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LOC112694701 Sharpr-MPRA regulatory region 918 [ Homo sapiens (human) ]

Gene ID: 112694701, updated on 10-Oct-2023

Summary

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Gene symbol
LOC112694701
Gene description
Sharpr-MPRA regulatory region 918
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 non-DNase unmatched - State 20:ReprD, Polycomb repression with Duke DNase/promoter and conservation enriched) and K562 erythroleukemia cells (group: K562 Activating non-DNase unmatched - State 22:ReprW, weaker Polycomb repression). [provided by RefSeq, Jul 2018]
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Genomic context

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Location:
20q
Annotation release Status Assembly Chr Location
RS_2023_10 current GRCh38.p14 (GCF_000001405.40) 20 NC_000020.11 (31909606..31909900)
RS_2023_10 current T2T-CHM13v2.0 (GCF_009914755.1) 20 NC_060944.1 (33634249..33634543)
105.20220307 previous assembly GRCh37.p13 (GCF_000001405.25) 20 NC_000020.10 (30497409..30497703)

Chromosome 20 - NC_000020.11Genomic Context describing neighboring genes Neighboring gene ATAC-STARR-seq lymphoblastoid active region 17701 Neighboring gene dual specificity phosphatase 15 Neighboring gene forkhead box S1 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 12766 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 12767 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 12768 Neighboring gene H3K27ac hESC enhancer GRCh37_chr20:30467121-30467620 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 12769 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 12770 Neighboring gene tubulin tyrosine ligase like 9 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 17702 Neighboring gene RNA, U1 small nuclear 94, pseudogene Neighboring gene ATAC-STARR-seq lymphoblastoid active region 17703 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 17704 Neighboring gene p53 and DNA damage regulated 1 Neighboring gene ReSE screen-validated silencer GRCh37_chr20:30556227-30556404 Neighboring gene H3K27ac hESC enhancer GRCh37_chr20:30559879-30560380 Neighboring gene H3K27ac hESC enhancer GRCh37_chr20:30560381-30560880 Neighboring gene H3K27ac hESC enhancer GRCh37_chr20:30564043-30564544 Neighboring gene XK related 7 Neighboring gene H3K27ac hESC enhancer GRCh37_chr20:30575890-30576724 Neighboring gene H3K27ac hESC enhancer GRCh37_chr20:30576725-30577558

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_060731.1 

    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_000020.11 Reference GRCh38.p14 Primary Assembly

    Range
    31909606..31909900
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

Alternate T2T-CHM13v2.0

Genomic

  1. NC_060944.1 Alternate T2T-CHM13v2.0

    Range
    33634249..33634543
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)
Nucleotide Protein
Heading Accession and Version

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