GO ID | Tissue | Disease Stage | Description | Gene Ratio | Bg Ratio | pvalue | p.adjust | Count |
GO:000911720 | Esophagus | HGIN | nucleotide metabolic process | 92/2587 | 489/18723 | 1.11e-03 | 1.36e-02 | 92 |
GO:00091659 | Esophagus | HGIN | nucleotide biosynthetic process | 53/2587 | 254/18723 | 1.24e-03 | 1.49e-02 | 53 |
GO:000675320 | Esophagus | HGIN | nucleoside phosphate metabolic process | 93/2587 | 497/18723 | 1.25e-03 | 1.49e-02 | 93 |
GO:19012939 | Esophagus | HGIN | nucleoside phosphate biosynthetic process | 53/2587 | 256/18723 | 1.49e-03 | 1.73e-02 | 53 |
GO:0006753110 | Esophagus | ESCC | nucleoside phosphate metabolic process | 288/8552 | 497/18723 | 1.80e-08 | 3.50e-07 | 288 |
GO:0009117111 | Esophagus | ESCC | nucleotide metabolic process | 282/8552 | 489/18723 | 4.70e-08 | 8.50e-07 | 282 |
GO:000916516 | Esophagus | ESCC | nucleotide biosynthetic process | 150/8552 | 254/18723 | 1.12e-05 | 1.06e-04 | 150 |
GO:190129316 | Esophagus | ESCC | nucleoside phosphate biosynthetic process | 151/8552 | 256/18723 | 1.15e-05 | 1.08e-04 | 151 |
GO:000911722 | Liver | HCC | nucleotide metabolic process | 300/7958 | 489/18723 | 1.61e-17 | 1.71e-15 | 300 |
GO:000675322 | Liver | HCC | nucleoside phosphate metabolic process | 304/7958 | 497/18723 | 1.78e-17 | 1.85e-15 | 304 |
GO:000916512 | Liver | HCC | nucleotide biosynthetic process | 150/7958 | 254/18723 | 6.79e-08 | 1.40e-06 | 150 |
GO:190129312 | Liver | HCC | nucleoside phosphate biosynthetic process | 151/7958 | 256/18723 | 6.84e-08 | 1.41e-06 | 151 |
GO:0072525 | Liver | HCC | pyridine-containing compound biosynthetic process | 22/7958 | 32/18723 | 2.43e-03 | 1.18e-02 | 22 |
GO:0072524 | Liver | HCC | pyridine-containing compound metabolic process | 25/7958 | 38/18723 | 3.18e-03 | 1.47e-02 | 25 |
GO:0019359 | Liver | HCC | nicotinamide nucleotide biosynthetic process | 19/7958 | 29/18723 | 1.05e-02 | 3.89e-02 | 19 |
GO:0019363 | Liver | HCC | pyridine nucleotide biosynthetic process | 19/7958 | 29/18723 | 1.05e-02 | 3.89e-02 | 19 |
GO:000675318 | Oral cavity | OSCC | nucleoside phosphate metabolic process | 247/7305 | 497/18723 | 6.28e-07 | 8.96e-06 | 247 |
GO:000911719 | Oral cavity | OSCC | nucleotide metabolic process | 243/7305 | 489/18723 | 7.80e-07 | 1.09e-05 | 243 |
GO:19012938 | Oral cavity | OSCC | nucleoside phosphate biosynthetic process | 125/7305 | 256/18723 | 8.32e-04 | 4.41e-03 | 125 |
GO:00091658 | Oral cavity | OSCC | nucleotide biosynthetic process | 124/7305 | 254/18723 | 8.79e-04 | 4.63e-03 | 124 |
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 |
NADSYN1 | SNV | Missense_Mutation | novel | c.214G>T | p.Ala72Ser | p.A72S | Q6IA69 | protein_coding | tolerated(0.24) | benign(0.009) | TCGA-A8-A082-01 | Breast | breast invasive carcinoma | Female | <65 | I/II | Chemotherapy | 5-fluorouracil | CR |
NADSYN1 | SNV | Missense_Mutation | | c.820G>C | p.Asp274His | p.D274H | Q6IA69 | protein_coding | deleterious(0.01) | probably_damaging(0.992) | TCGA-AC-A23H-01 | Breast | breast invasive carcinoma | Female | >=65 | I/II | Unknown | Unknown | PD |
NADSYN1 | SNV | Missense_Mutation | rs766142745 | c.1472T>G | p.Val491Gly | p.V491G | Q6IA69 | protein_coding | deleterious(0.01) | benign(0.25) | TCGA-AC-A23H-01 | Breast | breast invasive carcinoma | Female | >=65 | I/II | Unknown | Unknown | PD |
NADSYN1 | SNV | Missense_Mutation | novel | c.62G>A | p.Gly21Asp | p.G21D | Q6IA69 | protein_coding | deleterious(0) | probably_damaging(1) | TCGA-BH-A0GZ-01 | Breast | breast invasive carcinoma | Female | <65 | I/II | Hormone Therapy | arimidex | SD |
NADSYN1 | SNV | Missense_Mutation | rs766142745 | c.1472N>G | p.Val491Gly | p.V491G | Q6IA69 | protein_coding | deleterious(0.01) | benign(0.25) | TCGA-D8-A1X9-01 | Breast | breast invasive carcinoma | Female | >=65 | I/II | Chemotherapy | adriamycin+cyclophosphamide | SD |
NADSYN1 | SNV | Missense_Mutation | | c.1789N>A | p.Glu597Lys | p.E597K | Q6IA69 | protein_coding | deleterious(0) | probably_damaging(0.984) | TCGA-D8-A27G-01 | Breast | breast invasive carcinoma | Female | >=65 | I/II | Unknown | Unknown | SD |
NADSYN1 | SNV | Missense_Mutation | rs766142745 | c.1472T>G | p.Val491Gly | p.V491G | Q6IA69 | protein_coding | deleterious(0.01) | benign(0.25) | TCGA-E9-A227-01 | Breast | breast invasive carcinoma | Female | <65 | I/II | Chemotherapy | taxotere | CR |
NADSYN1 | SNV | Missense_Mutation | novel | c.1738N>A | p.Asp580Asn | p.D580N | Q6IA69 | protein_coding | tolerated(0.16) | benign(0.007) | TCGA-C5-A7X5-01 | Cervix | cervical & endocervical cancer | Female | >=65 | I/II | Chemotherapy | carboplatin | PD |
NADSYN1 | SNV | Missense_Mutation | novel | c.58N>C | p.Glu20Gln | p.E20Q | Q6IA69 | protein_coding | tolerated(0.12) | benign(0.174) | TCGA-C5-A902-01 | Cervix | cervical & endocervical cancer | Female | <65 | I/II | Chemotherapy | cisplatin | SD |
NADSYN1 | SNV | Missense_Mutation | | c.280N>T | p.Asn94Tyr | p.N94Y | Q6IA69 | protein_coding | deleterious(0.01) | probably_damaging(0.979) | TCGA-IR-A3LK-01 | Cervix | cervical & endocervical cancer | Female | >=65 | I/II | Chemotherapy | cisplatin | PD |