Tissue | Expression Dynamics | Abbreviation |
Cervix | | CC: Cervix cancer |
HSIL_HPV: HPV-infected high-grade squamous intraepithelial lesions |
N_HPV: HPV-infected normal cervix |
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 |
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:002240710 | Cervix | CC | regulation of cell-cell adhesion | 103/2311 | 448/18723 | 1.78e-10 | 2.87e-08 | 103 |
GO:000989610 | Cervix | CC | positive regulation of catabolic process | 109/2311 | 492/18723 | 5.26e-10 | 6.99e-08 | 109 |
GO:00421108 | Cervix | CC | T cell activation | 107/2311 | 487/18723 | 1.24e-09 | 1.46e-07 | 107 |
GO:00508638 | Cervix | CC | regulation of T cell activation | 80/2311 | 329/18723 | 1.28e-09 | 1.47e-07 | 80 |
GO:00071598 | Cervix | CC | leukocyte cell-cell adhesion | 85/2311 | 371/18723 | 8.27e-09 | 7.07e-07 | 85 |
GO:00071626 | Cervix | CC | negative regulation of cell adhesion | 72/2311 | 303/18723 | 2.36e-08 | 1.70e-06 | 72 |
GO:00026837 | Cervix | CC | negative regulation of immune system process | 94/2311 | 434/18723 | 2.63e-08 | 1.87e-06 | 94 |
GO:19030378 | Cervix | CC | regulation of leukocyte cell-cell adhesion | 77/2311 | 336/18723 | 4.08e-08 | 2.54e-06 | 77 |
GO:003133110 | Cervix | CC | positive regulation of cellular catabolic process | 91/2311 | 427/18723 | 9.64e-08 | 5.25e-06 | 91 |
GO:00027644 | Cervix | CC | immune response-regulating signaling pathway | 97/2311 | 468/18723 | 1.49e-07 | 7.07e-06 | 97 |
GO:00002097 | Cervix | CC | protein polyubiquitination | 58/2311 | 236/18723 | 1.57e-07 | 7.41e-06 | 58 |
GO:190370610 | Cervix | CC | regulation of hemopoiesis | 80/2311 | 367/18723 | 2.14e-07 | 9.55e-06 | 80 |
GO:00064029 | Cervix | CC | mRNA catabolic process | 56/2311 | 232/18723 | 4.81e-07 | 1.83e-05 | 56 |
GO:00420988 | Cervix | CC | T cell proliferation | 49/2311 | 199/18723 | 1.32e-06 | 4.49e-05 | 49 |
GO:19033119 | Cervix | CC | regulation of mRNA metabolic process | 64/2311 | 288/18723 | 1.71e-06 | 5.64e-05 | 64 |
GO:00224084 | Cervix | CC | negative regulation of cell-cell adhesion | 48/2311 | 196/18723 | 1.99e-06 | 6.18e-05 | 48 |
GO:004887210 | Cervix | CC | homeostasis of number of cells | 61/2311 | 272/18723 | 2.17e-06 | 6.55e-05 | 61 |
GO:00064019 | Cervix | CC | RNA catabolic process | 62/2311 | 278/18723 | 2.18e-06 | 6.56e-05 | 62 |
GO:19021056 | Cervix | CC | regulation of leukocyte differentiation | 61/2311 | 279/18723 | 5.16e-06 | 1.29e-04 | 61 |
GO:19021064 | Cervix | CC | negative regulation of leukocyte differentiation | 29/2311 | 102/18723 | 1.02e-05 | 2.29e-04 | 29 |
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 |
RC3H2 | SNV | Missense_Mutation | novel | c.464N>A | p.Ala155Asp | p.A155D | Q9HBD1 | protein_coding | deleterious(0) | possibly_damaging(0.72) | TCGA-AC-A8OS-01 | Breast | breast invasive carcinoma | Female | >=65 | I/II | Unknown | Unknown | SD |
RC3H2 | SNV | Missense_Mutation | | c.1393G>T | p.Val465Leu | p.V465L | Q9HBD1 | protein_coding | tolerated(0.5) | possibly_damaging(0.785) | TCGA-B6-A0RU-01 | Breast | breast invasive carcinoma | Female | <65 | I/II | Unknown | Unknown | PD |
RC3H2 | SNV | Missense_Mutation | | c.2117A>G | p.Tyr706Cys | p.Y706C | Q9HBD1 | protein_coding | deleterious(0.01) | probably_damaging(0.984) | TCGA-D8-A140-01 | Breast | breast invasive carcinoma | Female | <65 | I/II | Chemotherapy | doxorubicin+cyclophosphamid | SD |
RC3H2 | SNV | Missense_Mutation | novel | c.2009N>T | p.Ser670Phe | p.S670F | Q9HBD1 | protein_coding | tolerated(0.1) | benign(0.445) | TCGA-D8-A27G-01 | Breast | breast invasive carcinoma | Female | >=65 | I/II | Unknown | Unknown | SD |
RC3H2 | SNV | Missense_Mutation | | c.1768C>G | p.Pro590Ala | p.P590A | Q9HBD1 | protein_coding | deleterious(0.01) | probably_damaging(0.956) | TCGA-E2-A10C-01 | Breast | breast invasive carcinoma | Female | <65 | I/II | Chemotherapy | cytoxan | SD |
RC3H2 | SNV | Missense_Mutation | | c.2123N>A | p.Arg708Gln | p.R708Q | Q9HBD1 | protein_coding | deleterious(0.02) | possibly_damaging(0.885) | TCGA-EW-A1OV-01 | Breast | breast invasive carcinoma | Female | <65 | I/II | Chemotherapy | epirubicin | SD |
RC3H2 | insertion | Nonsense_Mutation | novel | c.2499_2500insCCCAAGTAGCTGGGATTATAGACATGCACCACC | p.Leu833_Ser834insProLysTerLeuGlyLeuTerThrCysThrThr | p.L833_S834insPK*LGL*TCTT | Q9HBD1 | protein_coding | | | TCGA-A2-A0EX-01 | Breast | breast invasive carcinoma | Female | <65 | I/II | Hormone Therapy | tamoxiphen | SD |
RC3H2 | SNV | Missense_Mutation | rs370277433 | c.2792N>T | p.Ala931Val | p.A931V | Q9HBD1 | protein_coding | deleterious(0.05) | benign(0.018) | TCGA-2W-A8YY-01 | Cervix | cervical & endocervical cancer | Female | <65 | I/II | Chemotherapy | cisplatin | CR |
RC3H2 | SNV | Missense_Mutation | | c.2737N>T | p.Arg913Cys | p.R913C | Q9HBD1 | protein_coding | deleterious(0) | probably_damaging(0.973) | TCGA-EA-A50E-01 | Cervix | cervical & endocervical cancer | Female | <65 | I/II | Unknown | Unknown | PD |
RC3H2 | SNV | Missense_Mutation | | c.1259N>C | p.Arg420Pro | p.R420P | Q9HBD1 | protein_coding | deleterious(0.01) | possibly_damaging(0.89) | TCGA-IR-A3LA-01 | Cervix | cervical & endocervical cancer | Female | <65 | I/II | Chemotherapy | cisplatin | CR |