U.S. flag

An official website of the United States government

Format

Send to:

Choose Destination

LOC124629331 Sharpr-MPRA regulatory region 9485 [ Homo sapiens (human) ]

Gene ID: 124629331, updated on 10-Oct-2023

Summary

Go to the top of the page Help
Gene symbol
LOC124629331
Gene description
Sharpr-MPRA regulatory region 9485
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 13:Ctcf, distal CTCF/candidate insulator without open chromatin) and K562 erythroleukemia cells (group: K562 Repressive non-DNase unmatched - State 13:Ctcf). [provided by RefSeq, Mar 2022]
NEW
Try the new Gene table
Try the new Transcript table

Genomic context

Go to the top of the page Help
Location:
12p
Annotation release Status Assembly Chr Location
RS_2023_10 current GRCh38.p14 (GCF_000001405.40) 12 NC_000012.12 (23221115..23221409)
RS_2023_10 current T2T-CHM13v2.0 (GCF_009914755.1) 12 NC_060936.1 (23092681..23092975)

Chromosome 12 - NC_000012.12Genomic Context describing neighboring genes Neighboring gene ATAC-STARR-seq lymphoblastoid active region 6100 Neighboring gene NANOG-H3K27ac hESC enhancer GRCh37_chr12:22778539-22779228 Neighboring gene OCT4-NANOG hESC enhancer GRCh37_chr12:22852449-22852990 Neighboring gene long intergenic non-protein coding RNA 2955 Neighboring gene MPRA-validated peak1602 silencer Neighboring gene ethanolamine kinase 1 Neighboring gene ribosomal protein S27 pseudogene 22 Neighboring gene MPRA-validated peak1603 silencer Neighboring gene OCT4-NANOG hESC enhancer GRCh37_chr12:23178329-23179078 Neighboring gene VISTA enhancer hs1603 Neighboring gene MPRA-validated peak1605 silencer Neighboring gene H3K4me1 hESC enhancer GRCh37_chr12:23627288-23627862 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr12:23627863-23628437 Neighboring gene ReSE screen-validated silencer GRCh37_chr12:23662216-23662400 Neighboring gene Neanderthal introgressed variant-containing enhancer experimental_26611 Neighboring gene NANOG hESC enhancer GRCh37_chr12:23695058-23695588 Neighboring gene OCT4-NANOG hESC enhancer GRCh37_chr12:23738604-23739190 Neighboring gene uncharacterized LOC105369697 Neighboring gene Sharpr-MPRA regulatory region 8728 Neighboring gene OCT4-NANOG hESC enhancer GRCh37_chr12:23793632-23794207 Neighboring gene SRY-box transcription factor 5 Neighboring gene NANOG hESC enhancer GRCh37_chr12:23909365-23909887 Neighboring gene MPRA-validated peak1610 silencer Neighboring gene MPRA-validated peak1611 silencer Neighboring gene MPRA-validated peak1613 silencer Neighboring gene Sharpr-MPRA regulatory region 3652 Neighboring gene Sharpr-MPRA regulatory region 12792 Neighboring gene VISTA enhancer hs895 Neighboring gene MPRA-validated peak1614 silencer Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 4290 Neighboring gene microRNA 920

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_079610.1 

    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
    23221115..23221409
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

Alternate T2T-CHM13v2.0

Genomic

  1. NC_060936.1 Alternate T2T-CHM13v2.0

    Range
    23092681..23092975
    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