GO ID | Tissue | Disease Stage | Description | Gene Ratio | Bg Ratio | pvalue | p.adjust | Count |
GO:00328682 | Colorectum | MSS | response to insulin | 68/3467 | 264/18723 | 2.10e-03 | 1.78e-02 | 68 |
GO:00901621 | Colorectum | MSS | establishment of epithelial cell polarity | 13/3467 | 31/18723 | 2.14e-03 | 1.80e-02 | 13 |
GO:00428861 | Colorectum | MSS | amide transport | 76/3467 | 301/18723 | 2.14e-03 | 1.80e-02 | 76 |
GO:0034764 | Colorectum | MSS | positive regulation of transmembrane transport | 58/3467 | 219/18723 | 2.19e-03 | 1.83e-02 | 58 |
GO:00513461 | Colorectum | MSS | negative regulation of hydrolase activity | 92/3467 | 379/18723 | 2.85e-03 | 2.22e-02 | 92 |
GO:00300042 | Colorectum | MSS | cellular monovalent inorganic cation homeostasis | 31/3467 | 103/18723 | 2.94e-03 | 2.27e-02 | 31 |
GO:00073461 | Colorectum | MSS | regulation of mitotic cell cycle | 108/3467 | 457/18723 | 3.30e-03 | 2.50e-02 | 108 |
GO:0022898 | Colorectum | MSS | regulation of transmembrane transporter activity | 70/3467 | 278/18723 | 3.36e-03 | 2.54e-02 | 70 |
GO:00424901 | Colorectum | MSS | mechanoreceptor differentiation | 22/3467 | 67/18723 | 3.57e-03 | 2.64e-02 | 22 |
GO:00435422 | Colorectum | MSS | endothelial cell migration | 70/3467 | 279/18723 | 3.69e-03 | 2.71e-02 | 70 |
GO:00510511 | Colorectum | MSS | negative regulation of transport | 110/3467 | 470/18723 | 4.20e-03 | 3.04e-02 | 110 |
GO:00020931 | Colorectum | MSS | auditory receptor cell morphogenesis | 8/3467 | 16/18723 | 4.27e-03 | 3.04e-02 | 8 |
GO:00306412 | Colorectum | MSS | regulation of cellular pH | 25/3467 | 81/18723 | 4.97e-03 | 3.46e-02 | 25 |
GO:00070972 | Colorectum | MSS | nuclear migration | 9/3467 | 20/18723 | 5.90e-03 | 3.98e-02 | 9 |
GO:00485681 | Colorectum | MSS | embryonic organ development | 100/3467 | 427/18723 | 6.00e-03 | 4.03e-02 | 100 |
GO:00099131 | Colorectum | MSS | epidermal cell differentiation | 52/3467 | 202/18723 | 6.59e-03 | 4.38e-02 | 52 |
GO:0060113 | Colorectum | MSS | inner ear receptor cell differentiation | 20/3467 | 62/18723 | 6.63e-03 | 4.38e-02 | 20 |
GO:0032412 | Colorectum | MSS | regulation of ion transmembrane transporter activity | 66/3467 | 267/18723 | 6.72e-03 | 4.38e-02 | 66 |
GO:00101551 | Colorectum | MSS | regulation of proton transport | 10/3467 | 24/18723 | 7.25e-03 | 4.63e-02 | 10 |
GO:00516472 | Colorectum | MSS | nucleus localization | 10/3467 | 24/18723 | 7.25e-03 | 4.63e-02 | 10 |
Pathway ID | Tissue | Disease Stage | Description | Gene Ratio | Bg Ratio | pvalue | p.adjust | qvalue | Count |
hsa05020 | Colorectum | AD | Prion disease | 133/2092 | 273/8465 | 2.47e-18 | 8.29e-17 | 5.29e-17 | 133 |
hsa05171 | Colorectum | AD | Coronavirus disease - COVID-19 | 113/2092 | 232/8465 | 9.90e-16 | 2.55e-14 | 1.63e-14 | 113 |
hsa04810 | Colorectum | AD | Regulation of actin cytoskeleton | 75/2092 | 229/8465 | 3.36e-03 | 1.76e-02 | 1.12e-02 | 75 |
hsa050201 | Colorectum | AD | Prion disease | 133/2092 | 273/8465 | 2.47e-18 | 8.29e-17 | 5.29e-17 | 133 |
hsa051711 | Colorectum | AD | Coronavirus disease - COVID-19 | 113/2092 | 232/8465 | 9.90e-16 | 2.55e-14 | 1.63e-14 | 113 |
hsa048101 | Colorectum | AD | Regulation of actin cytoskeleton | 75/2092 | 229/8465 | 3.36e-03 | 1.76e-02 | 1.12e-02 | 75 |
hsa050202 | Colorectum | SER | Prion disease | 119/1580 | 273/8465 | 4.61e-22 | 3.06e-20 | 2.22e-20 | 119 |
hsa048102 | Colorectum | SER | Regulation of actin cytoskeleton | 60/1580 | 229/8465 | 2.74e-03 | 2.02e-02 | 1.47e-02 | 60 |
hsa050203 | Colorectum | SER | Prion disease | 119/1580 | 273/8465 | 4.61e-22 | 3.06e-20 | 2.22e-20 | 119 |
hsa048103 | Colorectum | SER | Regulation of actin cytoskeleton | 60/1580 | 229/8465 | 2.74e-03 | 2.02e-02 | 1.47e-02 | 60 |
hsa050204 | Colorectum | MSS | Prion disease | 129/1875 | 273/8465 | 1.04e-20 | 5.00e-19 | 3.06e-19 | 129 |
hsa051714 | Colorectum | MSS | Coronavirus disease - COVID-19 | 108/1875 | 232/8465 | 6.50e-17 | 1.67e-15 | 1.03e-15 | 108 |
hsa048104 | Colorectum | MSS | Regulation of actin cytoskeleton | 68/1875 | 229/8465 | 4.27e-03 | 1.86e-02 | 1.14e-02 | 68 |
hsa050205 | Colorectum | MSS | Prion disease | 129/1875 | 273/8465 | 1.04e-20 | 5.00e-19 | 3.06e-19 | 129 |
hsa051715 | Colorectum | MSS | Coronavirus disease - COVID-19 | 108/1875 | 232/8465 | 6.50e-17 | 1.67e-15 | 1.03e-15 | 108 |
hsa048105 | Colorectum | MSS | Regulation of actin cytoskeleton | 68/1875 | 229/8465 | 4.27e-03 | 1.86e-02 | 1.14e-02 | 68 |
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 |
C9 | SNV | Missense_Mutation | | c.706N>C | p.Asn236His | p.N236H | P02748 | protein_coding | deleterious(0.03) | benign(0.005) | TCGA-A2-A0EW-01 | Breast | breast invasive carcinoma | Female | <65 | III/IV | Chemotherapy | adriamycin | PD |
C9 | SNV | Missense_Mutation | novel | c.1150N>A | p.His384Asn | p.H384N | P02748 | protein_coding | tolerated(1) | benign(0) | TCGA-AN-A046-01 | Breast | breast invasive carcinoma | Female | >=65 | I/II | Unknown | Unknown | SD |
C9 | SNV | Missense_Mutation | novel | c.1483N>C | p.Glu495Gln | p.E495Q | P02748 | protein_coding | deleterious(0.03) | probably_damaging(0.989) | TCGA-BH-A0B0-01 | Breast | breast invasive carcinoma | Female | <65 | I/II | Chemotherapy | adriamycin | CR |
C9 | SNV | Missense_Mutation | | c.1280C>T | p.Ser427Leu | p.S427L | P02748 | protein_coding | deleterious(0.02) | possibly_damaging(0.879) | TCGA-BH-A2L8-01 | Breast | breast invasive carcinoma | Female | <65 | I/II | Chemotherapy | cytoxan | CR |
C9 | SNV | Missense_Mutation | | c.163N>T | p.Asp55Tyr | p.D55Y | P02748 | protein_coding | deleterious(0.02) | probably_damaging(0.996) | TCGA-PE-A5DE-01 | Breast | breast invasive carcinoma | Female | <65 | I/II | Chemotherapy | taxotere | CR |
C9 | insertion | Frame_Shift_Ins | novel | c.6_7insT | p.Ala3CysfsTer26 | p.A3Cfs*26 | P02748 | protein_coding | | | TCGA-A2-A04V-01 | Breast | breast invasive carcinoma | Female | <65 | I/II | Chemotherapy | cytoxan | PD |
C9 | insertion | In_Frame_Ins | novel | c.5_6insCTGGGACTACCATAACAAAGCACCACAAGCTGG | p.Ser2_Ala3insTrpAspTyrHisAsnLysAlaProGlnAlaGly | p.S2_A3insWDYHNKAPQAG | P02748 | protein_coding | | | TCGA-A2-A04V-01 | Breast | breast invasive carcinoma | Female | <65 | I/II | Chemotherapy | cytoxan | PD |
C9 | deletion | Frame_Shift_Del | | c.1481delN | p.Leu494TrpfsTer14 | p.L494Wfs*14 | P02748 | protein_coding | | | TCGA-AO-A03V-01 | Breast | breast invasive carcinoma | Female | <65 | I/II | Chemotherapy | fluorouracil | SD |
C9 | insertion | Nonsense_Mutation | novel | c.122_123insGTGAGGATGCTGAGGATGACTGCGGAA | p.Ile41delinsMetTerGlyCysTerGlyTerLeuArgLys | p.I41delinsM*GC*G*LRK | P02748 | protein_coding | | | TCGA-BH-A0HK-01 | Breast | breast invasive carcinoma | Female | >=65 | I/II | Hormone Therapy | arimidex | SD |
C9 | SNV | Missense_Mutation | novel | c.1294G>A | p.Gly432Arg | p.G432R | P02748 | protein_coding | deleterious(0) | probably_damaging(1) | TCGA-C5-A8XI-01 | Cervix | cervical & endocervical cancer | Female | >=65 | I/II | Chemotherapy | cisplatin | SD |