Tissue | Expression Dynamics | Abbreviation |
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:00323866 | Liver | NAFLD | regulation of intracellular transport | 49/1882 | 337/18723 | 5.34e-03 | 4.11e-02 | 49 |
GO:00516505 | Liver | NAFLD | establishment of vesicle localization | 27/1882 | 161/18723 | 5.47e-03 | 4.20e-02 | 27 |
GO:00323886 | Liver | NAFLD | positive regulation of intracellular transport | 32/1882 | 202/18723 | 6.42e-03 | 4.69e-02 | 32 |
GO:004819311 | Liver | Cirrhotic | Golgi vesicle transport | 153/4634 | 296/18723 | 1.02e-23 | 6.43e-21 | 153 |
GO:000688811 | Liver | Cirrhotic | endoplasmic reticulum to Golgi vesicle-mediated transport | 77/4634 | 130/18723 | 5.78e-17 | 7.56e-15 | 77 |
GO:003238611 | Liver | Cirrhotic | regulation of intracellular transport | 147/4634 | 337/18723 | 1.84e-14 | 1.72e-12 | 147 |
GO:001605011 | Liver | Cirrhotic | vesicle organization | 133/4634 | 300/18723 | 7.35e-14 | 6.41e-12 | 133 |
GO:003315711 | Liver | Cirrhotic | regulation of intracellular protein transport | 108/4634 | 229/18723 | 1.23e-13 | 1.04e-11 | 108 |
GO:000690012 | Liver | Cirrhotic | vesicle budding from membrane | 41/4634 | 61/18723 | 3.12e-12 | 2.25e-10 | 41 |
GO:190495112 | Liver | Cirrhotic | positive regulation of establishment of protein localization | 135/4634 | 319/18723 | 3.20e-12 | 2.28e-10 | 135 |
GO:004325412 | Liver | Cirrhotic | regulation of protein-containing complex assembly | 169/4634 | 428/18723 | 7.40e-12 | 4.99e-10 | 169 |
GO:005122212 | Liver | Cirrhotic | positive regulation of protein transport | 126/4634 | 303/18723 | 6.85e-11 | 3.77e-09 | 126 |
GO:003238811 | Liver | Cirrhotic | positive regulation of intracellular transport | 92/4634 | 202/18723 | 8.60e-11 | 4.66e-09 | 92 |
GO:009031611 | Liver | Cirrhotic | positive regulation of intracellular protein transport | 77/4634 | 160/18723 | 1.17e-10 | 6.21e-09 | 77 |
GO:009011411 | Liver | Cirrhotic | COPII-coated vesicle budding | 21/4634 | 29/18723 | 8.97e-08 | 2.63e-06 | 21 |
GO:00325271 | Liver | Cirrhotic | protein exit from endoplasmic reticulum | 29/4634 | 48/18723 | 1.63e-07 | 4.30e-06 | 29 |
GO:0048199 | Liver | Cirrhotic | vesicle targeting, to, from or within Golgi | 15/4634 | 21/18723 | 8.85e-06 | 1.30e-04 | 15 |
GO:00069013 | Liver | Cirrhotic | vesicle coating | 13/4634 | 17/18723 | 1.09e-05 | 1.56e-04 | 13 |
GO:00708611 | Liver | Cirrhotic | regulation of protein exit from endoplasmic reticulum | 17/4634 | 27/18723 | 2.89e-05 | 3.65e-04 | 17 |
GO:00198827 | Liver | Cirrhotic | antigen processing and presentation | 44/4634 | 106/18723 | 1.07e-04 | 1.10e-03 | 44 |
Pathway ID | Tissue | Disease Stage | Description | Gene Ratio | Bg Ratio | pvalue | p.adjust | qvalue | Count |
hsa04141211 | Esophagus | ESCC | Protein processing in endoplasmic reticulum | 147/4205 | 174/8465 | 3.29e-22 | 1.10e-19 | 5.64e-20 | 147 |
hsa0513428 | Esophagus | ESCC | Legionellosis | 42/4205 | 57/8465 | 1.83e-04 | 6.90e-04 | 3.53e-04 | 42 |
hsa04141310 | Esophagus | ESCC | Protein processing in endoplasmic reticulum | 147/4205 | 174/8465 | 3.29e-22 | 1.10e-19 | 5.64e-20 | 147 |
hsa0513436 | Esophagus | ESCC | Legionellosis | 42/4205 | 57/8465 | 1.83e-04 | 6.90e-04 | 3.53e-04 | 42 |
hsa0414114 | Liver | Cirrhotic | Protein processing in endoplasmic reticulum | 114/2530 | 174/8465 | 1.16e-22 | 9.67e-21 | 5.96e-21 | 114 |
hsa0513412 | Liver | Cirrhotic | Legionellosis | 28/2530 | 57/8465 | 1.71e-03 | 8.01e-03 | 4.94e-03 | 28 |
hsa0414115 | Liver | Cirrhotic | Protein processing in endoplasmic reticulum | 114/2530 | 174/8465 | 1.16e-22 | 9.67e-21 | 5.96e-21 | 114 |
hsa0513413 | Liver | Cirrhotic | Legionellosis | 28/2530 | 57/8465 | 1.71e-03 | 8.01e-03 | 4.94e-03 | 28 |
hsa0414122 | Liver | HCC | Protein processing in endoplasmic reticulum | 146/4020 | 174/8465 | 7.34e-24 | 2.46e-21 | 1.37e-21 | 146 |
hsa0414132 | Liver | HCC | Protein processing in endoplasmic reticulum | 146/4020 | 174/8465 | 7.34e-24 | 2.46e-21 | 1.37e-21 | 146 |
hsa0414130 | Oral cavity | OSCC | Protein processing in endoplasmic reticulum | 143/3704 | 174/8465 | 6.82e-26 | 2.28e-23 | 1.16e-23 | 143 |
hsa0513425 | Oral cavity | OSCC | Legionellosis | 42/3704 | 57/8465 | 4.18e-06 | 2.15e-05 | 1.10e-05 | 42 |
hsa04141113 | Oral cavity | OSCC | Protein processing in endoplasmic reticulum | 143/3704 | 174/8465 | 6.82e-26 | 2.28e-23 | 1.16e-23 | 143 |
hsa05134111 | Oral cavity | OSCC | Legionellosis | 42/3704 | 57/8465 | 4.18e-06 | 2.15e-05 | 1.10e-05 | 42 |
hsa04141210 | Oral cavity | LP | Protein processing in endoplasmic reticulum | 113/2418 | 174/8465 | 8.74e-24 | 5.82e-22 | 3.76e-22 | 113 |
hsa0513426 | Oral cavity | LP | Legionellosis | 33/2418 | 57/8465 | 3.29e-06 | 3.23e-05 | 2.08e-05 | 33 |
hsa0414138 | Oral cavity | LP | Protein processing in endoplasmic reticulum | 113/2418 | 174/8465 | 8.74e-24 | 5.82e-22 | 3.76e-22 | 113 |
hsa0513435 | Oral cavity | LP | Legionellosis | 33/2418 | 57/8465 | 3.29e-06 | 3.23e-05 | 2.08e-05 | 33 |
hsa0414128 | Prostate | BPH | Protein processing in endoplasmic reticulum | 97/1718 | 174/8465 | 2.37e-25 | 1.30e-23 | 8.07e-24 | 97 |
hsa0513420 | Prostate | BPH | Legionellosis | 22/1718 | 57/8465 | 1.10e-03 | 4.99e-03 | 3.09e-03 | 22 |
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 |
SAR1B | insertion | Frame_Shift_Ins | novel | c.486_487insC | p.Ile163HisfsTer17 | p.I163Hfs*17 | Q9Y6B6 | protein_coding | | | TCGA-BH-A0HF-01 | Breast | breast invasive carcinoma | Female | >=65 | I/II | Hormone Therapy | arimidex | SD |
SAR1B | insertion | In_Frame_Ins | novel | c.485_486insGTCTCAACGTTCAGGCTTACTCAGAGATTTGATTGC | p.Ser162delinsArgSerGlnArgSerGlyLeuLeuArgAspLeuIleAla | p.S162delinsRSQRSGLLRDLIA | Q9Y6B6 | protein_coding | | | TCGA-BH-A0HF-01 | Breast | breast invasive carcinoma | Female | >=65 | I/II | Hormone Therapy | arimidex | SD |
SAR1B | SNV | Missense_Mutation | | c.413N>A | p.Arg138Lys | p.R138K | Q9Y6B6 | protein_coding | tolerated(0.72) | benign(0) | TCGA-LP-A5U3-01 | Cervix | cervical & endocervical cancer | Female | <65 | I/II | Unknown | Unknown | SD |
SAR1B | SNV | Missense_Mutation | novel | c.301N>A | p.Asp101Asn | p.D101N | Q9Y6B6 | protein_coding | deleterious(0) | probably_damaging(0.99) | TCGA-VS-A958-01 | Cervix | cervical & endocervical cancer | Female | <65 | I/II | Chemotherapy | cisplatin | CR |
SAR1B | SNV | Missense_Mutation | novel | c.272C>A | p.Pro91His | p.P91H | Q9Y6B6 | protein_coding | deleterious(0.05) | benign(0.243) | TCGA-A5-A1OF-01 | Endometrium | uterine corpus endometrioid carcinoma | Female | <65 | I/II | Unknown | Unknown | SD |
SAR1B | SNV | Missense_Mutation | | c.316G>A | p.Glu106Lys | p.E106K | Q9Y6B6 | protein_coding | tolerated(0.07) | benign(0.013) | TCGA-AP-A0LM-01 | Endometrium | uterine corpus endometrioid carcinoma | Female | <65 | III/IV | Chemotherapy | cisplatin | SD |
SAR1B | SNV | Missense_Mutation | novel | c.523N>T | p.Val175Phe | p.V175F | Q9Y6B6 | protein_coding | deleterious(0) | possibly_damaging(0.908) | TCGA-AP-A1DV-01 | Endometrium | uterine corpus endometrioid carcinoma | Female | <65 | I/II | Unknown | Unknown | SD |
SAR1B | SNV | Missense_Mutation | rs376731426 | c.209N>T | p.Thr70Met | p.T70M | Q9Y6B6 | protein_coding | deleterious(0.04) | benign(0.302) | TCGA-AX-A06F-01 | Endometrium | uterine corpus endometrioid carcinoma | Female | <65 | III/IV | Chemotherapy | carboplatin | SD |
SAR1B | SNV | Missense_Mutation | novel | c.264N>A | p.Asn88Lys | p.N88K | Q9Y6B6 | protein_coding | deleterious(0.03) | benign(0.057) | TCGA-AX-A1CE-01 | Endometrium | uterine corpus endometrioid carcinoma | Female | <65 | I/II | Unspecific | Paclitaxel | SD |
SAR1B | SNV | Missense_Mutation | | c.226N>A | p.Leu76Met | p.L76M | Q9Y6B6 | protein_coding | deleterious(0.03) | probably_damaging(0.996) | TCGA-B5-A11G-01 | Endometrium | uterine corpus endometrioid carcinoma | Female | >=65 | I/II | Unknown | Unknown | SD |