This region represents a DNase I hypersensitive site, DHS-79.5kb, located approximately 80 kb upstream of the cystic fibrosis transmembrane conductance regulator (CFTR) gene. This region has been shown to associate with CTCF and the cohesin complex subunit RAD21, and it can form looping interactions with the CFTR promoter and the +48.9 kb and -20.9 kb CFTR regulatory elements. ... See more...

Aliases for LOC111674465 Gene

Aliases for LOC111674465 Gene

  • DNase I Hypersensitive Site -80 Kb Upstream Of CFTR 3
  • CFTR -79.5 Kb DNase I Hypersensitive Site 3
  • CFTR Looping Element I 3
  • DHS-79.5kb 3

External Ids for LOC111674465 Gene

Summaries for LOC111674465 Gene

Entrez Gene Summary for LOC111674465 Gene

  • This region represents a DNase I hypersensitive site, DHS-79.5kb, located approximately 80 kb upstream of the cystic fibrosis transmembrane conductance regulator (CFTR) gene. This region has been shown to associate with CTCF and the cohesin complex subunit RAD21, and it can form looping interactions with the CFTR promoter and the +48.9 kb and -20.9 kb CFTR regulatory elements. [provided by RefSeq, Nov 2018]

GeneCards Summary for LOC111674465 Gene

LOC111674465 (DNase I Hypersensitive Site -80 Kb Upstream Of CFTR) is a Biological Region gene. Diseases associated with LOC111674465 include Cystic Fibrosis.

Additional gene information for LOC111674465 Gene

No data available for CIViC Summary , UniProtKB/Swiss-Prot Summary , Tocris Summary , Gene Wiki entry , PharmGKB "VIP" Summary , Rfam classification and piRNA Summary for LOC111674465 Gene

Genomics for LOC111674465 Gene

Genomic Locations for LOC111674465 Gene

Genomic Locations for LOC111674465 Gene
chr7:-
(GRCh38/hg38)
Orientation:
Unknown strand

Genomic View for LOC111674465 Gene


Cytogenetic band:
GeneLoc Logo Gene Density

RefSeq DNA sequence for LOC111674465 Gene

No data available for GeneHancer (GH) Regulatory Elements for LOC111674465 Gene

Proteins for LOC111674465 Gene

Post-translational modifications for LOC111674465 Gene

No Post-translational modifications

No data available for DME Specific Peptides for LOC111674465 Gene

Domains & Families for LOC111674465 Gene

No data available for Gene Families , Protein Domains , Suggested Antigen Peptide Sequences , Graphical View of Domain Structure and UniProtKB/Swiss-Prot for LOC111674465 Gene

Function for LOC111674465 Gene

No data available for Molecular function , Enzyme Numbers (IUBMB) , Phenotypes From GWAS Catalog , Gene Ontology (GO) - Molecular Function , Phenotypes , Human Phenotype Ontology , Animal Models , miRNA , Transcription Factor Targets and HOMER Transcription for LOC111674465 Gene

Localization for LOC111674465 Gene

No data available for Subcellular locations from UniProtKB/Swiss-Prot , Subcellular locations from COMPARTMENTS , Subcellular locations from the Human Protein Atlas (HPA) and Gene Ontology (GO) - Cellular Components for LOC111674465 Gene

Pathways & Interactions for LOC111674465 Gene

PathCards logo

SuperPathways for LOC111674465 Gene

No Data Available
;

Gene Ontology (GO) - Biological Process for LOC111674465 Gene

None

No data available for Pathways by source , Interacting Proteins and SIGNOR curated interactions for LOC111674465 Gene

Drugs & Compounds for LOC111674465 Gene

No Compound Related Data Available

Transcripts for LOC111674465 Gene

Alternative Splicing Database (ASD) splice patterns (SP) for LOC111674465 Gene

No ASD Table

No data available for mRNA/cDNA for LOC111674465 Gene

Expression for LOC111674465 Gene

No Expression Related Data Available

No data available for mRNA expression in normal human tissues , mRNA expression in embryonic tissues and stem cells from LifeMap Discovery , mRNA differential expression in normal tissues , Protein differential expression in normal tissues , Protein expression , Protein tissue co-expression partners , mRNA Expression by UniProt/SwissProt , Evidence on tissue expression from TISSUES and Phenotype-based relationships between genes and organs from Gene ORGANizer for LOC111674465 Gene

Orthologs for LOC111674465 Gene

No data available for Orthologs and Evolution for LOC111674465 Gene

Paralogs for LOC111674465 Gene

No data available for Paralogs for LOC111674465 Gene

Variants for LOC111674465 Gene

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot , Sequence variations, with clinical significance, from ClinVar and Humsavar, with links to dbSNP , Additional dbSNP identifiers (rs#s) , Structural Variations from Database of Genomic Variants (DGV) , Variation tolerance and Additional Variant Information for LOC111674465 Gene

Disorders for LOC111674465 Gene

MalaCards: The human disease database

(1) MalaCards diseases for LOC111674465 Gene - From: GeneCards

Disorder Aliases PubMed IDs
cystic fibrosis
  • cf
- elite association - COSMIC cancer census association via MalaCards
genes like me logo Genes that share disorders with LOC111674465: view

No data available for UniProtKB/Swiss-Prot , Genatlas and External Links for LOC111674465 Gene

Publications for LOC111674465 Gene

  1. Screening for Regulatory Variants in 460 kb Encompassing the CFTR Locus in Cystic Fibrosis Patients. (PMID: 30296588) Kerschner JL … Harris A (The Journal of molecular diagnostics : JMD 2019) 3 54
  2. A transcription factor network represses CFTR gene expression in airway epithelial cells. (PMID: 29572268) Mutolo MJ … Harris A (The Biochemical journal 2018) 3 54
  3. Analysis of long-range interactions in primary human cells identifies cooperative CFTR regulatory elements. (PMID: 26615198) Moisan S … Férec C (Nucleic acids research 2016) 3 54
  4. Differential contribution of cis-regulatory elements to higher order chromatin structure and expression of the CFTR locus. (PMID: 26673704) Yang R … Harris A (Nucleic acids research 2016) 3 54
  5. Chromatin Dynamics in the Regulation of CFTR Expression. (PMID: 26184320) Gosalia N … Harris A (Genes 2015) 3 54

No data available for Mastermind for LOC111674465 Gene

Products for LOC111674465 Gene

Sources for LOC111674465 Gene