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LOC129935893 ATAC-STARR-seq lymphoblastoid active region 17344 [ Homo sapiens (human) ]

Gene ID: 129935893, updated on 12-Sep-2024

Summary

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Gene symbol
LOC129935893
Gene description
ATAC-STARR-seq lymphoblastoid active region 17344
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 LOC129935893 in Genome Data Viewer
Location:
chromosome: 2
Annotation release Status Assembly Chr Location
RS_2024_08 current GRCh38.p14 (GCF_000001405.40) 2 NC_000002.12 (233380613..233380682)
RS_2024_08 current T2T-CHM13v2.0 (GCF_009914755.1) 2 NC_060926.1 (233868676..233868745)
RS_2024_09 previous assembly GRCh37.p13 (GCF_000001405.25) 2 NC_000002.11 (234289259..234289328)

Chromosome 2 - NC_000002.12Genomic Context describing neighboring genes Neighboring gene autophagy related 16 like 1 Neighboring gene NANOG hESC enhancer GRCh37_chr2:234197330-234197831 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr2:234227861-234228828 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr2:234228829-234229795 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 17338 Neighboring gene small Cajal body-specific RNA 6 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr2:234234987-234235964 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr2:234237262-234238093 Neighboring gene OCT4-NANOG hESC enhancer GRCh37_chr2:234238124-234238905 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 17339 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 17340 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 17341 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 12470 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 17342 Neighboring gene MPRA-validated peak4087 silencer Neighboring gene S-antigen visual arrestin Neighboring gene ATAC-STARR-seq lymphoblastoid active region 17343 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 17345 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr2:234307646-234308151 Neighboring gene diacylglycerol kinase delta Neighboring gene ATAC-STARR-seq lymphoblastoid active region 17346 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 12471 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 17347 Neighboring gene MED14-independent group 3 enhancer GRCh37_chr2:234334881-234336080 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 17349 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 17348 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr2:234359341-234359904 Neighboring gene ReSE screen-validated silencer GRCh37_chr2:234376565-234376780 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr2:234382503-234383102 Neighboring gene ubiquitin specific peptidase 40 Neighboring gene PPFIA1 pseudogene 1 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr2:234491694-234492284 Neighboring gene UDP glucuronosyltransferase family 1 member A12, pseudogene Neighboring gene UDP glucuronosyltransferase family 1 member A complex locus

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_168904.1 

    Range
    101..170
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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_000002.12 Reference GRCh38.p14 Primary Assembly

    Range
    233380613..233380682
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    GenBank, FASTA, Sequence Viewer (Graphics)

Reference GRCh38.p14 PATCHES

Genomic

  1. NW_011332690.1 Reference GRCh38.p14 PATCHES

    Range
    325951..326020
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    GenBank, FASTA, Sequence Viewer (Graphics)

Alternate T2T-CHM13v2.0

Genomic

  1. NC_060926.1 Alternate T2T-CHM13v2.0

    Range
    233868676..233868745
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)
Nucleotide Protein
Heading Accession and Version

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