U.S. flag

An official website of the United States government

Format

Send to:

Choose Destination

LOC112042785 Sharpr-MPRA regulatory region 9139 [ Homo sapiens (human) ]

Gene ID: 112042785, updated on 10-Oct-2023

Summary

Go to the top of the page Help
Gene symbol
LOC112042785
Gene description
Sharpr-MPRA regulatory region 9139
Gene type
biological region
Feature type(s)
regulatory: enhancer
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 both HepG2 liver carcinoma cells (group: HepG2 Activating DNase unmatched - State 9:DNaseU, primarily UW DNase, weaker open chromatin sites) and K562 erythroleukemia cells (group: K562 Activating DNase unmatched - State 8:EnhW, candidate weak enhancer and open chromatin). [provided by RefSeq, Feb 2018]
NEW
Try the new Gene table
Try the new Transcript table

Genomic context

Go to the top of the page Help
Location:
11q
Annotation release Status Assembly Chr Location
RS_2023_10 current GRCh38.p14 (GCF_000001405.40) 11 NC_000011.10 (123083621..123083915)
RS_2023_10 current T2T-CHM13v2.0 (GCF_009914755.1) 11 NC_060935.1 (123112197..123112491)
105.20220307 previous assembly GRCh37.p13 (GCF_000001405.25) 11 NC_000011.9 (122954329..122954623)

Chromosome 11 - NC_000011.10Genomic Context describing neighboring genes Neighboring gene ATAC-STARR-seq lymphoblastoid active region 5675 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 4011 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 5676 Neighboring gene uncharacterized LOC124902775 Neighboring gene small nucleolar RNA, C/D box 14D Neighboring gene small nucleolar RNA, C/D box 14C Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 4012 Neighboring gene heat shock protein family A (Hsp70) member 8 Neighboring gene CXADR like membrane protein Neighboring gene ReSE screen-validated silencer GRCh37_chr11:123005125-123005345 Neighboring gene FUN14 domain-containing protein 1-like Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr11:123037445-123038142 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr11:123038841-123039537 Neighboring gene NANOG-H3K27ac hESC enhancer GRCh37_chr11:123039572-123040404 Neighboring gene H3K27ac hESC enhancer GRCh37_chr11:123051287-123051788 Neighboring gene H3K27ac hESC enhancer GRCh37_chr11:123051789-123052288 Neighboring gene uncharacterized LOC105369540 Neighboring gene uncharacterized LOC105369539

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_056434.1 

    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_000011.10 Reference GRCh38.p14 Primary Assembly

    Range
    123083621..123083915
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

Alternate T2T-CHM13v2.0

Genomic

  1. NC_060935.1 Alternate T2T-CHM13v2.0

    Range
    123112197..123112491
    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