GO ID | Tissue | Disease Stage | Description | Gene Ratio | Bg Ratio | pvalue | p.adjust | Count |
GO:007180611 | Liver | HCC | protein transmembrane transport | 47/7958 | 59/18723 | 5.82e-09 | 1.51e-07 | 47 |
GO:006500211 | Liver | HCC | intracellular protein transmembrane transport | 41/7958 | 51/18723 | 3.41e-08 | 7.61e-07 | 41 |
GO:003424921 | Liver | HCC | negative regulation of cellular amide metabolic process | 144/7958 | 273/18723 | 3.80e-04 | 2.61e-03 | 144 |
GO:0008643 | Liver | HCC | carbohydrate transport | 80/7958 | 152/18723 | 7.34e-03 | 2.92e-02 | 80 |
GO:00718068 | Oral cavity | OSCC | protein transmembrane transport | 43/7305 | 59/18723 | 1.32e-07 | 2.22e-06 | 43 |
GO:00650025 | Oral cavity | OSCC | intracellular protein transmembrane transport | 36/7305 | 51/18723 | 4.79e-06 | 5.47e-05 | 36 |
GO:00429873 | Oral cavity | OSCC | amyloid precursor protein catabolic process | 40/7305 | 68/18723 | 7.28e-04 | 3.98e-03 | 40 |
GO:00429823 | Oral cavity | OSCC | amyloid precursor protein metabolic process | 52/7305 | 95/18723 | 1.33e-03 | 6.62e-03 | 52 |
GO:00342495 | Oral cavity | OSCC | negative regulation of cellular amide metabolic process | 130/7305 | 273/18723 | 2.20e-03 | 1.00e-02 | 130 |
GO:00504353 | Oral cavity | OSCC | amyloid-beta metabolic process | 36/7305 | 67/18723 | 1.01e-02 | 3.51e-02 | 36 |
GO:00342052 | Oral cavity | OSCC | amyloid-beta formation | 31/7305 | 57/18723 | 1.32e-02 | 4.38e-02 | 31 |
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 |
RTN2 | SNV | Missense_Mutation | novel | c.341N>A | p.Ser114Asn | p.S114N | O75298 | protein_coding | deleterious_low_confidence(0) | probably_damaging(0.954) | TCGA-A5-A1OF-01 | Endometrium | uterine corpus endometrioid carcinoma | Female | <65 | I/II | Unknown | Unknown | SD |
RTN2 | SNV | Missense_Mutation | novel | c.112C>T | p.His38Tyr | p.H38Y | O75298 | protein_coding | deleterious_low_confidence(0) | possibly_damaging(0.716) | TCGA-AJ-A3BG-01 | Endometrium | uterine corpus endometrioid carcinoma | Female | >=65 | I/II | Chemotherapy | carboplatin | PD |
RTN2 | SNV | Missense_Mutation | | c.748N>T | p.Pro250Ser | p.P250S | O75298 | protein_coding | deleterious_low_confidence(0.03) | probably_damaging(0.994) | TCGA-AP-A051-01 | Endometrium | uterine corpus endometrioid carcinoma | Female | >=65 | I/II | Unknown | Unknown | SD |
RTN2 | SNV | Missense_Mutation | | c.551N>A | p.Ala184Asp | p.A184D | O75298 | protein_coding | tolerated_low_confidence(0.12) | possibly_damaging(0.638) | TCGA-AP-A051-01 | Endometrium | uterine corpus endometrioid carcinoma | Female | >=65 | I/II | Unknown | Unknown | SD |
RTN2 | SNV | Missense_Mutation | novel | c.1056G>T | p.Lys352Asn | p.K352N | O75298 | protein_coding | deleterious(0) | probably_damaging(0.96) | TCGA-AP-A1DK-01 | Endometrium | uterine corpus endometrioid carcinoma | Female | <65 | I/II | Unknown | Unknown | SD |
RTN2 | SNV | Missense_Mutation | novel | c.230G>A | p.Gly77Asp | p.G77D | O75298 | protein_coding | deleterious_low_confidence(0.01) | benign(0.425) | TCGA-AP-A1DK-01 | Endometrium | uterine corpus endometrioid carcinoma | Female | <65 | I/II | Unknown | Unknown | SD |
RTN2 | SNV | Missense_Mutation | | c.791T>G | p.Phe264Cys | p.F264C | O75298 | protein_coding | tolerated_low_confidence(0.06) | benign(0.436) | TCGA-AX-A0J0-01 | Endometrium | uterine corpus endometrioid carcinoma | Female | <65 | I/II | Unknown | Unknown | SD |
RTN2 | SNV | Missense_Mutation | novel | c.764G>C | p.Cys255Ser | p.C255S | O75298 | protein_coding | tolerated_low_confidence(0.07) | benign(0.003) | TCGA-AX-A1CE-01 | Endometrium | uterine corpus endometrioid carcinoma | Female | <65 | I/II | Unspecific | Paclitaxel | SD |
RTN2 | SNV | Missense_Mutation | novel | c.1281N>T | p.Gln427His | p.Q427H | O75298 | protein_coding | deleterious(0.01) | probably_damaging(0.996) | TCGA-AX-A2HC-01 | Endometrium | uterine corpus endometrioid carcinoma | Female | <65 | III/IV | Chemotherapy | paclitaxel | PD |
RTN2 | SNV | Missense_Mutation | | c.251N>A | p.Arg84His | p.R84H | O75298 | protein_coding | deleterious_low_confidence(0) | possibly_damaging(0.902) | TCGA-AX-A2HD-01 | Endometrium | uterine corpus endometrioid carcinoma | Female | >=65 | III/IV | Unknown | Unknown | SD |