Tissue | Expression Dynamics | Abbreviation |
Colorectum (GSE201348) | ![The image shows the transcriptomic changes along malignancy continuum.log2FC in expression of this searched gene in stem-like cells from each diseased tissue sample relative to stem-like cells in normal samples in each tissue plotted against the malignancy continuum. Samples are colored based on if they are from different disease stage.](images/deg_images/Colorectum/Becker/CFTR_pca_on_diff_genes.png) | FAP: Familial adenomatous polyposis |
CRC: Colorectal cancer |
Colorectum (HTA11) | ![The image shows the transcriptomic changes along malignancy continuum.log2FC in expression of this searched gene in stem-like cells from each diseased tissue sample relative to stem-like cells in normal samples in each tissue plotted against the malignancy continuum. Samples are colored based on if they are from different disease stage.](images/deg_images/Colorectum/Chen/CFTR_pca_on_diff_genes.png) | AD: Adenomas |
SER: Sessile serrated lesions |
MSI-H: Microsatellite-high colorectal cancer |
MSS: Microsatellite stable colorectal cancer |
Endometrium | ![The image shows the transcriptomic changes along malignancy continuum.log2FC in expression of this searched gene in stem-like cells from each diseased tissue sample relative to stem-like cells in normal samples in each tissue plotted against the malignancy continuum. Samples are colored based on if they are from different disease stage.](images/deg_images/Endometrium/CFTR_pca_on_diff_genes.png) | AEH: Atypical endometrial hyperplasia |
EEC: Endometrioid Cancer |
Liver | ![The image shows the transcriptomic changes along malignancy continuum.log2FC in expression of this searched gene in stem-like cells from each diseased tissue sample relative to stem-like cells in normal samples in each tissue plotted against the malignancy continuum. Samples are colored based on if they are from different disease stage.](images/deg_images/Liver/CFTR_pca_on_diff_genes.png) | HCC: Hepatocellular carcinoma |
NAFLD: Non-alcoholic fatty liver disease |
Lung | ![The image shows the transcriptomic changes along malignancy continuum.log2FC in expression of this searched gene in stem-like cells from each diseased tissue sample relative to stem-like cells in normal samples in each tissue plotted against the malignancy continuum. Samples are colored based on if they are from different disease stage.](images/deg_images/Lung/CFTR_pca_on_diff_genes.png) | AAH: Atypical adenomatous hyperplasia |
AIS: Adenocarcinoma in situ |
IAC: Invasive lung adenocarcinoma |
MIA: Minimally invasive adenocarcinoma |
GO ID | Tissue | Disease Stage | Description | Gene Ratio | Bg Ratio | pvalue | p.adjust | Count |
GO:00425933 | Colorectum | FAP | glucose homeostasis | 59/2622 | 258/18723 | 7.62e-05 | 1.37e-03 | 59 |
GO:0023061 | Colorectum | FAP | signal release | 94/2622 | 463/18723 | 1.06e-04 | 1.76e-03 | 94 |
GO:00228981 | Colorectum | FAP | regulation of transmembrane transporter activity | 62/2622 | 278/18723 | 1.09e-04 | 1.80e-03 | 62 |
GO:00324121 | Colorectum | FAP | regulation of ion transmembrane transporter activity | 60/2622 | 267/18723 | 1.12e-04 | 1.84e-03 | 60 |
GO:00515911 | Colorectum | FAP | response to cAMP | 27/2622 | 93/18723 | 1.26e-04 | 2.03e-03 | 27 |
GO:00706331 | Colorectum | FAP | transepithelial transport | 13/2622 | 31/18723 | 1.34e-04 | 2.15e-03 | 13 |
GO:00508784 | Colorectum | FAP | regulation of body fluid levels | 79/2622 | 379/18723 | 1.52e-04 | 2.35e-03 | 79 |
GO:00324092 | Colorectum | FAP | regulation of transporter activity | 67/2622 | 310/18723 | 1.59e-04 | 2.43e-03 | 67 |
GO:00510473 | Colorectum | FAP | positive regulation of secretion | 67/2622 | 310/18723 | 1.59e-04 | 2.43e-03 | 67 |
GO:19035322 | Colorectum | FAP | positive regulation of secretion by cell | 62/2622 | 282/18723 | 1.67e-04 | 2.52e-03 | 62 |
GO:00016783 | Colorectum | FAP | cellular glucose homeostasis | 42/2622 | 172/18723 | 1.77e-04 | 2.64e-03 | 42 |
GO:00300733 | Colorectum | FAP | insulin secretion | 46/2622 | 195/18723 | 2.12e-04 | 3.03e-03 | 46 |
GO:00158333 | Colorectum | FAP | peptide transport | 58/2622 | 264/18723 | 2.71e-04 | 3.64e-03 | 58 |
GO:00068691 | Colorectum | FAP | lipid transport | 81/2622 | 398/18723 | 2.84e-04 | 3.76e-03 | 81 |
GO:00300043 | Colorectum | FAP | cellular monovalent inorganic cation homeostasis | 28/2622 | 103/18723 | 3.23e-04 | 4.15e-03 | 28 |
GO:19016544 | Colorectum | FAP | response to ketone | 45/2622 | 194/18723 | 3.67e-04 | 4.63e-03 | 45 |
GO:00514532 | Colorectum | FAP | regulation of intracellular pH | 22/2622 | 75/18723 | 4.38e-04 | 5.21e-03 | 22 |
GO:00713223 | Colorectum | FAP | cellular response to carbohydrate stimulus | 39/2622 | 163/18723 | 4.58e-04 | 5.39e-03 | 39 |
GO:0046683 | Colorectum | FAP | response to organophosphorus | 33/2622 | 131/18723 | 4.61e-04 | 5.39e-03 | 33 |
GO:00902763 | Colorectum | FAP | regulation of peptide hormone secretion | 45/2622 | 196/18723 | 4.66e-04 | 5.41e-03 | 45 |
Hugo Symbol | Variant Class | Variant Classification | dbSNP RS | HGVSc | HGVSp | HGVSp Short | SWISSPROT | BIOTYPE | SIFT | PolyPhen | Tumor Sample Barcode | Tissue | Histology | Sex | Age | Stage | Therapy Types | Drugs | Outcome |
CFTR | SNV | Missense_Mutation | | c.311N>C | p.Arg104Thr | p.R104T | P13569 | protein_coding | deleterious(0.03) | probably_damaging(0.997) | TCGA-AC-A23H-01 | Breast | breast invasive carcinoma | Female | >=65 | I/II | Unknown | Unknown | PD |
CFTR | SNV | Missense_Mutation | | c.3568N>C | p.Val1190Leu | p.V1190L | P13569 | protein_coding | tolerated(0.27) | benign(0.156) | TCGA-AC-A23H-01 | Breast | breast invasive carcinoma | Female | >=65 | I/II | Unknown | Unknown | PD |
CFTR | SNV | Missense_Mutation | rs397508381 | c.2476G>A | p.Glu826Lys | p.E826K | P13569 | protein_coding | deleterious(0.01) | probably_damaging(0.954) | TCGA-AN-A046-01 | Breast | breast invasive carcinoma | Female | >=65 | I/II | Unknown | Unknown | SD |
CFTR | SNV | Missense_Mutation | novel | c.3460G>A | p.Asp1154Asn | p.D1154N | P13569 | protein_coding | deleterious(0) | probably_damaging(0.997) | TCGA-AN-A046-01 | Breast | breast invasive carcinoma | Female | >=65 | I/II | Unknown | Unknown | SD |
CFTR | SNV | Missense_Mutation | | c.3758N>C | p.Leu1253Ser | p.L1253S | P13569 | protein_coding | deleterious(0) | probably_damaging(1) | TCGA-AO-A124-01 | Breast | breast invasive carcinoma | Female | <65 | I/II | Chemotherapy | doxorubicin | SD |
CFTR | SNV | Missense_Mutation | | c.1345N>C | p.Glu449Gln | p.E449Q | P13569 | protein_coding | tolerated(0.06) | benign(0.337) | TCGA-AR-A0TX-01 | Breast | breast invasive carcinoma | Female | <65 | I/II | Unknown | Unknown | SD |
CFTR | SNV | Missense_Mutation | | c.1775G>T | p.Cys592Phe | p.C592F | P13569 | protein_coding | deleterious(0) | probably_damaging(0.999) | TCGA-BH-A0DV-01 | Breast | breast invasive carcinoma | Female | <65 | III/IV | Chemotherapy | taxotere | CR |
CFTR | SNV | Missense_Mutation | | c.2771N>G | p.Asp924Gly | p.D924G | P13569 | protein_coding | tolerated(0.11) | benign(0.378) | TCGA-BH-A18G-01 | Breast | breast invasive carcinoma | Female | >=65 | I/II | Unknown | Unknown | SD |
CFTR | SNV | Missense_Mutation | | c.4273G>T | p.Asp1425Tyr | p.D1425Y | P13569 | protein_coding | deleterious(0) | possibly_damaging(0.896) | TCGA-BH-A18U-01 | Breast | breast invasive carcinoma | Female | >=65 | III/IV | Unknown | Unknown | SD |
CFTR | SNV | Missense_Mutation | novel | c.453G>C | p.Gln151His | p.Q151H | P13569 | protein_coding | deleterious(0.01) | probably_damaging(0.999) | TCGA-BH-A2L8-01 | Breast | breast invasive carcinoma | Female | <65 | I/II | Chemotherapy | cytoxan | CR |
Entrez ID | Symbol | Category | Interaction Types | Drug Claim Name | Drug Name | PMIDs |
1080 | CFTR | DRUGGABLE GENOME, ABC TRANSPORTER, ION CHANNEL, TRANSPORTER, CELL SURFACE, CLINICALLY ACTIONABLE | | ivacaftor / tezacaftor | | |
1080 | CFTR | DRUGGABLE GENOME, ABC TRANSPORTER, ION CHANNEL, TRANSPORTER, CELL SURFACE, CLINICALLY ACTIONABLE | | elexacaftor / tezacaftor / ivacaftor | | |
1080 | CFTR | DRUGGABLE GENOME, ABC TRANSPORTER, ION CHANNEL, TRANSPORTER, CELL SURFACE, CLINICALLY ACTIONABLE | | VX-809 | LUMACAFTOR | |
1080 | CFTR | DRUGGABLE GENOME, ABC TRANSPORTER, ION CHANNEL, TRANSPORTER, CELL SURFACE, CLINICALLY ACTIONABLE | | lumacaftor | LUMACAFTOR | 22698459,24561283,26137539,24038832,22293084,24973281,21825083,24392786,26823392,28325531,24796242,27334259,21976485,23891399 |
1080 | CFTR | DRUGGABLE GENOME, ABC TRANSPORTER, ION CHANNEL, TRANSPORTER, CELL SURFACE, CLINICALLY ACTIONABLE | blocker | 178101015 | | |
1080 | CFTR | DRUGGABLE GENOME, ABC TRANSPORTER, ION CHANNEL, TRANSPORTER, CELL SURFACE, CLINICALLY ACTIONABLE | inhibitor | 187051756 | CROFELEMER | |
1080 | CFTR | DRUGGABLE GENOME, ABC TRANSPORTER, ION CHANNEL, TRANSPORTER, CELL SURFACE, CLINICALLY ACTIONABLE | | ABBV-2451 | | |
1080 | CFTR | DRUGGABLE GENOME, ABC TRANSPORTER, ION CHANNEL, TRANSPORTER, CELL SURFACE, CLINICALLY ACTIONABLE | activator | 53801090 | CAPSAICIN | |
1080 | CFTR | DRUGGABLE GENOME, ABC TRANSPORTER, ION CHANNEL, TRANSPORTER, CELL SURFACE, CLINICALLY ACTIONABLE | | IVACAFTOR | IVACAFTOR | |
1080 | CFTR | DRUGGABLE GENOME, ABC TRANSPORTER, ION CHANNEL, TRANSPORTER, CELL SURFACE, CLINICALLY ACTIONABLE | activator | 178101101 | | |