GO ID | Tissue | Disease Stage | Description | Gene Ratio | Bg Ratio | pvalue | p.adjust | Count |
GO:0008380 | Colorectum | AD | RNA splicing | 169/3918 | 434/18723 | 3.59e-18 | 2.04e-15 | 169 |
GO:00083804 | Colorectum | FAP | RNA splicing | 108/2622 | 434/18723 | 7.90e-10 | 1.86e-07 | 108 |
GO:00083805 | Colorectum | CRC | RNA splicing | 90/2078 | 434/18723 | 2.80e-09 | 7.97e-07 | 90 |
GO:000838016 | Endometrium | AEH | RNA splicing | 111/2100 | 434/18723 | 2.42e-17 | 1.12e-14 | 111 |
GO:000838017 | Endometrium | EEC | RNA splicing | 111/2168 | 434/18723 | 2.45e-16 | 1.13e-13 | 111 |
GO:000838026 | Esophagus | HGIN | RNA splicing | 160/2587 | 434/18723 | 3.74e-34 | 1.12e-30 | 160 |
GO:002261327 | Esophagus | HGIN | ribonucleoprotein complex biogenesis | 158/2587 | 463/18723 | 2.61e-29 | 5.23e-26 | 158 |
GO:000037520 | Esophagus | HGIN | RNA splicing, via transesterification reactions | 115/2587 | 324/18723 | 3.16e-23 | 3.80e-20 | 115 |
GO:000037720 | Esophagus | HGIN | RNA splicing, via transesterification reactions with bulged adenosine as nucleophile | 113/2587 | 320/18723 | 1.24e-22 | 9.26e-20 | 113 |
GO:000039820 | Esophagus | HGIN | mRNA splicing, via spliceosome | 113/2587 | 320/18723 | 1.24e-22 | 9.26e-20 | 113 |
GO:007182627 | Esophagus | HGIN | ribonucleoprotein complex subunit organization | 84/2587 | 227/18723 | 1.34e-18 | 5.37e-16 | 84 |
GO:002261827 | Esophagus | HGIN | ribonucleoprotein complex assembly | 82/2587 | 220/18723 | 2.07e-18 | 7.36e-16 | 82 |
GO:00711665 | Esophagus | HGIN | ribonucleoprotein complex localization | 23/2587 | 77/18723 | 2.00e-04 | 3.72e-03 | 23 |
GO:0022613111 | Esophagus | ESCC | ribonucleoprotein complex biogenesis | 365/8552 | 463/18723 | 1.74e-49 | 1.11e-45 | 365 |
GO:0008380111 | Esophagus | ESCC | RNA splicing | 336/8552 | 434/18723 | 1.74e-42 | 3.67e-39 | 336 |
GO:0000375111 | Esophagus | ESCC | RNA splicing, via transesterification reactions | 248/8552 | 324/18723 | 3.05e-30 | 1.49e-27 | 248 |
GO:0000377111 | Esophagus | ESCC | RNA splicing, via transesterification reactions with bulged adenosine as nucleophile | 244/8552 | 320/18723 | 2.52e-29 | 1.07e-26 | 244 |
GO:0000398111 | Esophagus | ESCC | mRNA splicing, via spliceosome | 244/8552 | 320/18723 | 2.52e-29 | 1.07e-26 | 244 |
GO:0071826111 | Esophagus | ESCC | ribonucleoprotein complex subunit organization | 166/8552 | 227/18723 | 2.94e-17 | 2.42e-15 | 166 |
GO:0022618111 | Esophagus | ESCC | ribonucleoprotein complex assembly | 159/8552 | 220/18723 | 8.19e-16 | 5.71e-14 | 159 |
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 |
PRPF3 | SNV | Missense_Mutation | | c.770N>C | p.Ile257Thr | p.I257T | O43395 | protein_coding | deleterious(0) | possibly_damaging(0.642) | TCGA-B6-A0IC-01 | Breast | breast invasive carcinoma | Female | >=65 | I/II | Unknown | Unknown | SD |
PRPF3 | SNV | Missense_Mutation | | c.2041T>A | p.Ser681Thr | p.S681T | O43395 | protein_coding | tolerated(0.49) | benign(0.001) | TCGA-BH-A0BL-01 | Breast | breast invasive carcinoma | Female | <65 | I/II | Chemotherapy | adriamycin | CR |
PRPF3 | SNV | Missense_Mutation | | c.1052N>A | p.Leu351Gln | p.L351Q | O43395 | protein_coding | deleterious(0) | probably_damaging(0.999) | TCGA-D8-A1XK-01 | Breast | breast invasive carcinoma | Female | <65 | I/II | Chemotherapy | doxorubicine+cyclophosphamide | SD |
PRPF3 | insertion | Frame_Shift_Ins | novel | c.1812_1813insCAAGTAAAAA | p.Asp605GlnfsTer5 | p.D605Qfs*5 | O43395 | protein_coding | | | TCGA-A8-A08C-01 | Breast | breast invasive carcinoma | Female | >=65 | I/II | Chemotherapy | 5-fluorouracil | CR |
PRPF3 | insertion | Frame_Shift_Ins | novel | c.1759_1759+1insCGCGATCTCAGCGCACTGCAACCTCTGCCTCCCAAGTTCAA | p.Gly587AlafsTer30 | p.G587Afs*30 | O43395 | protein_coding | | | TCGA-A8-A08H-01 | Breast | breast invasive carcinoma | Female | >=65 | I/II | Unknown | Unknown | SD |
PRPF3 | SNV | Missense_Mutation | novel | c.142G>A | p.Ala48Thr | p.A48T | O43395 | protein_coding | tolerated(0.59) | benign(0.023) | TCGA-2W-A8YY-01 | Cervix | cervical & endocervical cancer | Female | <65 | I/II | Chemotherapy | cisplatin | CR |
PRPF3 | SNV | Missense_Mutation | rs782508157 | c.344G>A | p.Arg115His | p.R115H | O43395 | protein_coding | deleterious(0.04) | benign(0) | TCGA-2W-A8YY-01 | Cervix | cervical & endocervical cancer | Female | <65 | I/II | Chemotherapy | cisplatin | CR |
PRPF3 | SNV | Missense_Mutation | novel | c.937C>T | p.Pro313Ser | p.P313S | O43395 | protein_coding | tolerated(0.23) | benign(0.04) | TCGA-2W-A8YY-01 | Cervix | cervical & endocervical cancer | Female | <65 | I/II | Chemotherapy | cisplatin | CR |
PRPF3 | SNV | Missense_Mutation | | c.603G>C | p.Glu201Asp | p.E201D | O43395 | protein_coding | tolerated(0.33) | benign(0.005) | TCGA-C5-A3HE-01 | Cervix | cervical & endocervical cancer | Female | <65 | I/II | Unknown | Unknown | PD |
PRPF3 | SNV | Missense_Mutation | | c.736N>C | p.Glu246Gln | p.E246Q | O43395 | protein_coding | tolerated(0.33) | benign(0.099) | TCGA-EA-A78R-01 | Cervix | cervical & endocervical cancer | Female | <65 | I/II | Unknown | Unknown | SD |