U.S. flag

An official website of the United States government

Format

Send to:

Choose Destination

LOC124174294 Sharpr-MPRA regulatory region 2413 [ Homo sapiens (human) ]

Gene ID: 124174294, updated on 12-Sep-2024

Summary

Go to the top of the page Help
Gene symbol
LOC124174294
Gene description
Sharpr-MPRA regulatory region 2413
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 unmatched - State 8:EnhW, candidate weak enhancer and open chromatin). [provided by RefSeq, Feb 2022]
NEW
Try the new Gene table
Try the new Transcript table

Genomic context

Go to the top of the page Help
See LOC124174294 in Genome Data Viewer
Location:
8q
Annotation release Status Assembly Chr Location
RS_2024_08 current GRCh38.p14 (GCF_000001405.40) 8 NC_000008.11 (97207901..97208195)
RS_2024_08 current T2T-CHM13v2.0 (GCF_009914755.1) 8 NC_060932.1 (98333629..98333923)
RS_2024_09 previous assembly GRCh37.p13 (GCF_000001405.25) 8 NC_000008.10 (98220129..98220423)

Chromosome 8 - NC_000008.11Genomic Context describing neighboring genes Neighboring gene carboxypeptidase Q Neighboring gene uncharacterized LOC124901985 Neighboring gene uncharacterized LOC101927066 Neighboring gene uncharacterized LOC105375655 Neighboring gene Sharpr-MPRA regulatory region 10694 Neighboring gene OCT4-NANOG-H3K27ac hESC enhancer GRCh37_chr8:98217733-98218532 Neighboring gene OCT4-NANOG-H3K27ac hESC enhancer GRCh37_chr8:98218533-98219332 Neighboring gene ReSE screen-validated silencer GRCh37_chr8:98226988-98227220 Neighboring gene OCT4-NANOG hESC enhancer GRCh37_chr8:98244253-98244860 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr8:98289193-98289694 Neighboring gene OCT4-NANOG hESC enhancer GRCh37_chr8:98331415-98331933 Neighboring gene Sharpr-MPRA regulatory region 7239 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr8:98346916-98347522 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr8:98347523-98348128 Neighboring gene TSPY like 5 Neighboring gene small nucleolar RNA, C/D box 3H

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

See Variation Viewer (GRCh37.p13)

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_078593.1 

    Range
    101..395
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

RefSeqs of Annotated Genomes: GCF_000001405.40-RS_2024_08

The following sections contain reference sequences that belong to a specific genome build. Explain

Reference GRCh38.p14 Primary Assembly

Genomic

  1. NC_000008.11 Reference GRCh38.p14 Primary Assembly

    Range
    97207901..97208195
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

Alternate T2T-CHM13v2.0

Genomic

  1. NC_060932.1 Alternate T2T-CHM13v2.0

    Range
    98333629..98333923
    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