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LOC124629355 Sharpr-MPRA regulatory region 14813 [ Homo sapiens (human) ]

Gene ID: 124629355, updated on 10-Oct-2023

Summary

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Gene symbol
LOC124629355
Gene description
Sharpr-MPRA regulatory region 14813
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 8:EnhW, candidate weak enhancer and open chromatin). [provided by RefSeq, Mar 2022]
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Genomic context

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See LOC124629355 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 (49428846..49429140)
RS_2023_10 current T2T-CHM13v2.0 (GCF_009914755.1) 12 NC_060936.1 (49391068..49391362)

Chromosome 12 - NC_000012.12Genomic Context describing neighboring genes Neighboring gene H3K4me1 hESC enhancer GRCh37_chr12:49741370-49742313 Neighboring gene DnaJ heat shock protein family (Hsp40) member C22 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 6314 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 4435 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 4436 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 4437 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 6315 Neighboring gene spermatogenesis associated serine rich 2 Neighboring gene FGFR1 oncogene partner 2 pseudogene Neighboring gene H3K4me1 hESC enhancer GRCh37_chr12:49846952-49847452 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr12:49873095-49873682 Neighboring gene ReSE screen-validated silencer GRCh37_chr12:49907610-49907788 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 4438 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr12:49932121-49932932 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr12:49932933-49933742 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 6316 Neighboring gene BRD4-independent group 4 enhancer GRCh37_chr12:49936243-49937442 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr12:49941330-49942138 Neighboring gene uncharacterized LOC105369761 Neighboring gene potassium voltage-gated channel subfamily H member 3 Neighboring gene H3K27ac hESC enhancer GRCh37_chr12:49961221-49962024 Neighboring gene microspherule protein 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

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_079725.1 

    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
    49428846..49429140
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

Alternate T2T-CHM13v2.0

Genomic

  1. NC_060936.1 Alternate T2T-CHM13v2.0

    Range
    49391068..49391362
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)
Nucleotide Protein
Heading Accession and Version

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