GO ID | Tissue | Disease Stage | Description | Gene Ratio | Bg Ratio | pvalue | p.adjust | Count |
GO:00713755 | Liver | NAFLD | cellular response to peptide hormone stimulus | 65/1882 | 290/18723 | 3.95e-10 | 9.62e-08 | 65 |
GO:19016536 | Liver | NAFLD | cellular response to peptide | 71/1882 | 359/18723 | 1.82e-08 | 2.09e-06 | 71 |
GO:00328695 | Liver | NAFLD | cellular response to insulin stimulus | 47/1882 | 203/18723 | 3.60e-08 | 3.63e-06 | 47 |
GO:00434346 | Liver | NAFLD | response to peptide hormone | 76/1882 | 414/18723 | 1.51e-07 | 1.09e-05 | 76 |
GO:00458617 | Liver | NAFLD | negative regulation of proteolysis | 66/1882 | 351/18723 | 4.02e-07 | 2.58e-05 | 66 |
GO:00328685 | Liver | NAFLD | response to insulin | 53/1882 | 264/18723 | 6.99e-07 | 3.95e-05 | 53 |
GO:00082863 | Liver | NAFLD | insulin receptor signaling pathway | 27/1882 | 116/18723 | 2.50e-05 | 6.76e-04 | 27 |
GO:0002526 | Liver | NAFLD | acute inflammatory response | 26/1882 | 112/18723 | 3.68e-05 | 9.23e-04 | 26 |
GO:00513467 | Liver | NAFLD | negative regulation of hydrolase activity | 62/1882 | 379/18723 | 8.11e-05 | 1.66e-03 | 62 |
GO:00525477 | Liver | NAFLD | regulation of peptidase activity | 72/1882 | 461/18723 | 1.03e-04 | 2.03e-03 | 72 |
GO:00525487 | Liver | NAFLD | regulation of endopeptidase activity | 67/1882 | 432/18723 | 2.17e-04 | 3.70e-03 | 67 |
GO:0046626 | Liver | NAFLD | regulation of insulin receptor signaling pathway | 16/1882 | 66/18723 | 6.66e-04 | 8.61e-03 | 16 |
GO:00109517 | Liver | NAFLD | negative regulation of endopeptidase activity | 42/1882 | 252/18723 | 7.29e-04 | 9.29e-03 | 42 |
GO:0006953 | Liver | NAFLD | acute-phase response | 13/1882 | 49/18723 | 8.43e-04 | 1.03e-02 | 13 |
GO:00104667 | Liver | NAFLD | negative regulation of peptidase activity | 43/1882 | 262/18723 | 8.76e-04 | 1.07e-02 | 43 |
GO:1900076 | Liver | NAFLD | regulation of cellular response to insulin stimulus | 15/1882 | 64/18723 | 1.40e-03 | 1.57e-02 | 15 |
GO:0050764 | Liver | NAFLD | regulation of phagocytosis | 19/1882 | 95/18723 | 2.61e-03 | 2.41e-02 | 19 |
GO:0050766 | Liver | NAFLD | positive regulation of phagocytosis | 14/1882 | 66/18723 | 5.28e-03 | 4.08e-02 | 14 |
GO:005254712 | Liver | Cirrhotic | regulation of peptidase activity | 185/4634 | 461/18723 | 1.32e-13 | 1.09e-11 | 185 |
GO:005254812 | Liver | Cirrhotic | regulation of endopeptidase activity | 172/4634 | 432/18723 | 2.12e-12 | 1.58e-10 | 172 |
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 |
AHSG | SNV | Missense_Mutation | | c.875N>T | p.Gly292Val | p.G292V | P02765 | protein_coding | tolerated(0.34) | benign(0.001) | TCGA-A2-A04T-01 | Breast | breast invasive carcinoma | Female | <65 | I/II | Chemotherapy | cyclophosphamide | SD |
AHSG | SNV | Missense_Mutation | novel | c.186N>T | p.Gln62His | p.Q62H | P02765 | protein_coding | deleterious(0.01) | probably_damaging(0.951) | TCGA-A2-A25A-01 | Breast | breast invasive carcinoma | Female | <65 | I/II | Unspecific | Cytoxan | SD |
AHSG | insertion | Nonsense_Mutation | novel | c.998_999insCTTTGCAAATAAAAATGTATAATGTGAGGAAATTGGGTGCCA | p.Val333_Ser334insPheAlaAsnLysAsnValTerCysGluGluIleGlyCysGln | p.V333_S334insFANKNV*CEEIGCQ | P02765 | protein_coding | | | TCGA-B6-A0IK-01 | Breast | breast invasive carcinoma | Female | <65 | III/IV | Unknown | Unknown | PD |
AHSG | SNV | Missense_Mutation | | c.904N>A | p.Ala302Thr | p.A302T | P02765 | protein_coding | tolerated(0.17) | benign(0.082) | TCGA-AA-3715-01 | Colorectum | colon adenocarcinoma | Male | >=65 | I/II | Unknown | Unknown | PD |
AHSG | SNV | Missense_Mutation | | c.685N>G | p.Phe229Val | p.F229V | P02765 | protein_coding | deleterious(0) | possibly_damaging(0.886) | TCGA-AA-3977-01 | Colorectum | colon adenocarcinoma | Male | >=65 | I/II | Unknown | Unknown | SD |
AHSG | SNV | Missense_Mutation | rs766181399 | c.853G>A | p.Ala285Thr | p.A285T | P02765 | protein_coding | tolerated(0.58) | benign(0.005) | TCGA-D5-6928-01 | Colorectum | colon adenocarcinoma | Male | >=65 | I/II | Unknown | Unknown | SD |
AHSG | SNV | Missense_Mutation | novel | c.1075C>G | p.Pro359Ala | p.P359A | P02765 | protein_coding | deleterious(0) | probably_damaging(0.998) | TCGA-AG-3883-01 | Colorectum | rectum adenocarcinoma | Male | >=65 | I/II | Unknown | Unknown | SD |
AHSG | SNV | Missense_Mutation | rs774097503 | c.943G>A | p.Asp315Asn | p.D315N | P02765 | protein_coding | tolerated(0.18) | possibly_damaging(0.778) | TCGA-A5-A0VP-01 | Endometrium | uterine corpus endometrioid carcinoma | Female | >=65 | I/II | Unknown | Unknown | SD |
AHSG | SNV | Missense_Mutation | novel | c.431N>G | p.Lys144Arg | p.K144R | P02765 | protein_coding | tolerated(0.16) | benign(0.137) | TCGA-AJ-A2QL-01 | Endometrium | uterine corpus endometrioid carcinoma | Female | <65 | III/IV | Chemotherapy | cisplatin | CR |
AHSG | SNV | Missense_Mutation | rs376930727 | c.331G>A | p.Glu111Lys | p.E111K | P02765 | protein_coding | deleterious(0) | probably_damaging(0.928) | TCGA-AJ-A3EK-01 | Endometrium | uterine corpus endometrioid carcinoma | Female | <65 | I/II | Chemotherapy | carboplatin | CR |