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 | | c.1600A>G | p.Met534Val | p.M534V | Q6PJF5 | protein_coding | tolerated(0.24) | benign(0) | TCGA-A2-A25E-01 | Breast | breast invasive carcinoma | Female | <65 | III/IV | Chemotherapy | cytoxan | PD |
RHBDF2 | SNV | Missense_Mutation | rs776242666 | c.1202N>A | p.Arg401Gln | p.R401Q | Q6PJF5 | protein_coding | deleterious(0) | probably_damaging(1) | TCGA-AO-A128-01 | Breast | breast invasive carcinoma | Female | <65 | I/II | Chemotherapy | doxorubicin | SD |
RHBDF2 | SNV | Missense_Mutation | | c.689N>A | p.Ser230Tyr | p.S230Y | Q6PJF5 | protein_coding | deleterious(0.01) | possibly_damaging(0.835) | TCGA-AR-A251-01 | Breast | breast invasive carcinoma | Female | <65 | III/IV | Chemotherapy | doxorubicin | SD |
RHBDF2 | SNV | Missense_Mutation | | c.922N>C | p.Glu308Gln | p.E308Q | Q6PJF5 | protein_coding | deleterious(0.01) | probably_damaging(0.982) | TCGA-D8-A1JA-01 | Breast | breast invasive carcinoma | Female | <65 | III/IV | Chemotherapy | adriamycin | PD |
RHBDF2 | SNV | Missense_Mutation | rs775956509 | c.1090N>T | p.Arg364Trp | p.R364W | Q6PJF5 | protein_coding | deleterious(0) | probably_damaging(0.929) | TCGA-E2-A1LG-01 | Breast | breast invasive carcinoma | Female | <65 | I/II | Chemotherapy | doxorubicin | SD |
RHBDF2 | SNV | Missense_Mutation | | c.1506N>C | p.Gln502His | p.Q502H | Q6PJF5 | protein_coding | deleterious(0.04) | benign(0.023) | TCGA-GM-A2DO-01 | Breast | breast invasive carcinoma | Female | <65 | I/II | Hormone Therapy | tamoxiphen | CR |
RHBDF2 | insertion | Frame_Shift_Ins | novel | c.1419_1420insCAGTG | p.Ser474GlnfsTer207 | p.S474Qfs*207 | Q6PJF5 | protein_coding | | | TCGA-A8-A09C-01 | Breast | breast invasive carcinoma | Female | >=65 | I/II | Unknown | Unknown | SD |
RHBDF2 | SNV | Missense_Mutation | novel | c.1585G>T | p.Asp529Tyr | p.D529Y | Q6PJF5 | protein_coding | tolerated(0.05) | benign(0.019) | TCGA-FU-A23L-01 | Cervix | cervical & endocervical cancer | Female | <65 | I/II | Chemotherapy | cisplatin | CR |
RHBDF2 | SNV | Missense_Mutation | rs771107433 | c.1537C>T | p.Arg513Trp | p.R513W | Q6PJF5 | protein_coding | deleterious(0) | possibly_damaging(0.753) | TCGA-MA-AA42-01 | Cervix | cervical & endocervical cancer | Female | >=65 | I/II | Unknown | Unknown | SD |
RHBDF2 | SNV | Missense_Mutation | novel | c.148N>A | p.Glu50Lys | p.E50K | Q6PJF5 | protein_coding | tolerated_low_confidence(0.51) | benign(0) | TCGA-VS-A958-01 | Cervix | cervical & endocervical cancer | Female | <65 | I/II | Chemotherapy | cisplatin | CR |