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 |
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:0010498111 | Esophagus | ESCC | proteasomal protein catabolic process | 369/8552 | 490/18723 | 1.13e-41 | 1.80e-38 | 369 |
GO:0043161111 | Esophagus | ESCC | proteasome-mediated ubiquitin-dependent protein catabolic process | 312/8552 | 412/18723 | 3.53e-36 | 4.48e-33 | 312 |
GO:0034976111 | Esophagus | ESCC | response to endoplasmic reticulum stress | 192/8552 | 256/18723 | 7.15e-22 | 1.30e-19 | 192 |
GO:0006457110 | Esophagus | ESCC | protein folding | 163/8552 | 212/18723 | 1.13e-20 | 1.74e-18 | 163 |
GO:0035966111 | Esophagus | ESCC | response to topologically incorrect protein | 125/8552 | 159/18723 | 1.44e-17 | 1.27e-15 | 125 |
GO:0035967111 | Esophagus | ESCC | cellular response to topologically incorrect protein | 90/8552 | 116/18723 | 1.94e-12 | 8.11e-11 | 90 |
GO:003650315 | Esophagus | ESCC | ERAD pathway | 82/8552 | 107/18723 | 5.80e-11 | 1.84e-09 | 82 |
GO:0061077110 | Esophagus | ESCC | chaperone-mediated protein folding | 56/8552 | 67/18723 | 1.52e-10 | 4.36e-09 | 56 |
GO:003043314 | Esophagus | ESCC | ubiquitin-dependent ERAD pathway | 66/8552 | 85/18723 | 1.64e-09 | 3.78e-08 | 66 |
GO:0006458110 | Esophagus | ESCC | 'de novo' protein folding | 36/8552 | 43/18723 | 2.90e-07 | 4.20e-06 | 36 |
GO:0051084110 | Esophagus | ESCC | 'de novo' posttranslational protein folding | 32/8552 | 39/18723 | 3.27e-06 | 3.65e-05 | 32 |
GO:0051085110 | Esophagus | ESCC | chaperone cofactor-dependent protein refolding | 27/8552 | 34/18723 | 6.01e-05 | 4.62e-04 | 27 |
GO:00517884 | Esophagus | ESCC | response to misfolded protein | 21/8552 | 25/18723 | 9.12e-05 | 6.54e-04 | 21 |
GO:00712184 | Esophagus | ESCC | cellular response to misfolded protein | 19/8552 | 23/18723 | 3.12e-04 | 1.85e-03 | 19 |
GO:001049812 | Liver | Cirrhotic | proteasomal protein catabolic process | 216/4634 | 490/18723 | 2.52e-21 | 9.29e-19 | 216 |
GO:00064577 | Liver | Cirrhotic | protein folding | 114/4634 | 212/18723 | 9.23e-20 | 2.31e-17 | 114 |
GO:00349767 | Liver | Cirrhotic | response to endoplasmic reticulum stress | 130/4634 | 256/18723 | 1.72e-19 | 3.86e-17 | 130 |
GO:004316112 | Liver | Cirrhotic | proteasome-mediated ubiquitin-dependent protein catabolic process | 184/4634 | 412/18723 | 4.52e-19 | 8.85e-17 | 184 |
GO:00359667 | Liver | Cirrhotic | response to topologically incorrect protein | 91/4634 | 159/18723 | 2.07e-18 | 3.60e-16 | 91 |
GO:00359677 | Liver | Cirrhotic | cellular response to topologically incorrect protein | 64/4634 | 116/18723 | 2.20e-12 | 1.62e-10 | 64 |
Pathway ID | Tissue | Disease Stage | Description | Gene Ratio | Bg Ratio | pvalue | p.adjust | qvalue | Count |
hsa04141211 | Esophagus | ESCC | Protein processing in endoplasmic reticulum | 147/4205 | 174/8465 | 3.29e-22 | 1.10e-19 | 5.64e-20 | 147 |
hsa04141310 | Esophagus | ESCC | Protein processing in endoplasmic reticulum | 147/4205 | 174/8465 | 3.29e-22 | 1.10e-19 | 5.64e-20 | 147 |
hsa0414114 | Liver | Cirrhotic | Protein processing in endoplasmic reticulum | 114/2530 | 174/8465 | 1.16e-22 | 9.67e-21 | 5.96e-21 | 114 |
hsa0414115 | Liver | Cirrhotic | Protein processing in endoplasmic reticulum | 114/2530 | 174/8465 | 1.16e-22 | 9.67e-21 | 5.96e-21 | 114 |
hsa0414122 | Liver | HCC | Protein processing in endoplasmic reticulum | 146/4020 | 174/8465 | 7.34e-24 | 2.46e-21 | 1.37e-21 | 146 |
hsa0414132 | Liver | HCC | Protein processing in endoplasmic reticulum | 146/4020 | 174/8465 | 7.34e-24 | 2.46e-21 | 1.37e-21 | 146 |
hsa0414130 | Oral cavity | OSCC | Protein processing in endoplasmic reticulum | 143/3704 | 174/8465 | 6.82e-26 | 2.28e-23 | 1.16e-23 | 143 |
hsa04141113 | Oral cavity | OSCC | Protein processing in endoplasmic reticulum | 143/3704 | 174/8465 | 6.82e-26 | 2.28e-23 | 1.16e-23 | 143 |
hsa04141210 | Oral cavity | LP | Protein processing in endoplasmic reticulum | 113/2418 | 174/8465 | 8.74e-24 | 5.82e-22 | 3.76e-22 | 113 |
hsa0414138 | Oral cavity | LP | Protein processing in endoplasmic reticulum | 113/2418 | 174/8465 | 8.74e-24 | 5.82e-22 | 3.76e-22 | 113 |
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 |
DNAJB12 | SNV | Missense_Mutation | | c.723N>A | p.Phe241Leu | p.F241L | | protein_coding | deleterious(0) | probably_damaging(0.998) | TCGA-AG-A002-01 | Colorectum | rectum adenocarcinoma | Male | <65 | I/II | Unknown | Unknown | SD |
DNAJB12 | SNV | Missense_Mutation | novel | c.1025N>A | p.Ser342Tyr | p.S342Y | | protein_coding | deleterious(0.02) | possibly_damaging(0.575) | TCGA-A5-A1OF-01 | Endometrium | uterine corpus endometrioid carcinoma | Female | <65 | I/II | Unknown | Unknown | SD |
DNAJB12 | SNV | Missense_Mutation | novel | c.989A>G | p.Tyr330Cys | p.Y330C | | protein_coding | deleterious(0) | probably_damaging(0.986) | TCGA-AJ-A23O-01 | Endometrium | uterine corpus endometrioid carcinoma | Female | >=65 | I/II | Unknown | Unknown | SD |
DNAJB12 | SNV | Missense_Mutation | rs775784238 | c.1132N>T | p.Arg378Cys | p.R378C | | protein_coding | deleterious(0) | probably_damaging(0.969) | TCGA-AJ-A3BG-01 | Endometrium | uterine corpus endometrioid carcinoma | Female | >=65 | I/II | Chemotherapy | carboplatin | PD |
DNAJB12 | SNV | Missense_Mutation | novel | c.536N>A | p.Pro179His | p.P179H | | protein_coding | deleterious(0) | probably_damaging(1) | TCGA-AP-A059-01 | Endometrium | uterine corpus endometrioid carcinoma | Female | >=65 | I/II | Unknown | Unknown | SD |
DNAJB12 | SNV | Missense_Mutation | novel | c.578C>T | p.Ala193Val | p.A193V | | protein_coding | deleterious(0) | possibly_damaging(0.778) | TCGA-AP-A1DK-01 | Endometrium | uterine corpus endometrioid carcinoma | Female | <65 | I/II | Unknown | Unknown | SD |
DNAJB12 | SNV | Missense_Mutation | rs755131366 | c.940N>A | p.Val314Met | p.V314M | | protein_coding | tolerated(0.34) | probably_damaging(1) | TCGA-AX-A2HJ-01 | Endometrium | uterine corpus endometrioid carcinoma | Female | <65 | I/II | Unknown | Unknown | SD |
DNAJB12 | SNV | Missense_Mutation | | c.1130C>T | p.Ala377Val | p.A377V | | protein_coding | deleterious(0) | probably_damaging(0.988) | TCGA-BG-A222-01 | Endometrium | uterine corpus endometrioid carcinoma | Female | <65 | I/II | Unknown | Unknown | SD |
DNAJB12 | SNV | Missense_Mutation | rs755131366 | c.940N>A | p.Val314Met | p.V314M | | protein_coding | tolerated(0.34) | probably_damaging(1) | TCGA-D1-A15X-01 | Endometrium | uterine corpus endometrioid carcinoma | Female | <65 | I/II | Unknown | Unknown | SD |
DNAJB12 | SNV | Missense_Mutation | | c.1133N>A | p.Arg378His | p.R378H | | protein_coding | deleterious(0) | benign(0.171) | TCGA-D1-A163-01 | Endometrium | uterine corpus endometrioid carcinoma | Female | <65 | III/IV | Chemotherapy | taxol | SD |