GO ID | Tissue | Disease Stage | Description | Gene Ratio | Bg Ratio | pvalue | p.adjust | Count |
GO:00160328 | Lung | IAC | viral process | 94/2061 | 415/18723 | 5.11e-12 | 4.27e-09 | 94 |
GO:00190588 | Lung | IAC | viral life cycle | 77/2061 | 317/18723 | 1.23e-11 | 4.83e-09 | 77 |
GO:00071737 | Lung | IAC | epidermal growth factor receptor signaling pathway | 31/2061 | 108/18723 | 3.51e-07 | 2.54e-05 | 31 |
GO:00381277 | Lung | IAC | ERBB signaling pathway | 32/2061 | 121/18723 | 1.69e-06 | 8.24e-05 | 32 |
GO:00420585 | Lung | IAC | regulation of epidermal growth factor receptor signaling pathway | 22/2061 | 73/18723 | 7.19e-06 | 2.57e-04 | 22 |
GO:19011845 | Lung | IAC | regulation of ERBB signaling pathway | 22/2061 | 79/18723 | 2.87e-05 | 7.44e-04 | 22 |
GO:001603213 | Lung | AIS | viral process | 85/1849 | 415/18723 | 4.74e-11 | 1.95e-08 | 85 |
GO:001905813 | Lung | AIS | viral life cycle | 68/1849 | 317/18723 | 5.39e-10 | 1.16e-07 | 68 |
GO:000717312 | Lung | AIS | epidermal growth factor receptor signaling pathway | 29/1849 | 108/18723 | 3.99e-07 | 3.23e-05 | 29 |
GO:003812712 | Lung | AIS | ERBB signaling pathway | 30/1849 | 121/18723 | 1.60e-06 | 9.91e-05 | 30 |
GO:004205811 | Lung | AIS | regulation of epidermal growth factor receptor signaling pathway | 20/1849 | 73/18723 | 1.77e-05 | 6.17e-04 | 20 |
GO:190118411 | Lung | AIS | regulation of ERBB signaling pathway | 20/1849 | 79/18723 | 6.12e-05 | 1.67e-03 | 20 |
GO:000717322 | Lung | MIAC | epidermal growth factor receptor signaling pathway | 20/967 | 108/18723 | 5.82e-07 | 9.33e-05 | 20 |
GO:003812722 | Lung | MIAC | ERBB signaling pathway | 20/967 | 121/18723 | 3.70e-06 | 3.88e-04 | 20 |
GO:001905833 | Lung | MIAC | viral life cycle | 36/967 | 317/18723 | 8.00e-06 | 7.07e-04 | 36 |
GO:001603223 | Lung | MIAC | viral process | 39/967 | 415/18723 | 2.34e-04 | 7.89e-03 | 39 |
GO:004205821 | Lung | MIAC | regulation of epidermal growth factor receptor signaling pathway | 12/967 | 73/18723 | 3.35e-04 | 1.01e-02 | 12 |
GO:190118421 | Lung | MIAC | regulation of ERBB signaling pathway | 12/967 | 79/18723 | 7.04e-04 | 1.60e-02 | 12 |
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 |
MVB12B | SNV | Missense_Mutation | novel | c.907N>A | p.Ala303Thr | p.A303T | Q9H7P6 | protein_coding | deleterious(0) | probably_damaging(0.971) | TCGA-GM-A5PX-01 | Breast | breast invasive carcinoma | Female | >=65 | I/II | Hormone Therapy | arimidex | CR |
MVB12B | SNV | Missense_Mutation | novel | c.725N>G | p.Glu242Gly | p.E242G | Q9H7P6 | protein_coding | tolerated(0.11) | possibly_damaging(0.828) | TCGA-EA-A410-01 | Cervix | cervical & endocervical cancer | Female | <65 | I/II | Unknown | Unknown | SD |
MVB12B | SNV | Missense_Mutation | | c.604N>G | p.Gln202Glu | p.Q202E | Q9H7P6 | protein_coding | tolerated(0.45) | benign(0.003) | TCGA-EK-A2PM-01 | Cervix | cervical & endocervical cancer | Female | >=65 | I/II | Unknown | Unknown | SD |
MVB12B | SNV | Missense_Mutation | | c.724G>A | p.Glu242Lys | p.E242K | Q9H7P6 | protein_coding | tolerated(0.26) | possibly_damaging(0.731) | TCGA-Q1-A73O-01 | Cervix | cervical & endocervical cancer | Female | <65 | I/II | Chemotherapy | cisplatin | CR |
MVB12B | SNV | Missense_Mutation | novel | c.587N>T | p.Arg196Ile | p.R196I | Q9H7P6 | protein_coding | deleterious(0) | possibly_damaging(0.898) | TCGA-AG-A002-01 | Colorectum | rectum adenocarcinoma | Male | <65 | I/II | Unknown | Unknown | SD |
MVB12B | SNV | Missense_Mutation | novel | c.904N>A | p.Ala302Thr | p.A302T | Q9H7P6 | protein_coding | deleterious(0) | benign(0.395) | TCGA-EI-6917-01 | Colorectum | rectum adenocarcinoma | Male | <65 | III/IV | Chemotherapy | 5fluorouracil+oxaciplatina+l-folinian | SD |
MVB12B | SNV | Missense_Mutation | | c.797N>T | p.Ser266Phe | p.S266F | Q9H7P6 | protein_coding | tolerated(0.08) | benign(0.006) | TCGA-AP-A1DV-01 | Endometrium | uterine corpus endometrioid carcinoma | Female | <65 | I/II | Unknown | Unknown | SD |
MVB12B | SNV | Missense_Mutation | | c.419N>A | p.Ala140Asp | p.A140D | Q9H7P6 | protein_coding | deleterious(0) | probably_damaging(0.998) | TCGA-AX-A0J0-01 | Endometrium | uterine corpus endometrioid carcinoma | Female | <65 | I/II | Unknown | Unknown | SD |
MVB12B | SNV | Missense_Mutation | | c.797C>A | p.Ser266Tyr | p.S266Y | Q9H7P6 | protein_coding | deleterious(0.02) | benign(0.088) | TCGA-D1-A16X-01 | Endometrium | uterine corpus endometrioid carcinoma | Female | <65 | I/II | Unknown | Unknown | SD |
MVB12B | SNV | Missense_Mutation | rs868665716 | c.490N>T | p.Arg164Trp | p.R164W | Q9H7P6 | protein_coding | deleterious(0) | possibly_damaging(0.905) | TCGA-EO-A3B0-01 | Endometrium | uterine corpus endometrioid carcinoma | Female | <65 | III/IV | Unknown | Unknown | SD |