U.S. flag

An official website of the United States government

Format

Send to:

Choose Destination

LOC124629349 Sharpr-MPRA regulatory region 4091 [ Homo sapiens (human) ]

Gene ID: 124629349, updated on 10-Oct-2023

Summary

Go to the top of the page Help
Gene symbol
LOC124629349
Gene description
Sharpr-MPRA regulatory region 4091
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 DNase matched - State 4:PromP, inactive/poised promoter, highly conserved). [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
See LOC124629349 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 (48971506..48971800)
RS_2023_10 current T2T-CHM13v2.0 (GCF_009914755.1) 12 NC_060936.1 (48933707..48934001)

Chromosome 12 - NC_000012.12Genomic Context describing neighboring genes Neighboring gene FKBP prolyl isomerase 11 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 4415 Neighboring gene ADP ribosylation factor 3 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr12:49338542-49339042 Neighboring gene ReSE screen-validated silencer GRCh37_chr12:49340991-49341204 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr12:49341223-49341815 Neighboring gene NANOG-H3K27ac-H3K4me1 hESC enhancer GRCh37_chr12:49349467-49350462 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 6297 Neighboring gene ReSE screen-validated silencer GRCh37_chr12:49353706-49353915 Neighboring gene small nucleolar RNA U13 Neighboring gene H3K27ac hESC enhancer GRCh37_chr12:49358123-49358716 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr12:49360112-49360664 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr12:49361393-49362276 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 4416 Neighboring gene Wnt family member 10B Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 4417 Neighboring gene RNA, U6 small nuclear 940, pseudogene Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr12:49373043-49373642 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr12:49373643-49374244 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 6298 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr12:49374845-49375445 Neighboring gene uncharacterized LOC105369757 Neighboring gene Wnt family member 1

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_079719.1 

    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
    48971506..48971800
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

Alternate T2T-CHM13v2.0

Genomic

  1. NC_060936.1 Alternate T2T-CHM13v2.0

    Range
    48933707..48934001
    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