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 |
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 |
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:00510527 | Lung | IAC | regulation of DNA metabolic process | 55/2061 | 359/18723 | 7.12e-03 | 4.87e-02 | 55 |
GO:005105210 | Oral cavity | OSCC | regulation of DNA metabolic process | 207/7305 | 359/18723 | 4.45e-13 | 2.17e-11 | 207 |
GO:00482852 | Oral cavity | OSCC | organelle fission | 265/7305 | 488/18723 | 3.22e-12 | 1.27e-10 | 265 |
GO:00002801 | Oral cavity | OSCC | nuclear division | 237/7305 | 439/18723 | 9.62e-11 | 2.90e-09 | 237 |
GO:0006310 | Oral cavity | OSCC | DNA recombination | 147/7305 | 305/18723 | 6.33e-04 | 3.56e-03 | 147 |
GO:0051095 | Oral cavity | OSCC | regulation of helicase activity | 10/7305 | 12/18723 | 2.25e-03 | 1.00e-02 | 10 |
GO:0016447 | Oral cavity | OSCC | somatic recombination of immunoglobulin gene segments | 31/7305 | 57/18723 | 1.32e-02 | 4.38e-02 | 31 |
GO:00022002 | Oral cavity | OSCC | somatic diversification of immune receptors | 40/7305 | 77/18723 | 1.42e-02 | 4.69e-02 | 40 |
GO:0002562 | Oral cavity | OSCC | somatic diversification of immune receptors via germline recombination within a single locus | 35/7305 | 66/18723 | 1.43e-02 | 4.69e-02 | 35 |
GO:0016444 | Oral cavity | OSCC | somatic cell DNA recombination | 35/7305 | 66/18723 | 1.43e-02 | 4.69e-02 | 35 |
GO:005105222 | Oral cavity | EOLP | regulation of DNA metabolic process | 75/2218 | 359/18723 | 5.81e-07 | 1.53e-05 | 75 |
GO:00164451 | Oral cavity | EOLP | somatic diversification of immunoglobulins | 16/2218 | 67/18723 | 4.37e-03 | 2.38e-02 | 16 |
GO:00164471 | Oral cavity | EOLP | somatic recombination of immunoglobulin gene segments | 14/2218 | 57/18723 | 5.70e-03 | 2.92e-02 | 14 |
GO:00022001 | Oral cavity | EOLP | somatic diversification of immune receptors | 17/2218 | 77/18723 | 7.79e-03 | 3.72e-02 | 17 |
GO:00025621 | Oral cavity | EOLP | somatic diversification of immune receptors via germline recombination within a single locus | 15/2218 | 66/18723 | 9.17e-03 | 4.17e-02 | 15 |
GO:00164441 | Oral cavity | EOLP | somatic cell DNA recombination | 15/2218 | 66/18723 | 9.17e-03 | 4.17e-02 | 15 |
GO:005105218 | Thyroid | PTC | regulation of DNA metabolic process | 171/5968 | 359/18723 | 2.52e-10 | 8.33e-09 | 171 |
GO:00482855 | Thyroid | PTC | organelle fission | 188/5968 | 488/18723 | 9.64e-04 | 5.77e-03 | 188 |
GO:00002804 | Thyroid | PTC | nuclear division | 167/5968 | 439/18723 | 3.27e-03 | 1.60e-02 | 167 |
GO:00510532 | Thyroid | PTC | negative regulation of DNA metabolic process | 53/5968 | 125/18723 | 8.39e-03 | 3.53e-02 | 53 |
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 |
MSH3 | SNV | Missense_Mutation | rs768150895 | c.2615N>A | p.Gly872Glu | p.G872E | P20585 | protein_coding | deleterious(0.04) | probably_damaging(0.963) | TCGA-AC-A23H-01 | Breast | breast invasive carcinoma | Female | >=65 | I/II | Unknown | Unknown | PD |
MSH3 | SNV | Missense_Mutation | novel | c.2187T>A | p.His729Gln | p.H729Q | P20585 | protein_coding | deleterious(0) | possibly_damaging(0.866) | TCGA-BH-A0BW-01 | Breast | breast invasive carcinoma | Female | >=65 | I/II | Chemotherapy | adriamycin | CR |
MSH3 | SNV | Missense_Mutation | | c.2599N>G | p.Ile867Val | p.I867V | P20585 | protein_coding | tolerated(0.43) | probably_damaging(0.996) | TCGA-C8-A26X-01 | Breast | breast invasive carcinoma | Female | <65 | I/II | Chemotherapy | 5-fluorouracil | CR |
MSH3 | SNV | Missense_Mutation | rs762638626 | c.2814N>T | p.Arg938Ser | p.R938S | P20585 | protein_coding | deleterious(0) | probably_damaging(0.942) | TCGA-D8-A27G-01 | Breast | breast invasive carcinoma | Female | >=65 | I/II | Unknown | Unknown | SD |
MSH3 | insertion | Frame_Shift_Ins | novel | c.2391_2392insGTAGATACATTGGTGAAGGTTGTATTATT | p.Gln798ValfsTer12 | p.Q798Vfs*12 | P20585 | protein_coding | | | TCGA-AR-A0U0-01 | Breast | breast invasive carcinoma | Female | >=65 | I/II | Unknown | Unknown | SD |
MSH3 | SNV | Missense_Mutation | rs373251342 | c.2288N>A | p.Cys763Tyr | p.C763Y | P20585 | protein_coding | tolerated(0.48) | possibly_damaging(0.752) | TCGA-C5-A7CO-01 | Cervix | cervical & endocervical cancer | Female | >=65 | I/II | Chemotherapy | cisplatin | SD |
MSH3 | SNV | Missense_Mutation | novel | c.119N>T | p.Ser40Phe | p.S40F | P20585 | protein_coding | deleterious_low_confidence(0) | benign(0.014) | TCGA-C5-A8YT-01 | Cervix | cervical & endocervical cancer | Female | <65 | I/II | Chemotherapy | cisplatin | PD |
MSH3 | SNV | Missense_Mutation | rs762864714 | c.748N>A | p.Val250Met | p.V250M | P20585 | protein_coding | deleterious(0) | probably_damaging(0.978) | TCGA-AA-3672-01 | Colorectum | colon adenocarcinoma | Female | >=65 | III/IV | Unknown | Unknown | SD |
MSH3 | SNV | Missense_Mutation | rs138381683 | c.427N>A | p.Asp143Asn | p.D143N | P20585 | protein_coding | deleterious_low_confidence(0.04) | benign(0.255) | TCGA-AA-3984-01 | Colorectum | colon adenocarcinoma | Female | <65 | I/II | Unknown | Unknown | SD |
MSH3 | SNV | Missense_Mutation | | c.806N>G | p.Glu269Gly | p.E269G | P20585 | protein_coding | deleterious(0.01) | probably_damaging(0.991) | TCGA-AA-A010-01 | Colorectum | colon adenocarcinoma | Female | <65 | I/II | Chemotherapy | folinic | CR |