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LOC123744818 Sharpr-MPRA regulatory region 6456 [ Homo sapiens (human) ]

Gene ID: 123744818, updated on 10-Oct-2023

Summary

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Gene symbol
LOC123744818
Gene description
Sharpr-MPRA regulatory region 6456
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 K562 erythroleukemia cells (group: K562 Repressive non-DNase unmatched - State 8:EnhW, candidate weak enhancer and open chromatin). [provided by RefSeq, Jan 2022]
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Genomic context

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See LOC123744818 in Genome Data Viewer
Location:
6p
Annotation release Status Assembly Chr Location
RS_2023_10 current GRCh38.p14 (GCF_000001405.40) 6 NC_000006.12 (49570636..49570930)
RS_2023_10 current T2T-CHM13v2.0 (GCF_009914755.1) 6 NC_060930.1 (49412736..49413030)
105.20220307 previous assembly GRCh37.p13 (GCF_000001405.25) 6 NC_000006.11 (49538349..49538643)

Chromosome 6 - NC_000006.12Genomic Context describing neighboring genes Neighboring gene glycine-N-acyltransferase like 3 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 17276 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 17277 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 24664 Neighboring gene OCT4-NANOG-H3K27ac-H3K4me1 hESC enhancer GRCh37_chr6:49519182-49519701 Neighboring gene chromosome 6 open reading frame 141 Neighboring gene cytochrome P450 family 2 subfamily AC member 1, pseudogene Neighboring gene NANOG hESC enhancer GRCh37_chr6:49553494-49553995 Neighboring gene MPRA-validated peak5837 silencer Neighboring gene Rh associated glycoprotein Neighboring gene GATA motif-containing MPRA enhancer 217 Neighboring gene Sharpr-MPRA regulatory region 4614 Neighboring gene MPRA-validated peak5838 silencer Neighboring gene cysteine rich secretory protein 2

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_078118.1 

    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
    49570636..49570930
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

Alternate T2T-CHM13v2.0

Genomic

  1. NC_060930.1 Alternate T2T-CHM13v2.0

    Range
    49412736..49413030
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)
Nucleotide Protein
Heading Accession and Version

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