U.S. flag

An official website of the United States government

Format

Send to:

Choose Destination

LOC124946346 Sharpr-MPRA regulatory region 10007 [ Homo sapiens (human) ]

Gene ID: 124946346, updated on 10-Oct-2023

Summary

Go to the top of the page Help
Gene symbol
LOC124946346
Gene description
Sharpr-MPRA regulatory region 10007
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 20:ReprD, Polycomb repression w. Duke DNase/promoter and conservation enriched). [provided by RefSeq, Apr 2022]
NEW
Try the new Gene table
Try the new Transcript table

Genomic context

Go to the top of the page Help
See LOC124946346 in Genome Data Viewer
Location:
13q
Annotation release Status Assembly Chr Location
RS_2023_10 current GRCh38.p14 (GCF_000001405.40) 13 NC_000013.11 (113398034..113398328)
RS_2023_10 current T2T-CHM13v2.0 (GCF_009914755.1) 13 NC_060937.1 (112654127..112654421)

Chromosome 13 - NC_000013.11Genomic Context describing neighboring genes Neighboring gene growth hormone regulated TBC protein 1 Neighboring gene GRTP1 antisense RNA 1 Neighboring gene Sharpr-MPRA regulatory region 43 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr13:114019311-114020004 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr13:114020005-114020698 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr13:114021393-114022086 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr13:114027480-114028460 Neighboring gene uncharacterized LOC124903218 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr13:114032969-114033953 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr13:114047778-114048319 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 5546 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr13:114059695-114060489 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr13:114061607-114062292 Neighboring gene P300/CBP strongly-dependent group 1 enhancer GRCh37_chr13:114064726-114065925 Neighboring gene ADP-ribosylhydrolase like 1 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr13:114071164-114072164 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr13:114072165-114073165 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr13:114075358-114076070 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr13:114076783-114077494 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr13:114080191-114080738 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr13:114085068-114085648 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr13:114100205-114101146 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 8038 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr13:114105835-114106336 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr13:114110333-114111263 Neighboring gene defective in cullin neddylation 1 domain containing 2 Neighboring gene RNA, U1 small nuclear 16, pseudogene

Genomic regions, transcripts, and products

Go to the top of the page Help

Go to nucleotide: Graphics FASTA GenBank

Bibliography

Go to the top of the pageHelp

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

Go to the top of the page Help

Review eQTL and phenotype association data in this region using PheGenI

Variation

Go to the top of the page Help

See variants in ClinVar

NCBI Reference Sequences (RefSeq)

Go to the top of the page Help

NEW Try the new Transcript table

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_080052.1 

    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_000013.11 Reference GRCh38.p14 Primary Assembly

    Range
    113398034..113398328
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

Alternate T2T-CHM13v2.0

Genomic

  1. NC_060937.1 Alternate T2T-CHM13v2.0

    Range
    112654127..112654421
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)
Nucleotide Protein
Heading Accession and Version

Gene LinkOut

The following LinkOut resources are supplied by external providers. These providers are responsible for maintaining the links.

Molecular Biology Databases