U.S. flag

An official website of the United States government

Format

Send to:

Choose Destination

LOC121740692 Sharpr-MPRA regulatory region 10425 [ Homo sapiens (human) ]

Gene ID: 121740692, updated on 10-Oct-2023

Summary

Go to the top of the page Help
Gene symbol
LOC121740692
Gene description
Sharpr-MPRA regulatory region 10425
Gene type
biological region
Feature type(s)
regulatory: enhancer, 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 enhancer by the Sharpr-MPRA technique (Systematic high-resolution activation and repression profiling with reporter tiling using massively parallel reporter assays) in HepG2 liver carcinoma cells (group: HepG2 Activating DNase matched - State 5:Enh, candidate strong enhancer, open chromatin). This region also displayed repressive activity by Sharpr-MPRA in K562 erythroleukemia cells (group: K562 Repressive non-DNase unmatched - State 22:ReprW, weaker Polycomb repression). [provided by RefSeq, Jun 2021]
NEW
Try the new Gene table
Try the new Transcript table

Genomic context

Go to the top of the page Help
See LOC121740692 in Genome Data Viewer
Location:
7q
Annotation release Status Assembly Chr Location
RS_2023_10 current GRCh38.p14 (GCF_000001405.40) 7 NC_000007.14 (99213286..99213580)
RS_2023_10 current T2T-CHM13v2.0 (GCF_009914755.1) 7 NC_060931.1 (100446483..100446776)
105.20220307 previous assembly GRCh37.p13 (GCF_000001405.25) 7 NC_000007.13 (98810909..98811203)

Chromosome 7 - NC_000007.14Genomic Context describing neighboring genes Neighboring gene transformation/transcription domain associated protein Neighboring gene uncharacterized LOC101927550 Neighboring gene RNF14 pseudogene 3 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr7:98631759-98632259 Neighboring gene Sharpr-MPRA regulatory region 1794 Neighboring gene SMAD specific E3 ubiquitin protein ligase 1 Neighboring gene H3K27ac hESC enhancer GRCh37_chr7:98695995-98696849 Neighboring gene H3K27ac hESC enhancer GRCh37_chr7:98696850-98697703 Neighboring gene MED14-independent group 3 enhancer GRCh37_chr7:98700145-98701344 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr7:98706490-98706992 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 26311 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 18400 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 18401 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 18402 Neighboring gene ReSE screen-validated silencer GRCh37_chr7:98749275-98749496 Neighboring gene Sharpr-MPRA regulatory region 10979 Neighboring gene karyopherin subunit alpha 7 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr7:98848211-98848712 Neighboring gene uncharacterized LOC105375421 Neighboring gene myosin heavy chain 16 (pseudogene) Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 18403 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 18404 Neighboring gene H3K27ac hESC enhancer GRCh37_chr7:98923087-98923646 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 18405 Neighboring gene H3K27ac hESC enhancer GRCh37_chr7:98955605-98956105 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr7:98957299-98957799 Neighboring gene ReSE screen-validated silencer GRCh37_chr7:98962524-98962729 Neighboring gene actin related protein 2/3 complex subunit 1A

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_075754.1 

    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_000007.14 Reference GRCh38.p14 Primary Assembly

    Range
    99213286..99213580
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

Reference GRCh38.p14 PATCHES

Genomic

  1. NW_017852929.1 Reference GRCh38.p14 PATCHES

    Range
    120915..121209
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

Alternate T2T-CHM13v2.0

Genomic

  1. NC_060931.1 Alternate T2T-CHM13v2.0

    Range
    100446483..100446776
    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