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LOC122094899 Sharpr-MPRA regulatory region 8072 [ Homo sapiens (human) ]

Gene ID: 122094899, updated on 10-Oct-2023

Summary

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Gene symbol
LOC122094899
Gene description
Sharpr-MPRA regulatory region 8072
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 20:ReprD, Polycomb repression w. Duke DNase/promoter and conservation enriched). [provided by RefSeq, Jul 2021]
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Genomic context

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Location:
1p
Annotation release Status Assembly Chr Location
RS_2023_10 current GRCh38.p14 (GCF_000001405.40) 1 NC_000001.11 (112509307..112509601)
RS_2023_10 current T2T-CHM13v2.0 (GCF_009914755.1) 1 NC_060925.1 (112521876..112522170)
105.20220307 previous assembly GRCh37.p13 (GCF_000001405.25) 1 NC_000001.10 (113051929..113052223)

Chromosome 1 - NC_000001.11Genomic Context describing neighboring genes Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 1195 Neighboring gene CTTNBP2 N-terminal like Neighboring gene NANOG-H3K27ac-H3K4me1 hESC enhancer GRCh37_chr1:112947097-112947622 Neighboring gene ReSE screen-validated silencer GRCh37_chr1:112950375-112950562 Neighboring gene Sharpr-MPRA regulatory region 6417 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 1512 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 1513 Neighboring gene MPRA-validated peak369 silencer Neighboring gene microRNA 4256 Neighboring gene Wnt family member 2B Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 1196 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr1:113050855-113051398 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 1198 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 1199 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 1200 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr1:113052323-113052822 Neighboring gene suppression of tumorigenicity 7 like Neighboring gene MPRA-validated peak370 silencer Neighboring gene ATAC-STARR-seq lymphoblastoid active region 1514 Neighboring gene MED14-independent group 3 enhancer GRCh37_chr1:113161935-113163134 Neighboring gene mitochondrial ribosomal protein L53 pseudogene 1 Neighboring gene capping actin protein of muscle Z-line subunit alpha 1

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_076413.1 

    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_000001.11 Reference GRCh38.p14 Primary Assembly

    Range
    112509307..112509601
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

Alternate T2T-CHM13v2.0

Genomic

  1. NC_060925.1 Alternate T2T-CHM13v2.0

    Range
    112521876..112522170
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)
Nucleotide Protein
Heading Accession and Version

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