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 | | c.717N>T | p.Gln239His | p.Q239H | P51513 | protein_coding | tolerated(0.1) | probably_damaging(0.977) | TCGA-AP-A059-01 | Endometrium | uterine corpus endometrioid carcinoma | Female | >=65 | I/II | Unknown | Unknown | SD |
NOVA1 | SNV | Missense_Mutation | | c.1376N>C | p.Lys459Thr | p.K459T | P51513 | protein_coding | deleterious(0) | probably_damaging(0.986) | TCGA-AP-A0LM-01 | Endometrium | uterine corpus endometrioid carcinoma | Female | <65 | III/IV | Chemotherapy | cisplatin | SD |
NOVA1 | SNV | Missense_Mutation | | c.163N>A | p.Leu55Ile | p.L55I | P51513 | protein_coding | deleterious(0.01) | benign(0.061) | TCGA-AP-A0LM-01 | Endometrium | uterine corpus endometrioid carcinoma | Female | <65 | III/IV | Chemotherapy | cisplatin | SD |
NOVA1 | SNV | Missense_Mutation | | c.160N>A | p.Val54Ile | p.V54I | P51513 | protein_coding | tolerated(0.6) | possibly_damaging(0.893) | TCGA-AP-A0LP-01 | Endometrium | uterine corpus endometrioid carcinoma | Female | >=65 | I/II | Hormone Therapy | megace | SD |
NOVA1 | SNV | Missense_Mutation | novel | c.359T>A | p.Ile120Asn | p.I120N | P51513 | protein_coding | deleterious(0) | possibly_damaging(0.571) | TCGA-AP-A1DK-01 | Endometrium | uterine corpus endometrioid carcinoma | Female | <65 | I/II | Unknown | Unknown | SD |
NOVA1 | SNV | Missense_Mutation | novel | c.1387N>G | p.Phe463Val | p.F463V | P51513 | protein_coding | deleterious(0) | probably_damaging(0.988) | TCGA-AP-A1DV-01 | Endometrium | uterine corpus endometrioid carcinoma | Female | <65 | I/II | Unknown | Unknown | SD |
NOVA1 | SNV | Missense_Mutation | novel | c.720N>T | p.Lys240Asn | p.K240N | P51513 | protein_coding | deleterious(0) | probably_damaging(0.978) | TCGA-AP-A1DV-01 | Endometrium | uterine corpus endometrioid carcinoma | Female | <65 | I/II | Unknown | Unknown | SD |
NOVA1 | SNV | Missense_Mutation | novel | c.575N>T | p.Ala192Val | p.A192V | P51513 | protein_coding | deleterious(0.02) | probably_damaging(0.971) | TCGA-AP-A1DV-01 | Endometrium | uterine corpus endometrioid carcinoma | Female | <65 | I/II | Unknown | Unknown | SD |
NOVA1 | SNV | Missense_Mutation | novel | c.1217N>T | p.Ala406Val | p.A406V | P51513 | protein_coding | tolerated(0.26) | benign(0.125) | TCGA-AX-A06F-01 | Endometrium | uterine corpus endometrioid carcinoma | Female | <65 | III/IV | Chemotherapy | carboplatin | SD |
NOVA1 | SNV | Missense_Mutation | | c.424N>A | p.Val142Ile | p.V142I | P51513 | protein_coding | tolerated(0.52) | possibly_damaging(0.899) | TCGA-AX-A0J0-01 | Endometrium | uterine corpus endometrioid carcinoma | Female | <65 | I/II | Unknown | Unknown | SD |