GO ID | Tissue | Disease Stage | Description | Gene Ratio | Bg Ratio | pvalue | p.adjust | Count |
GO:005105214 | Esophagus | HGIN | regulation of DNA metabolic process | 79/2587 | 359/18723 | 1.38e-05 | 3.85e-04 | 79 |
GO:007189710 | Esophagus | HGIN | DNA biosynthetic process | 44/2587 | 180/18723 | 8.97e-05 | 1.96e-03 | 44 |
GO:005105416 | Esophagus | HGIN | positive regulation of DNA metabolic process | 47/2587 | 201/18723 | 1.65e-04 | 3.21e-03 | 47 |
GO:00323926 | Esophagus | HGIN | DNA geometric change | 25/2587 | 90/18723 | 3.77e-04 | 5.85e-03 | 25 |
GO:200027819 | Esophagus | HGIN | regulation of DNA biosynthetic process | 28/2587 | 106/18723 | 4.30e-04 | 6.47e-03 | 28 |
GO:00325084 | Esophagus | HGIN | DNA duplex unwinding | 22/2587 | 84/18723 | 1.91e-03 | 2.03e-02 | 22 |
GO:200057318 | Esophagus | HGIN | positive regulation of DNA biosynthetic process | 18/2587 | 66/18723 | 2.95e-03 | 2.86e-02 | 18 |
GO:00062604 | Esophagus | ESCC | DNA replication | 181/8552 | 260/18723 | 3.55e-15 | 2.05e-13 | 181 |
GO:005105215 | Esophagus | ESCC | regulation of DNA metabolic process | 232/8552 | 359/18723 | 2.40e-13 | 1.13e-11 | 232 |
GO:007189716 | Esophagus | ESCC | DNA biosynthetic process | 127/8552 | 180/18723 | 1.04e-11 | 3.85e-10 | 127 |
GO:005105417 | Esophagus | ESCC | positive regulation of DNA metabolic process | 139/8552 | 201/18723 | 1.20e-11 | 4.33e-10 | 139 |
GO:200057319 | Esophagus | ESCC | positive regulation of DNA biosynthetic process | 56/8552 | 66/18723 | 4.51e-11 | 1.45e-09 | 56 |
GO:2000278110 | Esophagus | ESCC | regulation of DNA biosynthetic process | 81/8552 | 106/18723 | 9.81e-11 | 2.96e-09 | 81 |
GO:00062612 | Esophagus | ESCC | DNA-dependent DNA replication | 100/8552 | 151/18723 | 2.61e-07 | 3.94e-06 | 100 |
GO:00062754 | Esophagus | ESCC | regulation of DNA replication | 73/8552 | 107/18723 | 1.97e-06 | 2.28e-05 | 73 |
GO:003239214 | Esophagus | ESCC | DNA geometric change | 62/8552 | 90/18723 | 7.02e-06 | 7.04e-05 | 62 |
GO:003250813 | Esophagus | ESCC | DNA duplex unwinding | 58/8552 | 84/18723 | 1.23e-05 | 1.14e-04 | 58 |
GO:0090329 | Esophagus | ESCC | regulation of DNA-dependent DNA replication | 30/8552 | 46/18723 | 5.91e-03 | 2.18e-02 | 30 |
GO:00062603 | Oral cavity | OSCC | DNA replication | 159/7305 | 260/18723 | 3.25e-13 | 1.59e-11 | 159 |
GO:005105210 | Oral cavity | OSCC | regulation of DNA metabolic process | 207/7305 | 359/18723 | 4.45e-13 | 2.17e-11 | 207 |
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 |
CHTF18 | SNV | Missense_Mutation | rs763378704 | c.34N>A | p.Glu12Lys | p.E12K | Q8WVB6 | protein_coding | deleterious(0.03) | probably_damaging(0.995) | TCGA-5L-AAT1-01 | Breast | breast invasive carcinoma | Female | <65 | III/IV | Hormone Therapy | letrozol | SD |
CHTF18 | SNV | Missense_Mutation | novel | c.826N>T | p.Ala276Ser | p.A276S | Q8WVB6 | protein_coding | tolerated(0.95) | benign(0.003) | TCGA-A2-A1FV-01 | Breast | breast invasive carcinoma | Female | >=65 | I/II | Chemotherapy | cyclophosphamide | SD |
CHTF18 | SNV | Missense_Mutation | novel | c.2374C>A | p.Leu792Met | p.L792M | Q8WVB6 | protein_coding | deleterious(0) | probably_damaging(0.996) | TCGA-BH-AB28-01 | Breast | breast invasive carcinoma | Female | <65 | III/IV | Chemotherapy | taxotere | SD |
CHTF18 | SNV | Missense_Mutation | | c.1909N>A | p.His637Asn | p.H637N | Q8WVB6 | protein_coding | deleterious(0.04) | benign(0.045) | TCGA-D8-A1J9-01 | Breast | breast invasive carcinoma | Female | <65 | I/II | Unknown | Unknown | SD |
CHTF18 | SNV | Missense_Mutation | | c.2202G>C | p.Arg734Ser | p.R734S | Q8WVB6 | protein_coding | tolerated(0.06) | benign(0.013) | TCGA-E9-A228-01 | Breast | breast invasive carcinoma | Female | <65 | I/II | Chemotherapy | doxorubicin | SD |
CHTF18 | SNV | Missense_Mutation | novel | c.2218N>A | p.Leu740Met | p.L740M | Q8WVB6 | protein_coding | tolerated(0.96) | benign(0.135) | TCGA-JL-A3YW-01 | Breast | breast invasive carcinoma | Female | <65 | I/II | Unknown | Unknown | SD |
CHTF18 | SNV | Missense_Mutation | rs199742669 | c.992C>T | p.Pro331Leu | p.P331L | Q8WVB6 | protein_coding | tolerated(0.18) | benign(0.003) | TCGA-2W-A8YY-01 | Cervix | cervical & endocervical cancer | Female | <65 | I/II | Chemotherapy | cisplatin | CR |
CHTF18 | SNV | Missense_Mutation | rs760334422 | c.1618G>A | p.Ala540Thr | p.A540T | Q8WVB6 | protein_coding | deleterious(0.04) | possibly_damaging(0.488) | TCGA-2W-A8YY-01 | Cervix | cervical & endocervical cancer | Female | <65 | I/II | Chemotherapy | cisplatin | CR |
CHTF18 | SNV | Missense_Mutation | | c.443N>T | p.Ser148Leu | p.S148L | Q8WVB6 | protein_coding | tolerated(0.89) | benign(0) | TCGA-DG-A2KK-01 | Cervix | cervical & endocervical cancer | Female | <65 | III/IV | Chemotherapy | cisplatin | SD |
CHTF18 | SNV | Missense_Mutation | novel | c.1952G>A | p.Gly651Asp | p.G651D | Q8WVB6 | protein_coding | deleterious(0) | probably_damaging(0.998) | TCGA-VS-A94Z-01 | Cervix | cervical & endocervical cancer | Female | <65 | I/II | Chemotherapy | cisplatin | CR |