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:000914426 | Thyroid | PTC | purine nucleoside triphosphate metabolic process | 53/5968 | 88/18723 | 3.91e-08 | 8.51e-07 | 53 |
GO:0060070110 | Thyroid | PTC | canonical Wnt signaling pathway | 141/5968 | 303/18723 | 5.71e-08 | 1.21e-06 | 141 |
GO:001969327 | Thyroid | PTC | ribose phosphate metabolic process | 176/5968 | 396/18723 | 8.28e-08 | 1.70e-06 | 176 |
GO:000915028 | Thyroid | PTC | purine ribonucleotide metabolic process | 165/5968 | 368/18723 | 1.03e-07 | 2.05e-06 | 165 |
GO:000920526 | Thyroid | PTC | purine ribonucleoside triphosphate metabolic process | 49/5968 | 82/18723 | 1.78e-07 | 3.33e-06 | 49 |
GO:007252127 | Thyroid | PTC | purine-containing compound metabolic process | 182/5968 | 416/18723 | 1.92e-07 | 3.51e-06 | 182 |
GO:000704115 | Thyroid | PTC | lysosomal transport | 63/5968 | 114/18723 | 1.97e-07 | 3.54e-06 | 63 |
GO:00309708 | Thyroid | PTC | retrograde protein transport, ER to cytosol | 23/5968 | 29/18723 | 1.99e-07 | 3.56e-06 | 23 |
GO:19035138 | Thyroid | PTC | endoplasmic reticulum to cytosol transport | 23/5968 | 29/18723 | 1.99e-07 | 3.56e-06 | 23 |
GO:000705116 | Thyroid | PTC | spindle organization | 92/5968 | 184/18723 | 2.21e-07 | 3.92e-06 | 92 |
GO:000914127 | Thyroid | PTC | nucleoside triphosphate metabolic process | 62/5968 | 112/18723 | 2.26e-07 | 4.00e-06 | 62 |
GO:000925927 | Thyroid | PTC | ribonucleotide metabolic process | 170/5968 | 385/18723 | 2.32e-07 | 4.08e-06 | 170 |
GO:190332210 | Thyroid | PTC | positive regulation of protein modification by small protein conjugation or removal | 73/5968 | 138/18723 | 2.34e-07 | 4.11e-06 | 73 |
GO:00719858 | Thyroid | PTC | multivesicular body sorting pathway | 27/5968 | 37/18723 | 3.42e-07 | 5.75e-06 | 27 |
GO:19028509 | Thyroid | PTC | microtubule cytoskeleton organization involved in mitosis | 76/5968 | 147/18723 | 4.49e-07 | 7.38e-06 | 76 |
GO:00325279 | Thyroid | PTC | protein exit from endoplasmic reticulum | 32/5968 | 48/18723 | 7.77e-07 | 1.20e-05 | 32 |
GO:000705216 | Thyroid | PTC | mitotic spindle organization | 64/5968 | 120/18723 | 8.69e-07 | 1.32e-05 | 64 |
GO:0043467110 | Thyroid | PTC | regulation of generation of precursor metabolites and energy | 68/5968 | 130/18723 | 1.03e-06 | 1.52e-05 | 68 |
GO:003017719 | Thyroid | PTC | positive regulation of Wnt signaling pathway | 72/5968 | 140/18723 | 1.16e-06 | 1.69e-05 | 72 |
GO:000919920 | Thyroid | PTC | ribonucleoside triphosphate metabolic process | 50/5968 | 89/18723 | 1.81e-06 | 2.50e-05 | 50 |
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 |