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LOC114022702 Sharpr-MPRA regulatory region 15403 [ Homo sapiens (human) ]

Gene ID: 114022702, updated on 10-Oct-2023

Summary

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Gene symbol
LOC114022702
Gene description
Sharpr-MPRA regulatory region 15403
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 9:DNaseU, primarily UW DNase, weaker open chromatin sites) and K562 erythroleukemia cells (group: K562 Repressive non-DNase unmatched - State 24:Quies, heterochromatin/dead zone). [provided by RefSeq, Jan 2019]
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Genomic context

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Location:
9p
Annotation release Status Assembly Chr Location
RS_2023_10 current GRCh38.p14 (GCF_000001405.40) 9 NC_000009.12 (22010970..22011264)
RS_2023_10 current T2T-CHM13v2.0 (GCF_009914755.1) 9 NC_060933.1 (22025347..22025641)
105.20220307 previous assembly GRCh37.p13 (GCF_000001405.25) 9 NC_000009.11 (22010969..22011263)

Chromosome 9 - NC_000009.12Genomic Context describing neighboring genes Neighboring gene uncharacterized LOC124902130 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr9:21989455-21990037 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 19813 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 19814 Neighboring gene CDKN2B antisense RNA 1 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 19815 Neighboring gene cyclin dependent kinase inhibitor 2A Neighboring gene MED14-independent group 3 enhancer GRCh37_chr9:22026023-22027222 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 28245 Neighboring gene cyclin dependent kinase inhibitor 2B Neighboring gene ubiquitin A-52 residue ribosomal protein fusion product 1 pseudogene 6 Neighboring gene melanoma risk locus-associated MPRA allelic enhancer 9:22068931 Neighboring gene BRD4-independent group 4 enhancer GRCh37_chr9:22102887-22104086 Neighboring gene CDK7 strongly-dependent group 2 enhancer GRCh37_chr9:22117311-22118510 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 28246 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr9:22363678-22364189 Neighboring gene H3K27ac hESC enhancer GRCh37_chr9:22446999-22447498 Neighboring gene DMRT like family A1

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_063919.1 

    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_000009.12 Reference GRCh38.p14 Primary Assembly

    Range
    22010970..22011264
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    GenBank, FASTA, Sequence Viewer (Graphics)

Alternate T2T-CHM13v2.0

Genomic

  1. NC_060933.1 Alternate T2T-CHM13v2.0

    Range
    22025347..22025641
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)
Nucleotide Protein
Heading Accession and Version

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