Tissue | Expression Dynamics | Abbreviation |
Cervix | | CC: Cervix cancer |
HSIL_HPV: HPV-infected high-grade squamous intraepithelial lesions |
N_HPV: HPV-infected normal cervix |
Colorectum (GSE201348) | | FAP: Familial adenomatous polyposis |
CRC: Colorectal cancer |
Colorectum (HTA11) | | AD: Adenomas |
SER: Sessile serrated lesions |
MSI-H: Microsatellite-high colorectal cancer |
MSS: Microsatellite stable colorectal cancer |
Endometrium | | AEH: Atypical endometrial hyperplasia |
EEC: Endometrioid Cancer |
GC | | CAG: Chronic atrophic gastritis |
CAG with IM: Chronic atrophic gastritis with intestinal metaplasia |
CSG: Chronic superficial gastritis |
GC: Gastric cancer |
SIM: Severe intestinal metaplasia |
WIM: Wild intestinal metaplasia |
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 |
Pathway ID | Tissue | Disease Stage | Description | Gene Ratio | Bg Ratio | pvalue | p.adjust | qvalue | Count |
hsa051657 | Cervix | CC | Human papillomavirus infection | 74/1267 | 331/8465 | 1.70e-04 | 1.02e-03 | 6.03e-04 | 74 |
hsa04658 | Cervix | CC | Th1 and Th2 cell differentiation | 24/1267 | 92/8465 | 3.71e-03 | 1.34e-02 | 7.91e-03 | 24 |
hsa04330 | Cervix | CC | Notch signaling pathway | 17/1267 | 62/8465 | 7.99e-03 | 2.56e-02 | 1.51e-02 | 17 |
hsa0516512 | Cervix | CC | Human papillomavirus infection | 74/1267 | 331/8465 | 1.70e-04 | 1.02e-03 | 6.03e-04 | 74 |
hsa046581 | Cervix | CC | Th1 and Th2 cell differentiation | 24/1267 | 92/8465 | 3.71e-03 | 1.34e-02 | 7.91e-03 | 24 |
hsa043301 | Cervix | CC | Notch signaling pathway | 17/1267 | 62/8465 | 7.99e-03 | 2.56e-02 | 1.51e-02 | 17 |
hsa05165 | Liver | Cirrhotic | Human papillomavirus infection | 124/2530 | 331/8465 | 1.55e-03 | 7.83e-03 | 4.83e-03 | 124 |
hsa051651 | Liver | Cirrhotic | Human papillomavirus infection | 124/2530 | 331/8465 | 1.55e-03 | 7.83e-03 | 4.83e-03 | 124 |
hsa051652 | Liver | HCC | Human papillomavirus infection | 188/4020 | 331/8465 | 3.34e-04 | 1.49e-03 | 8.29e-04 | 188 |
hsa051653 | Liver | HCC | Human papillomavirus infection | 188/4020 | 331/8465 | 3.34e-04 | 1.49e-03 | 8.29e-04 | 188 |
hsa051656 | Lung | IAC | Human papillomavirus infection | 71/1053 | 331/8465 | 1.88e-06 | 7.63e-05 | 5.06e-05 | 71 |
hsa0516511 | Lung | IAC | Human papillomavirus infection | 71/1053 | 331/8465 | 1.88e-06 | 7.63e-05 | 5.06e-05 | 71 |
hsa0516521 | Lung | AIS | Human papillomavirus infection | 64/961 | 331/8465 | 1.03e-05 | 3.04e-04 | 1.95e-04 | 64 |
hsa0516531 | Lung | AIS | Human papillomavirus infection | 64/961 | 331/8465 | 1.03e-05 | 3.04e-04 | 1.95e-04 | 64 |
hsa051654 | Lung | MIAC | Human papillomavirus infection | 32/507 | 331/8465 | 4.78e-03 | 3.49e-02 | 2.52e-02 | 32 |
hsa051655 | Lung | MIAC | Human papillomavirus infection | 32/507 | 331/8465 | 4.78e-03 | 3.49e-02 | 2.52e-02 | 32 |
hsa0516541 | Oral cavity | EOLP | Human papillomavirus infection | 79/1218 | 331/8465 | 1.96e-06 | 1.63e-05 | 9.60e-06 | 79 |
hsa0465821 | Oral cavity | EOLP | Th1 and Th2 cell differentiation | 31/1218 | 92/8465 | 2.27e-06 | 1.79e-05 | 1.05e-05 | 31 |
hsa0516551 | Oral cavity | EOLP | Human papillomavirus infection | 79/1218 | 331/8465 | 1.96e-06 | 1.63e-05 | 9.60e-06 | 79 |
hsa0465831 | Oral cavity | EOLP | Th1 and Th2 cell differentiation | 31/1218 | 92/8465 | 2.27e-06 | 1.79e-05 | 1.05e-05 | 31 |
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 |
MAML3 | SNV | Missense_Mutation | novel | c.3218N>C | p.Gly1073Ala | p.G1073A | Q96JK9 | protein_coding | tolerated(0.21) | benign(0.108) | TCGA-A8-A08O-01 | Breast | breast invasive carcinoma | Female | <65 | III/IV | Chemotherapy | docetaxel | PD |
MAML3 | SNV | Missense_Mutation | | c.2953N>A | p.Gly985Ser | p.G985S | Q96JK9 | protein_coding | tolerated(0.43) | benign(0.02) | TCGA-AC-A23H-01 | Breast | breast invasive carcinoma | Female | >=65 | I/II | Unknown | Unknown | PD |
MAML3 | SNV | Missense_Mutation | rs547610978 | c.1325C>T | p.Pro442Leu | p.P442L | Q96JK9 | protein_coding | tolerated(0.05) | possibly_damaging(0.668) | TCGA-BH-A0E2-01 | Breast | breast invasive carcinoma | Female | <65 | III/IV | Chemotherapy | doxorubicin | SD |
MAML3 | SNV | Missense_Mutation | | c.1360N>T | p.Pro454Ser | p.P454S | Q96JK9 | protein_coding | tolerated(0.17) | benign(0.005) | TCGA-BH-A0GY-01 | Breast | breast invasive carcinoma | Female | >=65 | I/II | Chemotherapy | cyotxan | SD |
MAML3 | SNV | Missense_Mutation | novel | c.2060N>T | p.Ala687Val | p.A687V | Q96JK9 | protein_coding | tolerated(0.39) | benign(0.086) | TCGA-BH-A0HF-01 | Breast | breast invasive carcinoma | Female | >=65 | I/II | Hormone Therapy | arimidex | SD |
MAML3 | SNV | Missense_Mutation | | c.3256C>T | p.Arg1086Trp | p.R1086W | Q96JK9 | protein_coding | deleterious(0) | probably_damaging(0.993) | TCGA-BH-A18G-01 | Breast | breast invasive carcinoma | Female | >=65 | I/II | Unknown | Unknown | SD |
MAML3 | deletion | Frame_Shift_Del | novel | c.2357_2363delNNNNNNN | p.Arg786ProfsTer24 | p.R786Pfs*24 | Q96JK9 | protein_coding | | | TCGA-A2-A1FW-01 | Breast | breast invasive carcinoma | Female | <65 | III/IV | Chemotherapy | cytoxan | SD |
MAML3 | deletion | Frame_Shift_Del | novel | c.2725delN | p.Val909LeufsTer4 | p.V909Lfs*4 | Q96JK9 | protein_coding | | | TCGA-LL-A7T0-01 | Breast | breast invasive carcinoma | Female | >=65 | I/II | Unknown | Unknown | SD |
MAML3 | SNV | Missense_Mutation | rs751266761 | c.3298G>A | p.Gly1100Arg | p.G1100R | Q96JK9 | protein_coding | deleterious(0.04) | possibly_damaging(0.539) | TCGA-2W-A8YY-01 | Cervix | cervical & endocervical cancer | Female | <65 | I/II | Chemotherapy | cisplatin | CR |
MAML3 | SNV | Missense_Mutation | novel | c.787N>C | p.Glu263Gln | p.E263Q | Q96JK9 | protein_coding | tolerated(0.07) | possibly_damaging(0.796) | TCGA-C5-A1MH-01 | Cervix | cervical & endocervical cancer | Female | >=65 | III/IV | Chemotherapy | cisplatin | PD |