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 | rs143302045 | c.233N>A | p.Arg78His | p.R78H | O75298 | protein_coding | deleterious_low_confidence(0) | probably_damaging(0.965) | TCGA-B5-A11L-01 | Endometrium | uterine corpus endometrioid carcinoma | Female | >=65 | I/II | Unknown | Unknown | PD |
RTN2 | SNV | Missense_Mutation | novel | c.917N>C | p.Val306Ala | p.V306A | O75298 | protein_coding | tolerated_low_confidence(0.13) | benign(0) | TCGA-B5-A1MR-01 | Endometrium | uterine corpus endometrioid carcinoma | Female | >=65 | III/IV | Unknown | Unknown | SD |
RTN2 | SNV | Missense_Mutation | novel | c.701C>A | p.Pro234Gln | p.P234Q | O75298 | protein_coding | deleterious_low_confidence(0) | benign(0.397) | TCGA-B5-A3FC-01 | Endometrium | uterine corpus endometrioid carcinoma | Female | <65 | I/II | Unknown | Unknown | SD |
RTN2 | SNV | Missense_Mutation | novel | c.652N>G | p.Thr218Ala | p.T218A | O75298 | protein_coding | deleterious_low_confidence(0) | benign(0.068) | TCGA-B5-A5OC-01 | Endometrium | uterine corpus endometrioid carcinoma | Female | >=65 | III/IV | Chemotherapy | cisplatin | SD |
RTN2 | SNV | Missense_Mutation | novel | c.1609G>A | p.Val537Ile | p.V537I | O75298 | protein_coding | deleterious_low_confidence(0) | benign(0.209) | TCGA-D1-A1NZ-01 | Endometrium | uterine corpus endometrioid carcinoma | Female | <65 | I/II | Unknown | Unknown | SD |
RTN2 | SNV | Missense_Mutation | | c.236G>T | p.Arg79Met | p.R79M | O75298 | protein_coding | deleterious_low_confidence(0) | possibly_damaging(0.847) | TCGA-EC-A24G-01 | Endometrium | uterine corpus endometrioid carcinoma | Female | <65 | I/II | Chemotherapy | doxorubicin | SD |
RTN2 | SNV | Missense_Mutation | | c.277N>C | p.Val93Leu | p.V93L | O75298 | protein_coding | deleterious_low_confidence(0.02) | benign(0.048) | TCGA-EO-A3AV-01 | Endometrium | uterine corpus endometrioid carcinoma | Female | <65 | III/IV | Chemotherapy | carboplatin | CR |
RTN2 | SNV | Missense_Mutation | novel | c.790N>C | p.Phe264Leu | p.F264L | O75298 | protein_coding | deleterious_low_confidence(0.03) | benign(0.01) | TCGA-EY-A1GI-01 | Endometrium | uterine corpus endometrioid carcinoma | Female | <65 | I/II | Unknown | Unknown | SD |
RTN2 | SNV | Missense_Mutation | novel | c.674N>A | p.Arg225Gln | p.R225Q | O75298 | protein_coding | tolerated_low_confidence(0.29) | benign(0.018) | TCGA-FI-A2D5-01 | Endometrium | uterine corpus endometrioid carcinoma | Female | <65 | III/IV | Chemotherapy | carboplatinum | PD |
RTN2 | SNV | Missense_Mutation | rs576904361 | c.122G>A | p.Arg41Gln | p.R41Q | O75298 | protein_coding | deleterious_low_confidence(0) | probably_damaging(0.991) | TCGA-SJ-A6ZI-01 | Endometrium | uterine corpus endometrioid carcinoma | Female | <65 | I/II | Unknown | Unknown | SD |