GO ID | Tissue | Disease Stage | Description | Gene Ratio | Bg Ratio | pvalue | p.adjust | Count |
GO:0006753110 | Esophagus | ESCC | nucleoside phosphate metabolic process | 288/8552 | 497/18723 | 1.80e-08 | 3.50e-07 | 288 |
GO:0019693111 | Esophagus | ESCC | ribose phosphate metabolic process | 234/8552 | 396/18723 | 4.24e-08 | 7.76e-07 | 234 |
GO:0009117111 | Esophagus | ESCC | nucleotide metabolic process | 282/8552 | 489/18723 | 4.70e-08 | 8.50e-07 | 282 |
GO:0072521111 | Esophagus | ESCC | purine-containing compound metabolic process | 238/8552 | 416/18723 | 1.20e-06 | 1.49e-05 | 238 |
GO:0046390110 | Esophagus | ESCC | ribose phosphate biosynthetic process | 119/8552 | 190/18723 | 1.73e-06 | 2.06e-05 | 119 |
GO:0006163111 | Esophagus | ESCC | purine nucleotide metabolic process | 226/8552 | 396/18723 | 2.81e-06 | 3.21e-05 | 226 |
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:007252217 | Esophagus | ESCC | purine-containing compound biosynthetic process | 120/8552 | 200/18723 | 3.02e-05 | 2.51e-04 | 120 |
GO:000616417 | Esophagus | ESCC | purine nucleotide biosynthetic process | 113/8552 | 191/18723 | 1.16e-04 | 8.04e-04 | 113 |
GO:19016574 | Esophagus | ESCC | glycosyl compound metabolic process | 57/8552 | 88/18723 | 2.32e-04 | 1.44e-03 | 57 |
GO:00091163 | Esophagus | ESCC | nucleoside metabolic process | 39/8552 | 62/18723 | 4.68e-03 | 1.82e-02 | 39 |
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:001969319 | Oral cavity | OSCC | ribose phosphate metabolic process | 199/7305 | 396/18723 | 2.97e-06 | 3.64e-05 | 199 |
GO:19016573 | Oral cavity | OSCC | glycosyl compound metabolic process | 52/7305 | 88/18723 | 1.06e-04 | 7.84e-04 | 52 |
GO:007252120 | Oral cavity | OSCC | purine-containing compound metabolic process | 199/7305 | 416/18723 | 1.34e-04 | 9.53e-04 | 199 |
GO:000616320 | Oral cavity | OSCC | purine nucleotide metabolic process | 188/7305 | 396/18723 | 3.31e-04 | 2.04e-03 | 188 |
GO:00091162 | Oral cavity | OSCC | nucleoside metabolic process | 37/7305 | 62/18723 | 7.79e-04 | 4.23e-03 | 37 |
GO:19012938 | Oral cavity | OSCC | nucleoside phosphate biosynthetic process | 125/7305 | 256/18723 | 8.32e-04 | 4.41e-03 | 125 |
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 |
PRPSAP2 | SNV | Missense_Mutation | | c.931N>C | p.Glu311Gln | p.E311Q | O60256 | protein_coding | tolerated(0.07) | benign(0.082) | TCGA-AC-A23H-01 | Breast | breast invasive carcinoma | Female | >=65 | I/II | Unknown | Unknown | PD |
PRPSAP2 | SNV | Missense_Mutation | | c.820N>A | p.Asp274Asn | p.D274N | O60256 | protein_coding | tolerated(0.07) | benign(0.072) | TCGA-BH-A0HF-01 | Breast | breast invasive carcinoma | Female | >=65 | I/II | Hormone Therapy | arimidex | SD |
PRPSAP2 | SNV | Missense_Mutation | | c.182T>C | p.Val61Ala | p.V61A | O60256 | protein_coding | deleterious(0) | possibly_damaging(0.902) | TCGA-C8-A135-01 | Breast | breast invasive carcinoma | Female | <65 | I/II | Chemotherapy | 5-fluorouracil | CR |
PRPSAP2 | deletion | Frame_Shift_Del | novel | c.1066delG | p.Glu356SerfsTer10 | p.E356Sfs*10 | O60256 | protein_coding | | | TCGA-EW-A2FV-01 | Breast | breast invasive carcinoma | Female | <65 | III/IV | Chemotherapy | docetaxel | SD |
PRPSAP2 | SNV | Missense_Mutation | | c.949G>C | p.Glu317Gln | p.E317Q | O60256 | protein_coding | tolerated(0.13) | benign(0.115) | TCGA-EK-A3GK-01 | Cervix | cervical & endocervical cancer | Female | <65 | I/II | Unknown | Unknown | SD |
PRPSAP2 | SNV | Missense_Mutation | rs201454078 | c.1048C>T | p.Arg350Cys | p.R350C | O60256 | protein_coding | deleterious(0) | probably_damaging(1) | TCGA-AA-3949-01 | Colorectum | colon adenocarcinoma | Female | >=65 | III/IV | Unknown | Unknown | SD |
PRPSAP2 | SNV | Missense_Mutation | | c.572N>T | p.Ala191Val | p.A191V | O60256 | protein_coding | deleterious(0.01) | benign(0.044) | TCGA-CM-4743-01 | Colorectum | colon adenocarcinoma | Male | >=65 | I/II | Chemotherapy | capecitabine | SD |
PRPSAP2 | SNV | Missense_Mutation | novel | c.409N>T | p.Ala137Ser | p.A137S | O60256 | protein_coding | tolerated(0.27) | benign(0.251) | TCGA-A5-A0G2-01 | Endometrium | uterine corpus endometrioid carcinoma | Female | <65 | III/IV | Unknown | Unknown | SD |
PRPSAP2 | SNV | Missense_Mutation | rs750128219 | c.236N>T | p.Ser79Leu | p.S79L | O60256 | protein_coding | tolerated(0.16) | possibly_damaging(0.523) | TCGA-AJ-A5DW-01 | Endometrium | uterine corpus endometrioid carcinoma | Female | <65 | I/II | Unknown | Unknown | SD |
PRPSAP2 | SNV | Missense_Mutation | | c.14C>T | p.Thr5Met | p.T5M | O60256 | protein_coding | deleterious_low_confidence(0.02) | benign(0.09) | TCGA-AP-A0LM-01 | Endometrium | uterine corpus endometrioid carcinoma | Female | <65 | III/IV | Chemotherapy | cisplatin | SD |