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LOC122757945 Sharpr-MPRA regulatory region 7699 [ Homo sapiens (human) ]

Gene ID: 122757945, updated on 12-Sep-2024

Summary

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Gene symbol
LOC122757945
Gene description
Sharpr-MPRA regulatory region 7699
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 15:Elon, transcription elongation, stronger H3K36me3, more exonic) and K562 erythroleukemia cells (group: K562 Repressive non-DNase unmatched - State 14:Gen5', transcription transition, highly expressed genes towards 5' end). [provided by RefSeq, Sep 2021]
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Genomic context

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See LOC122757945 in Genome Data Viewer
Location:
2p
Annotation release Status Assembly Chr Location
RS_2024_08 current GRCh38.p14 (GCF_000001405.40) 2 NC_000002.12 (55294533..55294827)
RS_2024_08 current T2T-CHM13v2.0 (GCF_009914755.1) 2 NC_060926.1 (55291728..55292022)
RS_2024_09 previous assembly GRCh37.p13 (GCF_000001405.25) 2 NC_000002.11 (55521669..55521963)

Chromosome 2 - NC_000002.12Genomic Context describing neighboring genes Neighboring gene mitochondrial translational initiation factor 2 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr2:55496405-55497228 Neighboring gene Sharpr-MPRA regulatory regions 8685 and 822 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr2:55508487-55509380 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr2:55509381-55510272 Neighboring gene H3K27ac hESC enhancer GRCh37_chr2:55516372-55516872 Neighboring gene H3K27ac hESC enhancer GRCh37_chr2:55516873-55517373 Neighboring gene prolyl-tRNA synthetase associated domain containing 1, pseudogene Neighboring gene coiled-coil domain containing 88A Neighboring gene ATAC-STARR-seq lymphoblastoid active region 15780 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr2:55530138-55530638 Neighboring gene uncharacterized LOC124907768 Neighboring gene OCT4-NANOG hESC enhancer GRCh37_chr2:55635985-55636565 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 11497 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 11498 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 11499 Neighboring gene basic transcription factor 3 pseudogene 5

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_076937.1 

    Range
    101..395
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

RefSeqs of Annotated Genomes: GCF_000001405.40-RS_2024_08

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
    55294533..55294827
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

Alternate T2T-CHM13v2.0

Genomic

  1. NC_060926.1 Alternate T2T-CHM13v2.0

    Range
    55291728..55292022
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)
Nucleotide Protein
Heading Accession and Version

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