Tissue | Expression Dynamics | Abbreviation |
Breast | | IDC: Invasive ductal carcinoma |
DCIS: Ductal carcinoma in situ |
Precancer(BRCA1-mut): Precancerous lesion from BRCA1 mutation carriers |
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 |
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 |
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:001905817 | Endometrium | EEC | viral life cycle | 86/2168 | 317/18723 | 1.63e-14 | 4.65e-12 | 86 |
GO:190331115 | Endometrium | EEC | regulation of mRNA metabolic process | 79/2168 | 288/18723 | 1.01e-13 | 2.64e-11 | 79 |
GO:003164717 | Endometrium | EEC | regulation of protein stability | 80/2168 | 298/18723 | 2.48e-13 | 5.96e-11 | 80 |
GO:004802417 | Endometrium | EEC | regulation of mRNA splicing, via spliceosome | 40/2168 | 101/18723 | 4.45e-13 | 9.86e-11 | 40 |
GO:000645715 | Endometrium | EEC | protein folding | 63/2168 | 212/18723 | 6.82e-13 | 1.40e-10 | 63 |
GO:004440317 | Endometrium | EEC | biological process involved in symbiotic interaction | 73/2168 | 290/18723 | 7.47e-11 | 9.95e-09 | 73 |
GO:007259415 | Endometrium | EEC | establishment of protein localization to organelle | 94/2168 | 422/18723 | 2.22e-10 | 2.51e-08 | 94 |
GO:001907917 | Endometrium | EEC | viral genome replication | 42/2168 | 131/18723 | 3.43e-10 | 3.61e-08 | 42 |
GO:005068414 | Endometrium | EEC | regulation of mRNA processing | 43/2168 | 137/18723 | 4.52e-10 | 4.59e-08 | 43 |
GO:190290317 | Endometrium | EEC | regulation of supramolecular fiber organization | 82/2168 | 383/18723 | 2.11e-08 | 1.25e-06 | 82 |
GO:000660517 | Endometrium | EEC | protein targeting | 69/2168 | 314/18723 | 9.61e-08 | 4.69e-06 | 69 |
GO:003312016 | Endometrium | EEC | positive regulation of RNA splicing | 17/2168 | 37/18723 | 1.84e-07 | 8.37e-06 | 17 |
GO:003596617 | Endometrium | EEC | response to topologically incorrect protein | 41/2168 | 159/18723 | 5.20e-07 | 2.00e-05 | 41 |
GO:000698617 | Endometrium | EEC | response to unfolded protein | 37/2168 | 137/18723 | 5.40e-07 | 2.04e-05 | 37 |
GO:006107715 | Endometrium | EEC | chaperone-mediated protein folding | 23/2168 | 67/18723 | 8.50e-07 | 2.98e-05 | 23 |
GO:004325417 | Endometrium | EEC | regulation of protein-containing complex assembly | 83/2168 | 428/18723 | 1.44e-06 | 4.64e-05 | 83 |
GO:190290415 | Endometrium | EEC | negative regulation of supramolecular fiber organization | 40/2168 | 167/18723 | 5.23e-06 | 1.28e-04 | 40 |
GO:190331313 | Endometrium | EEC | positive regulation of mRNA metabolic process | 31/2168 | 118/18723 | 8.11e-06 | 1.81e-04 | 31 |
GO:002241116 | Endometrium | EEC | cellular component disassembly | 82/2168 | 443/18723 | 1.06e-05 | 2.26e-04 | 82 |
GO:004202615 | Endometrium | EEC | protein refolding | 11/2168 | 23/18723 | 1.75e-05 | 3.32e-04 | 11 |
Pathway ID | Tissue | Disease Stage | Description | Gene Ratio | Bg Ratio | pvalue | p.adjust | qvalue | Count |
hsa0502016 | Breast | Precancer | Prion disease | 95/684 | 273/8465 | 1.39e-37 | 1.46e-35 | 1.12e-35 | 95 |
hsa0513414 | Breast | Precancer | Legionellosis | 19/684 | 57/8465 | 4.62e-08 | 9.12e-07 | 6.98e-07 | 19 |
hsa030408 | Breast | Precancer | Spliceosome | 39/684 | 217/8465 | 1.44e-06 | 2.27e-05 | 1.74e-05 | 39 |
hsa0414118 | Breast | Precancer | Protein processing in endoplasmic reticulum | 33/684 | 174/8465 | 2.78e-06 | 3.83e-05 | 2.94e-05 | 33 |
hsa0491518 | Breast | Precancer | Estrogen signaling pathway | 28/684 | 138/8465 | 4.10e-06 | 5.39e-05 | 4.13e-05 | 28 |
hsa0541718 | Breast | Precancer | Lipid and atherosclerosis | 37/684 | 215/8465 | 7.64e-06 | 9.29e-05 | 7.12e-05 | 37 |
hsa0461218 | Breast | Precancer | Antigen processing and presentation | 19/684 | 78/8465 | 9.61e-06 | 1.12e-04 | 8.62e-05 | 19 |
hsa0502017 | Breast | Precancer | Prion disease | 95/684 | 273/8465 | 1.39e-37 | 1.46e-35 | 1.12e-35 | 95 |
hsa0513415 | Breast | Precancer | Legionellosis | 19/684 | 57/8465 | 4.62e-08 | 9.12e-07 | 6.98e-07 | 19 |
hsa0304013 | Breast | Precancer | Spliceosome | 39/684 | 217/8465 | 1.44e-06 | 2.27e-05 | 1.74e-05 | 39 |
hsa0414119 | Breast | Precancer | Protein processing in endoplasmic reticulum | 33/684 | 174/8465 | 2.78e-06 | 3.83e-05 | 2.94e-05 | 33 |
hsa0491519 | Breast | Precancer | Estrogen signaling pathway | 28/684 | 138/8465 | 4.10e-06 | 5.39e-05 | 4.13e-05 | 28 |
hsa0541719 | Breast | Precancer | Lipid and atherosclerosis | 37/684 | 215/8465 | 7.64e-06 | 9.29e-05 | 7.12e-05 | 37 |
hsa0461219 | Breast | Precancer | Antigen processing and presentation | 19/684 | 78/8465 | 9.61e-06 | 1.12e-04 | 8.62e-05 | 19 |
hsa0502023 | Breast | IDC | Prion disease | 102/867 | 273/8465 | 3.70e-34 | 4.01e-32 | 3.00e-32 | 102 |
hsa0491523 | Breast | IDC | Estrogen signaling pathway | 35/867 | 138/8465 | 2.55e-07 | 5.18e-06 | 3.88e-06 | 35 |
hsa0461223 | Breast | IDC | Antigen processing and presentation | 24/867 | 78/8465 | 4.61e-07 | 8.33e-06 | 6.23e-06 | 24 |
hsa0513422 | Breast | IDC | Legionellosis | 19/867 | 57/8465 | 1.89e-06 | 3.07e-05 | 2.29e-05 | 19 |
hsa0414124 | Breast | IDC | Protein processing in endoplasmic reticulum | 36/867 | 174/8465 | 2.73e-05 | 2.86e-04 | 2.14e-04 | 36 |
hsa0304023 | Breast | IDC | Spliceosome | 40/867 | 217/8465 | 1.53e-04 | 1.42e-03 | 1.06e-03 | 40 |
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 |
HSPA8 | SNV | Missense_Mutation | | c.696T>G | p.Asp232Glu | p.D232E | P11142 | protein_coding | deleterious_low_confidence(0.02) | benign(0.036) | TCGA-A2-A0EV-01 | Breast | breast invasive carcinoma | Female | >=65 | I/II | Unknown | Unknown | SD |
HSPA8 | SNV | Missense_Mutation | | c.71G>A | p.Gly24Glu | p.G24E | P11142 | protein_coding | deleterious_low_confidence(0.02) | probably_damaging(0.957) | TCGA-AC-A23H-01 | Breast | breast invasive carcinoma | Female | >=65 | I/II | Unknown | Unknown | PD |
HSPA8 | SNV | Missense_Mutation | | c.1419N>C | p.Gln473His | p.Q473H | P11142 | protein_coding | deleterious_low_confidence(0) | probably_damaging(0.957) | TCGA-AO-A0J6-01 | Breast | breast invasive carcinoma | Female | <65 | I/II | Chemotherapy | doxorubicin | SD |
HSPA8 | SNV | Missense_Mutation | novel | c.1392N>G | p.Ile464Met | p.I464M | P11142 | protein_coding | deleterious_low_confidence(0.01) | probably_damaging(0.978) | TCGA-BH-A18G-01 | Breast | breast invasive carcinoma | Female | >=65 | I/II | Unknown | Unknown | SD |
HSPA8 | SNV | Missense_Mutation | novel | c.172N>G | p.Gln58Glu | p.Q58E | P11142 | protein_coding | deleterious_low_confidence(0) | probably_damaging(0.958) | TCGA-PE-A5DE-01 | Breast | breast invasive carcinoma | Female | <65 | I/II | Chemotherapy | taxotere | CR |
HSPA8 | insertion | Frame_Shift_Ins | novel | c.1635_1636insT | p.Ala546CysfsTer9 | p.A546Cfs*9 | P11142 | protein_coding | | | TCGA-B6-A0I6-01 | Breast | breast invasive carcinoma | Female | <65 | I/II | Unknown | Unknown | PD |
HSPA8 | insertion | Nonsense_Mutation | novel | c.1633_1634insCCCTCTGGTGGTGCTTCCTCAGGGCCCACCATTGAAGAGGTTG | p.Tyr545SerfsTer12 | p.Y545Sfs*12 | P11142 | protein_coding | | | TCGA-B6-A0I6-01 | Breast | breast invasive carcinoma | Female | <65 | I/II | Unknown | Unknown | PD |
HSPA8 | SNV | Missense_Mutation | novel | c.112N>G | p.Thr38Ala | p.T38A | P11142 | protein_coding | deleterious_low_confidence(0.01) | benign(0.135) | TCGA-2W-A8YY-01 | Cervix | cervical & endocervical cancer | Female | <65 | I/II | Chemotherapy | cisplatin | CR |
HSPA8 | SNV | Missense_Mutation | | c.261N>A | p.Met87Ile | p.M87I | P11142 | protein_coding | tolerated_low_confidence(0.16) | benign(0.012) | TCGA-EK-A2PG-01 | Cervix | cervical & endocervical cancer | Female | >=65 | I/II | Unknown | Unknown | SD |
HSPA8 | SNV | Missense_Mutation | | c.1936N>C | p.Asp646His | p.D646H | P11142 | protein_coding | deleterious_low_confidence(0) | probably_damaging(0.969) | TCGA-EK-A2R8-01 | Cervix | cervical & endocervical cancer | Female | <65 | I/II | Unknown | Unknown | SD |