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LOC123864081 Sharpr-MPRA regulatory region 11439 [ Homo sapiens (human) ]

Gene ID: 123864081, updated on 10-Oct-2023

Summary

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Gene symbol
LOC123864081
Gene description
Sharpr-MPRA regulatory region 11439
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 DNase matched - State 12:CtcfO, distal CTCF/candidate insulator with open chromatin) and K562 erythroleukemia cells (group: K562 Repressive non-DNase unmatched - State 12:CtcfO). [provided by RefSeq, Jan 2022]
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Genomic context

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See LOC123864081 in Genome Data Viewer
Location:
6q
Annotation release Status Assembly Chr Location
RS_2023_10 current GRCh38.p14 (GCF_000001405.40) 6 NC_000006.12 (139250572..139250866)
RS_2023_10 current T2T-CHM13v2.0 (GCF_009914755.1) 6 NC_060930.1 (140439063..140439357)
105.20220307 previous assembly GRCh37.p13 (GCF_000001405.25) 6 NC_000006.11 (139571709..139572003)

Chromosome 6 - NC_000006.12Genomic Context describing neighboring genes Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 17603 Neighboring gene Sharpr-MPRA regulatory region 12009 Neighboring gene ABRA C-terminal like Neighboring gene Sharpr-MPRA regulatory region 5517 Neighboring gene H3K27ac hESC enhancer GRCh37_chr6:139447769-139448270 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 25165 Neighboring gene Sharpr-MPRA regulatory region 4168 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 17606 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 17607 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 25166 Neighboring gene H3K27ac hESC enhancer GRCh37_chr6:139484703-139485202 Neighboring gene hdc homolog, cell cycle regulator Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 17608 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 25167 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 25168 Neighboring gene taxilin beta Neighboring gene H3K4me1 hESC enhancer GRCh37_chr6:139563281-139563806 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr6:139563807-139564332 Neighboring gene P300/CBP strongly-dependent group 1 enhancer GRCh37_chr6:139583345-139584544 Neighboring gene uncharacterized LOC102723690 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 25169 Neighboring gene Sharpr-MPRA regulatory region 14530 Neighboring gene OCT4-NANOG-H3K27ac-H3K4me1 hESC enhancer GRCh37_chr6:139634569-139635306 Neighboring gene OCT4-NANOG-H3K27ac hESC enhancer GRCh37_chr6:139635307-139636044 Neighboring gene DnaJ heat shock protein family (Hsp40) member C7 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

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_078213.1 

    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_000006.12 Reference GRCh38.p14 Primary Assembly

    Range
    139250572..139250866
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

Alternate T2T-CHM13v2.0

Genomic

  1. NC_060930.1 Alternate T2T-CHM13v2.0

    Range
    140439063..140439357
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)
Nucleotide Protein
Heading Accession and Version

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