Tissue | Expression Dynamics | Abbreviation |
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 |
Lung | | AAH: Atypical adenomatous hyperplasia |
AIS: Adenocarcinoma in situ |
IAC: Invasive lung adenocarcinoma |
MIA: Minimally invasive adenocarcinoma |
Oral Cavity | | EOLP: Erosive Oral lichen planus |
LP: leukoplakia |
NEOLP: Non-erosive oral lichen planus |
OSCC: Oral squamous cell carcinoma |
Prostate | | BPH: Benign Prostatic Hyperplasia |
Skin | | AK: Actinic keratosis |
cSCC: Cutaneous squamous cell carcinoma |
SCCIS:squamous cell carcinoma in situ |
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:000170119 | Esophagus | ESCC | in utero embryonic development | 243/8552 | 367/18723 | 1.00e-15 | 6.86e-14 | 243 |
GO:00062604 | Esophagus | ESCC | DNA replication | 181/8552 | 260/18723 | 3.55e-15 | 2.05e-13 | 181 |
GO:00062754 | Esophagus | ESCC | regulation of DNA replication | 73/8552 | 107/18723 | 1.97e-06 | 2.28e-05 | 73 |
GO:00352647 | Esophagus | ESCC | multicellular organism growth | 80/8552 | 132/18723 | 3.84e-04 | 2.22e-03 | 80 |
GO:00485687 | Esophagus | ESCC | embryonic organ development | 228/8552 | 427/18723 | 7.28e-04 | 3.79e-03 | 228 |
GO:00017015 | Liver | Cirrhotic | in utero embryonic development | 134/4634 | 367/18723 | 2.78e-07 | 6.86e-06 | 134 |
GO:003526411 | Liver | Cirrhotic | multicellular organism growth | 47/4634 | 132/18723 | 3.40e-03 | 1.89e-02 | 47 |
GO:000170111 | Liver | HCC | in utero embryonic development | 204/7958 | 367/18723 | 2.44e-07 | 4.30e-06 | 204 |
GO:00062601 | Liver | HCC | DNA replication | 146/7958 | 260/18723 | 5.68e-06 | 7.02e-05 | 146 |
GO:00062751 | Liver | HCC | regulation of DNA replication | 60/7958 | 107/18723 | 3.15e-03 | 1.46e-02 | 60 |
GO:003526421 | Liver | HCC | multicellular organism growth | 70/7958 | 132/18723 | 9.29e-03 | 3.57e-02 | 70 |
GO:00017016 | Lung | IAC | in utero embryonic development | 68/2061 | 367/18723 | 1.12e-05 | 3.45e-04 | 68 |
GO:00352644 | Lung | IAC | multicellular organism growth | 25/2061 | 132/18723 | 4.69e-03 | 3.68e-02 | 25 |
GO:00485684 | Lung | IAC | embryonic organ development | 64/2061 | 427/18723 | 6.46e-03 | 4.59e-02 | 64 |
GO:00062603 | Oral cavity | OSCC | DNA replication | 159/7305 | 260/18723 | 3.25e-13 | 1.59e-11 | 159 |
GO:000170116 | Oral cavity | OSCC | in utero embryonic development | 207/7305 | 367/18723 | 7.92e-12 | 2.95e-10 | 207 |
GO:00062753 | Oral cavity | OSCC | regulation of DNA replication | 62/7305 | 107/18723 | 5.49e-05 | 4.54e-04 | 62 |
GO:00352646 | Oral cavity | OSCC | multicellular organism growth | 65/7305 | 132/18723 | 1.06e-02 | 3.60e-02 | 65 |
GO:000170117 | Oral cavity | LP | in utero embryonic development | 142/4623 | 367/18723 | 1.48e-09 | 6.75e-08 | 142 |
GO:000626011 | Oral cavity | LP | DNA replication | 97/4623 | 260/18723 | 3.67e-06 | 7.75e-05 | 97 |
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 |
RBBP6 | SNV | Missense_Mutation | novel | c.2639N>C | p.Arg880Thr | p.R880T | Q7Z6E9 | protein_coding | deleterious_low_confidence(0) | probably_damaging(0.994) | TCGA-C8-A26Y-01 | Breast | breast invasive carcinoma | Female | >=65 | I/II | Unknown | Unknown | SD |
RBBP6 | SNV | Missense_Mutation | novel | c.2057C>A | p.Ser686Tyr | p.S686Y | Q7Z6E9 | protein_coding | deleterious_low_confidence(0) | probably_damaging(0.997) | TCGA-OL-A66P-01 | Breast | breast invasive carcinoma | Female | >=65 | I/II | Chemotherapy | cytoxan | CR |
RBBP6 | insertion | In_Frame_Ins | novel | c.3552_3553insTATCAGGTTCCATTTTGCGCTTTTGTGAAACCATCACCAAAGCGCAAAATG | p.Met1184_Glu1185insTyrGlnValProPheCysAlaPheValLysProSerProLysArgLysMet | p.M1184_E1185insYQVPFCAFVKPSPKRKM | Q7Z6E9 | protein_coding | | | TCGA-A7-A0DB-01 | Breast | breast invasive carcinoma | Female | <65 | I/II | Hormone Therapy | arimidex | SD |
RBBP6 | insertion | Nonsense_Mutation | novel | c.2247_2248insATAATATTACATAAAGTAATCTATTTTGAGGTCTAGTTAT | p.Ser750IlefsTer12 | p.S750Ifs*12 | Q7Z6E9 | protein_coding | | | TCGA-A8-A09Q-01 | Breast | breast invasive carcinoma | Female | >=65 | III/IV | Hormone Therapy | anastrozole | SD |
RBBP6 | insertion | Frame_Shift_Ins | novel | c.1252_1253insAGTGTTACCTGAAAATTTGCTCAAGCCTGCTCTGGCCT | p.Ile418LysfsTer80 | p.I418Kfs*80 | Q7Z6E9 | protein_coding | | | TCGA-AN-A0FX-01 | Breast | breast invasive carcinoma | Female | <65 | I/II | Unknown | Unknown | SD |
RBBP6 | insertion | In_Frame_Ins | novel | c.1950_1951insACTTTT | p.Glu650_Glu651insThrPhe | p.E650_E651insTF | Q7Z6E9 | protein_coding | | | TCGA-AO-A0JF-01 | Breast | breast invasive carcinoma | Female | >=65 | I/II | Chemotherapy | doxorubicin | SD |
RBBP6 | insertion | Nonsense_Mutation | novel | c.1951_1952insGGGCCAGGTGTGGTGGCTCTCACCTGTAACCCC | p.Glu651delinsGlyAlaArgCysGlyGlySerHisLeuTerProGln | p.E651delinsGARCGGSHL*PQ | Q7Z6E9 | protein_coding | | | TCGA-AO-A0JF-01 | Breast | breast invasive carcinoma | Female | >=65 | I/II | Chemotherapy | doxorubicin | SD |
RBBP6 | deletion | In_Frame_Del | | c.1620_1625delNNNNNN | p.Arg541_Ser542del | p.R541_S542del | Q7Z6E9 | protein_coding | | | TCGA-AR-A251-01 | Breast | breast invasive carcinoma | Female | <65 | III/IV | Chemotherapy | doxorubicin | SD |
RBBP6 | deletion | In_Frame_Del | | c.3982_3987delTCTGAA | p.Ser1328_Glu1329del | p.S1328_E1329del | Q7Z6E9 | protein_coding | | | TCGA-D8-A1JK-01 | Breast | breast invasive carcinoma | Female | >=65 | I/II | Unknown | Unknown | SD |
RBBP6 | deletion | Frame_Shift_Del | novel | c.1458delC | p.Thr487GlnfsTer5 | p.T487Qfs*5 | Q7Z6E9 | protein_coding | | | TCGA-D8-A27V-01 | Breast | breast invasive carcinoma | Female | <65 | I/II | Hormone Therapy | tamoxiphen | SD |