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LOC124310667 Sharpr-MPRA regulatory region 5428 [ Homo sapiens (human) ]

Gene ID: 124310667, updated on 10-Oct-2023

Summary

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Gene symbol
LOC124310667
Gene description
Sharpr-MPRA regulatory region 5428
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 13:Ctcf, distal CTCF/candidate insulator without open chromatin) and K562 erythroleukemia cells (group: K562 Repressive DNase matched - State 12:CtcfO, distal CTCF/candidate insulator with open chromatin). [provided by RefSeq, Feb 2022]
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Genomic context

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Location:
9q
Annotation release Status Assembly Chr Location
RS_2023_10 current GRCh38.p14 (GCF_000001405.40) 9 NC_000009.12 (130216710..130217004)
RS_2023_10 current T2T-CHM13v2.0 (GCF_009914755.1) 9 NC_060933.1 (142421476..142421770)
105.20220307 previous assembly GRCh37.p13 (GCF_000001405.25) 9 NC_000009.11 (132978989..132979283)

Chromosome 9 - NC_000009.12Genomic Context describing neighboring genes Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 20398 Neighboring gene G protein-coupled receptor 107 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr9:132878169-132878714 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr9:132881191-132882139 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 20399 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 29149 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr9:132904135-132904908 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr9:132905683-132906456 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr9:132913067-132913905 Neighboring gene ReSE screen-validated silencer GRCh37_chr9:132928978-132929181 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr9:132933797-132934585 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 20400 Neighboring gene GPR107 adjacent cis regulating lncRNA Neighboring gene H3K4me1 hESC enhancer GRCh37_chr9:132936047-132936957 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr9:132947945-132948786 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr9:132948787-132949629 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr9:132949630-132950471 Neighboring gene ReSE screen-validated silencer GRCh37_chr9:132951645-132951994 Neighboring gene H3K27ac hESC enhancer GRCh37_chr9:132959499-132960000 Neighboring gene H3K27ac hESC enhancer GRCh37_chr9:132960001-132960500 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr9:132971269-132971960 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr9:132972653-132973344 Neighboring gene ReSE screen-validated silencer GRCh37_chr9:132976749-132976936 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr9:132977599-132978255 Neighboring gene neuronal calcium sensor 1 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr9:132981410-132982372 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr9:132999231-132999790 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 29150 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 29151 Neighboring gene Sharpr-MPRA regulatory region 4503 Neighboring gene OCT4-NANOG hESC enhancer GRCh37_chr9:133021088-133021842 Neighboring gene uncharacterized LOC124902285 Neighboring gene microRNA 12126 Neighboring gene hemicentin 2

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_078948.1 

    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
    130216710..130217004
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

Alternate T2T-CHM13v2.0

Genomic

  1. NC_060933.1 Alternate T2T-CHM13v2.0

    Range
    142421476..142421770
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)
Nucleotide Protein
Heading Accession and Version

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