U.S. flag

An official website of the United States government

Format

Send to:

Choose Destination

LOC111718490 skeletal muscle cis-regulatory module in IFITM10 intron [ Homo sapiens (human) ]

Gene ID: 111718490, updated on 10-Oct-2023

Summary

Go to the top of the page Help
Gene symbol
LOC111718490
Gene description
skeletal muscle cis-regulatory module in IFITM10 intron
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 region, which is located in an intron of the IFITM10 (interferon induced transmembrane protein 10) gene on chromosome 11, represents a cis-regulatory module (CRM) that functions as an enhancer in skeletal muscle. This element was randomly selected as a conserved region with a high regulatory potential score, and it was also identified as a CRM by the ClusterBuster prediction method. It was shown to drive selective reporter gene expression in differentiated C2C12 myotubes. [provided by RefSeq, Jan 2018]
NEW
Try the new Gene table
Try the new Transcript table

Genomic context

Go to the top of the page Help
Location:
11p
Annotation release Status Assembly Chr Location
RS_2023_10 current GRCh38.p14 (GCF_000001405.40) 11 NC_000011.10 (1743601..1743959)
RS_2023_10 current T2T-CHM13v2.0 (GCF_009914755.1) 11 NC_060935.1 (1829149..1829507)
105.20220307 previous assembly GRCh37.p13 (GCF_000001405.25) 11 NC_000011.9 (1764831..1765189)

Chromosome 11 - NC_000011.10Genomic Context describing neighboring genes Neighboring gene long intergenic non-protein coding RNA 2708 Neighboring gene keratin associated protein 5-6 Neighboring gene interferon induced transmembrane protein 10 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr11:1770125-1770880 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr11:1770881-1771636 Neighboring gene cathepsin D Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 3057 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 3058 Neighboring gene PRC2 and DDX5 associated lncRNA Neighboring gene uncharacterized LOC105376517

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. Validation of skeletal muscle cis-regulatory module predictions reveals nucleotide composition bias in functional enhancers. Kwon AT, et al. PLoS Comput Biol, 2011 Dec. PMID 22144875, 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

  • IFITM10 intronic myotube-selective CRM

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_056139.1 

    Range
    101..459
    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
    1743601..1743959
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

Alternate T2T-CHM13v2.0

Genomic

  1. NC_060935.1 Alternate T2T-CHM13v2.0

    Range
    1829149..1829507
    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