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 |
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 |
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:00719021 | Colorectum | MSS | positive regulation of protein serine/threonine kinase activity | 55/3467 | 200/18723 | 1.12e-03 | 1.11e-02 | 55 |
GO:19022351 | Colorectum | MSS | regulation of endoplasmic reticulum stress-induced intrinsic apoptotic signaling pathway | 13/3467 | 32/18723 | 3.00e-03 | 2.30e-02 | 13 |
GO:00510511 | Colorectum | MSS | negative regulation of transport | 110/3467 | 470/18723 | 4.20e-03 | 3.04e-02 | 110 |
GO:20012423 | Colorectum | MSI-H | regulation of intrinsic apoptotic signaling pathway | 40/1319 | 164/18723 | 2.39e-12 | 4.91e-10 | 40 |
GO:20012333 | Colorectum | MSI-H | regulation of apoptotic signaling pathway | 61/1319 | 356/18723 | 7.62e-11 | 1.37e-08 | 61 |
GO:00971933 | Colorectum | MSI-H | intrinsic apoptotic signaling pathway | 52/1319 | 288/18723 | 2.82e-10 | 4.23e-08 | 52 |
GO:00349763 | Colorectum | MSI-H | response to endoplasmic reticulum stress | 39/1319 | 256/18723 | 4.12e-06 | 2.20e-04 | 39 |
GO:00064573 | Colorectum | MSI-H | protein folding | 33/1319 | 212/18723 | 1.40e-05 | 6.29e-04 | 33 |
GO:19058973 | Colorectum | MSI-H | regulation of response to endoplasmic reticulum stress | 16/1319 | 82/18723 | 1.67e-04 | 4.69e-03 | 16 |
GO:00336743 | Colorectum | MSI-H | positive regulation of kinase activity | 53/1319 | 467/18723 | 3.99e-04 | 8.98e-03 | 53 |
GO:00458603 | Colorectum | MSI-H | positive regulation of protein kinase activity | 45/1319 | 386/18723 | 6.03e-04 | 1.19e-02 | 45 |
GO:009719316 | Endometrium | AEH | intrinsic apoptotic signaling pathway | 75/2100 | 288/18723 | 1.46e-12 | 2.83e-10 | 75 |
GO:000645710 | Endometrium | AEH | protein folding | 61/2100 | 212/18723 | 1.86e-12 | 3.48e-10 | 61 |
GO:200123316 | Endometrium | AEH | regulation of apoptotic signaling pathway | 86/2100 | 356/18723 | 2.97e-12 | 4.95e-10 | 86 |
GO:200124216 | Endometrium | AEH | regulation of intrinsic apoptotic signaling pathway | 49/2100 | 164/18723 | 6.39e-11 | 8.16e-09 | 49 |
GO:003497616 | Endometrium | AEH | response to endoplasmic reticulum stress | 62/2100 | 256/18723 | 2.88e-09 | 2.13e-07 | 62 |
GO:00434105 | Endometrium | AEH | positive regulation of MAPK cascade | 84/2100 | 480/18723 | 2.19e-05 | 4.25e-04 | 84 |
GO:007005910 | Endometrium | AEH | intrinsic apoptotic signaling pathway in response to endoplasmic reticulum stress | 18/2100 | 63/18723 | 1.32e-04 | 1.80e-03 | 18 |
GO:00510515 | Endometrium | AEH | negative regulation of transport | 79/2100 | 470/18723 | 1.51e-04 | 1.99e-03 | 79 |
GO:003367414 | Endometrium | AEH | positive regulation of kinase activity | 78/2100 | 467/18723 | 2.03e-04 | 2.54e-03 | 78 |
Pathway ID | Tissue | Disease Stage | Description | Gene Ratio | Bg Ratio | pvalue | p.adjust | qvalue | Count |
hsa0414120 | Cervix | CC | Protein processing in endoplasmic reticulum | 55/1267 | 174/8465 | 1.74e-08 | 2.68e-07 | 1.58e-07 | 55 |
hsa04141110 | Cervix | CC | Protein processing in endoplasmic reticulum | 55/1267 | 174/8465 | 1.74e-08 | 2.68e-07 | 1.58e-07 | 55 |
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 |
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 |
hsa041415 | Colorectum | MSS | Protein processing in endoplasmic reticulum | 75/1875 | 174/8465 | 3.78e-10 | 8.44e-09 | 5.17e-09 | 75 |
hsa041416 | Colorectum | MSI-H | Protein processing in endoplasmic reticulum | 46/797 | 174/8465 | 4.53e-11 | 9.78e-10 | 8.19e-10 | 46 |
hsa041417 | Colorectum | MSI-H | Protein processing in endoplasmic reticulum | 46/797 | 174/8465 | 4.53e-11 | 9.78e-10 | 8.19e-10 | 46 |
hsa0414126 | Endometrium | AEH | Protein processing in endoplasmic reticulum | 62/1197 | 174/8465 | 5.97e-13 | 1.39e-11 | 1.01e-11 | 62 |
hsa04141111 | Endometrium | AEH | Protein processing in endoplasmic reticulum | 62/1197 | 174/8465 | 5.97e-13 | 1.39e-11 | 1.01e-11 | 62 |
hsa0414127 | Endometrium | EEC | Protein processing in endoplasmic reticulum | 64/1237 | 174/8465 | 2.17e-13 | 5.09e-12 | 3.80e-12 | 64 |
hsa0414136 | Endometrium | EEC | Protein processing in endoplasmic reticulum | 64/1237 | 174/8465 | 2.17e-13 | 5.09e-12 | 3.80e-12 | 64 |
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 |
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 |
ERP29 | SNV | Missense_Mutation | rs755173279 | c.364N>T | p.Arg122Trp | p.R122W | P30040 | protein_coding | tolerated(0.19) | benign(0.003) | TCGA-A8-A06R-01 | Breast | breast invasive carcinoma | Female | >=65 | I/II | Chemotherapy | 5-fluorouracil | CR |
ERP29 | SNV | Missense_Mutation | | c.200N>A | p.Gly67Asp | p.G67D | P30040 | protein_coding | deleterious(0) | probably_damaging(0.998) | TCGA-BH-A18U-01 | Breast | breast invasive carcinoma | Female | >=65 | III/IV | Unknown | Unknown | SD |
ERP29 | deletion | Frame_Shift_Del | novel | c.476delC | p.Pro159LeufsTer23 | p.P159Lfs*23 | P30040 | protein_coding | | | TCGA-A7-A4SA-01 | Breast | breast invasive carcinoma | Female | <65 | I/II | Chemotherapy | doxorubicin | CR |
ERP29 | insertion | In_Frame_Ins | novel | c.277_278insCTAGCT | p.Ile93delinsThrSerPhe | p.I93delinsTSF | P30040 | protein_coding | | | TCGA-BH-A0HF-01 | Breast | breast invasive carcinoma | Female | >=65 | I/II | Hormone Therapy | arimidex | SD |
ERP29 | insertion | Nonsense_Mutation | novel | c.282_283insTACTAATGG | p.Ser94_Asp95insTyrTerTrp | p.S94_D95insY*W | P30040 | protein_coding | | | TCGA-BH-A0HK-01 | Breast | breast invasive carcinoma | Female | >=65 | I/II | Hormone Therapy | arimidex | SD |
ERP29 | SNV | Missense_Mutation | | c.699N>A | p.Met233Ile | p.M233I | P30040 | protein_coding | tolerated(0.41) | benign(0.003) | TCGA-DR-A0ZL-01 | Cervix | cervical & endocervical cancer | Female | <65 | I/II | Unknown | Unknown | SD |
ERP29 | SNV | Missense_Mutation | rs201620890 | c.484N>A | p.Asp162Asn | p.D162N | P30040 | protein_coding | deleterious(0.01) | benign(0.394) | TCGA-EA-A3HS-01 | Cervix | cervical & endocervical cancer | Female | <65 | I/II | Unknown | Unknown | SD |
ERP29 | SNV | Missense_Mutation | | c.549N>C | p.Gln183His | p.Q183H | P30040 | protein_coding | deleterious(0.02) | benign(0.132) | TCGA-IR-A3LK-01 | Cervix | cervical & endocervical cancer | Female | >=65 | I/II | Chemotherapy | cisplatin | PD |
ERP29 | SNV | Missense_Mutation | rs146674309 | c.358N>T | p.Leu120Phe | p.L120F | P30040 | protein_coding | deleterious(0) | possibly_damaging(0.814) | TCGA-D5-6533-01 | Colorectum | colon adenocarcinoma | Female | >=65 | I/II | Chemotherapy | oxaliplatin | CR |
ERP29 | SNV | Missense_Mutation | | c.677N>T | p.Arg226Met | p.R226M | P30040 | protein_coding | deleterious(0.01) | benign(0.398) | TCGA-AP-A059-01 | Endometrium | uterine corpus endometrioid carcinoma | Female | >=65 | I/II | Unknown | Unknown | SD |