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LOC121815942 Sharpr-MPRA regulatory region 11943 [ Homo sapiens (human) ]

Gene ID: 121815942, updated on 10-Oct-2023

Summary

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Gene symbol
LOC121815942
Gene description
Sharpr-MPRA regulatory region 11943
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 was predicted to be a transcriptional regulatory region based on chromatin state analysis from the ENCODE (ENCyclopedia Of DNA Elements) project. A subregion was validated as a functional enhancer by Sharpr-MPRA (Systematic high-resolution activation and repression profiling with reporter tiling using massively parallel reporter assays) in K562 erythroleukemia cells (group: K562 Activating DNase matched - State 4:PromP, inactive/poised promoter, highly conserved). This locus also includes an accessible chromatin subregion 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) MPRA in GM12878 lymphoblastoid cells. [provided by RefSeq, May 2023]
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Genomic context

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Location:
10q
Annotation release Status Assembly Chr Location
RS_2023_10 current GRCh38.p14 (GCF_000001405.40) 10 NC_000010.11 (62049139..62049444)
RS_2023_10 current T2T-CHM13v2.0 (GCF_009914755.1) 10 NC_060934.1 (62905792..62906097)
105.20220307 previous assembly GRCh37.p13 (GCF_000001405.25) 10 NC_000010.10 (63808909..63809203)

Chromosome 10 - NC_000010.11Genomic Context describing neighboring genes Neighboring gene CRISPRi-validated cis-regulatory element chr10.1925 Neighboring gene CDK7 strongly-dependent group 2 enhancer GRCh37_chr10:63541146-63542345 Neighboring gene long intergenic non-protein coding RNA 2625 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 3397 Neighboring gene Sharpr-MPRA regulatory region 13978 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 3398 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 2393 Neighboring gene H3K27ac hESC enhancer GRCh37_chr10:63661148-63661650 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 2394 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 3399 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 3400 Neighboring gene AT-rich interaction domain 5B Neighboring gene NANOG hESC enhancer GRCh37_chr10:63746020-63746682 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 3401 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 3402 Neighboring gene uncharacterized LOC124902435 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 3403 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 3404 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 3405 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 3407 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 3406 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 3408 Neighboring gene BRD4-independent group 4 enhancer GRCh37_chr10:63810242-63811441 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 3410 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 3411 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 3412 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 2395 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 3413 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 3414 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 2396 Neighboring gene Neanderthal introgressed variant-containing enhancer experimental_13587 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 3415 Neighboring gene Neanderthal introgressed variant-containing enhancer experimental_13605 Neighboring gene rhotekin 2 Neighboring gene NANOG hESC enhancer GRCh37_chr10:64024383-64024884 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 2397 Neighboring gene long intergenic non-protein coding RNA 2621 Neighboring gene uncharacterized LOC283045 Neighboring gene RNA, 7SL, cytoplasmic 591, 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. Genome-scale high-resolution mapping of activating and repressive nucleotides in regulatory regions. Ernst J, et al. Nat Biotechnol, 2016 Nov. PMID 27701403, Free PMC Article
  2. ATAC-STARR-seq reveals transcription factor-bound activators and silencers across the chromatin accessible human genome. Hansen TJ, et al. Genome Res, 2022 Jul 20. 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)

General gene information

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Other Names

  • ATAC-STARR-seq lymphoblastoid active region 3409

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_075836.2 

    Range
    101..406
    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_000010.11 Reference GRCh38.p14 Primary Assembly

    Range
    62049139..62049444
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

Alternate T2T-CHM13v2.0

Genomic

  1. NC_060934.1 Alternate T2T-CHM13v2.0

    Range
    62905792..62906097
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)
Nucleotide Protein
Heading Accession and Version

Gene LinkOut

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Other Literature Sources
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