GO ID | Tissue | Disease Stage | Description | Gene Ratio | Bg Ratio | pvalue | p.adjust | Count |
GO:0022613111 | Esophagus | ESCC | ribonucleoprotein complex biogenesis | 365/8552 | 463/18723 | 1.74e-49 | 1.11e-45 | 365 |
GO:0042254111 | Esophagus | ESCC | ribosome biogenesis | 252/8552 | 299/18723 | 3.27e-44 | 1.04e-40 | 252 |
GO:003447015 | Esophagus | ESCC | ncRNA processing | 300/8552 | 395/18723 | 3.09e-35 | 3.26e-32 | 300 |
GO:0016072110 | Esophagus | ESCC | rRNA metabolic process | 197/8552 | 236/18723 | 1.31e-33 | 1.18e-30 | 197 |
GO:0006364110 | Esophagus | ESCC | rRNA processing | 189/8552 | 225/18723 | 4.88e-33 | 3.87e-30 | 189 |
GO:003466012 | Esophagus | ESCC | ncRNA metabolic process | 346/8552 | 485/18723 | 4.35e-31 | 2.51e-28 | 346 |
GO:0042274111 | Esophagus | ESCC | ribosomal small subunit biogenesis | 67/8552 | 73/18723 | 6.62e-17 | 5.38e-15 | 67 |
GO:00304904 | Esophagus | ESCC | maturation of SSU-rRNA | 45/8552 | 50/18723 | 5.07e-11 | 1.63e-09 | 45 |
GO:00004623 | Esophagus | ESCC | maturation of SSU-rRNA from tricistronic rRNA transcript (SSU-rRNA, 5.8S rRNA, LSU-rRNA) | 32/8552 | 37/18723 | 2.96e-07 | 4.23e-06 | 32 |
GO:002261322 | Liver | HCC | ribonucleoprotein complex biogenesis | 355/7958 | 463/18723 | 7.76e-52 | 4.92e-48 | 355 |
GO:004225422 | Liver | HCC | ribosome biogenesis | 246/7958 | 299/18723 | 4.99e-46 | 1.58e-42 | 246 |
GO:00344702 | Liver | HCC | ncRNA processing | 293/7958 | 395/18723 | 4.26e-38 | 6.76e-35 | 293 |
GO:001607212 | Liver | HCC | rRNA metabolic process | 193/7958 | 236/18723 | 1.26e-35 | 1.14e-32 | 193 |
GO:000636421 | Liver | HCC | rRNA processing | 185/7958 | 225/18723 | 8.14e-35 | 6.45e-32 | 185 |
GO:00346601 | Liver | HCC | ncRNA metabolic process | 332/7958 | 485/18723 | 1.48e-31 | 7.80e-29 | 332 |
GO:004227422 | Liver | HCC | ribosomal small subunit biogenesis | 65/7958 | 73/18723 | 1.09e-16 | 9.92e-15 | 65 |
GO:00304901 | Liver | HCC | maturation of SSU-rRNA | 43/7958 | 50/18723 | 2.35e-10 | 8.04e-09 | 43 |
GO:00004621 | Liver | HCC | maturation of SSU-rRNA from tricistronic rRNA transcript (SSU-rRNA, 5.8S rRNA, LSU-rRNA) | 30/7958 | 37/18723 | 1.78e-06 | 2.48e-05 | 30 |
GO:002261320 | Oral cavity | OSCC | ribonucleoprotein complex biogenesis | 333/7305 | 463/18723 | 8.28e-48 | 5.24e-44 | 333 |
GO:004225420 | Oral cavity | OSCC | ribosome biogenesis | 230/7305 | 299/18723 | 3.22e-41 | 6.80e-38 | 230 |
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 |
UTP4 | SNV | Missense_Mutation | | c.934N>T | p.Arg312Cys | p.R312C | Q969X6 | protein_coding | deleterious(0) | possibly_damaging(0.899) | TCGA-BH-A0HL-01 | Breast | breast invasive carcinoma | Female | <65 | I/II | Chemotherapy | cyclophosphamide | SD |
UTP4 | SNV | Missense_Mutation | | c.1413N>G | p.Phe471Leu | p.F471L | Q969X6 | protein_coding | tolerated(0.74) | benign(0) | TCGA-C8-A1HM-01 | Breast | breast invasive carcinoma | Female | >=65 | I/II | Chemotherapy | doxorubicin | CR |
UTP4 | SNV | Missense_Mutation | | c.1970N>C | p.Asp657Ala | p.D657A | Q969X6 | protein_coding | deleterious(0.01) | benign(0.386) | TCGA-E2-A15M-01 | Breast | breast invasive carcinoma | Female | >=65 | I/II | Hormone Therapy | arimidex | SD |
UTP4 | insertion | In_Frame_Ins | novel | c.1886_1894dupAATCAGATG | p.Glu629_Asp631dup | p.E629_D631dup | Q969X6 | protein_coding | | | TCGA-A2-A1G1-01 | Breast | breast invasive carcinoma | Female | >=65 | I/II | Unknown | Unknown | SD |
UTP4 | insertion | Frame_Shift_Ins | novel | c.658_659insCCCTCTTTGAAGCCCCACTTACTCCTTTTCTAGAATA | p.Phe220SerfsTer29 | p.F220Sfs*29 | Q969X6 | protein_coding | | | TCGA-BH-A0BD-01 | Breast | breast invasive carcinoma | Female | <65 | I/II | Chemotherapy | doxorubicin | SD |
UTP4 | insertion | Frame_Shift_Ins | novel | c.652_653insACCTGGATATGTCTGTCCGAGGAATATCCTTTGAAATAGTTAC | p.Val218AspfsTer33 | p.V218Dfs*33 | Q969X6 | protein_coding | | | TCGA-BH-A0H7-01 | Breast | breast invasive carcinoma | Female | >=65 | III/IV | Chemotherapy | doxorubicin | SD |
UTP4 | insertion | In_Frame_Ins | novel | c.824_825insACAAAAAAAGATGAGGTCTCACTATGTTGT | p.Gln276_Trp277insLysLysMetArgSerHisTyrValValGln | p.Q276_W277insKKMRSHYVVQ | Q969X6 | protein_coding | | | TCGA-BH-A0HF-01 | Breast | breast invasive carcinoma | Female | >=65 | I/II | Hormone Therapy | arimidex | SD |
UTP4 | SNV | Missense_Mutation | novel | c.769N>A | p.Glu257Lys | p.E257K | Q969X6 | protein_coding | deleterious(0.02) | benign(0.251) | TCGA-EK-A2GZ-01 | Cervix | cervical & endocervical cancer | Female | <65 | III/IV | Unknown | Unknown | SD |
UTP4 | SNV | Missense_Mutation | novel | c.592N>A | p.Val198Met | p.V198M | Q969X6 | protein_coding | deleterious(0) | possibly_damaging(0.766) | TCGA-AA-3692-01 | Colorectum | colon adenocarcinoma | Female | <65 | III/IV | Chemotherapy | folinic | PD |
UTP4 | SNV | Missense_Mutation | | c.1158G>T | p.Lys386Asn | p.K386N | Q969X6 | protein_coding | deleterious(0) | probably_damaging(0.963) | TCGA-AA-3977-01 | Colorectum | colon adenocarcinoma | Male | >=65 | I/II | Unknown | Unknown | SD |