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 |
Lung | | AAH: Atypical adenomatous hyperplasia |
AIS: Adenocarcinoma in situ |
IAC: Invasive lung adenocarcinoma |
MIA: Minimally invasive adenocarcinoma |
GO ID | Tissue | Disease Stage | Description | Gene Ratio | Bg Ratio | pvalue | p.adjust | Count |
GO:000247821 | Lung | AAH | antigen processing and presentation of exogenous peptide antigen | 6/613 | 38/18723 | 1.36e-03 | 3.62e-02 | 6 |
GO:00024748 | Lung | AAH | antigen processing and presentation of peptide antigen via MHC class I | 5/613 | 28/18723 | 1.95e-03 | 4.39e-02 | 5 |
GO:00480026 | Stomach | GC | antigen processing and presentation of peptide antigen | 21/1159 | 62/18723 | 5.66e-11 | 1.10e-08 | 21 |
GO:00024786 | Stomach | GC | antigen processing and presentation of exogenous peptide antigen | 15/1159 | 38/18723 | 2.75e-09 | 3.48e-07 | 15 |
GO:00198826 | Stomach | GC | antigen processing and presentation | 25/1159 | 106/18723 | 4.82e-09 | 5.72e-07 | 25 |
GO:0002495 | Stomach | GC | antigen processing and presentation of peptide antigen via MHC class II | 14/1159 | 34/18723 | 4.85e-09 | 5.72e-07 | 14 |
GO:0019886 | Stomach | GC | antigen processing and presentation of exogenous peptide antigen via MHC class II | 13/1159 | 30/18723 | 8.16e-09 | 8.22e-07 | 13 |
GO:00198846 | Stomach | GC | antigen processing and presentation of exogenous antigen | 16/1159 | 47/18723 | 1.02e-08 | 9.69e-07 | 16 |
GO:0002504 | Stomach | GC | antigen processing and presentation of peptide or polysaccharide antigen via MHC class II | 14/1159 | 36/18723 | 1.18e-08 | 1.07e-06 | 14 |
GO:00316476 | Stomach | GC | regulation of protein stability | 40/1159 | 298/18723 | 3.23e-06 | 1.31e-04 | 40 |
GO:00508216 | Stomach | GC | protein stabilization | 29/1159 | 191/18723 | 6.65e-06 | 2.54e-04 | 29 |
GO:00024746 | Stomach | GC | antigen processing and presentation of peptide antigen via MHC class I | 9/1159 | 28/18723 | 3.05e-05 | 8.43e-04 | 9 |
GO:004800211 | Stomach | CAG with IM | antigen processing and presentation of peptide antigen | 21/1050 | 62/18723 | 8.88e-12 | 2.49e-09 | 21 |
GO:00024781 | Stomach | CAG with IM | antigen processing and presentation of exogenous peptide antigen | 15/1050 | 38/18723 | 7.07e-10 | 1.02e-07 | 15 |
GO:00024951 | Stomach | CAG with IM | antigen processing and presentation of peptide antigen via MHC class II | 14/1050 | 34/18723 | 1.35e-09 | 1.72e-07 | 14 |
GO:00198861 | Stomach | CAG with IM | antigen processing and presentation of exogenous peptide antigen via MHC class II | 13/1050 | 30/18723 | 2.47e-09 | 2.87e-07 | 13 |
GO:00198841 | Stomach | CAG with IM | antigen processing and presentation of exogenous antigen | 16/1050 | 47/18723 | 2.47e-09 | 2.87e-07 | 16 |
GO:00025041 | Stomach | CAG with IM | antigen processing and presentation of peptide or polysaccharide antigen via MHC class II | 14/1050 | 36/18723 | 3.32e-09 | 3.53e-07 | 14 |
GO:001988211 | Stomach | CAG with IM | antigen processing and presentation | 24/1050 | 106/18723 | 3.38e-09 | 3.53e-07 | 24 |
GO:003164711 | Stomach | CAG with IM | regulation of protein stability | 38/1050 | 298/18723 | 1.92e-06 | 8.60e-05 | 38 |
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 |
IFI30 | SNV | Missense_Mutation | rs773697080 | c.453N>C | p.Glu151Asp | p.E151D | P13284 | protein_coding | tolerated(0.15) | possibly_damaging(0.891) | TCGA-AR-A256-01 | Breast | breast invasive carcinoma | Female | <65 | I/II | Chemotherapy | doxorubicin | PD |
IFI30 | SNV | Missense_Mutation | novel | c.530N>C | p.Glu177Ala | p.E177A | P13284 | protein_coding | tolerated(0.73) | benign(0.005) | TCGA-OL-A66L-01 | Breast | breast invasive carcinoma | Female | >=65 | I/II | Unknown | Unknown | SD |
IFI30 | insertion | Frame_Shift_Ins | novel | c.451_452insGAGAAACCCTGTCTCTACTAAAAATACAAAAATT | p.Glu151GlyfsTer14 | p.E151Gfs*14 | P13284 | protein_coding | | | TCGA-A8-A07P-01 | Breast | breast invasive carcinoma | Female | >=65 | I/II | Chemotherapy | 5-fluorouracil | SD |
IFI30 | insertion | In_Frame_Ins | novel | c.672_673insCCTATAATCCCAGCTACTCAGGAGGCTGAG | p.Leu224_Val225insProIleIleProAlaThrGlnGluAlaGlu | p.L224_V225insPIIPATQEAE | P13284 | protein_coding | | | TCGA-AN-A03X-01 | Breast | breast invasive carcinoma | Female | >=65 | I/II | Unknown | Unknown | SD |
IFI30 | SNV | Missense_Mutation | novel | c.68N>T | p.Ala23Val | p.A23V | P13284 | protein_coding | deleterious_low_confidence(0.03) | benign(0.003) | TCGA-2W-A8YY-01 | Cervix | cervical & endocervical cancer | Female | <65 | I/II | Chemotherapy | cisplatin | CR |
IFI30 | SNV | Missense_Mutation | | c.721N>G | p.Thr241Ala | p.T241A | P13284 | protein_coding | tolerated(1) | benign(0.001) | TCGA-UC-A7PF-01 | Cervix | cervical & endocervical cancer | Female | <65 | I/II | Unknown | Unknown | SD |
IFI30 | SNV | Missense_Mutation | rs764192398 | c.581G>A | p.Arg194Gln | p.R194Q | P13284 | protein_coding | tolerated(0.28) | benign(0.147) | TCGA-AA-3864-01 | Colorectum | colon adenocarcinoma | Male | >=65 | I/II | Unknown | Unknown | SD |
IFI30 | SNV | Missense_Mutation | rs533404165 | c.628N>A | p.Val210Ile | p.V210I | P13284 | protein_coding | tolerated(0.59) | benign(0.003) | TCGA-AZ-4313-01 | Colorectum | colon adenocarcinoma | Female | <65 | I/II | Unknown | Unknown | SD |
IFI30 | SNV | Missense_Mutation | novel | c.671N>G | p.Leu224Arg | p.L224R | P13284 | protein_coding | deleterious(0) | possibly_damaging(0.497) | TCGA-AZ-4315-01 | Colorectum | colon adenocarcinoma | Male | <65 | I/II | Unknown | Unknown | SD |
IFI30 | SNV | Missense_Mutation | novel | c.102C>A | p.Phe34Leu | p.F34L | P13284 | protein_coding | tolerated_low_confidence(0.77) | benign(0) | TCGA-CA-6717-01 | Colorectum | colon adenocarcinoma | Male | <65 | I/II | Chemotherapy | oxaliplatin | CR |