GO ID | Tissue | Disease Stage | Description | Gene Ratio | Bg Ratio | pvalue | p.adjust | Count |
GO:000940820 | Skin | AK | response to heat | 29/1910 | 110/18723 | 1.18e-06 | 3.73e-05 | 29 |
GO:00073699 | Skin | AK | gastrulation | 41/1910 | 185/18723 | 1.32e-06 | 4.13e-05 | 41 |
GO:000155820 | Skin | AK | regulation of cell growth | 73/1910 | 414/18723 | 2.21e-06 | 6.27e-05 | 73 |
GO:19019907 | Skin | AK | regulation of mitotic cell cycle phase transition | 57/1910 | 299/18723 | 2.47e-06 | 6.76e-05 | 57 |
GO:00063549 | Skin | AK | DNA-templated transcription, elongation | 25/1910 | 91/18723 | 2.82e-06 | 7.60e-05 | 25 |
GO:003460524 | Skin | AK | cellular response to heat | 21/1910 | 69/18723 | 2.93e-06 | 7.82e-05 | 21 |
GO:00017045 | Skin | AK | formation of primary germ layer | 30/1910 | 121/18723 | 3.12e-06 | 8.17e-05 | 30 |
GO:000645726 | Skin | AK | protein folding | 44/1910 | 212/18723 | 3.54e-06 | 8.91e-05 | 44 |
GO:19019877 | Skin | AK | regulation of cell cycle phase transition | 69/1910 | 390/18723 | 3.69e-06 | 9.11e-05 | 69 |
GO:20000457 | Skin | AK | regulation of G1/S transition of mitotic cell cycle | 33/1910 | 142/18723 | 4.71e-06 | 1.12e-04 | 33 |
GO:00327867 | Skin | AK | positive regulation of DNA-templated transcription, elongation | 12/1910 | 27/18723 | 4.93e-06 | 1.16e-04 | 12 |
GO:004578716 | Skin | AK | positive regulation of cell cycle | 58/1910 | 313/18723 | 5.08e-06 | 1.19e-04 | 58 |
GO:190370625 | Skin | AK | regulation of hemopoiesis | 65/1910 | 367/18723 | 6.74e-06 | 1.52e-04 | 65 |
GO:006107725 | Skin | AK | chaperone-mediated protein folding | 20/1910 | 67/18723 | 6.97e-06 | 1.55e-04 | 20 |
GO:00063688 | Skin | AK | transcription elongation from RNA polymerase II promoter | 20/1910 | 69/18723 | 1.14e-05 | 2.37e-04 | 20 |
GO:005086317 | Skin | AK | regulation of T cell activation | 59/1910 | 329/18723 | 1.20e-05 | 2.46e-04 | 59 |
GO:000645825 | Skin | AK | 'de novo' protein folding | 15/1910 | 43/18723 | 1.21e-05 | 2.46e-04 | 15 |
GO:000715919 | Skin | AK | leukocyte cell-cell adhesion | 64/1910 | 371/18723 | 1.87e-05 | 3.52e-04 | 64 |
GO:00074927 | Skin | AK | endoderm development | 21/1910 | 77/18723 | 1.95e-05 | 3.64e-04 | 21 |
GO:19028066 | Skin | AK | regulation of cell cycle G1/S phase transition | 35/1910 | 168/18723 | 3.11e-05 | 5.26e-04 | 35 |
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 |