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LOC112935961 Sharpr-MPRA regulatory region 2645 [ Homo sapiens (human) ]

Gene ID: 112935961, updated on 10-Oct-2023

Summary

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Gene symbol
LOC112935961
Gene description
Sharpr-MPRA regulatory region 2645
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 both HepG2 liver carcinoma cells (group: HepG2 Activating DNase matched - State 5:Enh, candidate strong enhancer, open chromatin) and K562 erythroleukemia cells (group: K562 Activating DNase unmatched - State 5:Enh). [provided by RefSeq, Aug 2018]
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Genomic context

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See LOC112935961 in Genome Data Viewer
Location:
3p
Annotation release Status Assembly Chr Location
RS_2023_10 current GRCh38.p14 (GCF_000001405.40) 3 NC_000003.12 (75432878..75433172)
RS_2023_10 current T2T-CHM13v2.0 (GCF_009914755.1) 3 NC_060927.1 (75485242..75485536)
105.20220307 previous assembly GRCh37.p13 (GCF_000001405.25) 3 NC_000003.11 (75482029..75482323)

Chromosome 3 - NC_000003.12Genomic Context describing neighboring genes Neighboring gene LSP1 pseudogene 2 Neighboring gene ALG1 like 6, pseudogene Neighboring gene H3K4me1 hESC enhancer GRCh37_chr3:75474297-75474798 Neighboring gene family with sequence similarity 86 member D, pseudogene Neighboring gene ATAC-STARR-seq lymphoblastoid active region 20103 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 14535 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 20104 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 14536 Neighboring gene long intergenic non-protein coding RNA 2018 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr3:75493298-75493842 Neighboring gene ectonucleotide pyrophosphatase/phosphodiesterase 7 pseudogene 2 Neighboring gene small nuclear ribonucleoprotein polypeptide C pseudogene 10

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_061476.1 

    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_000003.12 Reference GRCh38.p14 Primary Assembly

    Range
    75432878..75433172
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    GenBank, FASTA, Sequence Viewer (Graphics)

Reference GRCh38.p14 PATCHES

Genomic

  1. NW_021159989.1 Reference GRCh38.p14 PATCHES

    Range
    79525..79819
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    GenBank, FASTA, Sequence Viewer (Graphics)

Alternate T2T-CHM13v2.0

Genomic

  1. NC_060927.1 Alternate T2T-CHM13v2.0

    Range
    75485242..75485536
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    GenBank, FASTA, Sequence Viewer (Graphics)
Nucleotide Protein
Heading Accession and Version

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