Tissue | Expression Dynamics | Abbreviation |
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 |
Skin | | AK: Actinic keratosis |
cSCC: Cutaneous squamous cell carcinoma |
SCCIS:squamous cell carcinoma in situ |
GO ID | Tissue | Disease Stage | Description | Gene Ratio | Bg Ratio | pvalue | p.adjust | Count |
GO:004819318 | Esophagus | ESCC | Golgi vesicle transport | 231/8552 | 296/18723 | 1.82e-30 | 9.63e-28 | 231 |
GO:003238618 | Esophagus | ESCC | regulation of intracellular transport | 243/8552 | 337/18723 | 3.20e-23 | 7.25e-21 | 243 |
GO:001605014 | Esophagus | ESCC | vesicle organization | 211/8552 | 300/18723 | 2.85e-18 | 2.87e-16 | 211 |
GO:0033157110 | Esophagus | ESCC | regulation of intracellular protein transport | 169/8552 | 229/18723 | 3.31e-18 | 3.23e-16 | 169 |
GO:000688815 | Esophagus | ESCC | endoplasmic reticulum to Golgi vesicle-mediated transport | 102/8552 | 130/18723 | 1.73e-14 | 9.22e-13 | 102 |
GO:0006900111 | Esophagus | ESCC | vesicle budding from membrane | 54/8552 | 61/18723 | 2.66e-12 | 1.07e-10 | 54 |
GO:0045185111 | Esophagus | ESCC | maintenance of protein location | 71/8552 | 94/18723 | 3.41e-09 | 7.24e-08 | 71 |
GO:0051235110 | Esophagus | ESCC | maintenance of location | 200/8552 | 327/18723 | 1.01e-08 | 2.02e-07 | 200 |
GO:0032507110 | Esophagus | ESCC | maintenance of protein location in cell | 52/8552 | 65/18723 | 1.41e-08 | 2.77e-07 | 52 |
GO:009011414 | Esophagus | ESCC | COPII-coated vesicle budding | 27/8552 | 29/18723 | 8.09e-08 | 1.39e-06 | 27 |
GO:007259517 | Esophagus | ESCC | maintenance of protein localization in organelle | 36/8552 | 42/18723 | 8.46e-08 | 1.44e-06 | 36 |
GO:000698416 | Esophagus | ESCC | ER-nucleus signaling pathway | 38/8552 | 46/18723 | 2.70e-07 | 4.00e-06 | 38 |
GO:190165319 | Esophagus | ESCC | cellular response to peptide | 208/8552 | 359/18723 | 1.68e-06 | 2.01e-05 | 208 |
GO:0043434111 | Esophagus | ESCC | response to peptide hormone | 234/8552 | 414/18723 | 4.93e-06 | 5.21e-05 | 234 |
GO:003286918 | Esophagus | ESCC | cellular response to insulin stimulus | 124/8552 | 203/18723 | 6.63e-06 | 6.75e-05 | 124 |
GO:003286818 | Esophagus | ESCC | response to insulin | 156/8552 | 264/18723 | 7.21e-06 | 7.20e-05 | 156 |
GO:00060668 | Esophagus | ESCC | alcohol metabolic process | 202/8552 | 353/18723 | 7.32e-06 | 7.26e-05 | 202 |
GO:003252714 | Esophagus | ESCC | protein exit from endoplasmic reticulum | 37/8552 | 48/18723 | 8.99e-06 | 8.65e-05 | 37 |
GO:007097218 | Esophagus | ESCC | protein localization to endoplasmic reticulum | 52/8552 | 74/18723 | 1.58e-05 | 1.42e-04 | 52 |
GO:00161263 | Esophagus | ESCC | sterol biosynthetic process | 46/8552 | 64/18723 | 1.91e-05 | 1.67e-04 | 46 |
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 |
INSIG1 | SNV | Missense_Mutation | novel | c.698N>A | p.Val233Asp | p.V233D | O15503 | protein_coding | deleterious(0) | probably_damaging(0.969) | TCGA-BH-A18G-01 | Breast | breast invasive carcinoma | Female | >=65 | I/II | Unknown | Unknown | SD |
INSIG1 | deletion | In_Frame_Del | | c.776_778delTGG | p.Val259del | p.V259del | O15503 | protein_coding | | | TCGA-A8-A07W-01 | Breast | breast invasive carcinoma | Female | >=65 | III/IV | Hormone Therapy | exemestane | SD |
INSIG1 | SNV | Missense_Mutation | | c.108G>C | p.Glu36Asp | p.E36D | O15503 | protein_coding | tolerated_low_confidence(0.18) | benign(0) | TCGA-Q1-A73O-01 | Cervix | cervical & endocervical cancer | Female | <65 | I/II | Chemotherapy | cisplatin | CR |
INSIG1 | SNV | Missense_Mutation | novel | c.349N>A | p.Glu117Lys | p.E117K | O15503 | protein_coding | tolerated(0.1) | probably_damaging(0.996) | TCGA-VS-A9V0-01 | Cervix | cervical & endocervical cancer | Female | <65 | I/II | Chemotherapy | cisplatin | PD |
INSIG1 | SNV | Missense_Mutation | rs780785188 | c.769N>A | p.Val257Ile | p.V257I | O15503 | protein_coding | tolerated(0.38) | probably_damaging(0.995) | TCGA-AZ-4313-01 | Colorectum | colon adenocarcinoma | Female | <65 | I/II | Unknown | Unknown | SD |
INSIG1 | deletion | In_Frame_Del | novel | c.276_278delNNN | p.Phe92_Ser93delinsLeu | p.F92_S93delinsL | O15503 | protein_coding | | | TCGA-AA-3845-01 | Colorectum | colon adenocarcinoma | Female | >=65 | I/II | Unknown | Unknown | PD |
INSIG1 | SNV | Missense_Mutation | novel | c.737N>A | p.Ser246Tyr | p.S246Y | O15503 | protein_coding | deleterious(0) | probably_damaging(0.999) | TCGA-AJ-A5DW-01 | Endometrium | uterine corpus endometrioid carcinoma | Female | <65 | I/II | Unknown | Unknown | SD |
INSIG1 | SNV | Missense_Mutation | novel | c.757T>G | p.Phe253Val | p.F253V | O15503 | protein_coding | deleterious(0) | probably_damaging(0.998) | TCGA-AX-A2HC-01 | Endometrium | uterine corpus endometrioid carcinoma | Female | <65 | III/IV | Chemotherapy | paclitaxel | PD |
INSIG1 | SNV | Missense_Mutation | novel | c.409N>A | p.Ala137Thr | p.A137T | O15503 | protein_coding | deleterious(0.01) | probably_damaging(0.999) | TCGA-EO-A22R-01 | Endometrium | uterine corpus endometrioid carcinoma | Female | <65 | I/II | Unknown | Unknown | SD |
INSIG1 | SNV | Missense_Mutation | novel | c.293N>G | p.Leu98Arg | p.L98R | O15503 | protein_coding | deleterious(0) | probably_damaging(0.955) | TCGA-EY-A1GI-01 | Endometrium | uterine corpus endometrioid carcinoma | Female | <65 | I/II | Unknown | Unknown | SD |