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:1904951 | Colorectum | AD | positive regulation of establishment of protein localization | 112/3918 | 319/18723 | 2.55e-09 | 1.80e-07 | 112 |
GO:0051222 | Colorectum | AD | positive regulation of protein transport | 106/3918 | 303/18723 | 8.45e-09 | 5.08e-07 | 106 |
GO:0034976 | Colorectum | AD | response to endoplasmic reticulum stress | 90/3918 | 256/18723 | 8.48e-08 | 4.28e-06 | 90 |
GO:0009743 | Colorectum | AD | response to carbohydrate | 86/3918 | 253/18723 | 8.43e-07 | 2.90e-05 | 86 |
GO:0034284 | Colorectum | AD | response to monosaccharide | 76/3918 | 225/18723 | 4.64e-06 | 1.23e-04 | 76 |
GO:0033500 | Colorectum | AD | carbohydrate homeostasis | 84/3918 | 259/18723 | 9.10e-06 | 2.15e-04 | 84 |
GO:0009746 | Colorectum | AD | response to hexose | 73/3918 | 219/18723 | 1.20e-05 | 2.65e-04 | 73 |
GO:0009749 | Colorectum | AD | response to glucose | 71/3918 | 212/18723 | 1.31e-05 | 2.85e-04 | 71 |
GO:0042593 | Colorectum | AD | glucose homeostasis | 83/3918 | 258/18723 | 1.44e-05 | 3.11e-04 | 83 |
GO:0001678 | Colorectum | AD | cellular glucose homeostasis | 60/3918 | 172/18723 | 1.49e-05 | 3.18e-04 | 60 |
GO:0006066 | Colorectum | AD | alcohol metabolic process | 106/3918 | 353/18723 | 3.02e-05 | 5.57e-04 | 106 |
GO:0071322 | Colorectum | AD | cellular response to carbohydrate stimulus | 56/3918 | 163/18723 | 4.61e-05 | 7.97e-04 | 56 |
GO:0050708 | Colorectum | AD | regulation of protein secretion | 83/3918 | 268/18723 | 6.59e-05 | 1.07e-03 | 83 |
GO:0071333 | Colorectum | AD | cellular response to glucose stimulus | 52/3918 | 151/18723 | 7.88e-05 | 1.25e-03 | 52 |
GO:0009306 | Colorectum | AD | protein secretion | 105/3918 | 359/18723 | 1.05e-04 | 1.57e-03 | 105 |
GO:0071331 | Colorectum | AD | cellular response to hexose stimulus | 52/3918 | 153/18723 | 1.16e-04 | 1.71e-03 | 52 |
GO:0035592 | Colorectum | AD | establishment of protein localization to extracellular region | 105/3918 | 360/18723 | 1.18e-04 | 1.73e-03 | 105 |
GO:0071326 | Colorectum | AD | cellular response to monosaccharide stimulus | 52/3918 | 154/18723 | 1.40e-04 | 1.98e-03 | 52 |
GO:0045921 | Colorectum | AD | positive regulation of exocytosis | 33/3918 | 86/18723 | 1.58e-04 | 2.20e-03 | 33 |
GO:0071692 | Colorectum | AD | protein localization to extracellular region | 106/3918 | 368/18723 | 1.86e-04 | 2.49e-03 | 106 |
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 | | |