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LOC125146424 Sharpr-MPRA regulatory region 10772 [ Homo sapiens (human) ]

Gene ID: 125146424, updated on 10-Oct-2023

Summary

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Gene symbol
LOC125146424
Gene description
Sharpr-MPRA regulatory region 10772
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 K562 erythroleukemia cells (group: K562 Repressive non-DNase unmatched - State 9:DNaseU, primarily UW DNase, weaker open chromatin sites). [provided by RefSeq, Apr 2022]
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Genomic context

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See LOC125146424 in Genome Data Viewer
Location:
16p
Annotation release Status Assembly Chr Location
RS_2023_10 current GRCh38.p14 (GCF_000001405.40) 16 NC_000016.10 (21296068..21296362)
RS_2023_10 current T2T-CHM13v2.0 (GCF_009914755.1) 16 NC_060940.1 (21231360..21231654)

Chromosome 16 - NC_000016.10Genomic Context describing neighboring genes Neighboring gene ankyrin repeat and sterile alpha motif domain containing 4B Neighboring gene ATAC-STARR-seq lymphoblastoid active region 10552 Neighboring gene crystallin mu Neighboring gene ATAC-STARR-seq lymphoblastoid active region 10553 Neighboring gene uncharacterized LOC105371125 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 7250 Neighboring gene OCT4-NANOG hESC enhancer GRCh37_chr16:21313709-21314297 Neighboring gene CRYM antisense RNA 1 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr16:21358615-21359174 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr16:21360327-21361134 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr16:21361135-21361940 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr16:21365500-21366000 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr16:21370782-21371421 Neighboring gene sorting nexin 29 pseudogene 1 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr16:21371422-21372060 Neighboring gene H3K27ac hESC enhancer GRCh37_chr16:21391363-21391864

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

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_080349.1 

    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_000016.10 Reference GRCh38.p14 Primary Assembly

    Range
    21296068..21296362
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    GenBank, FASTA, Sequence Viewer (Graphics)

Reference GRCh38.p14 PATCHES

Genomic

  1. NW_017852933.1 Reference GRCh38.p14 PATCHES

    Range
    119759..120053
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    GenBank, FASTA, Sequence Viewer (Graphics)

Alternate T2T-CHM13v2.0

Genomic

  1. NC_060940.1 Alternate T2T-CHM13v2.0

    Range
    21231360..21231654
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)
Nucleotide Protein
Heading Accession and Version

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