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LOC122847320 Sharpr-MPRA regulatory region 7042 [ Homo sapiens (human) ]

Gene ID: 122847320, updated on 10-Oct-2023

Summary

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Gene symbol
LOC122847320
Gene description
Sharpr-MPRA regulatory region 7042
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 23:Low, low signal proximal to active elements). [provided by RefSeq, Oct 2021]
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Genomic context

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Location:
2q
Annotation release Status Assembly Chr Location
RS_2023_10 current GRCh38.p14 (GCF_000001405.40) 2 NC_000002.12 (172673081..172673375)
RS_2023_10 current T2T-CHM13v2.0 (GCF_009914755.1) 2 NC_060926.1 (173159555..173159849)
105.20220307 previous assembly GRCh37.p13 (GCF_000001405.25) 2 NC_000002.11 (173537809..173538103)

Chromosome 2 - NC_000002.12Genomic Context describing neighboring genes Neighboring gene Neanderthal introgressed variant-containing enhancer experimental_56026 Neighboring gene integrin subunit alpha 6 Neighboring gene ITGA6 antisense RNA 1 Neighboring gene Neanderthal introgressed variant-containing enhancer experimental_56072 Neighboring gene PDK1 and ITGA6 antisense RNA 1 Neighboring gene Sharpr-MPRA regulatory region 994 Neighboring gene H3K27ac hESC enhancer GRCh37_chr2:173399678-173400178 Neighboring gene NANOG-H3K27ac hESC enhancer GRCh37_chr2:173413559-173414301 Neighboring gene NANOG-H3K27ac hESC enhancer GRCh37_chr2:173414302-173415043 Neighboring gene Sharpr-MPRA regulatory region 4236 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 16763 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 12111 Neighboring gene ReSE screen-validated silencer GRCh37_chr2:173456666-173456873 Neighboring gene pyruvate dehydrogenase kinase 1 Neighboring gene Neanderthal introgressed variant-containing enhancer experimental_56189 Neighboring gene Neanderthal introgressed variant-containing enhancer experimental_56221 Neighboring gene Neanderthal introgressed variant-containing enhancer experimental_56231 Neighboring gene small nucleolar RNA U13 Neighboring gene Neanderthal introgressed variant-containing enhancer experimental_56260 Neighboring gene Neanderthal introgressed variant-containing enhancer experimental_56279 Neighboring gene Neanderthal introgressed variant-containing enhancer experimental_56293 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr2:173577807-173578364 Neighboring gene H3K27ac hESC enhancer GRCh37_chr2:173590766-173591266 Neighboring gene H3K27ac hESC enhancer GRCh37_chr2:173591267-173591767 Neighboring gene RAPGEF4 antisense RNA 1 Neighboring gene Rap guanine nucleotide exchange factor 4

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_077055.1 

    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_000002.12 Reference GRCh38.p14 Primary Assembly

    Range
    172673081..172673375
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

Alternate T2T-CHM13v2.0

Genomic

  1. NC_060926.1 Alternate T2T-CHM13v2.0

    Range
    173159555..173159849
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)
Nucleotide Protein
Heading Accession and Version

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