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LOC124416919 Sharpr-MPRA regulatory region 1472 [ Homo sapiens (human) ]

Gene ID: 124416919, updated on 10-Oct-2023

Summary

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Gene symbol
LOC124416919
Gene description
Sharpr-MPRA regulatory region 1472
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 23:Low, low signal proximal to active elements) and K562 erythroleukemia cells (group: K562 Repressive non-DNase unmatched - State 23:Low). [provided by RefSeq, Feb 2022]
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Genomic context

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See LOC124416919 in Genome Data Viewer
Location:
10q
Annotation release Status Assembly Chr Location
RS_2023_10 current GRCh38.p14 (GCF_000001405.40) 10 NC_000010.11 (119748057..119748351)
RS_2023_10 current T2T-CHM13v2.0 (GCF_009914755.1) 10 NC_060934.1 (120645622..120645916)
105.20220307 previous assembly GRCh37.p13 (GCF_000001405.25) 10 NC_000010.10 (121507569..121507863)

Chromosome 10 - NC_000010.11Genomic Context describing neighboring genes Neighboring gene uncharacterized LOC124902513 Neighboring gene ReSE screen-validated silencer GRCh37_chr10:121443219-121443398 Neighboring gene OCT4-NANOG-H3K27ac hESC enhancer GRCh37_chr10:121446148-121447084 Neighboring gene OCT4-NANOG-H3K27ac-H3K4me1 hESC enhancer GRCh37_chr10:121447085-121448021 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr10:121451095-121451594 Neighboring gene thioredoxin pseudogene 1 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 4129 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 4130 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 4131 Neighboring gene ReSE screen-validated silencer GRCh37_chr10:121471328-121471517 Neighboring gene H3K27ac hESC enhancer GRCh37_chr10:121480870-121481758 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 4132 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 2881 Neighboring gene H3K27ac hESC enhancer GRCh37_chr10:121492744-121493244 Neighboring gene H3K27ac hESC enhancer GRCh37_chr10:121497641-121498186 Neighboring gene inositol polyphosphate-5-phosphatase F Neighboring gene H3K27ac hESC enhancer GRCh37_chr10:121498187-121498732 Neighboring gene RNA, 7SL, cytoplasmic 846, pseudogene Neighboring gene Sharpr-MPRA regulatory region 8600 Neighboring gene uncharacterized LOC105378513 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 2882 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 2883 Neighboring gene Neanderthal introgressed variant-containing enhancer experimental_10180 Neighboring gene Neanderthal introgressed variant-containing enhancer experimental_10184 Neighboring gene ReSE screen-validated silencer GRCh37_chr10:121575109-121575271 Neighboring gene phosphatase and actin regulator 2 pseudogene 1

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_079135.1 

    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_000010.11 Reference GRCh38.p14 Primary Assembly

    Range
    119748057..119748351
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    GenBank, FASTA, Sequence Viewer (Graphics)

Alternate T2T-CHM13v2.0

Genomic

  1. NC_060934.1 Alternate T2T-CHM13v2.0

    Range
    120645622..120645916
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)
Nucleotide Protein
Heading Accession and Version

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