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LOC120893129 Sharpr-MPRA regulatory region 12145 [ Homo sapiens (human) ]

Gene ID: 120893129, updated on 10-Oct-2023

Summary

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Gene symbol
LOC120893129
Gene description
Sharpr-MPRA regulatory region 12145
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 K562 erythroleukemia cells (group: K562 Activating DNase matched - State 5:Enh, candidate strong enhancer, open chromatin). [provided by RefSeq, Mar 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 (35499828..35500122)
RS_2023_10 current T2T-CHM13v2.0 (GCF_009914755.1) 1 NC_060925.1 (35362880..35363174)
105.20220307 previous assembly GRCh37.p13 (GCF_000001405.25) 1 NC_000001.10 (35965429..35965723)

Chromosome 1 - NC_000001.11Genomic Context describing neighboring genes Neighboring gene zinc finger MYM-type containing 4 Neighboring gene NANOG hESC enhancer GRCh37_chr1:35827234-35827735 Neighboring gene ZMYM4 antisense RNA 1 Neighboring gene MPRA-validated peak172 silencer Neighboring gene OCT4-NANOG-H3K27ac hESC enhancer GRCh37_chr1:35855531-35856150 Neighboring gene OCT4-NANOG-H3K27ac hESC enhancer GRCh37_chr1:35856151-35856768 Neighboring gene KIAA0319 like Neighboring gene ReSE screen-validated silencer GRCh37_chr1:35916701-35916880 Neighboring gene RNY5 pseudogene 1 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 728 Neighboring gene ReSE screen-validated silencer GRCh37_chr1:35931229-35931375 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 729 Neighboring gene zinc finger protein 485 pseudogene Neighboring gene H3K27ac hESC enhancer GRCh37_chr1:35996497-35996998 Neighboring gene H3K27ac hESC enhancer GRCh37_chr1:35996999-35997498 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 730 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 731 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 640 Neighboring gene H3K27ac hESC enhancer GRCh37_chr1:36019721-36020677 Neighboring gene H3K27ac hESC enhancer GRCh37_chr1:36020678-36021633 Neighboring gene NANOG-H3K27ac-H3K4me1 hESC enhancer GRCh37_chr1:36022434-36023161 Neighboring gene NANOG-H3K27ac-H3K4me1 hESC enhancer GRCh37_chr1:36023162-36023888 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 643 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr1:36024616-36025341 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr1:36025798-36026432 Neighboring gene neurochondrin

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_073888.1 

    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
    35499828..35500122
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    GenBank, FASTA, Sequence Viewer (Graphics)

Alternate T2T-CHM13v2.0

Genomic

  1. NC_060925.1 Alternate T2T-CHM13v2.0

    Range
    35362880..35363174
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)
Nucleotide Protein
Heading Accession and Version

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