GO ID | Tissue | Disease Stage | Description | Gene Ratio | Bg Ratio | pvalue | p.adjust | Count |
GO:0000082 | Liver | NAFLD | G1/S transition of mitotic cell cycle | 39/1882 | 214/18723 | 1.78e-04 | 3.14e-03 | 39 |
GO:00198273 | Liver | NAFLD | stem cell population maintenance | 26/1882 | 131/18723 | 5.40e-04 | 7.38e-03 | 26 |
GO:00015585 | Liver | NAFLD | regulation of cell growth | 63/1882 | 414/18723 | 5.50e-04 | 7.46e-03 | 63 |
GO:00003777 | Liver | NAFLD | RNA splicing, via transesterification reactions with bulged adenosine as nucleophile | 51/1882 | 320/18723 | 6.21e-04 | 8.18e-03 | 51 |
GO:00003987 | Liver | NAFLD | mRNA splicing, via spliceosome | 51/1882 | 320/18723 | 6.21e-04 | 8.18e-03 | 51 |
GO:00301774 | Liver | NAFLD | positive regulation of Wnt signaling pathway | 27/1882 | 140/18723 | 6.82e-04 | 8.76e-03 | 27 |
GO:00987273 | Liver | NAFLD | maintenance of cell number | 26/1882 | 134/18723 | 7.72e-04 | 9.73e-03 | 26 |
GO:00003757 | Liver | NAFLD | RNA splicing, via transesterification reactions | 51/1882 | 324/18723 | 8.28e-04 | 1.02e-02 | 51 |
GO:00300997 | Liver | NAFLD | myeloid cell differentiation | 55/1882 | 381/18723 | 3.86e-03 | 3.28e-02 | 55 |
GO:1901987 | Liver | NAFLD | regulation of cell cycle phase transition | 56/1882 | 390/18723 | 4.01e-03 | 3.36e-02 | 56 |
GO:0031648 | Liver | NAFLD | protein destabilization | 11/1882 | 46/18723 | 4.98e-03 | 3.91e-02 | 11 |
GO:01501043 | Liver | NAFLD | transport across blood-brain barrier | 17/1882 | 87/18723 | 5.46e-03 | 4.20e-02 | 17 |
GO:00165743 | Liver | NAFLD | histone ubiquitination | 11/1882 | 47/18723 | 5.92e-03 | 4.47e-02 | 11 |
GO:00102322 | Liver | NAFLD | vascular transport | 17/1882 | 88/18723 | 6.15e-03 | 4.61e-02 | 17 |
GO:00329682 | Liver | NAFLD | positive regulation of transcription elongation from RNA polymerase II promoter | 5/1882 | 13/18723 | 6.58e-03 | 4.69e-02 | 5 |
GO:000838012 | Liver | Cirrhotic | RNA splicing | 229/4634 | 434/18723 | 9.13e-37 | 2.86e-33 | 229 |
GO:002261312 | Liver | Cirrhotic | ribonucleoprotein complex biogenesis | 231/4634 | 463/18723 | 3.28e-32 | 6.86e-29 | 231 |
GO:000037512 | Liver | Cirrhotic | RNA splicing, via transesterification reactions | 175/4634 | 324/18723 | 5.95e-30 | 7.47e-27 | 175 |
GO:000037712 | Liver | Cirrhotic | RNA splicing, via transesterification reactions with bulged adenosine as nucleophile | 172/4634 | 320/18723 | 4.02e-29 | 3.60e-26 | 172 |
GO:000039812 | Liver | Cirrhotic | mRNA splicing, via spliceosome | 172/4634 | 320/18723 | 4.02e-29 | 3.60e-26 | 172 |
Pathway ID | Tissue | Disease Stage | Description | Gene Ratio | Bg Ratio | pvalue | p.adjust | qvalue | Count |
hsa0517122 | Liver | Cirrhotic | Coronavirus disease - COVID-19 | 136/2530 | 232/8465 | 3.28e-20 | 1.82e-18 | 1.12e-18 | 136 |
hsa046102 | Liver | Cirrhotic | Complement and coagulation cascades | 48/2530 | 86/8465 | 4.41e-07 | 5.44e-06 | 3.35e-06 | 48 |
hsa0481021 | Liver | Cirrhotic | Regulation of actin cytoskeleton | 100/2530 | 229/8465 | 5.28e-06 | 5.50e-05 | 3.39e-05 | 100 |
hsa0517132 | Liver | Cirrhotic | Coronavirus disease - COVID-19 | 136/2530 | 232/8465 | 3.28e-20 | 1.82e-18 | 1.12e-18 | 136 |
hsa046103 | Liver | Cirrhotic | Complement and coagulation cascades | 48/2530 | 86/8465 | 4.41e-07 | 5.44e-06 | 3.35e-06 | 48 |
hsa0481031 | Liver | Cirrhotic | Regulation of actin cytoskeleton | 100/2530 | 229/8465 | 5.28e-06 | 5.50e-05 | 3.39e-05 | 100 |
hsa0502022 | Liver | HCC | Prion disease | 195/4020 | 273/8465 | 3.26e-16 | 1.56e-14 | 8.67e-15 | 195 |
hsa0517142 | Liver | HCC | Coronavirus disease - COVID-19 | 167/4020 | 232/8465 | 1.50e-14 | 4.19e-13 | 2.33e-13 | 167 |
hsa046104 | Liver | HCC | Complement and coagulation cascades | 57/4020 | 86/8465 | 3.19e-04 | 1.45e-03 | 8.04e-04 | 57 |
hsa0481041 | Liver | HCC | Regulation of actin cytoskeleton | 134/4020 | 229/8465 | 4.48e-04 | 1.94e-03 | 1.08e-03 | 134 |
hsa0502032 | Liver | HCC | Prion disease | 195/4020 | 273/8465 | 3.26e-16 | 1.56e-14 | 8.67e-15 | 195 |
hsa0517152 | Liver | HCC | Coronavirus disease - COVID-19 | 167/4020 | 232/8465 | 1.50e-14 | 4.19e-13 | 2.33e-13 | 167 |
hsa046105 | Liver | HCC | Complement and coagulation cascades | 57/4020 | 86/8465 | 3.19e-04 | 1.45e-03 | 8.04e-04 | 57 |
hsa0481051 | Liver | HCC | Regulation of actin cytoskeleton | 134/4020 | 229/8465 | 4.48e-04 | 1.94e-03 | 1.08e-03 | 134 |
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 |
C7 | SNV | Missense_Mutation | | c.2353N>C | p.Glu785Gln | p.E785Q | P10643 | protein_coding | tolerated(1) | benign(0) | TCGA-A2-A0YK-01 | Breast | breast invasive carcinoma | Female | <65 | I/II | Chemotherapy | cytoxan | SD |
C7 | SNV | Missense_Mutation | | c.320C>T | p.Ser107Phe | p.S107F | P10643 | protein_coding | tolerated(0.21) | possibly_damaging(0.77) | TCGA-AN-A0XW-01 | Breast | breast invasive carcinoma | Female | <65 | III/IV | Unknown | Unknown | SD |
C7 | SNV | Missense_Mutation | rs376674018 | c.148N>T | p.Arg50Trp | p.R50W | P10643 | protein_coding | deleterious(0) | probably_damaging(0.991) | TCGA-AO-A03T-01 | Breast | breast invasive carcinoma | Female | <65 | I/II | Chemotherapy | cyclophosphamide | SD |
C7 | SNV | Missense_Mutation | | c.1639N>C | p.Asp547His | p.D547H | P10643 | protein_coding | deleterious(0) | probably_damaging(0.966) | TCGA-C8-A12P-01 | Breast | breast invasive carcinoma | Female | <65 | I/II | Unknown | Unknown | SD |
C7 | SNV | Missense_Mutation | | c.2037G>C | p.Trp679Cys | p.W679C | P10643 | protein_coding | deleterious(0) | probably_damaging(1) | TCGA-D8-A1JK-01 | Breast | breast invasive carcinoma | Female | >=65 | I/II | Unknown | Unknown | SD |
C7 | SNV | Missense_Mutation | | c.944T>C | p.Val315Ala | p.V315A | P10643 | protein_coding | tolerated(0.31) | benign(0.207) | TCGA-D8-A1XK-01 | Breast | breast invasive carcinoma | Female | <65 | I/II | Chemotherapy | doxorubicine+cyclophosphamide | SD |
C7 | SNV | Missense_Mutation | rs766182545 | c.2353N>A | p.Glu785Lys | p.E785K | P10643 | protein_coding | tolerated(0.07) | benign(0.003) | TCGA-D8-A27G-01 | Breast | breast invasive carcinoma | Female | >=65 | I/II | Unknown | Unknown | SD |
C7 | SNV | Missense_Mutation | novel | c.2451N>T | p.Glu817Asp | p.E817D | P10643 | protein_coding | deleterious(0.01) | probably_damaging(0.971) | TCGA-GI-A2C9-01 | Breast | breast invasive carcinoma | Female | <65 | I/II | Unspecific | | SD |
C7 | insertion | Frame_Shift_Ins | novel | c.1744_1745insGCATTAATCAGTATCTCTTGACTGAGGAAGC | p.Val582GlyfsTer14 | p.V582Gfs*14 | P10643 | protein_coding | | | TCGA-AN-A0FV-01 | Breast | breast invasive carcinoma | Female | <65 | I/II | Unknown | Unknown | SD |
C7 | insertion | In_Frame_Ins | novel | c.2350_2350+1insCTCTGA | p.Ala784_Glu785insLeuThr | p.A784_E785insLT | P10643 | protein_coding | | | TCGA-AR-A0U0-01 | Breast | breast invasive carcinoma | Female | >=65 | I/II | Unknown | Unknown | SD |