Tissue | Expression Dynamics | Abbreviation |
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 |
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 |
Pathway ID | Tissue | Disease Stage | Description | Gene Ratio | Bg Ratio | pvalue | p.adjust | qvalue | Count |
hsa04141 | Colorectum | AD | Protein processing in endoplasmic reticulum | 80/2092 | 174/8465 | 5.96e-10 | 1.25e-08 | 7.96e-09 | 80 |
hsa00510 | Colorectum | AD | N-Glycan biosynthesis | 21/2092 | 53/8465 | 1.15e-02 | 4.24e-02 | 2.71e-02 | 21 |
hsa041411 | Colorectum | AD | Protein processing in endoplasmic reticulum | 80/2092 | 174/8465 | 5.96e-10 | 1.25e-08 | 7.96e-09 | 80 |
hsa005101 | Colorectum | AD | N-Glycan biosynthesis | 21/2092 | 53/8465 | 1.15e-02 | 4.24e-02 | 2.71e-02 | 21 |
hsa041412 | Colorectum | SER | Protein processing in endoplasmic reticulum | 60/1580 | 174/8465 | 4.20e-07 | 7.33e-06 | 5.32e-06 | 60 |
hsa041413 | Colorectum | SER | Protein processing in endoplasmic reticulum | 60/1580 | 174/8465 | 4.20e-07 | 7.33e-06 | 5.32e-06 | 60 |
hsa041414 | Colorectum | MSS | Protein processing in endoplasmic reticulum | 75/1875 | 174/8465 | 3.78e-10 | 8.44e-09 | 5.17e-09 | 75 |
hsa005102 | Colorectum | MSS | N-Glycan biosynthesis | 20/1875 | 53/8465 | 7.17e-03 | 2.83e-02 | 1.73e-02 | 20 |
hsa041415 | Colorectum | MSS | Protein processing in endoplasmic reticulum | 75/1875 | 174/8465 | 3.78e-10 | 8.44e-09 | 5.17e-09 | 75 |
hsa005103 | Colorectum | MSS | N-Glycan biosynthesis | 20/1875 | 53/8465 | 7.17e-03 | 2.83e-02 | 1.73e-02 | 20 |
hsa041418 | Colorectum | FAP | Protein processing in endoplasmic reticulum | 50/1404 | 174/8465 | 3.64e-05 | 3.68e-04 | 2.24e-04 | 50 |
hsa041419 | Colorectum | FAP | Protein processing in endoplasmic reticulum | 50/1404 | 174/8465 | 3.64e-05 | 3.68e-04 | 2.24e-04 | 50 |
hsa04141211 | Esophagus | ESCC | Protein processing in endoplasmic reticulum | 147/4205 | 174/8465 | 3.29e-22 | 1.10e-19 | 5.64e-20 | 147 |
hsa0051023 | Esophagus | ESCC | N-Glycan biosynthesis | 39/4205 | 53/8465 | 3.26e-04 | 1.15e-03 | 5.89e-04 | 39 |
hsa04141310 | Esophagus | ESCC | Protein processing in endoplasmic reticulum | 147/4205 | 174/8465 | 3.29e-22 | 1.10e-19 | 5.64e-20 | 147 |
hsa0051033 | Esophagus | ESCC | N-Glycan biosynthesis | 39/4205 | 53/8465 | 3.26e-04 | 1.15e-03 | 5.89e-04 | 39 |
hsa0414114 | Liver | Cirrhotic | Protein processing in endoplasmic reticulum | 114/2530 | 174/8465 | 1.16e-22 | 9.67e-21 | 5.96e-21 | 114 |
hsa005104 | Liver | Cirrhotic | N-Glycan biosynthesis | 32/2530 | 53/8465 | 3.82e-06 | 4.10e-05 | 2.53e-05 | 32 |
hsa0414115 | Liver | Cirrhotic | Protein processing in endoplasmic reticulum | 114/2530 | 174/8465 | 1.16e-22 | 9.67e-21 | 5.96e-21 | 114 |
hsa0051011 | Liver | Cirrhotic | N-Glycan biosynthesis | 32/2530 | 53/8465 | 3.82e-06 | 4.10e-05 | 2.53e-05 | 32 |
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 |
GANAB | SNV | Missense_Mutation | | c.2326G>C | p.Val776Leu | p.V776L | Q14697 | protein_coding | deleterious(0) | benign(0.407) | TCGA-AC-A23H-01 | Breast | breast invasive carcinoma | Female | >=65 | I/II | Unknown | Unknown | PD |
GANAB | SNV | Missense_Mutation | | c.388N>T | p.Val130Phe | p.V130F | Q14697 | protein_coding | tolerated(0.1) | benign(0.03) | TCGA-AR-A256-01 | Breast | breast invasive carcinoma | Female | <65 | I/II | Chemotherapy | doxorubicin | PD |
GANAB | SNV | Missense_Mutation | novel | c.1878N>G | p.Phe626Leu | p.F626L | Q14697 | protein_coding | deleterious(0) | benign(0.43) | TCGA-BH-A0B6-01 | Breast | breast invasive carcinoma | Female | <65 | I/II | Unknown | Unknown | SD |
GANAB | SNV | Missense_Mutation | rs140219733 | c.2318N>T | p.Ala773Val | p.A773V | Q14697 | protein_coding | deleterious(0.04) | benign(0.157) | TCGA-BH-A18G-01 | Breast | breast invasive carcinoma | Female | >=65 | I/II | Unknown | Unknown | SD |
GANAB | SNV | Missense_Mutation | | c.1149N>G | p.Ile383Met | p.I383M | Q14697 | protein_coding | deleterious(0) | possibly_damaging(0.563) | TCGA-D8-A1JN-01 | Breast | breast invasive carcinoma | Female | >=65 | III/IV | Hormone Therapy | anastrozolum | SD |
GANAB | SNV | Missense_Mutation | rs773537449 | c.812N>T | p.Ser271Phe | p.S271F | Q14697 | protein_coding | deleterious(0) | probably_damaging(0.974) | TCGA-D8-A4Z1-01 | Breast | breast invasive carcinoma | Female | >=65 | I/II | Hormone Therapy | tamoxiphen | SD |
GANAB | SNV | Missense_Mutation | rs764430907 | c.899G>C | p.Arg300Pro | p.R300P | Q14697 | protein_coding | deleterious(0) | probably_damaging(0.996) | TCGA-E2-A14N-01 | Breast | breast invasive carcinoma | Female | <65 | I/II | Chemotherapy | cyclophosphamide | SD |
GANAB | insertion | Frame_Shift_Ins | novel | c.891_892insGCTGAGGCAAGAGGATCGCTTGAGGCCAGGAGTTCGAGAC | p.Pro298AlafsTer26 | p.P298Afs*26 | Q14697 | protein_coding | | | TCGA-BH-A0AY-01 | Breast | breast invasive carcinoma | Female | <65 | I/II | Chemotherapy | | SD |
GANAB | SNV | Missense_Mutation | novel | c.1598N>G | p.Asp533Gly | p.D533G | Q14697 | protein_coding | deleterious(0) | probably_damaging(0.997) | TCGA-2W-A8YY-01 | Cervix | cervical & endocervical cancer | Female | <65 | I/II | Chemotherapy | cisplatin | CR |
GANAB | SNV | Missense_Mutation | novel | c.392C>G | p.Ser131Cys | p.S131C | Q14697 | protein_coding | tolerated(0.2) | possibly_damaging(0.77) | TCGA-DS-A1OB-01 | Cervix | cervical & endocervical cancer | Female | <65 | I/II | Chemotherapy | carboplatin | PD |