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LOC122889012 Sharpr-MPRA regulatory region 758 [ Homo sapiens (human) ]

Gene ID: 122889012, updated on 10-Oct-2023

Summary

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Gene symbol
LOC122889012
Gene description
Sharpr-MPRA regulatory region 758
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 HepG2 liver carcinoma cells (group: HepG2 Repressive non-DNase unmatched - State 22:ReprW, weaker Polycomb repression). [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 (237490286..237490580)
RS_2023_10 current T2T-CHM13v2.0 (GCF_009914755.1) 2 NC_060926.1 (237981325..237981619)
105.20220307 previous assembly GRCh37.p13 (GCF_000001405.25) 2 NC_000002.11 (238398929..238399223)

Chromosome 2 - NC_000002.12Genomic Context describing neighboring genes Neighboring gene CDK7 strongly-dependent group 2 enhancer GRCh37_chr2:238233151-238234350 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr2:238242415-238242916 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr2:238244426-238244926 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr2:238244927-238245427 Neighboring gene collagen type VI alpha 3 chain Neighboring gene Sharpr-MPRA regulatory region 1020 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr2:238275487-238275986 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr2:238341552-238342058 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr2:238354812-238355347 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr2:238356546-238357046 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr2:238357047-238357547 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr2:238359577-238360252 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr2:238360253-238360930 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 17366 Neighboring gene MED14-independent group 3 enhancer GRCh37_chr2:238368147-238369346 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 12477 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 12478 Neighboring gene uncharacterized LOC105373957 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr2:238394761-238395729 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr2:238406043-238406543 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr2:238419044-238419544 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr2:238419545-238420045 Neighboring gene melanophilin Neighboring gene H3K4me1 hESC enhancer GRCh37_chr2:238421426-238421926 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr2:238421927-238422427 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr2:238428025-238428526 Neighboring gene microRNA 6811 Neighboring gene MT-ND5 pseudogene 46

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_077144.1 

    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
    237490286..237490580
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

Alternate T2T-CHM13v2.0

Genomic

  1. NC_060926.1 Alternate T2T-CHM13v2.0

    Range
    237981325..237981619
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)
Nucleotide Protein
Heading Accession and Version

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