Tissue | Expression Dynamics | Abbreviation |
Breast | | IDC: Invasive ductal carcinoma |
DCIS: Ductal carcinoma in situ |
Precancer(BRCA1-mut): Precancerous lesion from BRCA1 mutation carriers |
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 |
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 |
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:00061202 | Colorectum | MSS | mitochondrial electron transport, NADH to ubiquinone | 31/3467 | 51/18723 | 2.73e-11 | 3.67e-09 | 31 |
GO:00432542 | Colorectum | MSS | regulation of protein-containing complex assembly | 130/3467 | 428/18723 | 1.38e-09 | 1.03e-07 | 130 |
GO:00064172 | Colorectum | MSS | regulation of translation | 134/3467 | 468/18723 | 4.43e-08 | 2.38e-06 | 134 |
GO:00066052 | Colorectum | MSS | protein targeting | 97/3467 | 314/18723 | 6.76e-08 | 3.46e-06 | 97 |
GO:00323862 | Colorectum | MSS | regulation of intracellular transport | 102/3467 | 337/18723 | 9.73e-08 | 4.71e-06 | 102 |
GO:00160502 | Colorectum | MSS | vesicle organization | 93/3467 | 300/18723 | 1.04e-07 | 4.97e-06 | 93 |
GO:00064572 | Colorectum | MSS | protein folding | 71/3467 | 212/18723 | 1.25e-07 | 5.91e-06 | 71 |
GO:00164822 | Colorectum | MSS | cytosolic transport | 59/3467 | 168/18723 | 2.29e-07 | 9.79e-06 | 59 |
GO:19905422 | Colorectum | MSS | mitochondrial transmembrane transport | 41/3467 | 102/18723 | 2.70e-07 | 1.11e-05 | 41 |
GO:00705852 | Colorectum | MSS | protein localization to mitochondrion | 47/3467 | 125/18723 | 3.98e-07 | 1.58e-05 | 47 |
GO:00434672 | Colorectum | MSS | regulation of generation of precursor metabolites and energy | 47/3467 | 130/18723 | 1.47e-06 | 4.85e-05 | 47 |
GO:00726552 | Colorectum | MSS | establishment of protein localization to mitochondrion | 44/3467 | 120/18723 | 2.03e-06 | 6.28e-05 | 44 |
GO:00170382 | Colorectum | MSS | protein import | 65/3467 | 206/18723 | 4.28e-06 | 1.22e-04 | 65 |
GO:19035782 | Colorectum | MSS | regulation of ATP metabolic process | 34/3467 | 87/18723 | 5.76e-06 | 1.53e-04 | 34 |
GO:00316672 | Colorectum | MSS | response to nutrient levels | 125/3467 | 474/18723 | 1.24e-05 | 2.88e-04 | 125 |
GO:00507082 | Colorectum | MSS | regulation of protein secretion | 78/3467 | 268/18723 | 1.47e-05 | 3.33e-04 | 78 |
GO:00458612 | Colorectum | MSS | negative regulation of proteolysis | 97/3467 | 351/18723 | 1.57e-05 | 3.54e-04 | 97 |
GO:00093062 | Colorectum | MSS | protein secretion | 98/3467 | 359/18723 | 2.43e-05 | 5.09e-04 | 98 |
GO:00066262 | Colorectum | MSS | protein targeting to mitochondrion | 36/3467 | 100/18723 | 2.65e-05 | 5.46e-04 | 36 |
GO:00355922 | Colorectum | MSS | establishment of protein localization to extracellular region | 98/3467 | 360/18723 | 2.75e-05 | 5.58e-04 | 98 |
Pathway ID | Tissue | Disease Stage | Description | Gene Ratio | Bg Ratio | pvalue | p.adjust | qvalue | Count |
hsa0414124 | Breast | IDC | Protein processing in endoplasmic reticulum | 36/867 | 174/8465 | 2.73e-05 | 2.86e-04 | 2.14e-04 | 36 |
hsa0414134 | Breast | IDC | Protein processing in endoplasmic reticulum | 36/867 | 174/8465 | 2.73e-05 | 2.86e-04 | 2.14e-04 | 36 |
hsa0414143 | Breast | DCIS | Protein processing in endoplasmic reticulum | 36/846 | 174/8465 | 1.60e-05 | 1.91e-04 | 1.41e-04 | 36 |
hsa0414153 | Breast | DCIS | Protein processing in endoplasmic reticulum | 36/846 | 174/8465 | 1.60e-05 | 1.91e-04 | 1.41e-04 | 36 |
hsa04141 | Colorectum | AD | Protein processing in endoplasmic reticulum | 80/2092 | 174/8465 | 5.96e-10 | 1.25e-08 | 7.96e-09 | 80 |
hsa041411 | Colorectum | AD | Protein processing in endoplasmic reticulum | 80/2092 | 174/8465 | 5.96e-10 | 1.25e-08 | 7.96e-09 | 80 |
hsa041414 | Colorectum | MSS | Protein processing in endoplasmic reticulum | 75/1875 | 174/8465 | 3.78e-10 | 8.44e-09 | 5.17e-09 | 75 |
hsa041415 | Colorectum | MSS | Protein processing in endoplasmic reticulum | 75/1875 | 174/8465 | 3.78e-10 | 8.44e-09 | 5.17e-09 | 75 |
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 |
hsa0414139 | Esophagus | HGIN | Protein processing in endoplasmic reticulum | 67/1383 | 174/8465 | 1.06e-12 | 2.16e-11 | 1.72e-11 | 67 |
hsa04141114 | Esophagus | HGIN | Protein processing in endoplasmic reticulum | 67/1383 | 174/8465 | 1.06e-12 | 2.16e-11 | 1.72e-11 | 67 |
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 |
hsa0414116 | Lung | IAC | Protein processing in endoplasmic reticulum | 37/1053 | 174/8465 | 6.53e-04 | 5.73e-03 | 3.81e-03 | 37 |
hsa0414117 | Lung | IAC | Protein processing in endoplasmic reticulum | 37/1053 | 174/8465 | 6.53e-04 | 5.73e-03 | 3.81e-03 | 37 |
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 |
DNAJC1 | SNV | Missense_Mutation | | c.869N>T | p.Pro290Leu | p.P290L | Q96KC8 | protein_coding | deleterious(0.01) | benign(0.005) | TCGA-BH-A0HF-01 | Breast | breast invasive carcinoma | Female | >=65 | I/II | Hormone Therapy | arimidex | SD |
DNAJC1 | SNV | Missense_Mutation | | c.1644N>C | p.Lys548Asn | p.K548N | Q96KC8 | protein_coding | deleterious(0) | possibly_damaging(0.563) | TCGA-D8-A1JA-01 | Breast | breast invasive carcinoma | Female | <65 | III/IV | Chemotherapy | adriamycin | PD |
DNAJC1 | insertion | Frame_Shift_Ins | novel | c.1285_1286insTGATGGGGAAAGAGGCCTCTGCACAGGTGTTAGAATCC | p.Asp429ValfsTer58 | p.D429Vfs*58 | Q96KC8 | protein_coding | | | TCGA-A8-A07U-01 | Breast | breast invasive carcinoma | Female | >=65 | III/IV | Chemotherapy | 5-fluorouracil | SD |
DNAJC1 | SNV | Missense_Mutation | rs781526289 | c.1333N>T | p.Arg445Trp | p.R445W | Q96KC8 | protein_coding | deleterious(0) | probably_damaging(0.995) | TCGA-C5-A7CO-01 | Cervix | cervical & endocervical cancer | Female | >=65 | I/II | Chemotherapy | cisplatin | SD |
DNAJC1 | SNV | Missense_Mutation | | c.1252G>C | p.Glu418Gln | p.E418Q | Q96KC8 | protein_coding | tolerated(0.25) | benign(0.005) | TCGA-DR-A0ZM-01 | Cervix | cervical & endocervical cancer | Female | <65 | III/IV | Unspecific | Cisplatin | SD |
DNAJC1 | SNV | Missense_Mutation | | c.1180N>C | p.Val394Leu | p.V394L | Q96KC8 | protein_coding | tolerated(0.13) | benign(0.001) | TCGA-JW-A5VK-01 | Cervix | cervical & endocervical cancer | Female | <65 | I/II | Unknown | Unknown | SD |
DNAJC1 | SNV | Missense_Mutation | | c.1466N>C | p.Arg489Thr | p.R489T | Q96KC8 | protein_coding | tolerated(0.17) | benign(0.024) | TCGA-Q1-A73P-01 | Cervix | cervical & endocervical cancer | Female | <65 | I/II | Unknown | Unknown | SD |
DNAJC1 | SNV | Missense_Mutation | | c.1225N>A | p.Asp409Asn | p.D409N | Q96KC8 | protein_coding | tolerated(0.14) | benign(0.038) | TCGA-Q1-A73P-01 | Cervix | cervical & endocervical cancer | Female | <65 | I/II | Unknown | Unknown | SD |
DNAJC1 | SNV | Missense_Mutation | | c.332N>T | p.Ala111Val | p.A111V | Q96KC8 | protein_coding | deleterious(0) | probably_damaging(0.999) | TCGA-A6-6780-01 | Colorectum | colon adenocarcinoma | Male | >=65 | I/II | Unknown | Unknown | SD |
DNAJC1 | SNV | Missense_Mutation | | c.1439G>T | p.Ser480Ile | p.S480I | Q96KC8 | protein_coding | deleterious(0.03) | probably_damaging(0.994) | TCGA-AD-5900-01 | Colorectum | colon adenocarcinoma | Male | >=65 | I/II | Unknown | Unknown | SD |