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 |
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 |
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:0022411112 | Skin | cSCC | cellular component disassembly | 201/4864 | 443/18723 | 4.09e-19 | 5.69e-17 | 201 |
GO:006113629 | Skin | cSCC | regulation of proteasomal protein catabolic process | 106/4864 | 187/18723 | 4.31e-19 | 5.87e-17 | 106 |
GO:001598026 | Skin | cSCC | energy derivation by oxidation of organic compounds | 154/4864 | 318/18723 | 4.19e-18 | 5.15e-16 | 154 |
GO:190332029 | Skin | cSCC | regulation of protein modification by small protein conjugation or removal | 125/4864 | 242/18723 | 9.50e-18 | 1.05e-15 | 125 |
GO:0034976112 | Skin | cSCC | response to endoplasmic reticulum stress | 128/4864 | 256/18723 | 1.16e-16 | 1.17e-14 | 128 |
GO:003243429 | Skin | cSCC | regulation of proteasomal ubiquitin-dependent protein catabolic process | 80/4864 | 134/18723 | 1.54e-16 | 1.49e-14 | 80 |
GO:0035966112 | Skin | cSCC | response to topologically incorrect protein | 90/4864 | 159/18723 | 2.26e-16 | 2.12e-14 | 90 |
GO:200005829 | Skin | cSCC | regulation of ubiquitin-dependent protein catabolic process | 92/4864 | 164/18723 | 2.30e-16 | 2.12e-14 | 92 |
GO:004586229 | Skin | cSCC | positive regulation of proteolysis | 169/4864 | 372/18723 | 2.43e-16 | 2.21e-14 | 169 |
GO:190285016 | Skin | cSCC | microtubule cytoskeleton organization involved in mitosis | 85/4864 | 147/18723 | 2.66e-16 | 2.39e-14 | 85 |
GO:000705215 | Skin | cSCC | mitotic spindle organization | 73/4864 | 120/18723 | 7.81e-16 | 6.80e-14 | 73 |
GO:000989628 | Skin | cSCC | positive regulation of catabolic process | 206/4864 | 492/18723 | 6.06e-15 | 4.64e-13 | 206 |
GO:0019079112 | Skin | cSCC | viral genome replication | 76/4864 | 131/18723 | 7.80e-15 | 5.76e-13 | 76 |
GO:001623619 | Skin | cSCC | macroautophagy | 136/4864 | 291/18723 | 1.36e-14 | 9.78e-13 | 136 |
GO:0006986112 | Skin | cSCC | response to unfolded protein | 78/4864 | 137/18723 | 1.44e-14 | 1.03e-12 | 78 |
GO:190336429 | Skin | cSCC | positive regulation of cellular protein catabolic process | 85/4864 | 155/18723 | 1.87e-14 | 1.31e-12 | 85 |
GO:000705115 | Skin | cSCC | spindle organization | 96/4864 | 184/18723 | 2.59e-14 | 1.77e-12 | 96 |
GO:003133128 | Skin | cSCC | positive regulation of cellular catabolic process | 182/4864 | 427/18723 | 3.29e-14 | 2.22e-12 | 182 |
GO:004573229 | Skin | cSCC | positive regulation of protein catabolic process | 112/4864 | 231/18723 | 1.37e-13 | 8.40e-12 | 112 |
GO:000688810 | Skin | cSCC | endoplasmic reticulum to Golgi vesicle-mediated transport | 73/4864 | 130/18723 | 2.60e-13 | 1.57e-11 | 73 |
Pathway ID | Tissue | Disease Stage | Description | Gene Ratio | Bg Ratio | pvalue | p.adjust | qvalue | Count |
hsa0501416 | Breast | Precancer | Amyotrophic lateral sclerosis | 98/684 | 364/8465 | 2.13e-28 | 8.41e-27 | 6.44e-27 | 98 |
hsa0502216 | Breast | Precancer | Pathways of neurodegeneration - multiple diseases | 112/684 | 476/8465 | 6.96e-27 | 2.44e-25 | 1.87e-25 | 112 |
hsa0513414 | Breast | Precancer | Legionellosis | 19/684 | 57/8465 | 4.62e-08 | 9.12e-07 | 6.98e-07 | 19 |
hsa0414118 | Breast | Precancer | Protein processing in endoplasmic reticulum | 33/684 | 174/8465 | 2.78e-06 | 3.83e-05 | 2.94e-05 | 33 |
hsa0501417 | Breast | Precancer | Amyotrophic lateral sclerosis | 98/684 | 364/8465 | 2.13e-28 | 8.41e-27 | 6.44e-27 | 98 |
hsa0502217 | Breast | Precancer | Pathways of neurodegeneration - multiple diseases | 112/684 | 476/8465 | 6.96e-27 | 2.44e-25 | 1.87e-25 | 112 |
hsa0513415 | Breast | Precancer | Legionellosis | 19/684 | 57/8465 | 4.62e-08 | 9.12e-07 | 6.98e-07 | 19 |
hsa0414119 | Breast | Precancer | Protein processing in endoplasmic reticulum | 33/684 | 174/8465 | 2.78e-06 | 3.83e-05 | 2.94e-05 | 33 |
hsa0501423 | Breast | IDC | Amyotrophic lateral sclerosis | 102/867 | 364/8465 | 1.29e-22 | 5.22e-21 | 3.91e-21 | 102 |
hsa0502223 | Breast | IDC | Pathways of neurodegeneration - multiple diseases | 116/867 | 476/8465 | 3.63e-20 | 1.18e-18 | 8.82e-19 | 116 |
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 |
hsa0501433 | Breast | IDC | Amyotrophic lateral sclerosis | 102/867 | 364/8465 | 1.29e-22 | 5.22e-21 | 3.91e-21 | 102 |
hsa0502233 | Breast | IDC | Pathways of neurodegeneration - multiple diseases | 116/867 | 476/8465 | 3.63e-20 | 1.18e-18 | 8.82e-19 | 116 |
hsa0513432 | Breast | IDC | Legionellosis | 19/867 | 57/8465 | 1.89e-06 | 3.07e-05 | 2.29e-05 | 19 |
hsa0414134 | Breast | IDC | Protein processing in endoplasmic reticulum | 36/867 | 174/8465 | 2.73e-05 | 2.86e-04 | 2.14e-04 | 36 |
hsa0501443 | Breast | DCIS | Amyotrophic lateral sclerosis | 101/846 | 364/8465 | 7.14e-23 | 2.88e-21 | 2.12e-21 | 101 |
hsa0502243 | Breast | DCIS | Pathways of neurodegeneration - multiple diseases | 114/846 | 476/8465 | 4.74e-20 | 1.53e-18 | 1.13e-18 | 114 |
hsa0513441 | Breast | DCIS | Legionellosis | 19/846 | 57/8465 | 1.30e-06 | 2.10e-05 | 1.55e-05 | 19 |
hsa0414143 | Breast | DCIS | Protein processing in endoplasmic reticulum | 36/846 | 174/8465 | 1.60e-05 | 1.91e-04 | 1.41e-04 | 36 |
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 |
VCP | SNV | Missense_Mutation | rs748091463 | c.211G>A | p.Val71Ile | p.V71I | P55072 | protein_coding | tolerated(0.09) | benign(0.013) | TCGA-A8-A07B-01 | Breast | breast invasive carcinoma | Female | >=65 | I/II | Unknown | Unknown | SD |
VCP | SNV | Missense_Mutation | | c.574N>C | p.Glu192Gln | p.E192Q | P55072 | protein_coding | deleterious(0.02) | possibly_damaging(0.669) | TCGA-A8-A095-01 | Breast | breast invasive carcinoma | Female | <65 | I/II | Chemotherapy | 5-fluorouracil | CR |
VCP | SNV | Missense_Mutation | | c.764C>T | p.Ala255Val | p.A255V | P55072 | protein_coding | deleterious(0.01) | probably_damaging(0.999) | TCGA-AN-A0AK-01 | Breast | breast invasive carcinoma | Female | >=65 | I/II | Unknown | Unknown | SD |
VCP | SNV | Missense_Mutation | | c.1675G>A | p.Val559Ile | p.V559I | P55072 | protein_coding | tolerated(0.34) | possibly_damaging(0.863) | TCGA-AR-A0TT-01 | Breast | breast invasive carcinoma | Female | <65 | III/IV | Chemotherapy | doxorubicin | SD |
VCP | SNV | Missense_Mutation | | c.186G>C | p.Lys62Asn | p.K62N | P55072 | protein_coding | deleterious(0.02) | probably_damaging(0.979) | TCGA-E2-A10C-01 | Breast | breast invasive carcinoma | Female | <65 | I/II | Chemotherapy | cytoxan | SD |
VCP | insertion | Nonsense_Mutation | novel | c.1128_1129insACCTACTGTTCTTAGGTTTGAGG | p.Arg377ThrfsTer5 | p.R377Tfs*5 | P55072 | protein_coding | | | TCGA-BH-A0EE-01 | Breast | breast invasive carcinoma | Female | >=65 | I/II | Chemotherapy | docetaxel | SD |
VCP | deletion | Frame_Shift_Del | novel | c.1226delN | p.Ala409ValfsTer3 | p.A409Vfs*3 | P55072 | protein_coding | | | TCGA-D8-A27V-01 | Breast | breast invasive carcinoma | Female | <65 | I/II | Hormone Therapy | tamoxiphen | SD |
VCP | SNV | Missense_Mutation | | c.1271N>A | p.Arg424His | p.R424H | P55072 | protein_coding | deleterious(0) | probably_damaging(0.999) | TCGA-2W-A8YY-01 | Cervix | cervical & endocervical cancer | Female | <65 | I/II | Chemotherapy | cisplatin | CR |
VCP | SNV | Missense_Mutation | | c.85N>C | p.Asp29His | p.D29H | P55072 | protein_coding | deleterious(0) | probably_damaging(0.955) | TCGA-DS-A1OC-01 | Cervix | cervical & endocervical cancer | Female | <65 | I/II | Chemotherapy | gemcitabine | SD |
VCP | SNV | Missense_Mutation | | c.585A>T | p.Glu195Asp | p.E195D | P55072 | protein_coding | tolerated(0.21) | benign(0.017) | TCGA-EA-A1QS-01 | Cervix | cervical & endocervical cancer | Female | <65 | I/II | Unknown | Unknown | SD |