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 |
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 |
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:000689017 | Esophagus | ESCC | retrograde vesicle-mediated transport, Golgi to endoplasmic reticulum | 46/8552 | 52/18723 | 1.23e-10 | 3.66e-09 | 46 |
GO:00481936 | Liver | NAFLD | Golgi vesicle transport | 66/1882 | 296/18723 | 3.66e-10 | 9.30e-08 | 66 |
GO:00068885 | Liver | NAFLD | endoplasmic reticulum to Golgi vesicle-mediated transport | 26/1882 | 130/18723 | 4.78e-04 | 6.78e-03 | 26 |
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:00068905 | Liver | Cirrhotic | retrograde vesicle-mediated transport, Golgi to endoplasmic reticulum | 29/4634 | 52/18723 | 1.69e-06 | 3.22e-05 | 29 |
GO:004819321 | Liver | HCC | Golgi vesicle transport | 217/7958 | 296/18723 | 2.58e-27 | 1.02e-24 | 217 |
GO:000688821 | Liver | HCC | endoplasmic reticulum to Golgi vesicle-mediated transport | 100/7958 | 130/18723 | 1.15e-15 | 8.67e-14 | 100 |
GO:000689011 | Liver | HCC | retrograde vesicle-mediated transport, Golgi to endoplasmic reticulum | 36/7958 | 52/18723 | 8.79e-05 | 7.66e-04 | 36 |
GO:004819315 | Oral cavity | OSCC | Golgi vesicle transport | 209/7305 | 296/18723 | 1.39e-28 | 6.30e-26 | 209 |
GO:00068888 | Oral cavity | OSCC | endoplasmic reticulum to Golgi vesicle-mediated transport | 97/7305 | 130/18723 | 1.42e-16 | 1.15e-14 | 97 |
GO:000689010 | Oral cavity | OSCC | retrograde vesicle-mediated transport, Golgi to endoplasmic reticulum | 40/7305 | 52/18723 | 2.86e-08 | 5.50e-07 | 40 |
GO:004819316 | Oral cavity | LP | Golgi vesicle transport | 141/4623 | 296/18723 | 6.11e-18 | 1.06e-15 | 141 |
GO:000688814 | Oral cavity | LP | endoplasmic reticulum to Golgi vesicle-mediated transport | 67/4623 | 130/18723 | 3.74e-11 | 2.39e-09 | 67 |
GO:000689015 | Oral cavity | LP | retrograde vesicle-mediated transport, Golgi to endoplasmic reticulum | 29/4623 | 52/18723 | 1.60e-06 | 3.79e-05 | 29 |
GO:004819310 | Prostate | BPH | Golgi vesicle transport | 102/3107 | 296/18723 | 3.90e-14 | 4.56e-12 | 102 |
GO:00068887 | Prostate | BPH | endoplasmic reticulum to Golgi vesicle-mediated transport | 46/3107 | 130/18723 | 1.53e-07 | 3.53e-06 | 46 |
GO:00068909 | Prostate | BPH | retrograde vesicle-mediated transport, Golgi to endoplasmic reticulum | 21/3107 | 52/18723 | 3.85e-05 | 4.18e-04 | 21 |
GO:004819314 | Prostate | Tumor | Golgi vesicle transport | 105/3246 | 296/18723 | 3.55e-14 | 4.33e-12 | 105 |
GO:000688813 | Prostate | Tumor | endoplasmic reticulum to Golgi vesicle-mediated transport | 49/3246 | 130/18723 | 2.49e-08 | 8.33e-07 | 49 |
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 |
ERGIC1 | SNV | Missense_Mutation | novel | c.854A>T | p.Gln285Leu | p.Q285L | Q969X5 | protein_coding | deleterious(0.03) | benign(0.138) | TCGA-BH-A0B1-01 | Breast | breast invasive carcinoma | Female | >=65 | I/II | Chemotherapy | adriamycin | SD |
ERGIC1 | SNV | Missense_Mutation | novel | c.605N>T | p.Lys202Met | p.K202M | Q969X5 | protein_coding | deleterious(0.03) | possibly_damaging(0.575) | TCGA-BH-A0EE-01 | Breast | breast invasive carcinoma | Female | >=65 | I/II | Chemotherapy | docetaxel | SD |
ERGIC1 | insertion | Frame_Shift_Ins | novel | c.649_650insAGGGAGGGAGGGGC | p.Val217GlufsTer125 | p.V217Efs*125 | Q969X5 | protein_coding | | | TCGA-A2-A0EU-01 | Breast | breast invasive carcinoma | Female | >=65 | I/II | Unknown | Unknown | SD |
ERGIC1 | insertion | Frame_Shift_Ins | novel | c.855_856insGGGCTGCTAATGTCCTCTGGGGCCACACAACTGTTTATTTCTT | p.Leu286GlyfsTer26 | p.L286Gfs*26 | Q969X5 | protein_coding | | | TCGA-BH-A0B1-01 | Breast | breast invasive carcinoma | Female | >=65 | I/II | Chemotherapy | adriamycin | SD |
ERGIC1 | insertion | Frame_Shift_Ins | novel | c.604_605insCT | p.Lys202ThrfsTer136 | p.K202Tfs*136 | Q969X5 | protein_coding | | | TCGA-BH-A0EE-01 | Breast | breast invasive carcinoma | Female | >=65 | I/II | Chemotherapy | docetaxel | SD |
ERGIC1 | insertion | Frame_Shift_Ins | novel | c.839_840insTCTGTCCTTTGTAGCACTTGCCTTGG | p.Trp281LeufsTer65 | p.W281Lfs*65 | Q969X5 | protein_coding | | | TCGA-BH-A0HB-01 | Breast | breast invasive carcinoma | Female | <65 | I/II | Chemotherapy | docetaxel | SD |
ERGIC1 | SNV | Missense_Mutation | | c.577N>T | p.Pro193Ser | p.P193S | Q969X5 | protein_coding | deleterious(0.01) | probably_damaging(1) | TCGA-FU-A3HZ-01 | Cervix | cervical & endocervical cancer | Female | <65 | I/II | Chemotherapy | cisplatin | CR |
ERGIC1 | SNV | Missense_Mutation | novel | c.320N>C | p.Ile107Thr | p.I107T | Q969X5 | protein_coding | tolerated(0.42) | benign(0.005) | TCGA-EI-6507-01 | Colorectum | rectum adenocarcinoma | Male | <65 | I/II | Unknown | Unknown | SD |
ERGIC1 | SNV | Missense_Mutation | novel | c.433N>T | p.Asp145Tyr | p.D145Y | Q969X5 | protein_coding | deleterious(0) | probably_damaging(0.995) | TCGA-A5-A0G2-01 | Endometrium | uterine corpus endometrioid carcinoma | Female | <65 | III/IV | Unknown | Unknown | SD |
ERGIC1 | SNV | Missense_Mutation | rs376307473 | c.695N>A | p.Arg232His | p.R232H | Q969X5 | protein_coding | deleterious(0.05) | probably_damaging(0.988) | TCGA-AJ-A3NE-01 | Endometrium | uterine corpus endometrioid carcinoma | Female | <65 | I/II | Unknown | Unknown | SD |