U.S. flag

An official website of the United States government

Format

Send to:

Choose Destination

LOC113748405 Sharpr-MPRA regulatory region 7945 [ Homo sapiens (human) ]

Gene ID: 113748405, updated on 10-Oct-2023

Summary

Go to the top of the page Help
Gene symbol
LOC113748405
Gene description
Sharpr-MPRA regulatory region 7945
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 Sharpr-MPRA (Systematic high-resolution activation and repression profiling with reporter tiling using massively parallel reporter assays) in both HepG2 liver carcinoma cells (group: HepG2 Activating DNase unmatched - State 1:Tss, active promoter, TSS/CpG island region) and K562 erythroleukemia cells (group: K562 Activating DNase unmatched - State 1:Tss). This locus also includes an accessible chromatin subregion that was validated as a silencer based on its ability to repress an origin of replication minimal core promoter by the ATAC-STARR-seq (assay for transposase-accessible chromatin with self-transcribing active regulatory region sequencing) MPRA in GM12878 lymphoblastoid cells. [provided by RefSeq, May 2023]
NEW
Try the new Gene table
Try the new Transcript table

Genomic context

Go to the top of the page Help
Location:
7q
Annotation release Status Assembly Chr Location
RS_2023_10 current GRCh38.p14 (GCF_000001405.40) 7 NC_000007.14 (66592282..66592576)
RS_2023_10 current T2T-CHM13v2.0 (GCF_009914755.1) 7 NC_060931.1 (67811933..67812227)
105.20220307 previous assembly GRCh37.p13 (GCF_000001405.25) 7 NC_000007.13 (66057269..66057563)

Chromosome 7 - NC_000007.14Genomic Context describing neighboring genes Neighboring gene GTF2I repeat domain containing 1 pseudogene Neighboring gene ReSE screen-validated silencer GRCh37_chr7:65981742-65982054 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr7:65995393-65996257 Neighboring gene RABGEF1 pseudogene 1 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr7:66022503-66023318 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr7:66023319-66024134 Neighboring gene ReSE screen-validated silencer GRCh37_chr7:66024161-66024393 Neighboring gene suppressor APC domain containing 2 pseudogene 3 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr7:66054213-66054714 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 18207 Neighboring gene ReSE screen-validated silencer GRCh37_chr7:66057822-66057993 Neighboring gene ribosomal protein L35 pseudogene 5 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 18209 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 18210 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 26084 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 26085 Neighboring gene potassium channel tetramerization domain containing 7

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. Toward a complete human genome sequence. Sanger Center, et al. Genome Res, 1998 Nov. PMID 9847074
  2. 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
  3. ATAC-STARR-seq reveals transcription factor-bound activators and silencers across the chromatin accessible human genome. Hansen TJ, et al. Genome Res, 2022 Jul 20. PMID 35858748, 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)

General gene information

Go to the top of the page Help

Other Names

  • ATAC-STARR-seq lymphoblastoid silent region 18208

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_062516.1 

    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
    66592282..66592576
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

Alternate T2T-CHM13v2.0

Genomic

  1. NC_060931.1 Alternate T2T-CHM13v2.0

    Range
    67811933..67812227
    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