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LOC124646393 Sharpr-MPRA regulatory region 5029 [ Homo sapiens (human) ]

Gene ID: 124646393, updated on 10-Oct-2023

Summary

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Gene symbol
LOC124646393
Gene description
Sharpr-MPRA regulatory region 5029
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 23:Low, low signal proximal to active elements) and K562 erythroleukemia cells (group: K562 Repressive DNase matched - State 8:EnhW, candidate weak enhancer and open chromatin). [provided by RefSeq, Mar 2022]
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Genomic context

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Location:
12q
Annotation release Status Assembly Chr Location
RS_2023_10 current GRCh38.p14 (GCF_000001405.40) 12 NC_000012.12 (104282071..104282365)
RS_2023_10 current T2T-CHM13v2.0 (GCF_009914755.1) 12 NC_060936.1 (104243767..104244061)

Chromosome 12 - NC_000012.12Genomic Context describing neighboring genes Neighboring gene Neanderthal introgressed variant-containing enhancer experimental_23757 Neighboring gene long intergenic non-protein coding RNA 2385 Neighboring gene Sharpr-MPRA regulatory region 15351 Neighboring gene Neanderthal introgressed variant-containing enhancer experimental_23771 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr12:104609333-104609949 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr12:104609950-104610565 Neighboring gene NFE2L2 motif-containing MPRA enhancer 194 Neighboring gene Neanderthal introgressed variant-containing enhancer experimental_23775 Neighboring gene Neanderthal introgressed variant-containing enhancer experimental_23777 Neighboring gene ReSE screen-validated silencer GRCh37_chr12:104628245-104628471 Neighboring gene thioredoxin reductase 1 Neighboring gene Neanderthal introgressed variant-containing enhancer experimental_23786 Neighboring gene Neanderthal introgressed variant-containing enhancer experimental_23788 Neighboring gene Neanderthal introgressed variant-containing enhancer experimental_23792 Neighboring gene Neanderthal introgressed variant-containing enhancer experimental_23801 Neighboring gene uncharacterized LOC124903002 Neighboring gene Neanderthal introgressed variant-containing enhancer experimental_23817 Neighboring gene CDK7 strongly-dependent group 2 enhancer GRCh37_chr12:104665873-104667072 Neighboring gene Neanderthal introgressed variant-containing enhancer experimental_23822 Neighboring gene Neanderthal introgressed variant-containing enhancer experimental_23828 Neighboring gene ribosomal protein L18a pseudogene 3 Neighboring gene P300/CBP strongly-dependent group 1 enhancer GRCh37_chr12:104680011-104681210 Neighboring gene H3K27ac hESC enhancer GRCh37_chr12:104681597-104682144 Neighboring gene H3K27ac hESC enhancer GRCh37_chr12:104682145-104682690 Neighboring gene Neanderthal introgressed variant-containing enhancer experimental_23836 Neighboring gene Neanderthal introgressed variant-containing enhancer experimental_23840 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr12:104697445-104698317 Neighboring gene EP300 interacting inhibitor of differentiation 3 Neighboring gene Neanderthal introgressed variant-containing enhancer experimental_23854 Neighboring gene ReSE screen-validated silencer GRCh37_chr12:104736854-104737098 Neighboring gene Neanderthal introgressed variant-containing enhancer experimental_23864 Neighboring gene Sharpr-MPRA regulatory region 7710 Neighboring gene NANOG-H3K27ac-H3K4me1 hESC enhancer GRCh37_chr12:104761070-104761775 Neighboring gene NANOG-H3K27ac-H3K4me1 hESC enhancer GRCh37_chr12:104765060-104765816 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr12:104765817-104766574 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr12:104766575-104767330 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr12:104768893-104769404 Neighboring gene uncharacterized LOC105369949 Neighboring gene MPRA-validated peak1927 silencer

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

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_079801.1 

    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_000012.12 Reference GRCh38.p14 Primary Assembly

    Range
    104282071..104282365
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    GenBank, FASTA, Sequence Viewer (Graphics)

Alternate T2T-CHM13v2.0

Genomic

  1. NC_060936.1 Alternate T2T-CHM13v2.0

    Range
    104243767..104244061
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)
Nucleotide Protein
Heading Accession and Version

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