GO ID | Tissue | Disease Stage | Description | Gene Ratio | Bg Ratio | pvalue | p.adjust | Count |
GO:003812718 | Esophagus | ESCC | ERBB signaling pathway | 82/8552 | 121/18723 | 7.23e-07 | 9.40e-06 | 82 |
GO:000717318 | Esophagus | ESCC | epidermal growth factor receptor signaling pathway | 73/8552 | 108/18723 | 3.36e-06 | 3.73e-05 | 73 |
GO:190118413 | Esophagus | ESCC | regulation of ERBB signaling pathway | 54/8552 | 79/18723 | 3.81e-05 | 3.08e-04 | 54 |
GO:00420588 | Esophagus | ESCC | regulation of epidermal growth factor receptor signaling pathway | 50/8552 | 73/18723 | 6.75e-05 | 5.12e-04 | 50 |
GO:00507775 | Esophagus | ESCC | negative regulation of immune response | 112/8552 | 194/18723 | 4.67e-04 | 2.62e-03 | 112 |
GO:000268316 | Esophagus | ESCC | negative regulation of immune system process | 231/8552 | 434/18723 | 8.48e-04 | 4.36e-03 | 231 |
GO:00512244 | Esophagus | ESCC | negative regulation of protein transport | 74/8552 | 127/18723 | 2.86e-03 | 1.21e-02 | 74 |
GO:19049505 | Esophagus | ESCC | negative regulation of establishment of protein localization | 76/8552 | 131/18723 | 2.96e-03 | 1.24e-02 | 76 |
GO:000930617 | Esophagus | ESCC | protein secretion | 190/8552 | 359/18723 | 3.22e-03 | 1.34e-02 | 190 |
GO:003559217 | Esophagus | ESCC | establishment of protein localization to extracellular region | 190/8552 | 360/18723 | 3.77e-03 | 1.53e-02 | 190 |
GO:007169210 | Esophagus | ESCC | protein localization to extracellular region | 193/8552 | 368/18723 | 5.01e-03 | 1.92e-02 | 193 |
GO:005070810 | Esophagus | ESCC | regulation of protein secretion | 142/8552 | 268/18723 | 9.31e-03 | 3.24e-02 | 142 |
GO:003812711 | Liver | Cirrhotic | ERBB signaling pathway | 46/4634 | 121/18723 | 8.08e-04 | 5.93e-03 | 46 |
GO:19049502 | Liver | Cirrhotic | negative regulation of establishment of protein localization | 49/4634 | 131/18723 | 8.50e-04 | 6.15e-03 | 49 |
GO:0051224 | Liver | Cirrhotic | negative regulation of protein transport | 47/4634 | 127/18723 | 1.39e-03 | 9.27e-03 | 47 |
GO:00510514 | Liver | Cirrhotic | negative regulation of transport | 141/4634 | 470/18723 | 5.06e-03 | 2.62e-02 | 141 |
GO:000717311 | Liver | Cirrhotic | epidermal growth factor receptor signaling pathway | 39/4634 | 108/18723 | 5.49e-03 | 2.79e-02 | 39 |
GO:003812721 | Liver | HCC | ERBB signaling pathway | 73/7958 | 121/18723 | 5.65e-05 | 5.26e-04 | 73 |
GO:000717321 | Liver | HCC | epidermal growth factor receptor signaling pathway | 65/7958 | 108/18723 | 1.56e-04 | 1.25e-03 | 65 |
GO:19011844 | Liver | HCC | regulation of ERBB signaling pathway | 47/7958 | 79/18723 | 1.71e-03 | 8.91e-03 | 47 |
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 |
RHBDF2 | SNV | Missense_Mutation | novel | c.1742N>A | p.Ala581Asp | p.A581D | Q6PJF5 | protein_coding | tolerated(0.57) | benign(0) | TCGA-NJ-A4YF-01 | Lung | lung adenocarcinoma | Female | <65 | I/II | Unknown | Unknown | SD |
RHBDF2 | SNV | Missense_Mutation | novel | c.2480N>T | p.Pro827Leu | p.P827L | Q6PJF5 | protein_coding | deleterious(0.03) | probably_damaging(0.991) | TCGA-21-1079-01 | Lung | lung squamous cell carcinoma | Male | >=65 | III/IV | Unknown | Unknown | PD |
RHBDF2 | SNV | Missense_Mutation | rs373646969 | c.589N>T | p.Arg197Cys | p.R197C | Q6PJF5 | protein_coding | deleterious(0) | probably_damaging(1) | TCGA-22-4595-01 | Lung | lung squamous cell carcinoma | Male | <65 | III/IV | Chemotherapy | alimta | PD |
RHBDF2 | SNV | Missense_Mutation | novel | c.360N>T | p.Lys120Asn | p.K120N | Q6PJF5 | protein_coding | deleterious(0) | benign(0.244) | TCGA-56-7731-01 | Lung | lung squamous cell carcinoma | Female | >=65 | I/II | Unknown | Unknown | SD |
RHBDF2 | SNV | Missense_Mutation | | c.95N>A | p.Pro32Gln | p.P32Q | Q6PJF5 | protein_coding | deleterious_low_confidence(0) | probably_damaging(1) | TCGA-66-2789-01 | Lung | lung squamous cell carcinoma | Male | >=65 | III/IV | Unknown | Unknown | SD |
RHBDF2 | SNV | Missense_Mutation | novel | c.1636N>T | p.Gly546Trp | p.G546W | Q6PJF5 | protein_coding | deleterious(0) | probably_damaging(0.987) | TCGA-77-6842-01 | Lung | lung squamous cell carcinoma | Male | >=65 | I/II | Unknown | Unknown | PD |
RHBDF2 | SNV | Missense_Mutation | novel | c.1151G>A | p.Arg384His | p.R384H | Q6PJF5 | protein_coding | deleterious(0.05) | benign(0.071) | TCGA-85-A53L-01 | Lung | lung squamous cell carcinoma | Male | <65 | I/II | Unknown | Unknown | SD |
RHBDF2 | SNV | Missense_Mutation | novel | c.1273N>G | p.Ile425Val | p.I425V | Q6PJF5 | protein_coding | tolerated(0.16) | benign(0.005) | TCGA-NK-A5CR-01 | Lung | lung squamous cell carcinoma | Male | >=65 | I/II | Unknown | Unknown | SD |
RHBDF2 | deletion | Frame_Shift_Del | | c.2130delN | p.Leu712SerfsTer205 | p.L712Sfs*205 | Q6PJF5 | protein_coding | | | TCGA-55-A492-01 | Lung | lung adenocarcinoma | Female | >=65 | I/II | Unknown | Unknown | SD |
RHBDF2 | SNV | Missense_Mutation | novel | c.976C>T | p.Pro326Ser | p.P326S | Q6PJF5 | protein_coding | tolerated(0.32) | benign(0.009) | TCGA-CN-5360-01 | Oral cavity | head & neck squamous cell carcinoma | Male | >=65 | I/II | Chemotherapy | cisplatin | SD |