GO ID | Tissue | Disease Stage | Description | Gene Ratio | Bg Ratio | pvalue | p.adjust | Count |
GO:00715594 | Lung | IAC | response to transforming growth factor beta | 60/2061 | 256/18723 | 9.50e-09 | 1.25e-06 | 60 |
GO:00715604 | Lung | IAC | cellular response to transforming growth factor beta stimulus | 57/2061 | 250/18723 | 6.17e-08 | 6.54e-06 | 57 |
GO:00071794 | Lung | IAC | transforming growth factor beta receptor signaling pathway | 45/2061 | 198/18723 | 1.60e-06 | 7.93e-05 | 45 |
GO:00071785 | Lung | IAC | transmembrane receptor protein serine/threonine kinase signaling pathway | 60/2061 | 355/18723 | 4.82e-04 | 7.03e-03 | 60 |
GO:19038444 | Lung | IAC | regulation of cellular response to transforming growth factor beta stimulus | 27/2061 | 131/18723 | 9.41e-04 | 1.14e-02 | 27 |
GO:00170153 | Lung | IAC | regulation of transforming growth factor beta receptor signaling pathway | 26/2061 | 128/18723 | 1.45e-03 | 1.55e-02 | 26 |
GO:0030512 | Lung | IAC | negative regulation of transforming growth factor beta receptor signaling pathway | 18/2061 | 81/18723 | 2.68e-03 | 2.46e-02 | 18 |
GO:007155912 | Lung | AIS | response to transforming growth factor beta | 51/1849 | 256/18723 | 8.45e-07 | 6.08e-05 | 51 |
GO:007156012 | Lung | AIS | cellular response to transforming growth factor beta stimulus | 48/1849 | 250/18723 | 5.13e-06 | 2.47e-04 | 48 |
GO:000717912 | Lung | AIS | transforming growth factor beta receptor signaling pathway | 39/1849 | 198/18723 | 2.08e-05 | 7.12e-04 | 39 |
GO:190384412 | Lung | AIS | regulation of cellular response to transforming growth factor beta stimulus | 25/1849 | 131/18723 | 9.61e-04 | 1.27e-02 | 25 |
GO:000717812 | Lung | AIS | transmembrane receptor protein serine/threonine kinase signaling pathway | 53/1849 | 355/18723 | 1.51e-03 | 1.82e-02 | 53 |
GO:001701512 | Lung | AIS | regulation of transforming growth factor beta receptor signaling pathway | 24/1849 | 128/18723 | 1.55e-03 | 1.82e-02 | 24 |
GO:00305121 | Lung | AIS | negative regulation of transforming growth factor beta receptor signaling pathway | 17/1849 | 81/18723 | 2.09e-03 | 2.28e-02 | 17 |
GO:0090101 | Lung | AIS | negative regulation of transmembrane receptor protein serine/threonine kinase signaling pathway | 23/1849 | 131/18723 | 4.54e-03 | 4.00e-02 | 23 |
GO:007155922 | Lung | MIAC | response to transforming growth factor beta | 28/967 | 256/18723 | 1.51e-04 | 5.95e-03 | 28 |
GO:007156022 | Lung | MIAC | cellular response to transforming growth factor beta stimulus | 26/967 | 250/18723 | 5.59e-04 | 1.42e-02 | 26 |
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 |
VEPH1 | SNV | Missense_Mutation | rs373769969 | c.1478N>T | p.Pro493Leu | p.P493L | Q14D04 | protein_coding | deleterious(0.03) | benign(0.048) | TCGA-A2-A04W-01 | Breast | breast invasive carcinoma | Female | <65 | I/II | Chemotherapy | cytoxan | SD |
VEPH1 | SNV | Missense_Mutation | | c.2407N>C | p.Asp803His | p.D803H | Q14D04 | protein_coding | deleterious(0) | probably_damaging(0.949) | TCGA-A7-A26G-01 | Breast | breast invasive carcinoma | Female | <65 | I/II | Chemotherapy | taxotere | SD |
VEPH1 | SNV | Missense_Mutation | novel | c.2146N>A | p.Gln716Lys | p.Q716K | Q14D04 | protein_coding | deleterious(0.04) | possibly_damaging(0.791) | TCGA-AC-A8OS-01 | Breast | breast invasive carcinoma | Female | >=65 | I/II | Unknown | Unknown | SD |
VEPH1 | SNV | Missense_Mutation | novel | c.796N>T | p.Pro266Ser | p.P266S | Q14D04 | protein_coding | deleterious(0) | probably_damaging(0.996) | TCGA-AN-A046-01 | Breast | breast invasive carcinoma | Female | >=65 | I/II | Unknown | Unknown | SD |
VEPH1 | SNV | Missense_Mutation | | c.1468N>C | p.Asp490His | p.D490H | Q14D04 | protein_coding | deleterious(0.01) | benign(0.131) | TCGA-AR-A1AO-01 | Breast | breast invasive carcinoma | Female | <65 | I/II | Chemotherapy | doxorubicin | SD |
VEPH1 | deletion | Frame_Shift_Del | novel | c.2304delN | p.Val769TyrfsTer4 | p.V769Yfs*4 | Q14D04 | protein_coding | | | TCGA-D8-A27V-01 | Breast | breast invasive carcinoma | Female | <65 | I/II | Hormone Therapy | tamoxiphen | SD |
VEPH1 | SNV | Missense_Mutation | | c.1557N>C | p.Glu519Asp | p.E519D | Q14D04 | protein_coding | tolerated(0.25) | benign(0.139) | TCGA-DR-A0ZM-01 | Cervix | cervical & endocervical cancer | Female | <65 | III/IV | Unspecific | Cisplatin | SD |
VEPH1 | SNV | Missense_Mutation | | c.625N>G | p.Gln209Glu | p.Q209E | Q14D04 | protein_coding | tolerated(0.2) | benign(0.024) | TCGA-EK-A2R8-01 | Cervix | cervical & endocervical cancer | Female | <65 | I/II | Unknown | Unknown | SD |
VEPH1 | SNV | Missense_Mutation | | c.79N>A | p.Glu27Lys | p.E27K | Q14D04 | protein_coding | deleterious(0.05) | possibly_damaging(0.907) | TCGA-EK-A2RN-01 | Cervix | cervical & endocervical cancer | Female | <65 | I/II | Unknown | Unknown | SD |
VEPH1 | SNV | Missense_Mutation | novel | c.2402N>T | p.Ala801Val | p.A801V | Q14D04 | protein_coding | deleterious(0) | probably_damaging(0.983) | TCGA-VS-A94Z-01 | Cervix | cervical & endocervical cancer | Female | <65 | I/II | Chemotherapy | cisplatin | CR |