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LOC121815959 Sharpr-MPRA regulatory region 10262 [ Homo sapiens (human) ]

Gene ID: 121815959, updated on 10-Oct-2023

Summary

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Gene symbol
LOC121815959
Gene description
Sharpr-MPRA regulatory region 10262
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. It was validated as a functional enhancer by the Sharpr-MPRA technique (Systematic high-resolution activation and repression profiling with reporter tiling using massively parallel reporter assays) in K562 erythroleukemia cells (group: K562 Activating non-DNase unmatched - State 7:EnhWF, candidate poised/weak enhancer, flanking open chromatin of candidate enhancers). [provided by RefSeq, Jul 2021]
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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 (97596272..97596566)
RS_2023_10 current T2T-CHM13v2.0 (GCF_009914755.1) 10 NC_060934.1 (98476474..98476768)
105.20220307 previous assembly GRCh37.p13 (GCF_000001405.25) 10 NC_000010.10 (99356029..99356323)

Chromosome 10 - NC_000010.11Genomic Context describing neighboring genes Neighboring gene Sharpr-MPRA regulatory region 14301 Neighboring gene ankyrin repeat domain 2 Neighboring gene 4-hydroxy-2-oxoglutarate aldolase 1 Neighboring gene chromosome 10 open reading frame 62 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr10:99366549-99367050 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr10:99367051-99367550 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 3853 Neighboring gene MORN repeat containing 4 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 3854 Neighboring gene ReSE screen-validated silencer GRCh37_chr10:99399170-99399353 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 2683 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 3855 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 3856 Neighboring gene phosphatidylinositol 4-kinase type 2 alpha Neighboring gene MED14-independent group 3 enhancer GRCh37_chr10:99411103-99412302 Neighboring gene H3K27ac hESC enhancer GRCh37_chr10:99435535-99436034

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

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_075853.1 

    Range
    101..395
    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
    97596272..97596566
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

Alternate T2T-CHM13v2.0

Genomic

  1. NC_060934.1 Alternate T2T-CHM13v2.0

    Range
    98476474..98476768
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)
Nucleotide Protein
Heading Accession and Version

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Other Literature Sources
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