GO ID | Tissue | Disease Stage | Description | Gene Ratio | Bg Ratio | pvalue | p.adjust | Count |
GO:00435888 | Esophagus | ESCC | skin development | 163/8552 | 263/18723 | 6.48e-08 | 1.14e-06 | 163 |
GO:000854410 | Esophagus | ESCC | epidermis development | 193/8552 | 324/18723 | 2.87e-07 | 4.19e-06 | 193 |
GO:000991310 | Esophagus | ESCC | epidermal cell differentiation | 122/8552 | 202/18723 | 1.69e-05 | 1.51e-04 | 122 |
GO:00456826 | Esophagus | ESCC | regulation of epidermis development | 46/8552 | 65/18723 | 3.65e-05 | 2.97e-04 | 46 |
GO:00302167 | Esophagus | ESCC | keratinocyte differentiation | 86/8552 | 139/18723 | 8.53e-05 | 6.19e-04 | 86 |
GO:00456046 | Esophagus | ESCC | regulation of epidermal cell differentiation | 41/8552 | 58/18723 | 1.00e-04 | 7.10e-04 | 41 |
GO:00456167 | Esophagus | ESCC | regulation of keratinocyte differentiation | 26/8552 | 37/18723 | 2.16e-03 | 9.62e-03 | 26 |
GO:00456841 | Esophagus | ESCC | positive regulation of epidermis development | 23/8552 | 32/18723 | 2.43e-03 | 1.06e-02 | 23 |
GO:00456061 | Esophagus | ESCC | positive regulation of epidermal cell differentiation | 20/8552 | 27/18723 | 2.61e-03 | 1.11e-02 | 20 |
GO:00456181 | Esophagus | ESCC | positive regulation of keratinocyte differentiation | 14/8552 | 19/18723 | 1.27e-02 | 4.21e-02 | 14 |
GO:00435887 | Oral cavity | OSCC | skin development | 143/7305 | 263/18723 | 2.77e-07 | 4.27e-06 | 143 |
GO:00085449 | Oral cavity | OSCC | epidermis development | 171/7305 | 324/18723 | 2.89e-07 | 4.43e-06 | 171 |
GO:00302166 | Oral cavity | OSCC | keratinocyte differentiation | 81/7305 | 139/18723 | 3.16e-06 | 3.81e-05 | 81 |
GO:00099139 | Oral cavity | OSCC | epidermal cell differentiation | 109/7305 | 202/18723 | 1.08e-05 | 1.14e-04 | 109 |
GO:00456825 | Oral cavity | OSCC | regulation of epidermis development | 41/7305 | 65/18723 | 7.29e-05 | 5.73e-04 | 41 |
GO:00456045 | Oral cavity | OSCC | regulation of epidermal cell differentiation | 36/7305 | 58/18723 | 3.15e-04 | 1.96e-03 | 36 |
GO:00456166 | Oral cavity | OSCC | regulation of keratinocyte differentiation | 23/7305 | 37/18723 | 3.66e-03 | 1.51e-02 | 23 |
GO:0045684 | Oral cavity | OSCC | positive regulation of epidermis development | 20/7305 | 32/18723 | 6.05e-03 | 2.28e-02 | 20 |
GO:0045618 | Oral cavity | OSCC | positive regulation of keratinocyte differentiation | 13/7305 | 19/18723 | 9.07e-03 | 3.26e-02 | 13 |
GO:0045606 | Oral cavity | OSCC | positive regulation of epidermal cell differentiation | 17/7305 | 27/18723 | 1.01e-02 | 3.49e-02 | 17 |
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 |
ETV4 | SNV | Missense_Mutation | rs144916436 | c.950N>C | p.Phe317Ser | p.F317S | P43268 | protein_coding | deleterious(0.03) | benign(0.012) | TCGA-EO-A22R-01 | Endometrium | uterine corpus endometrioid carcinoma | Female | <65 | I/II | Unknown | Unknown | SD |
ETV4 | SNV | Missense_Mutation | | c.1296N>A | p.Phe432Leu | p.F432L | P43268 | protein_coding | deleterious(0.01) | probably_damaging(0.985) | TCGA-EY-A1GI-01 | Endometrium | uterine corpus endometrioid carcinoma | Female | <65 | I/II | Unknown | Unknown | SD |
ETV4 | SNV | Missense_Mutation | novel | c.1077N>A | p.Phe359Leu | p.F359L | P43268 | protein_coding | tolerated(0.13) | benign(0.038) | TCGA-EY-A1GI-01 | Endometrium | uterine corpus endometrioid carcinoma | Female | <65 | I/II | Unknown | Unknown | SD |
ETV4 | SNV | Missense_Mutation | novel | c.1353N>T | p.Glu451Asp | p.E451D | P43268 | protein_coding | tolerated(0.29) | probably_damaging(0.991) | TCGA-FI-A2D5-01 | Endometrium | uterine corpus endometrioid carcinoma | Female | <65 | III/IV | Chemotherapy | carboplatinum | PD |
ETV4 | insertion | Frame_Shift_Ins | rs745944421 | c.399_400insC | p.Arg134GlnfsTer49 | p.R134Qfs*49 | P43268 | protein_coding | | | TCGA-EO-A3AU-01 | Endometrium | uterine corpus endometrioid carcinoma | Female | >=65 | I/II | Unknown | Unknown | PD |
ETV4 | SNV | Missense_Mutation | rs780292322 | c.431N>A | p.Gly144Asp | p.G144D | P43268 | protein_coding | tolerated(0.15) | benign(0.368) | TCGA-MF-A522-01 | Lung | lung squamous cell carcinoma | Male | <65 | I/II | Chemotherapy | cisplatin | PD |
ETV4 | SNV | Missense_Mutation | | c.671N>A | p.Ser224Asn | p.S224N | P43268 | protein_coding | deleterious(0.05) | benign(0.001) | TCGA-XK-AAIW-01 | Prostate | prostate adenocarcinoma | Male | >=65 | 9 | Unknown | Unknown | PD |
ETV4 | insertion | In_Frame_Ins | novel | c.455_456insATCATCTCATTCTGTTTTATTTGTTTTTTATTG | p.Gln152_Pro153insSerSerHisSerValLeuPheValPheTyrTrp | p.Q152_P153insSSHSVLFVFYW | P43268 | protein_coding | | | TCGA-CH-5771-01 | Prostate | prostate adenocarcinoma | Male | <65 | 7 | Unknown | Unknown | SD |
ETV4 | SNV | Missense_Mutation | rs746787291 | c.1012N>T | p.Arg338Trp | p.R338W | P43268 | protein_coding | deleterious(0) | probably_damaging(0.999) | TCGA-BR-8382-01 | Stomach | stomach adenocarcinoma | Female | >=65 | III/IV | Unknown | Unknown | SD |
ETV4 | SNV | Missense_Mutation | novel | c.1009N>T | p.Arg337Cys | p.R337C | P43268 | protein_coding | deleterious(0) | probably_damaging(0.999) | TCGA-D7-A6EY-01 | Stomach | stomach adenocarcinoma | Female | >=65 | III/IV | Unknown | Unknown | PD |