GO ID | Tissue | Disease Stage | Description | Gene Ratio | Bg Ratio | pvalue | p.adjust | Count |
GO:0097193111 | Esophagus | ESCC | intrinsic apoptotic signaling pathway | 222/8552 | 288/18723 | 5.87e-28 | 2.02e-25 | 222 |
GO:0034976111 | Esophagus | ESCC | response to endoplasmic reticulum stress | 192/8552 | 256/18723 | 7.15e-22 | 1.30e-19 | 192 |
GO:0035966111 | Esophagus | ESCC | response to topologically incorrect protein | 125/8552 | 159/18723 | 1.44e-17 | 1.27e-15 | 125 |
GO:0006986111 | Esophagus | ESCC | response to unfolded protein | 107/8552 | 137/18723 | 7.01e-15 | 3.87e-13 | 107 |
GO:0035967111 | Esophagus | ESCC | cellular response to topologically incorrect protein | 90/8552 | 116/18723 | 1.94e-12 | 8.11e-11 | 90 |
GO:0034620111 | Esophagus | ESCC | cellular response to unfolded protein | 74/8552 | 96/18723 | 3.10e-10 | 8.66e-09 | 74 |
GO:003096818 | Esophagus | ESCC | endoplasmic reticulum unfolded protein response | 59/8552 | 74/18723 | 1.90e-09 | 4.36e-08 | 59 |
GO:0070059111 | Esophagus | ESCC | intrinsic apoptotic signaling pathway in response to endoplasmic reticulum stress | 50/8552 | 63/18723 | 4.37e-08 | 7.96e-07 | 50 |
GO:000698416 | Esophagus | ESCC | ER-nucleus signaling pathway | 38/8552 | 46/18723 | 2.70e-07 | 4.00e-06 | 38 |
GO:014046713 | Esophagus | ESCC | integrated stress response signaling | 18/8552 | 22/18723 | 5.69e-04 | 3.10e-03 | 18 |
GO:003649913 | Esophagus | ESCC | PERK-mediated unfolded protein response | 15/8552 | 18/18723 | 1.20e-03 | 5.88e-03 | 15 |
GO:00349767 | Liver | Cirrhotic | response to endoplasmic reticulum stress | 130/4634 | 256/18723 | 1.72e-19 | 3.86e-17 | 130 |
GO:00359667 | Liver | Cirrhotic | response to topologically incorrect protein | 91/4634 | 159/18723 | 2.07e-18 | 3.60e-16 | 91 |
GO:00069867 | Liver | Cirrhotic | response to unfolded protein | 79/4634 | 137/18723 | 1.99e-16 | 2.49e-14 | 79 |
GO:009719312 | Liver | Cirrhotic | intrinsic apoptotic signaling pathway | 130/4634 | 288/18723 | 2.69e-14 | 2.45e-12 | 130 |
GO:00359677 | Liver | Cirrhotic | cellular response to topologically incorrect protein | 64/4634 | 116/18723 | 2.20e-12 | 1.62e-10 | 64 |
GO:00346207 | Liver | Cirrhotic | cellular response to unfolded protein | 54/4634 | 96/18723 | 4.16e-11 | 2.42e-09 | 54 |
GO:00309686 | Liver | Cirrhotic | endoplasmic reticulum unfolded protein response | 43/4634 | 74/18723 | 9.86e-10 | 4.48e-08 | 43 |
GO:00069844 | Liver | Cirrhotic | ER-nucleus signaling pathway | 29/4634 | 46/18723 | 4.23e-08 | 1.36e-06 | 29 |
GO:0140467 | Liver | Cirrhotic | integrated stress response signaling | 15/4634 | 22/18723 | 2.14e-05 | 2.81e-04 | 15 |
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 |
QRICH1 | SNV | Missense_Mutation | | c.1813G>C | p.Glu605Gln | p.E605Q | Q2TAL8 | protein_coding | deleterious(0) | possibly_damaging(0.596) | TCGA-A2-A0EQ-01 | Breast | breast invasive carcinoma | Female | <65 | I/II | Chemotherapy | adriamycin | SD |
QRICH1 | SNV | Missense_Mutation | | c.1579G>A | p.Gly527Arg | p.G527R | Q2TAL8 | protein_coding | deleterious(0) | probably_damaging(0.988) | TCGA-A2-A0YK-01 | Breast | breast invasive carcinoma | Female | <65 | I/II | Chemotherapy | cytoxan | SD |
QRICH1 | SNV | Missense_Mutation | | c.1711N>T | p.Asp571Tyr | p.D571Y | Q2TAL8 | protein_coding | deleterious(0) | probably_damaging(0.999) | TCGA-AC-A23H-01 | Breast | breast invasive carcinoma | Female | >=65 | I/II | Unknown | Unknown | PD |
QRICH1 | insertion | In_Frame_Ins | novel | c.241_242insTGAGCCACCACGCCCAGCCTTGTTTTGTCTTTG | p.Thr81delinsMetSerHisHisAlaGlnProCysPheValPheAla | p.T81delinsMSHHAQPCFVFA | Q2TAL8 | protein_coding | | | TCGA-A7-A0CD-01 | Breast | breast invasive carcinoma | Female | >=65 | I/II | Hormone Therapy | arimidex | SD |
QRICH1 | deletion | Frame_Shift_Del | novel | c.349delN | p.Ala117LeufsTer129 | p.A117Lfs*129 | Q2TAL8 | protein_coding | | | TCGA-EW-A2FV-01 | Breast | breast invasive carcinoma | Female | <65 | III/IV | Chemotherapy | docetaxel | SD |
QRICH1 | SNV | Missense_Mutation | novel | c.846G>C | p.Leu282Phe | p.L282F | Q2TAL8 | protein_coding | deleterious(0) | probably_damaging(0.946) | TCGA-C5-A8YR-01 | Cervix | cervical & endocervical cancer | Female | <65 | I/II | Unknown | Unknown | PD |
QRICH1 | SNV | Missense_Mutation | rs376240203 | c.713N>T | p.Thr238Met | p.T238M | Q2TAL8 | protein_coding | deleterious(0.02) | benign(0.067) | TCGA-EA-A410-01 | Cervix | cervical & endocervical cancer | Female | <65 | I/II | Unknown | Unknown | SD |
QRICH1 | SNV | Missense_Mutation | novel | c.1337N>T | p.Ser446Leu | p.S446L | Q2TAL8 | protein_coding | tolerated(0.45) | benign(0.001) | TCGA-VS-A9UC-01 | Cervix | cervical & endocervical cancer | Female | <65 | I/II | Chemotherapy | cisplatin | SD |
QRICH1 | SNV | Missense_Mutation | | c.103N>T | p.Ala35Ser | p.A35S | Q2TAL8 | protein_coding | tolerated(0.29) | probably_damaging(0.968) | TCGA-AA-3673-01 | Colorectum | colon adenocarcinoma | Female | <65 | I/II | Unknown | Unknown | SD |
QRICH1 | SNV | Missense_Mutation | | c.299N>C | p.Gln100Pro | p.Q100P | Q2TAL8 | protein_coding | tolerated(0.13) | possibly_damaging(0.84) | TCGA-AA-3710-01 | Colorectum | colon adenocarcinoma | Female | >=65 | I/II | Unknown | Unknown | SD |