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 |
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:000726521 | Liver | HCC | Ras protein signal transduction | 187/7958 | 337/18723 | 8.89e-07 | 1.35e-05 | 187 |
GO:190547711 | Liver | HCC | positive regulation of protein localization to membrane | 68/7958 | 106/18723 | 5.50e-06 | 6.82e-05 | 68 |
GO:000724912 | Liver | HCC | I-kappaB kinase/NF-kappaB signaling | 156/7958 | 281/18723 | 6.66e-06 | 8.00e-05 | 156 |
GO:004312212 | Liver | HCC | regulation of I-kappaB kinase/NF-kappaB signaling | 138/7958 | 249/18723 | 2.47e-05 | 2.58e-04 | 138 |
GO:003139722 | Liver | HCC | negative regulation of protein ubiquitination | 54/7958 | 83/18723 | 2.76e-05 | 2.86e-04 | 54 |
GO:0098780 | Liver | HCC | response to mitochondrial depolarisation | 17/7958 | 19/18723 | 2.93e-05 | 3.03e-04 | 17 |
GO:000042311 | Liver | HCC | mitophagy | 22/7958 | 28/18723 | 1.10e-04 | 9.41e-04 | 22 |
GO:190437712 | Liver | HCC | positive regulation of protein localization to cell periphery | 45/7958 | 69/18723 | 1.16e-04 | 9.80e-04 | 45 |
GO:190332122 | Liver | HCC | negative regulation of protein modification by small protein conjugation or removal | 58/7958 | 95/18723 | 2.01e-04 | 1.56e-03 | 58 |
GO:190307812 | Liver | HCC | positive regulation of protein localization to plasma membrane | 40/7958 | 62/18723 | 3.84e-04 | 2.62e-03 | 40 |
GO:004657811 | Liver | HCC | regulation of Ras protein signal transduction | 100/7958 | 189/18723 | 2.42e-03 | 1.18e-02 | 100 |
GO:190332132 | Liver | Cyst | negative regulation of protein modification by small protein conjugation or removal | 15/496 | 95/18723 | 2.84e-08 | 4.33e-06 | 15 |
GO:190332032 | Liver | Cyst | regulation of protein modification by small protein conjugation or removal | 24/496 | 242/18723 | 3.15e-08 | 4.64e-06 | 24 |
GO:003139732 | Liver | Cyst | negative regulation of protein ubiquitination | 14/496 | 83/18723 | 3.47e-08 | 4.80e-06 | 14 |
GO:003139632 | Liver | Cyst | regulation of protein ubiquitination | 22/496 | 210/18723 | 4.45e-08 | 5.94e-06 | 22 |
GO:002241119 | Oral cavity | OSCC | cellular component disassembly | 283/7305 | 443/18723 | 9.57e-27 | 3.37e-24 | 283 |
GO:001623610 | Oral cavity | OSCC | macroautophagy | 192/7305 | 291/18723 | 7.01e-21 | 1.14e-18 | 192 |
GO:190332020 | Oral cavity | OSCC | regulation of protein modification by small protein conjugation or removal | 165/7305 | 242/18723 | 2.52e-20 | 3.99e-18 | 165 |
GO:190382920 | Oral cavity | OSCC | positive regulation of cellular protein localization | 179/7305 | 276/18723 | 2.20e-18 | 2.41e-16 | 179 |
GO:003139620 | Oral cavity | OSCC | regulation of protein ubiquitination | 143/7305 | 210/18723 | 1.01e-17 | 9.80e-16 | 143 |
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 |
hsa0513118 | Breast | Precancer | Shigellosis | 44/684 | 247/8465 | 3.91e-07 | 6.86e-06 | 5.26e-06 | 44 |
hsa0541818 | Breast | Precancer | Fluid shear stress and atherosclerosis | 28/684 | 139/8465 | 4.74e-06 | 6.00e-05 | 4.59e-05 | 28 |
hsa042189 | Breast | Precancer | Cellular senescence | 29/684 | 156/8465 | 1.66e-05 | 1.69e-04 | 1.30e-04 | 29 |
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 |
hsa0513119 | Breast | Precancer | Shigellosis | 44/684 | 247/8465 | 3.91e-07 | 6.86e-06 | 5.26e-06 | 44 |
hsa0541819 | Breast | Precancer | Fluid shear stress and atherosclerosis | 28/684 | 139/8465 | 4.74e-06 | 6.00e-05 | 4.59e-05 | 28 |
hsa0421814 | Breast | Precancer | Cellular senescence | 29/684 | 156/8465 | 1.66e-05 | 1.69e-04 | 1.30e-04 | 29 |
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 |
hsa0541824 | Breast | IDC | Fluid shear stress and atherosclerosis | 34/867 | 139/8465 | 9.41e-07 | 1.61e-05 | 1.20e-05 | 34 |
hsa0421824 | Breast | IDC | Cellular senescence | 35/867 | 156/8465 | 5.49e-06 | 7.43e-05 | 5.56e-05 | 35 |
hsa0513124 | Breast | IDC | Shigellosis | 47/867 | 247/8465 | 1.78e-05 | 2.00e-04 | 1.49e-04 | 47 |
hsa0413723 | Breast | IDC | Mitophagy - animal | 17/867 | 72/8465 | 7.61e-04 | 6.04e-03 | 4.52e-03 | 17 |
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 |
hsa0541834 | Breast | IDC | Fluid shear stress and atherosclerosis | 34/867 | 139/8465 | 9.41e-07 | 1.61e-05 | 1.20e-05 | 34 |
hsa0421834 | Breast | IDC | Cellular senescence | 35/867 | 156/8465 | 5.49e-06 | 7.43e-05 | 5.56e-05 | 35 |
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 |
SQSTM1 | SNV | Missense_Mutation | novel | c.1260N>T | p.Lys420Asn | p.K420N | Q13501 | protein_coding | deleterious(0) | probably_damaging(0.999) | TCGA-AN-A046-01 | Breast | breast invasive carcinoma | Female | >=65 | I/II | Unknown | Unknown | SD |
SQSTM1 | SNV | Missense_Mutation | novel | c.465G>T | p.Glu155Asp | p.E155D | Q13501 | protein_coding | deleterious(0.01) | probably_damaging(0.952) | TCGA-AN-A0AK-01 | Breast | breast invasive carcinoma | Female | >=65 | I/II | Unknown | Unknown | SD |
SQSTM1 | SNV | Missense_Mutation | | c.494N>G | p.Lys165Arg | p.K165R | Q13501 | protein_coding | tolerated(0.15) | benign(0.425) | TCGA-B6-A0IJ-01 | Breast | breast invasive carcinoma | Female | <65 | I/II | Unknown | Unknown | SD |
SQSTM1 | SNV | Missense_Mutation | rs772889843 | c.1043N>T | p.Pro348Leu | p.P348L | Q13501 | protein_coding | deleterious(0) | probably_damaging(0.981) | TCGA-BH-A0HA-01 | Breast | breast invasive carcinoma | Female | <65 | I/II | Unknown | Unknown | SD |
SQSTM1 | deletion | Frame_Shift_Del | novel | c.321_328delNNNNNNNN | p.Asp108ProfsTer42 | p.D108Pfs*42 | Q13501 | protein_coding | | | TCGA-AN-A03X-01 | Breast | breast invasive carcinoma | Female | >=65 | I/II | Unknown | Unknown | SD |
SQSTM1 | insertion | Nonsense_Mutation | novel | c.1211_1212insTGAGCACTGAGTGAACCAGACTCCGTCTGCAATCCC | p.Met404delinsIleGluHisTerValAsnGlnThrProSerAlaIlePro | p.M404delinsIEH*VNQTPSAIP | Q13501 | protein_coding | | | TCGA-AR-A0TY-01 | Breast | breast invasive carcinoma | Female | <65 | I/II | Unspecific | Paclitaxel | PD |
SQSTM1 | SNV | Missense_Mutation | | c.1099C>G | p.Leu367Val | p.L367V | Q13501 | protein_coding | tolerated(0.11) | benign(0.007) | TCGA-FU-A5XV-01 | Cervix | cervical & endocervical cancer | Female | <65 | III/IV | Unknown | Unknown | SD |
SQSTM1 | SNV | Missense_Mutation | | c.850T>G | p.Ser284Ala | p.S284A | Q13501 | protein_coding | tolerated(0.42) | benign(0) | TCGA-AA-3492-01 | Colorectum | colon adenocarcinoma | Female | >=65 | I/II | Unknown | Unknown | SD |
SQSTM1 | SNV | Missense_Mutation | rs758625124 | c.481N>T | p.Arg161Trp | p.R161W | Q13501 | protein_coding | deleterious(0) | possibly_damaging(0.67) | TCGA-AA-3819-01 | Colorectum | colon adenocarcinoma | Female | <65 | I/II | Unknown | Unknown | SD |
SQSTM1 | SNV | Missense_Mutation | rs200551825 | c.1178N>A | p.Arg393Gln | p.R393Q | Q13501 | protein_coding | deleterious(0.01) | possibly_damaging(0.56) | TCGA-WS-AB45-01 | Colorectum | colon adenocarcinoma | Female | <65 | I/II | Unknown | Unknown | SD |