Tissue | Expression Dynamics | Abbreviation |
Endometrium | | AEH: Atypical endometrial hyperplasia |
EEC: Endometrioid Cancer |
Esophagus | | ESCC: Esophageal squamous cell carcinoma |
HGIN: High-grade intraepithelial neoplasias |
LGIN: Low-grade intraepithelial neoplasias |
Liver | | HCC: Hepatocellular carcinoma |
NAFLD: Non-alcoholic fatty liver disease |
Oral Cavity | | EOLP: Erosive Oral lichen planus |
LP: leukoplakia |
NEOLP: Non-erosive oral lichen planus |
OSCC: Oral squamous cell carcinoma |
Thyroid | | ATC: Anaplastic thyroid cancer |
HT: Hashimoto's thyroiditis |
PTC: Papillary thyroid cancer |
GO ID | Tissue | Disease Stage | Description | Gene Ratio | Bg Ratio | pvalue | p.adjust | Count |
GO:001049816 | Endometrium | AEH | proteasomal protein catabolic process | 108/2100 | 490/18723 | 2.73e-12 | 4.67e-10 | 108 |
GO:004316116 | Endometrium | AEH | proteasome-mediated ubiquitin-dependent protein catabolic process | 88/2100 | 412/18723 | 1.54e-09 | 1.36e-07 | 88 |
GO:00709367 | Endometrium | AEH | protein K48-linked ubiquitination | 21/2100 | 65/18723 | 4.56e-06 | 1.18e-04 | 21 |
GO:00096159 | Endometrium | AEH | response to virus | 63/2100 | 367/18723 | 3.81e-04 | 4.10e-03 | 63 |
GO:00002098 | Endometrium | AEH | protein polyubiquitination | 44/2100 | 236/18723 | 4.83e-04 | 4.97e-03 | 44 |
GO:001049817 | Endometrium | EEC | proteasomal protein catabolic process | 112/2168 | 490/18723 | 6.99e-13 | 1.40e-10 | 112 |
GO:004316117 | Endometrium | EEC | proteasome-mediated ubiquitin-dependent protein catabolic process | 92/2168 | 412/18723 | 3.01e-10 | 3.23e-08 | 92 |
GO:007093614 | Endometrium | EEC | protein K48-linked ubiquitination | 22/2168 | 65/18723 | 1.92e-06 | 5.79e-05 | 22 |
GO:000961513 | Endometrium | EEC | response to virus | 66/2168 | 367/18723 | 1.78e-04 | 2.20e-03 | 66 |
GO:000020913 | Endometrium | EEC | protein polyubiquitination | 46/2168 | 236/18723 | 2.65e-04 | 3.04e-03 | 46 |
GO:0010498111 | Esophagus | ESCC | proteasomal protein catabolic process | 369/8552 | 490/18723 | 1.13e-41 | 1.80e-38 | 369 |
GO:0043161111 | Esophagus | ESCC | proteasome-mediated ubiquitin-dependent protein catabolic process | 312/8552 | 412/18723 | 3.53e-36 | 4.48e-33 | 312 |
GO:000020917 | Esophagus | ESCC | protein polyubiquitination | 170/8552 | 236/18723 | 1.40e-16 | 1.09e-14 | 170 |
GO:000961518 | Esophagus | ESCC | response to virus | 238/8552 | 367/18723 | 6.65e-14 | 3.32e-12 | 238 |
GO:007093617 | Esophagus | ESCC | protein K48-linked ubiquitination | 55/8552 | 65/18723 | 8.42e-11 | 2.58e-09 | 55 |
GO:00516075 | Esophagus | ESCC | defense response to virus | 171/8552 | 265/18723 | 3.91e-10 | 1.05e-08 | 171 |
GO:01405465 | Esophagus | ESCC | defense response to symbiont | 171/8552 | 265/18723 | 3.91e-10 | 1.05e-08 | 171 |
GO:00028318 | Esophagus | ESCC | regulation of response to biotic stimulus | 191/8552 | 327/18723 | 2.12e-06 | 2.45e-05 | 191 |
GO:00326084 | Esophagus | ESCC | interferon-beta production | 40/8552 | 56/18723 | 8.36e-05 | 6.08e-04 | 40 |
GO:00326484 | Esophagus | ESCC | regulation of interferon-beta production | 40/8552 | 56/18723 | 8.36e-05 | 6.08e-04 | 40 |
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 |
RNF216 | SNV | Missense_Mutation | novel | c.2129N>C | p.Glu710Ala | p.E710A | Q9NWF9 | protein_coding | deleterious(0) | probably_damaging(0.959) | TCGA-A2-A0ER-01 | Breast | breast invasive carcinoma | Female | <65 | I/II | Chemotherapy | cytoxan | SD |
RNF216 | SNV | Missense_Mutation | | c.1771N>T | p.His591Tyr | p.H591Y | Q9NWF9 | protein_coding | deleterious(0) | probably_damaging(0.999) | TCGA-A8-A0A7-01 | Breast | breast invasive carcinoma | Female | <65 | I/II | Unknown | Unknown | SD |
RNF216 | SNV | Missense_Mutation | novel | c.1430N>T | p.Pro477Leu | p.P477L | Q9NWF9 | protein_coding | deleterious(0.03) | probably_damaging(0.927) | TCGA-BH-A0WA-01 | Breast | breast invasive carcinoma | Female | >=65 | I/II | Unknown | Unknown | SD |
RNF216 | SNV | Missense_Mutation | novel | c.2725N>A | p.His909Asn | p.H909N | Q9NWF9 | protein_coding | deleterious(0.02) | possibly_damaging(0.889) | TCGA-E9-A1R6-01 | Breast | breast invasive carcinoma | Female | <65 | I/II | Hormone Therapy | tamoxiphen | SD |
RNF216 | SNV | Missense_Mutation | | c.1165N>C | p.Glu389Gln | p.E389Q | Q9NWF9 | protein_coding | deleterious(0.04) | probably_damaging(0.973) | TCGA-GM-A2DH-01 | Breast | breast invasive carcinoma | Female | <65 | I/II | Chemotherapy | taxol | CR |
RNF216 | insertion | Nonsense_Mutation | novel | c.2127_2128insTTCTCTTCTCTCATAACAATCTAGCCTTACCATGCA | p.Ala709_Glu710insPheSerSerLeuIleThrIleTerProTyrHisAla | p.A709_E710insFSSLITI*PYHA | Q9NWF9 | protein_coding | | | TCGA-A2-A0ER-01 | Breast | breast invasive carcinoma | Female | <65 | I/II | Chemotherapy | cytoxan | SD |
RNF216 | insertion | In_Frame_Ins | novel | c.683_684insTCTTAC | p.Cys228_Trp229insLeuThr | p.C228_W229insLT | Q9NWF9 | protein_coding | | | TCGA-A8-A06P-01 | Breast | breast invasive carcinoma | Female | <65 | III/IV | Unspecific | | SD |
RNF216 | insertion | Nonsense_Mutation | novel | c.682_683insAGCTCCTTGTGGCTGTTTACATTTAAAT | p.Cys228Ter | p.C228* | Q9NWF9 | protein_coding | | | TCGA-A8-A06P-01 | Breast | breast invasive carcinoma | Female | <65 | III/IV | Unspecific | | SD |
RNF216 | insertion | Nonsense_Mutation | novel | c.2180_2181insTAACAGCCACCCCTAATAATCAAATAAATGGAAATGAAAAT | p.Arg728AsnfsTer5 | p.R728Nfs*5 | Q9NWF9 | protein_coding | | | TCGA-AN-A041-01 | Breast | breast invasive carcinoma | Female | <65 | I/II | Unknown | Unknown | SD |
RNF216 | deletion | Frame_Shift_Del | novel | c.927delN | p.Glu310SerfsTer27 | p.E310Sfs*27 | Q9NWF9 | protein_coding | | | TCGA-D8-A27V-01 | Breast | breast invasive carcinoma | Female | <65 | I/II | Hormone Therapy | tamoxiphen | SD |