GO ID | Tissue | Disease Stage | Description | Gene Ratio | Bg Ratio | pvalue | p.adjust | Count |
GO:0050764 | Liver | NAFLD | regulation of phagocytosis | 19/1882 | 95/18723 | 2.61e-03 | 2.41e-02 | 19 |
GO:00028313 | Liver | NAFLD | regulation of response to biotic stimulus | 49/1882 | 327/18723 | 2.94e-03 | 2.66e-02 | 49 |
GO:1901655 | Liver | NAFLD | cellular response to ketone | 19/1882 | 96/18723 | 2.95e-03 | 2.67e-02 | 19 |
GO:19043755 | Liver | NAFLD | regulation of protein localization to cell periphery | 23/1882 | 125/18723 | 3.09e-03 | 2.77e-02 | 23 |
GO:00480082 | Liver | NAFLD | platelet-derived growth factor receptor signaling pathway | 13/1882 | 56/18723 | 3.12e-03 | 2.79e-02 | 13 |
GO:00482556 | Liver | NAFLD | mRNA stabilization | 13/1882 | 56/18723 | 3.12e-03 | 2.79e-02 | 13 |
GO:00064137 | Liver | NAFLD | translational initiation | 22/1882 | 118/18723 | 3.18e-03 | 2.84e-02 | 22 |
GO:19030765 | Liver | NAFLD | regulation of protein localization to plasma membrane | 20/1882 | 104/18723 | 3.30e-03 | 2.93e-02 | 20 |
GO:0032102 | Liver | NAFLD | negative regulation of response to external stimulus | 60/1882 | 420/18723 | 3.34e-03 | 2.93e-02 | 60 |
GO:0060330 | Liver | NAFLD | regulation of response to interferon-gamma | 6/1882 | 16/18723 | 3.37e-03 | 2.93e-02 | 6 |
GO:0060334 | Liver | NAFLD | regulation of interferon-gamma-mediated signaling pathway | 6/1882 | 16/18723 | 3.37e-03 | 2.93e-02 | 6 |
GO:00459275 | Liver | NAFLD | positive regulation of growth | 40/1882 | 259/18723 | 4.00e-03 | 3.35e-02 | 40 |
GO:00902764 | Liver | NAFLD | regulation of peptide hormone secretion | 32/1882 | 196/18723 | 4.06e-03 | 3.40e-02 | 32 |
GO:00450696 | Liver | NAFLD | regulation of viral genome replication | 17/1882 | 85/18723 | 4.27e-03 | 3.54e-02 | 17 |
GO:00325356 | Liver | NAFLD | regulation of cellular component size | 55/1882 | 383/18723 | 4.31e-03 | 3.55e-02 | 55 |
GO:00303075 | Liver | NAFLD | positive regulation of cell growth | 28/1882 | 166/18723 | 4.35e-03 | 3.57e-02 | 28 |
GO:00989745 | Liver | NAFLD | postsynaptic actin cytoskeleton organization | 5/1882 | 12/18723 | 4.41e-03 | 3.57e-02 | 5 |
GO:00355926 | Liver | NAFLD | establishment of protein localization to extracellular region | 52/1882 | 360/18723 | 4.80e-03 | 3.81e-02 | 52 |
GO:00064465 | Liver | NAFLD | regulation of translational initiation | 16/1882 | 79/18723 | 4.82e-03 | 3.82e-02 | 16 |
GO:00507147 | Liver | NAFLD | positive regulation of protein secretion | 24/1882 | 137/18723 | 4.89e-03 | 3.85e-02 | 24 |
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 |
RP1 | SNV | Missense_Mutation | novel | c.81G>C | p.Leu27Phe | p.L27F | P56715 | protein_coding | tolerated(0.65) | benign(0.007) | TCGA-3C-AALI-01 | Breast | breast invasive carcinoma | Female | <65 | I/II | Unspecific | Poly E | Complete Response |
RP1 | SNV | Missense_Mutation | rs747714373 | c.2978C>G | p.Ser993Cys | p.S993C | P56715 | protein_coding | deleterious(0.02) | possibly_damaging(0.781) | TCGA-5L-AAT0-01 | Breast | breast invasive carcinoma | Female | <65 | I/II | Hormone Therapy | tamoxiphen | SD |
RP1 | SNV | Missense_Mutation | | c.4362C>A | p.Ser1454Arg | p.S1454R | P56715 | protein_coding | deleterious(0) | probably_damaging(0.968) | TCGA-A2-A0CW-01 | Breast | breast invasive carcinoma | Female | >=65 | I/II | Hormone Therapy | anastrozole | SD |
RP1 | SNV | Missense_Mutation | novel | c.1138N>T | p.Pro380Ser | p.P380S | | protein_coding | deleterious(0.04) | probably_damaging(0.923) | TCGA-A2-A3XV-01 | Breast | breast invasive carcinoma | Female | <65 | I/II | Chemotherapy | carboplatin | CR |
RP1 | SNV | Missense_Mutation | novel | c.983N>G | p.Lys328Arg | p.K328R | | protein_coding | deleterious(0.01) | probably_damaging(0.994) | TCGA-A7-A4SF-01 | Breast | breast invasive carcinoma | Female | <65 | I/II | Chemotherapy | carboplatin | CR |
RP1 | SNV | Missense_Mutation | | c.2516N>C | p.Gln839Pro | p.Q839P | P56715 | protein_coding | deleterious(0.03) | possibly_damaging(0.641) | TCGA-A8-A06X-01 | Breast | breast invasive carcinoma | Female | >=65 | I/II | Unknown | Unknown | SD |
RP1 | SNV | Missense_Mutation | novel | c.4466C>T | p.Ala1489Val | p.A1489V | P56715 | protein_coding | tolerated(0.22) | benign(0.01) | TCGA-A8-A092-01 | Breast | breast invasive carcinoma | Female | <65 | III/IV | Chemotherapy | paclitaxel | CR |
RP1 | SNV | Missense_Mutation | | c.2675N>T | p.Ala892Val | p.A892V | P56715 | protein_coding | tolerated(0.14) | benign(0.039) | TCGA-A8-A09B-01 | Breast | breast invasive carcinoma | Female | <65 | III/IV | Chemotherapy | 5-fluorouracil | SD |
RP1 | SNV | Missense_Mutation | | c.1895N>T | p.Ser632Leu | p.S632L | P56715 | protein_coding | tolerated(0.2) | benign(0.042) | TCGA-AC-A23H-01 | Breast | breast invasive carcinoma | Female | >=65 | I/II | Unknown | Unknown | PD |
RP1 | SNV | Missense_Mutation | | c.4027N>A | p.Asp1343Asn | p.D1343N | P56715 | protein_coding | tolerated(0.07) | benign(0) | TCGA-AN-A041-01 | Breast | breast invasive carcinoma | Female | <65 | I/II | Unknown | Unknown | SD |