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LOC123620099 Sharpr-MPRA regulatory region 12831 [ Homo sapiens (human) ]

Gene ID: 123620099, updated on 10-Oct-2023

Summary

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Gene symbol
LOC123620099
Gene description
Sharpr-MPRA regulatory region 12831
Gene type
biological region
Feature type(s)
regulatory: silencer
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 repressive element 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 Repressive non-DNase unmatched - State 20:ReprD, Polycomb repression w. Duke DNase/promoter and conservation enriched) and K562 erythroleukemia cells (group: K562 Repressive DNase matched - State 8:EnhW, candidate weak enhancer and open chromatin). [provided by RefSeq, Dec 2021]
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Genomic context

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Location:
6p
Annotation release Status Assembly Chr Location
RS_2023_10 current GRCh38.p14 (GCF_000001405.40) 6 NC_000006.12 (36825513..36825807)
RS_2023_10 current T2T-CHM13v2.0 (GCF_009914755.1) 6 NC_060930.1 (36646112..36646406)
105.20220307 previous assembly GRCh37.p13 (GCF_000001405.25) 6 NC_000006.11 (36793289..36793583)

Chromosome 6 - NC_000006.12Genomic Context describing neighboring genes Neighboring gene H3K4me1 hESC enhancer GRCh37_chr6:36684729-36685230 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 24441 Neighboring gene RAB44, member RAS oncogene family Neighboring gene ATAC-STARR-seq lymphoblastoid active region 24442 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 24443 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr6:36703037-36703538 Neighboring gene MPRA-validated peak5789 silencer Neighboring gene MED14-independent group 3 enhancer GRCh37_chr6:36723139-36724338 Neighboring gene G protein-coupled receptor 166 pseudogene Neighboring gene H3K4me1 hESC enhancer GRCh37_chr6:36727049-36728017 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr6:36733508-36734405 Neighboring gene copine 5 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr6:36736445-36736976 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr6:36739695-36740194 Neighboring gene OCT4-H3K4me1 hESC enhancer GRCh37_chr6:36744935-36745643 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr6:36761234-36761900 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr6:36761901-36762565 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr6:36773485-36773986 Neighboring gene ReSE screen-validated silencer GRCh37_chr6:36778800-36778968 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 17121 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr6:36808578-36809128 Neighboring gene Neanderthal introgressed variant-containing enhancer experimental_91463 Neighboring gene H3K27ac hESC enhancer GRCh37_chr6:36827605-36828106 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr6:36835405-36835904 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 24445 Neighboring gene peptidylprolyl isomerase like 1 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 24446 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 17122 Neighboring gene chromosome 6 open reading frame 89 Neighboring gene Sharpr-MPRA regulatory region 12138 Neighboring gene ReSE screen-validated silencer GRCh37_chr6:36907574-36908164 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr6:36926417-36926918 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr6:36926919-36927418 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr6:36930796-36931421 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr6:36931422-36932046 Neighboring gene peptidase inhibitor 16

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_078083.1 

    Range
    101..395
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    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_000006.12 Reference GRCh38.p14 Primary Assembly

    Range
    36825513..36825807
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

Alternate T2T-CHM13v2.0

Genomic

  1. NC_060930.1 Alternate T2T-CHM13v2.0

    Range
    36646112..36646406
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)
Nucleotide Protein
Heading Accession and Version

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