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:00302167 | Esophagus | ESCC | keratinocyte differentiation | 86/8552 | 139/18723 | 8.53e-05 | 6.19e-04 | 86 |
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:000854416 | Oral cavity | LP | epidermis development | 112/4623 | 324/18723 | 3.81e-05 | 5.61e-04 | 112 |
GO:004358816 | Oral cavity | LP | skin development | 93/4623 | 263/18723 | 6.47e-05 | 8.70e-04 | 93 |
GO:003021613 | Oral cavity | LP | keratinocyte differentiation | 51/4623 | 139/18723 | 1.05e-03 | 8.84e-03 | 51 |
GO:000991315 | Oral cavity | LP | epidermal cell differentiation | 69/4623 | 202/18723 | 1.53e-03 | 1.19e-02 | 69 |
GO:000854424 | Oral cavity | EOLP | epidermis development | 64/2218 | 324/18723 | 2.48e-05 | 3.68e-04 | 64 |
GO:003021621 | Oral cavity | EOLP | keratinocyte differentiation | 32/2218 | 139/18723 | 1.52e-04 | 1.62e-03 | 32 |
GO:000991323 | Oral cavity | EOLP | epidermal cell differentiation | 39/2218 | 202/18723 | 1.38e-03 | 9.56e-03 | 39 |
GO:004358822 | Oral cavity | EOLP | skin development | 48/2218 | 263/18723 | 1.49e-03 | 1.01e-02 | 48 |
GO:003021631 | Oral cavity | NEOLP | keratinocyte differentiation | 32/2005 | 139/18723 | 2.16e-05 | 3.57e-04 | 32 |
GO:000854431 | Oral cavity | NEOLP | epidermis development | 57/2005 | 324/18723 | 1.13e-04 | 1.35e-03 | 57 |
GO:004358831 | Oral cavity | NEOLP | skin development | 48/2005 | 263/18723 | 1.56e-04 | 1.77e-03 | 48 |
GO:000991331 | Oral cavity | NEOLP | epidermal cell differentiation | 38/2005 | 202/18723 | 3.92e-04 | 3.64e-03 | 38 |
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 |
SPRR2E | SNV | Missense_Mutation | novel | c.131N>T | p.Pro44Leu | p.P44L | P22531 | protein_coding | deleterious_low_confidence(0) | benign(0.158) | TCGA-ZJ-AAXD-01 | Cervix | cervical & endocervical cancer | Female | <65 | III/IV | Unknown | Unknown | SD |
SPRR2E | insertion | Frame_Shift_Ins | novel | c.119_120insCTTGCTCTTGG | p.Lys40AsnfsTer22 | p.K40Nfs*22 | P22531 | protein_coding | | | TCGA-AM-5820-01 | Colorectum | colon adenocarcinoma | Female | <65 | I/II | Unknown | Unknown | SD |
SPRR2E | SNV | Missense_Mutation | | c.210G>T | p.Lys70Asn | p.K70N | P22531 | protein_coding | deleterious_low_confidence(0) | benign(0.161) | TCGA-B5-A0JY-01 | Endometrium | uterine corpus endometrioid carcinoma | Female | <65 | III/IV | Chemotherapy | doxorubicin | SD |
SPRR2E | insertion | Frame_Shift_Ins | novel | c.70_71insAGGGA | p.Pro24GlnfsTer36 | p.P24Qfs*36 | P22531 | protein_coding | | | TCGA-D1-A102-01 | Endometrium | uterine corpus endometrioid carcinoma | Female | <65 | I/II | Unknown | Unknown | SD |
SPRR2E | SNV | Missense_Mutation | | c.100G>A | p.Glu34Lys | p.E34K | P22531 | protein_coding | tolerated_low_confidence(0.08) | benign(0.125) | TCGA-DD-A4ND-01 | Liver | liver hepatocellular carcinoma | Female | <65 | I/II | Chemotherapy | adriamycin | CR |
SPRR2E | SNV | Missense_Mutation | | c.35N>C | p.Cys12Ser | p.C12S | P22531 | protein_coding | deleterious_low_confidence(0) | probably_damaging(0.994) | TCGA-05-4427-01 | Lung | lung adenocarcinoma | Female | >=65 | I/II | Chemotherapy | cisplatin | CR |
SPRR2E | SNV | Missense_Mutation | | c.88N>A | p.Pro30Thr | p.P30T | P22531 | protein_coding | tolerated_low_confidence(0.3) | benign(0.094) | TCGA-50-5930-01 | Lung | lung adenocarcinoma | Male | <65 | III/IV | Chemotherapy | taxotere | PD |
SPRR2E | SNV | Missense_Mutation | novel | c.109N>G | p.Pro37Ala | p.P37A | P22531 | protein_coding | deleterious_low_confidence(0) | benign(0.081) | TCGA-NJ-A4YQ-01 | Lung | lung adenocarcinoma | Female | >=65 | I/II | Unknown | Unknown | SD |
SPRR2E | SNV | Missense_Mutation | novel | c.37C>A | p.Gln13Lys | p.Q13K | P22531 | protein_coding | tolerated_low_confidence(0.61) | benign(0.007) | TCGA-22-5481-01 | Lung | lung squamous cell carcinoma | Female | >=65 | I/II | Unknown | Unknown | PD |
SPRR2E | SNV | Missense_Mutation | rs753305461 | c.55C>T | p.Pro19Ser | p.P19S | P22531 | protein_coding | tolerated_low_confidence(0.18) | benign(0.071) | TCGA-68-8250-01 | Lung | lung squamous cell carcinoma | Male | >=65 | I/II | Unknown | Unknown | SD |