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p(HGNC:CFTR, var("p.Phe508del"))

Equivalencies: 0 | Classes: 0 | Children: 0 | Explore

Entity

Name
CFTR
Namespace
hgnc
Namespace Version
20180906
Namespace URL
https://raw.githubusercontent.com/pharmacome/terminology/b46b65c3da259b6e86026514dfececab7c22a11b/external/hgnc-names.belns

Appears in Networks 1

The Ubiquitin Proteasome System in Neurodegenerative Diseases: Sometimes the Chicken, Sometimes the Egg v1.0.0

In-Edges 1

p(HGNC:CFTR) hasVariant p(HGNC:CFTR, var("p.Phe508del")) View Subject | View Object

Appears in Networks:

Out-Edges 2

p(HGNC:CFTR, var("p.Phe508del")) increases deg(p(HGNC:CFTR)) View Subject | View Object

This case may be analogous to the loss of function observed during the rapid degradation of mutated ΔF508 Cystic Fibrosis Transmembrane conductance Regulator (CFTR), which is also an active protein, and that the rapid degradation of which contributes to the pathogenesis of cystic fibrosis (CF) in patients carrying the mutation PubMed:14556719

Appears in Networks:

p(HGNC:CFTR, var("p.Phe508del")) increases path(MESH:"Cystic Fibrosis") View Subject | View Object

This case may be analogous to the loss of function observed during the rapid degradation of mutated ΔF508 Cystic Fibrosis Transmembrane conductance Regulator (CFTR), which is also an active protein, and that the rapid degradation of which contributes to the pathogenesis of cystic fibrosis (CF) in patients carrying the mutation PubMed:14556719

Appears in Networks:

About

BEL Commons is developed and maintained in an academic capacity by Charles Tapley Hoyt and Daniel Domingo-Fernández at the Fraunhofer SCAI Department of Bioinformatics with support from the IMI project, AETIONOMY. It is built on top of PyBEL, an open source project. Please feel free to contact us here to give us feedback or report any issues. Also, see our Publishing Notes and Data Protection information.

If you find BEL Commons useful in your work, please consider citing: Hoyt, C. T., Domingo-Fernández, D., & Hofmann-Apitius, M. (2018). BEL Commons: an environment for exploration and analysis of networks encoded in Biological Expression Language. Database, 2018(3), 1–11.