GO ID | Tissue | Disease Stage | Description | Gene Ratio | Bg Ratio | pvalue | p.adjust | Count |
GO:00083809 | Breast | Precancer | RNA splicing | 65/1080 | 434/18723 | 1.27e-12 | 2.53e-10 | 65 |
GO:00434849 | Breast | Precancer | regulation of RNA splicing | 34/1080 | 148/18723 | 2.66e-12 | 4.75e-10 | 34 |
GO:00003759 | Breast | Precancer | RNA splicing, via transesterification reactions | 52/1080 | 324/18723 | 1.74e-11 | 2.22e-09 | 52 |
GO:00003779 | Breast | Precancer | RNA splicing, via transesterification reactions with bulged adenosine as nucleophile | 51/1080 | 320/18723 | 3.55e-11 | 4.04e-09 | 51 |
GO:00003989 | Breast | Precancer | mRNA splicing, via spliceosome | 51/1080 | 320/18723 | 3.55e-11 | 4.04e-09 | 51 |
GO:00480249 | Breast | Precancer | regulation of mRNA splicing, via spliceosome | 22/1080 | 101/18723 | 5.29e-08 | 3.18e-06 | 22 |
GO:19033118 | Breast | Precancer | regulation of mRNA metabolic process | 38/1080 | 288/18723 | 1.63e-06 | 5.97e-05 | 38 |
GO:00506848 | Breast | Precancer | regulation of mRNA processing | 23/1080 | 137/18723 | 3.49e-06 | 1.13e-04 | 23 |
GO:00003808 | Breast | Precancer | alternative mRNA splicing, via spliceosome | 15/1080 | 77/18723 | 2.86e-05 | 6.37e-04 | 15 |
GO:00003818 | Breast | Precancer | regulation of alternative mRNA splicing, via spliceosome | 13/1080 | 60/18723 | 2.98e-05 | 6.58e-04 | 13 |
GO:000838014 | Breast | IDC | RNA splicing | 73/1434 | 434/18723 | 1.27e-10 | 1.57e-08 | 73 |
GO:004348414 | Breast | IDC | regulation of RNA splicing | 36/1434 | 148/18723 | 3.32e-10 | 3.77e-08 | 36 |
GO:000037514 | Breast | IDC | RNA splicing, via transesterification reactions | 58/1434 | 324/18723 | 9.44e-10 | 9.58e-08 | 58 |
GO:000037714 | Breast | IDC | RNA splicing, via transesterification reactions with bulged adenosine as nucleophile | 57/1434 | 320/18723 | 1.60e-09 | 1.49e-07 | 57 |
GO:000039814 | Breast | IDC | mRNA splicing, via spliceosome | 57/1434 | 320/18723 | 1.60e-09 | 1.49e-07 | 57 |
GO:004802414 | Breast | IDC | regulation of mRNA splicing, via spliceosome | 23/1434 | 101/18723 | 1.74e-06 | 7.28e-05 | 23 |
GO:005068413 | Breast | IDC | regulation of mRNA processing | 24/1434 | 137/18723 | 1.09e-04 | 2.04e-03 | 24 |
GO:190331113 | Breast | IDC | regulation of mRNA metabolic process | 40/1434 | 288/18723 | 1.79e-04 | 3.01e-03 | 40 |
GO:000038113 | Breast | IDC | regulation of alternative mRNA splicing, via spliceosome | 13/1434 | 60/18723 | 5.09e-04 | 6.65e-03 | 13 |
GO:000038013 | Breast | IDC | alternative mRNA splicing, via spliceosome | 15/1434 | 77/18723 | 6.51e-04 | 8.04e-03 | 15 |
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 |
NOVA1 | SNV | Missense_Mutation | novel | c.1177N>T | p.Ala393Ser | p.A393S | P51513 | protein_coding | tolerated(0.56) | benign(0.143) | TCGA-22-5471-01 | Lung | lung squamous cell carcinoma | Male | >=65 | I/II | Unknown | Unknown | PD |
NOVA1 | SNV | Missense_Mutation | novel | c.847N>T | p.Ala283Ser | p.A283S | P51513 | protein_coding | tolerated(0.32) | probably_damaging(0.971) | TCGA-33-AASI-01 | Lung | lung squamous cell carcinoma | Female | >=65 | I/II | Chemotherapy | taxotere | PD |
NOVA1 | SNV | Missense_Mutation | novel | c.1303N>T | p.Ala435Ser | p.A435S | P51513 | protein_coding | tolerated(0.07) | probably_damaging(0.955) | TCGA-39-5011-01 | Lung | lung squamous cell carcinoma | Female | >=65 | I/II | Chemotherapy | taxol | SD |
NOVA1 | SNV | Missense_Mutation | novel | c.1404N>C | p.Arg468Ser | p.R468S | P51513 | protein_coding | deleterious(0.01) | possibly_damaging(0.619) | TCGA-52-7810-01 | Lung | lung squamous cell carcinoma | Female | <65 | I/II | Unknown | Unknown | SD |
NOVA1 | SNV | Missense_Mutation | novel | c.388A>T | p.Thr130Ser | p.T130S | P51513 | protein_coding | tolerated(0.47) | benign(0.118) | TCGA-56-8305-01 | Lung | lung squamous cell carcinoma | Male | >=65 | I/II | Unknown | Unknown | SD |
NOVA1 | SNV | Missense_Mutation | novel | c.542N>T | p.Ser181Ile | p.S181I | P51513 | protein_coding | tolerated(0.05) | probably_damaging(0.975) | TCGA-58-8390-01 | Lung | lung squamous cell carcinoma | Male | >=65 | I/II | Unknown | Unknown | SD |
NOVA1 | SNV | Missense_Mutation | novel | c.541N>C | p.Ser181Arg | p.S181R | P51513 | protein_coding | deleterious(0.01) | probably_damaging(0.975) | TCGA-58-8390-01 | Lung | lung squamous cell carcinoma | Male | >=65 | I/II | Unknown | Unknown | SD |
NOVA1 | SNV | Missense_Mutation | | c.227N>T | p.Gln76Leu | p.Q76L | P51513 | protein_coding | deleterious(0.01) | possibly_damaging(0.888) | TCGA-60-2724-01 | Lung | lung squamous cell carcinoma | Male | <65 | III/IV | Chemotherapy | cisplatin | SD |
NOVA1 | SNV | Missense_Mutation | | c.1368N>T | p.Gln456His | p.Q456H | P51513 | protein_coding | deleterious(0) | probably_damaging(0.918) | TCGA-66-2773-01 | Lung | lung squamous cell carcinoma | Male | >=65 | I/II | Unknown | Unknown | SD |
NOVA1 | SNV | Missense_Mutation | novel | c.299G>T | p.Cys100Phe | p.C100F | P51513 | protein_coding | deleterious(0) | possibly_damaging(0.461) | TCGA-85-7699-01 | Lung | lung squamous cell carcinoma | Male | >=65 | III/IV | Chemotherapy | cisplatin | PD |