GO ID | Tissue | Disease Stage | Description | Gene Ratio | Bg Ratio | pvalue | p.adjust | Count |
GO:2001233111 | Esophagus | ESCC | regulation of apoptotic signaling pathway | 256/8552 | 356/18723 | 4.11e-24 | 1.04e-21 | 256 |
GO:0097191111 | Esophagus | ESCC | extrinsic apoptotic signaling pathway | 159/8552 | 219/18723 | 4.12e-16 | 2.94e-14 | 159 |
GO:2001234111 | Esophagus | ESCC | negative regulation of apoptotic signaling pathway | 161/8552 | 224/18723 | 1.24e-15 | 8.09e-14 | 161 |
GO:2001236111 | Esophagus | ESCC | regulation of extrinsic apoptotic signaling pathway | 111/8552 | 151/18723 | 2.97e-12 | 1.18e-10 | 111 |
GO:2001237111 | Esophagus | ESCC | negative regulation of extrinsic apoptotic signaling pathway | 69/8552 | 97/18723 | 3.23e-07 | 4.55e-06 | 69 |
GO:00380347 | Esophagus | ESCC | signal transduction in absence of ligand | 48/8552 | 65/18723 | 3.63e-06 | 3.97e-05 | 48 |
GO:00971927 | Esophagus | ESCC | extrinsic apoptotic signaling pathway in absence of ligand | 48/8552 | 65/18723 | 3.63e-06 | 3.97e-05 | 48 |
GO:20012394 | Esophagus | ESCC | regulation of extrinsic apoptotic signaling pathway in absence of ligand | 30/8552 | 43/18723 | 1.21e-03 | 5.88e-03 | 30 |
GO:19010992 | Esophagus | ESCC | negative regulation of signal transduction in absence of ligand | 23/8552 | 33/18723 | 4.57e-03 | 1.78e-02 | 23 |
GO:20012402 | Esophagus | ESCC | negative regulation of extrinsic apoptotic signaling pathway in absence of ligand | 23/8552 | 33/18723 | 4.57e-03 | 1.78e-02 | 23 |
GO:200123322 | Liver | HCC | regulation of apoptotic signaling pathway | 226/7958 | 356/18723 | 7.26e-16 | 5.68e-14 | 226 |
GO:009719122 | Liver | HCC | extrinsic apoptotic signaling pathway | 143/7958 | 219/18723 | 6.99e-12 | 2.97e-10 | 143 |
GO:200123412 | Liver | HCC | negative regulation of apoptotic signaling pathway | 145/7958 | 224/18723 | 1.33e-11 | 5.36e-10 | 145 |
GO:200123621 | Liver | HCC | regulation of extrinsic apoptotic signaling pathway | 98/7958 | 151/18723 | 2.17e-08 | 5.08e-07 | 98 |
GO:200123712 | Liver | HCC | negative regulation of extrinsic apoptotic signaling pathway | 62/7958 | 97/18723 | 1.67e-05 | 1.81e-04 | 62 |
GO:200123320 | Oral cavity | OSCC | regulation of apoptotic signaling pathway | 242/7305 | 356/18723 | 6.66e-29 | 3.24e-26 | 242 |
GO:200123420 | Oral cavity | OSCC | negative regulation of apoptotic signaling pathway | 148/7305 | 224/18723 | 1.71e-16 | 1.36e-14 | 148 |
GO:009719120 | Oral cavity | OSCC | extrinsic apoptotic signaling pathway | 142/7305 | 219/18723 | 7.34e-15 | 4.55e-13 | 142 |
GO:200123620 | Oral cavity | OSCC | regulation of extrinsic apoptotic signaling pathway | 100/7305 | 151/18723 | 1.07e-11 | 3.90e-10 | 100 |
GO:00380346 | Oral cavity | OSCC | signal transduction in absence of ligand | 44/7305 | 65/18723 | 2.63e-06 | 3.26e-05 | 44 |
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 |
ZC3HC1 | SNV | Missense_Mutation | | c.242N>A | p.Arg81Lys | p.R81K | Q86WB0 | protein_coding | deleterious(0) | probably_damaging(0.998) | TCGA-AC-A3BB-01 | Breast | breast invasive carcinoma | Female | <65 | III/IV | Chemotherapy | cytoxan | CR |
ZC3HC1 | SNV | Missense_Mutation | | c.634N>C | p.Asp212His | p.D212H | Q86WB0 | protein_coding | deleterious(0) | probably_damaging(0.923) | TCGA-C8-A26Y-01 | Breast | breast invasive carcinoma | Female | >=65 | I/II | Unknown | Unknown | SD |
ZC3HC1 | SNV | Missense_Mutation | | c.941N>T | p.Arg314Leu | p.R314L | Q86WB0 | protein_coding | deleterious(0.01) | possibly_damaging(0.458) | TCGA-D8-A27N-01 | Breast | breast invasive carcinoma | Female | <65 | III/IV | Chemotherapy | taxol+adriamycin+cyclophosphamide+herceptin | SD |
ZC3HC1 | insertion | In_Frame_Ins | novel | c.866_867insATTATCTCCCCTTTCCTTCAGGCTGAAAAGAGCCCTGGT | p.Ser289_Ser290insLeuSerProLeuSerPheArgLeuLysArgAlaLeuVal | p.S289_S290insLSPLSFRLKRALV | Q86WB0 | protein_coding | | | TCGA-A8-A09Q-01 | Breast | breast invasive carcinoma | Female | >=65 | III/IV | Hormone Therapy | anastrozole | SD |
ZC3HC1 | SNV | Missense_Mutation | | c.242N>C | p.Arg81Thr | p.R81T | Q86WB0 | protein_coding | deleterious(0) | probably_damaging(0.999) | TCGA-JW-A5VL-01 | Cervix | cervical & endocervical cancer | Female | <65 | I/II | Unknown | Unknown | SD |
ZC3HC1 | SNV | Missense_Mutation | novel | c.293N>G | p.Ser98Cys | p.S98C | Q86WB0 | protein_coding | deleterious(0.04) | possibly_damaging(0.729) | TCGA-VS-A8EI-01 | Cervix | cervical & endocervical cancer | Female | <65 | I/II | Chemotherapy | cisplatin | CR |
ZC3HC1 | SNV | Missense_Mutation | novel | c.1181N>G | p.Ser394Cys | p.S394C | Q86WB0 | protein_coding | deleterious(0) | probably_damaging(0.957) | TCGA-VS-A94X-01 | Cervix | cervical & endocervical cancer | Female | <65 | I/II | Chemotherapy | cisplatin | PD |
ZC3HC1 | SNV | Missense_Mutation | | c.227N>T | p.Glu76Val | p.E76V | Q86WB0 | protein_coding | deleterious(0) | probably_damaging(0.988) | TCGA-AA-3860-01 | Colorectum | colon adenocarcinoma | Female | <65 | III/IV | Chemotherapy | folinic | CR |
ZC3HC1 | SNV | Missense_Mutation | novel | c.934C>T | p.Pro312Ser | p.P312S | Q86WB0 | protein_coding | tolerated(0.28) | benign(0.003) | TCGA-AA-3947-01 | Colorectum | colon adenocarcinoma | Female | <65 | I/II | Unknown | Unknown | SD |
ZC3HC1 | SNV | Missense_Mutation | | c.1082N>C | p.Val361Ala | p.V361A | Q86WB0 | protein_coding | tolerated(0.19) | benign(0.009) | TCGA-AA-A010-01 | Colorectum | colon adenocarcinoma | Female | <65 | I/II | Chemotherapy | folinic | CR |