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:1902653 | Liver | Cirrhotic | secondary alcohol biosynthetic process | 34/4634 | 57/18723 | 2.22e-08 | 7.77e-07 | 34 |
GO:000974312 | Liver | Cirrhotic | response to carbohydrate | 101/4634 | 253/18723 | 6.24e-08 | 1.92e-06 | 101 |
GO:003428412 | Liver | Cirrhotic | response to monosaccharide | 90/4634 | 225/18723 | 2.87e-07 | 7.01e-06 | 90 |
GO:000974612 | Liver | Cirrhotic | response to hexose | 86/4634 | 219/18723 | 1.30e-06 | 2.59e-05 | 86 |
GO:009730512 | Liver | Cirrhotic | response to alcohol | 96/4634 | 253/18723 | 1.97e-06 | 3.65e-05 | 96 |
GO:00097497 | Liver | Cirrhotic | response to glucose | 82/4634 | 212/18723 | 4.54e-06 | 7.51e-05 | 82 |
GO:00224065 | Liver | Cirrhotic | membrane docking | 39/4634 | 86/18723 | 2.47e-05 | 3.22e-04 | 39 |
GO:19016551 | Liver | Cirrhotic | cellular response to ketone | 42/4634 | 96/18723 | 3.55e-05 | 4.32e-04 | 42 |
GO:001087611 | Liver | Cirrhotic | lipid localization | 147/4634 | 448/18723 | 6.24e-05 | 7.12e-04 | 147 |
GO:0046165 | Liver | Cirrhotic | alcohol biosynthetic process | 55/4634 | 140/18723 | 9.74e-05 | 1.03e-03 | 55 |
GO:000686911 | Liver | Cirrhotic | lipid transport | 128/4634 | 398/18723 | 4.54e-04 | 3.69e-03 | 128 |
GO:19016171 | Liver | Cirrhotic | organic hydroxy compound biosynthetic process | 81/4634 | 237/18723 | 6.73e-04 | 5.06e-03 | 81 |
GO:01400565 | Liver | Cirrhotic | organelle localization by membrane tethering | 32/4634 | 77/18723 | 8.65e-04 | 6.23e-03 | 32 |
GO:00713336 | Liver | Cirrhotic | cellular response to glucose stimulus | 55/4634 | 151/18723 | 8.93e-04 | 6.41e-03 | 55 |
GO:005159112 | Liver | Cirrhotic | response to cAMP | 37/4634 | 93/18723 | 9.58e-04 | 6.78e-03 | 37 |
GO:000167812 | Liver | Cirrhotic | cellular glucose homeostasis | 61/4634 | 172/18723 | 1.06e-03 | 7.40e-03 | 61 |
GO:004259312 | Liver | Cirrhotic | glucose homeostasis | 86/4634 | 258/18723 | 1.12e-03 | 7.73e-03 | 86 |
GO:00713316 | Liver | Cirrhotic | cellular response to hexose stimulus | 55/4634 | 153/18723 | 1.27e-03 | 8.56e-03 | 55 |
GO:003350012 | Liver | Cirrhotic | carbohydrate homeostasis | 86/4634 | 259/18723 | 1.28e-03 | 8.61e-03 | 86 |
GO:001591811 | Liver | Cirrhotic | sterol transport | 48/4634 | 130/18723 | 1.32e-03 | 8.83e-03 | 48 |
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 | | |