GO ID | Tissue | Disease Stage | Description | Gene Ratio | Bg Ratio | pvalue | p.adjust | Count |
GO:005122412 | Oral cavity | LP | negative regulation of protein transport | 45/4623 | 127/18723 | 4.33e-03 | 2.78e-02 | 45 |
GO:190118412 | Oral cavity | LP | regulation of ERBB signaling pathway | 30/4623 | 79/18723 | 5.97e-03 | 3.54e-02 | 30 |
GO:000268315 | Oral cavity | LP | negative regulation of immune system process | 130/4623 | 434/18723 | 6.70e-03 | 3.90e-02 | 130 |
GO:003812716 | Oral cavity | LP | ERBB signaling pathway | 42/4623 | 121/18723 | 8.53e-03 | 4.61e-02 | 42 |
GO:000268323 | Oral cavity | EOLP | negative regulation of immune system process | 91/2218 | 434/18723 | 3.12e-08 | 1.24e-06 | 91 |
GO:005077721 | Oral cavity | EOLP | negative regulation of immune response | 47/2218 | 194/18723 | 1.10e-06 | 2.71e-05 | 47 |
GO:003812723 | Oral cavity | EOLP | ERBB signaling pathway | 31/2218 | 121/18723 | 2.21e-05 | 3.37e-04 | 31 |
GO:00313482 | Oral cavity | EOLP | negative regulation of defense response | 53/2218 | 258/18723 | 4.05e-05 | 5.54e-04 | 53 |
GO:000717316 | Oral cavity | EOLP | epidermal growth factor receptor signaling pathway | 27/2218 | 108/18723 | 1.14e-04 | 1.27e-03 | 27 |
GO:00321023 | Oral cavity | EOLP | negative regulation of response to external stimulus | 75/2218 | 420/18723 | 1.74e-04 | 1.80e-03 | 75 |
GO:00510517 | Oral cavity | EOLP | negative regulation of transport | 80/2218 | 470/18723 | 5.11e-04 | 4.44e-03 | 80 |
GO:190118422 | Oral cavity | EOLP | regulation of ERBB signaling pathway | 20/2218 | 79/18723 | 7.07e-04 | 5.78e-03 | 20 |
GO:00024371 | Oral cavity | EOLP | inflammatory response to antigenic stimulus | 19/2218 | 74/18723 | 7.90e-04 | 6.26e-03 | 19 |
GO:00507274 | Oral cavity | EOLP | regulation of inflammatory response | 66/2218 | 386/18723 | 1.34e-03 | 9.33e-03 | 66 |
GO:004205812 | Oral cavity | EOLP | regulation of epidermal growth factor receptor signaling pathway | 18/2218 | 73/18723 | 1.77e-03 | 1.16e-02 | 18 |
GO:0002861 | Oral cavity | EOLP | regulation of inflammatory response to antigenic stimulus | 12/2218 | 43/18723 | 3.36e-03 | 1.94e-02 | 12 |
GO:0002862 | Oral cavity | EOLP | negative regulation of inflammatory response to antigenic stimulus | 9/2218 | 29/18723 | 4.94e-03 | 2.62e-02 | 9 |
GO:0050728 | Oral cavity | EOLP | negative regulation of inflammatory response | 33/2218 | 176/18723 | 4.94e-03 | 2.62e-02 | 33 |
GO:000930616 | Oral cavity | EOLP | protein secretion | 59/2218 | 359/18723 | 5.67e-03 | 2.92e-02 | 59 |
GO:003559216 | Oral cavity | EOLP | establishment of protein localization to extracellular region | 59/2218 | 360/18723 | 6.02e-03 | 3.01e-02 | 59 |
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 |