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LOC122056817 Sharpr-MPRA regulatory region 9156 [ Homo sapiens (human) ]

Gene ID: 122056817, updated on 12-Sep-2024

Summary

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Gene symbol
LOC122056817
Gene description
Sharpr-MPRA regulatory region 9156
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 16:ElonW, transcriptional elongation, weaker H3K36me3). [provided by RefSeq, Jul 2021]
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Genomic context

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See LOC122056817 in Genome Data Viewer
Location:
1p
Annotation release Status Assembly Chr Location
RS_2024_08 current GRCh38.p14 (GCF_000001405.40) 1 NC_000001.11 (29003557..29003851)
RS_2024_08 current T2T-CHM13v2.0 (GCF_009914755.1) 1 NC_060925.1 (28845844..28846138)
RS_2024_09 previous assembly GRCh37.p13 (GCF_000001405.25) 1 NC_000001.10 (29330069..29330363)

Chromosome 1 - NC_000001.11Genomic Context describing neighboring genes Neighboring gene erythrocyte membrane protein band 4.1 Neighboring gene uncharacterized LOC124903886 Neighboring gene NANOG-H3K27ac hESC enhancer GRCh37_chr1:29292005-29292535 Neighboring gene H3K27ac hESC enhancer GRCh37_chr1:29292536-29293065 Neighboring gene MPRA-validated peak137 silencer Neighboring gene ribosomal protein L27 pseudogene 4 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 552 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr1:29449829-29450688 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr1:29450689-29451548 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr1:29451549-29452408 Neighboring gene transmembrane protein 200B Neighboring gene H3K27ac hESC enhancer GRCh37_chr1:29482895-29483396 Neighboring gene OCT4-NANOG-H3K27ac-H3K4me1 hESC enhancer GRCh37_chr1:29490994-29491614 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr1:29504446-29504946 Neighboring gene serine and arginine rich splicing factor 4 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 553 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 554 Neighboring gene mitochondrial trans-2-enoyl-CoA reductase

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_076273.1 

    Range
    101..395
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    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_000001.11 Reference GRCh38.p14 Primary Assembly

    Range
    29003557..29003851
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

Alternate T2T-CHM13v2.0

Genomic

  1. NC_060925.1 Alternate T2T-CHM13v2.0

    Range
    28845844..28846138
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)
Nucleotide Protein
Heading Accession and Version

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