GO ID | Tissue | Disease Stage | Description | Gene Ratio | Bg Ratio | pvalue | p.adjust | Count |
GO:00316234 | Lung | IAC | receptor internalization | 22/2061 | 113/18723 | 5.49e-03 | 4.11e-02 | 22 |
GO:00364654 | Lung | IAC | synaptic vesicle recycling | 16/2061 | 75/18723 | 6.82e-03 | 4.74e-02 | 16 |
GO:00451975 | Lung | IAC | establishment or maintenance of epithelial cell apical/basal polarity | 11/2061 | 44/18723 | 6.90e-03 | 4.75e-02 | 11 |
GO:004217613 | Lung | AIS | regulation of protein catabolic process | 92/1849 | 391/18723 | 1.34e-15 | 3.91e-12 | 92 |
GO:000716313 | Lung | AIS | establishment or maintenance of cell polarity | 56/1849 | 218/18723 | 1.31e-11 | 6.13e-09 | 56 |
GO:190336213 | Lung | AIS | regulation of cellular protein catabolic process | 62/1849 | 255/18723 | 1.37e-11 | 6.13e-09 | 62 |
GO:003001013 | Lung | AIS | establishment of cell polarity | 42/1849 | 143/18723 | 5.03e-11 | 1.95e-08 | 42 |
GO:003432912 | Lung | AIS | cell junction assembly | 84/1849 | 420/18723 | 2.16e-10 | 5.71e-08 | 84 |
GO:005105611 | Lung | AIS | regulation of small GTPase mediated signal transduction | 66/1849 | 302/18723 | 4.26e-10 | 9.53e-08 | 66 |
GO:190305013 | Lung | AIS | regulation of proteolysis involved in cellular protein catabolic process | 51/1849 | 221/18723 | 5.97e-09 | 9.87e-07 | 51 |
GO:001049813 | Lung | AIS | proteasomal protein catabolic process | 87/1849 | 490/18723 | 4.15e-08 | 5.03e-06 | 87 |
GO:000689812 | Lung | AIS | receptor-mediated endocytosis | 50/1849 | 244/18723 | 4.47e-07 | 3.52e-05 | 50 |
GO:009900311 | Lung | AIS | vesicle-mediated transport in synapse | 42/1849 | 200/18723 | 1.87e-06 | 1.10e-04 | 42 |
GO:003133013 | Lung | AIS | negative regulation of cellular catabolic process | 50/1849 | 262/18723 | 3.94e-06 | 2.05e-04 | 50 |
GO:000726512 | Lung | AIS | Ras protein signal transduction | 60/1849 | 337/18723 | 4.68e-06 | 2.31e-04 | 60 |
GO:006113613 | Lung | AIS | regulation of proteasomal protein catabolic process | 39/1849 | 187/18723 | 5.12e-06 | 2.47e-04 | 39 |
GO:004657812 | Lung | AIS | regulation of Ras protein signal transduction | 39/1849 | 189/18723 | 6.68e-06 | 2.95e-04 | 39 |
GO:000173811 | Lung | AIS | morphogenesis of a polarized epithelium | 24/1849 | 94/18723 | 1.00e-05 | 4.18e-04 | 24 |
GO:009907211 | Lung | AIS | regulation of postsynaptic membrane neurotransmitter receptor levels | 18/1849 | 62/18723 | 1.94e-05 | 6.70e-04 | 18 |
GO:000989513 | Lung | AIS | negative regulation of catabolic process | 55/1849 | 320/18723 | 3.22e-05 | 1.01e-03 | 55 |
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 |
OPHN1 | SNV | Missense_Mutation | | c.1280N>G | p.Pro427Arg | p.P427R | O60890 | protein_coding | tolerated(0.19) | probably_damaging(0.914) | TCGA-A8-A08T-01 | Breast | breast invasive carcinoma | Female | <65 | III/IV | Unknown | Unknown | PD |
OPHN1 | SNV | Missense_Mutation | | c.1258C>A | p.Leu420Met | p.L420M | O60890 | protein_coding | deleterious(0) | probably_damaging(0.991) | TCGA-D8-A1JD-01 | Breast | breast invasive carcinoma | Female | <65 | I/II | Chemotherapy | adriamycin | SD |
OPHN1 | SNV | Missense_Mutation | | c.1054T>C | p.Ser352Pro | p.S352P | O60890 | protein_coding | deleterious(0) | possibly_damaging(0.855) | TCGA-E9-A1ND-01 | Breast | breast invasive carcinoma | Female | >=65 | I/II | Hormone Therapy | aromasin | SD |
OPHN1 | SNV | Missense_Mutation | | c.2269N>A | p.Pro757Thr | p.P757T | O60890 | protein_coding | tolerated_low_confidence(0.9) | benign(0.003) | TCGA-EW-A1IZ-01 | Breast | breast invasive carcinoma | Female | <65 | III/IV | Chemotherapy | taxotere | SD |
OPHN1 | insertion | Nonsense_Mutation | novel | c.378_379insTCTTTGATTTCATTGAGCAGTGGTTTCTAGTTCTCCTTGAAG | p.Phe126_Thr127insSerLeuIleSerLeuSerSerGlyPheTerPheSerLeuLys | p.F126_T127insSLISLSSGF*FSLK | O60890 | protein_coding | | | TCGA-A2-A0CP-01 | Breast | breast invasive carcinoma | Female | <65 | I/II | Chemotherapy | cytoxan | SD |
OPHN1 | SNV | Missense_Mutation | | c.1672N>A | p.Glu558Lys | p.E558K | O60890 | protein_coding | deleterious(0) | probably_damaging(0.968) | TCGA-2W-A8YY-01 | Cervix | cervical & endocervical cancer | Female | <65 | I/II | Chemotherapy | cisplatin | CR |
OPHN1 | SNV | Missense_Mutation | | c.604N>A | p.Ala202Thr | p.A202T | O60890 | protein_coding | deleterious(0.03) | benign(0.048) | TCGA-C5-A3HE-01 | Cervix | cervical & endocervical cancer | Female | <65 | I/II | Unknown | Unknown | PD |
OPHN1 | SNV | Missense_Mutation | | c.1441N>T | p.Arg481Cys | p.R481C | O60890 | protein_coding | deleterious(0) | probably_damaging(0.998) | TCGA-C5-A8XJ-01 | Cervix | cervical & endocervical cancer | Female | >=65 | I/II | Chemotherapy | cisplatin | SD |
OPHN1 | SNV | Missense_Mutation | | c.2132C>T | p.Pro711Leu | p.P711L | O60890 | protein_coding | deleterious(0.05) | benign(0.023) | TCGA-FU-A3HZ-01 | Cervix | cervical & endocervical cancer | Female | <65 | I/II | Chemotherapy | cisplatin | CR |
OPHN1 | SNV | Missense_Mutation | novel | c.1343N>A | p.Ser448Tyr | p.S448Y | O60890 | protein_coding | deleterious(0.02) | possibly_damaging(0.9) | TCGA-VS-A94X-01 | Cervix | cervical & endocervical cancer | Female | <65 | I/II | Chemotherapy | cisplatin | PD |