GO ID | Tissue | Disease Stage | Description | Gene Ratio | Bg Ratio | pvalue | p.adjust | Count |
GO:000701510 | Cervix | CC | actin filament organization | 109/2311 | 442/18723 | 4.92e-13 | 2.45e-10 | 109 |
GO:005125810 | Cervix | CC | protein polymerization | 70/2311 | 297/18723 | 5.20e-08 | 3.11e-06 | 70 |
GO:00081549 | Cervix | CC | actin polymerization or depolymerization | 51/2311 | 218/18723 | 4.05e-06 | 1.05e-04 | 51 |
GO:00300419 | Cervix | CC | actin filament polymerization | 45/2311 | 191/18723 | 1.20e-05 | 2.54e-04 | 45 |
GO:000701528 | Skin | AK | actin filament organization | 85/1910 | 442/18723 | 5.94e-09 | 4.14e-07 | 85 |
GO:005125827 | Skin | AK | protein polymerization | 53/1910 | 297/18723 | 3.74e-05 | 6.20e-04 | 53 |
GO:000815425 | Skin | AK | actin polymerization or depolymerization | 39/1910 | 218/18723 | 3.56e-04 | 3.54e-03 | 39 |
GO:0051258112 | Skin | cSCC | protein polymerization | 114/4864 | 297/18723 | 1.55e-06 | 2.62e-05 | 114 |
GO:000701529 | Skin | cSCC | actin filament organization | 156/4864 | 442/18723 | 7.37e-06 | 1.02e-04 | 156 |
GO:0008154110 | Skin | cSCC | actin polymerization or depolymerization | 81/4864 | 218/18723 | 1.70e-04 | 1.47e-03 | 81 |
GO:003004124 | Skin | cSCC | actin filament polymerization | 68/4864 | 191/18723 | 1.98e-03 | 1.18e-02 | 68 |
GO:0007015210 | Thyroid | ATC | actin filament organization | 227/6293 | 442/18723 | 5.96e-15 | 3.85e-13 | 227 |
GO:005125829 | Thyroid | ATC | protein polymerization | 159/6293 | 297/18723 | 9.33e-13 | 3.96e-11 | 159 |
GO:0008154111 | Thyroid | ATC | actin polymerization or depolymerization | 119/6293 | 218/18723 | 1.32e-10 | 4.08e-09 | 119 |
GO:0030041111 | Thyroid | ATC | actin filament polymerization | 101/6293 | 191/18723 | 2.91e-08 | 5.50e-07 | 101 |
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 |
DIAPH3 | SNV | Missense_Mutation | novel | c.1729N>T | p.Pro577Ser | p.P577S | Q9NSV4 | protein_coding | tolerated(0.2) | benign(0.005) | TCGA-CN-6996-01 | Oral cavity | head & neck squamous cell carcinoma | Female | <65 | I/II | Chemotherapy | cisplatin | PD |
DIAPH3 | SNV | Missense_Mutation | rs757557320 | c.496N>A | p.Gly166Arg | p.G166R | Q9NSV4 | protein_coding | deleterious(0.01) | benign(0.015) | TCGA-CR-7364-01 | Oral cavity | head & neck squamous cell carcinoma | Male | >=65 | III/IV | Unknown | Unknown | SD |
DIAPH3 | SNV | Missense_Mutation | novel | c.1426N>T | p.Asp476Tyr | p.D476Y | Q9NSV4 | protein_coding | deleterious(0) | probably_damaging(1) | TCGA-CR-7368-01 | Oral cavity | head & neck squamous cell carcinoma | Male | <65 | I/II | Unspecific | | Complete Response |
DIAPH3 | SNV | Missense_Mutation | rs760815388 | c.3124C>T | p.Arg1042Cys | p.R1042C | Q9NSV4 | protein_coding | deleterious(0) | probably_damaging(0.982) | TCGA-CR-7372-01 | Oral cavity | head & neck squamous cell carcinoma | Male | <65 | I/II | Unknown | Unknown | SD |
DIAPH3 | SNV | Missense_Mutation | novel | c.2784N>T | p.Gln928His | p.Q928H | Q9NSV4 | protein_coding | deleterious(0.03) | probably_damaging(0.997) | TCGA-CV-6933-01 | Oral cavity | head & neck squamous cell carcinoma | Male | <65 | III/IV | Unknown | Unknown | SD |
DIAPH3 | SNV | Missense_Mutation | rs760380418 | c.881C>T | p.Ala294Val | p.A294V | Q9NSV4 | protein_coding | deleterious(0.02) | probably_damaging(0.971) | TCGA-CV-7090-01 | Oral cavity | head & neck squamous cell carcinoma | Male | <65 | I/II | Unknown | Unknown | SD |
DIAPH3 | SNV | Missense_Mutation | | c.1832C>A | p.Pro611His | p.P611H | Q9NSV4 | protein_coding | deleterious(0.01) | probably_damaging(0.921) | TCGA-CV-A6K1-01 | Oral cavity | head & neck squamous cell carcinoma | Male | >=65 | I/II | Unknown | Unknown | PD |
DIAPH3 | SNV | Missense_Mutation | rs770872230 | c.1100N>A | p.Arg367His | p.R367H | Q9NSV4 | protein_coding | deleterious(0) | probably_damaging(0.99) | TCGA-D6-A6EK-01 | Oral cavity | head & neck squamous cell carcinoma | Male | >=65 | III/IV | Chemotherapy | cisplatin | PR |
DIAPH3 | SNV | Missense_Mutation | novel | c.35C>T | p.Ala12Val | p.A12V | Q9NSV4 | protein_coding | tolerated_low_confidence(0.11) | benign(0) | TCGA-DQ-5629-01 | Oral cavity | head & neck squamous cell carcinoma | Male | <65 | I/II | Chemotherapy | carboplatin | SD |
DIAPH3 | SNV | Missense_Mutation | rs763170576 | c.1357N>G | p.Ile453Val | p.I453V | Q9NSV4 | protein_coding | tolerated(0.49) | possibly_damaging(0.881) | TCGA-HC-7077-01 | Prostate | prostate adenocarcinoma | Male | <65 | 6 | Unknown | Unknown | SD |