC129993837
Gene description
ATAC-STARR-seq lymphoblastoid active region 22504
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 LOC129993837 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 (40835123..40835282)
RS_2024_08 current T2T-CHM13v2.0 (GCF_009914755.1) 5 NC_060929.1 (41091547..41091706)
RS_2024_09 previous assembly GRCh37.p13 (GCF_000001405.25) 5 NC_000005.9 (40835225..40835384)

Chromosome 5 - NC_000005.10Genomic Context describing neighboring genes Neighboring gene protein kinase AMP-activated catalytic subunit alpha 1 Neighboring gene small nucleolar RNA SNORA57 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 15983 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 15984 Neighboring gene OCT4-NANOG-H3K27ac-H3K4me1 hESC enhancer GRCh37_chr5:40801183-40802004 Neighboring gene CRISPRi-validated cis-regulatory element chr5.1161 Neighboring gene NANOG-H3K27ac-H3K4me1 hESC enhancer GRCh37_chr5:40835903-40836726 Neighboring gene ribosomal protein L37 Neighboring gene small nucleolar RNA, C/D box 72 Neighboring gene ReSE screen-validated silencer GRCh37_chr5:40860098-40860299 Neighboring gene caspase recruitment domain family member 6 Neighboring gene MPRA-validated peak5236 silencer Neighboring gene MPRA-validated peak5237 silencer Neighboring gene BRD4-independent group 4 enhancer GRCh37_chr5:40877367-40878566 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr5:40895839-40896488 Neighboring gene RNA, U7 small nuclear 161 pseudogene Neighboring gene complement C7

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_173283.1 

    Range
    101..260
    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
    40835123..40835282
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    GenBank, FASTA, Sequence Viewer (Graphics)

Alternate T2T-CHM13v2.0

Genomic

  1. NC_060929.1 Alternate T2T-CHM13v2.0

    Range
    41091547..41091706
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)
Nucleotide Protein
Heading Accession and Version

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