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LOC124629353 Sharpr-MPRA regulatory region 9693 [ Homo sapiens (human) ]

Gene ID: 124629353, updated on 10-Oct-2023

Summary

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Gene symbol
LOC124629353
Gene description
Sharpr-MPRA regulatory region 9693
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 14:Gen5', transcription transition, highly expressed genes towards 5' end). [provided by RefSeq, Mar 2022]
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Genomic context

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See LOC124629353 in Genome Data Viewer
Location:
12q
Annotation release Status Assembly Chr Location
RS_2023_10 current GRCh38.p14 (GCF_000001405.40) 12 NC_000012.12 (49273986..49274280)
RS_2023_10 current T2T-CHM13v2.0 (GCF_009914755.1) 12 NC_060936.1 (49236177..49236471)

Chromosome 12 - NC_000012.12Genomic Context describing neighboring genes Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 4425 Neighboring gene TUBA1B antisense RNA 1 Neighboring gene ReSE screen-validated silencer GRCh37_chr12:49564043-49564236 Neighboring gene ReSE screen-validated silencer GRCh37_chr12:49567207-49567412 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr12:49578576-49579076 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr12:49579077-49579577 Neighboring gene H3K27ac hESC enhancer GRCh37_chr12:49582542-49583133 Neighboring gene tubulin alpha 1a Neighboring gene ReSE screen-validated silencer GRCh37_chr12:49617048-49617282 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 4426 Neighboring gene tubulin alpha 1c Neighboring gene H3K27ac hESC enhancer GRCh37_chr12:49650243-49650960 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 4427 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 4428 Neighboring gene ReSE screen-validated silencer GRCh37_chr12:49659281-49659494 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 6310 Neighboring gene H3K27ac hESC enhancer GRCh37_chr12:49672666-49673257 Neighboring gene Sharpr-MPRA regulatory region 11054 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr12:49686422-49687185 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr12:49687186-49687948 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr12:49688028-49688945 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr12:49688946-49689862 Neighboring gene Sharpr-MPRA regulatory region 11953 Neighboring gene TROAP and PRPH antisense RNA 1 Neighboring gene peripherin Neighboring gene ATAC-STARR-seq lymphoblastoid active region 6312 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 6313 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr12:49724253-49724754 Neighboring gene trophinin associated protein

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_079723.1 

    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_000012.12 Reference GRCh38.p14 Primary Assembly

    Range
    49273986..49274280
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

Alternate T2T-CHM13v2.0

Genomic

  1. NC_060936.1 Alternate T2T-CHM13v2.0

    Range
    49236177..49236471
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)
Nucleotide Protein
Heading Accession and Version

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