GO ID | Tissue | Disease Stage | Description | Gene Ratio | Bg Ratio | pvalue | p.adjust | Count |
GO:0052547111 | Esophagus | ESCC | regulation of peptidase activity | 275/8552 | 461/18723 | 7.54e-10 | 1.88e-08 | 275 |
GO:0052548111 | Esophagus | ESCC | regulation of endopeptidase activity | 253/8552 | 432/18723 | 3.68e-08 | 6.78e-07 | 253 |
GO:0045861111 | Esophagus | ESCC | negative regulation of proteolysis | 195/8552 | 351/18723 | 1.13e-04 | 7.85e-04 | 195 |
GO:0051346110 | Esophagus | ESCC | negative regulation of hydrolase activity | 208/8552 | 379/18723 | 1.76e-04 | 1.14e-03 | 208 |
GO:001046620 | Esophagus | ESCC | negative regulation of peptidase activity | 140/8552 | 262/18723 | 6.73e-03 | 2.46e-02 | 140 |
GO:001095119 | Esophagus | ESCC | negative regulation of endopeptidase activity | 135/8552 | 252/18723 | 6.86e-03 | 2.51e-02 | 135 |
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 |
GO:004586112 | Liver | Cirrhotic | negative regulation of proteolysis | 136/4634 | 351/18723 | 3.46e-09 | 1.42e-07 | 136 |
GO:005134612 | Liver | Cirrhotic | negative regulation of hydrolase activity | 139/4634 | 379/18723 | 1.24e-07 | 3.42e-06 | 139 |
GO:001095111 | Liver | Cirrhotic | negative regulation of endopeptidase activity | 98/4634 | 252/18723 | 4.19e-07 | 9.77e-06 | 98 |
GO:001046612 | Liver | Cirrhotic | negative regulation of peptidase activity | 100/4634 | 262/18723 | 8.90e-07 | 1.84e-05 | 100 |
GO:005254722 | Liver | HCC | regulation of peptidase activity | 247/7958 | 461/18723 | 8.28e-07 | 1.27e-05 | 247 |
GO:005254822 | Liver | HCC | regulation of endopeptidase activity | 230/7958 | 432/18723 | 3.58e-06 | 4.68e-05 | 230 |
GO:004586122 | Liver | HCC | negative regulation of proteolysis | 186/7958 | 351/18723 | 4.19e-05 | 4.11e-04 | 186 |
GO:005134622 | Liver | HCC | negative regulation of hydrolase activity | 195/7958 | 379/18723 | 2.44e-04 | 1.82e-03 | 195 |
GO:001095121 | Liver | HCC | negative regulation of endopeptidase activity | 129/7958 | 252/18723 | 3.17e-03 | 1.47e-02 | 129 |
GO:001046621 | Liver | HCC | negative regulation of peptidase activity | 132/7958 | 262/18723 | 5.82e-03 | 2.42e-02 | 132 |
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 |
ITIH5 | SNV | Missense_Mutation | novel | c.2104N>A | p.Asp702Asn | p.D702N | | protein_coding | deleterious(0.01) | probably_damaging(0.999) | TCGA-A1-A0SH-01 | Breast | breast invasive carcinoma | Female | <65 | I/II | Chemotherapy | tc | SD |
ITIH5 | SNV | Missense_Mutation | | c.187C>A | p.Arg63Ser | p.R63S | | protein_coding | deleterious(0.01) | probably_damaging(0.978) | TCGA-A8-A07B-01 | Breast | breast invasive carcinoma | Female | >=65 | I/II | Unknown | Unknown | SD |
ITIH5 | SNV | Missense_Mutation | novel | c.1607N>T | p.Lys536Met | p.K536M | | protein_coding | tolerated(0.08) | probably_damaging(0.914) | TCGA-AN-A03X-01 | Breast | breast invasive carcinoma | Female | >=65 | I/II | Unknown | Unknown | SD |
ITIH5 | SNV | Missense_Mutation | rs767409400 | c.1938C>G | p.Ser646Arg | p.S646R | | protein_coding | tolerated(0.12) | benign(0.361) | TCGA-AN-A0FJ-01 | Breast | breast invasive carcinoma | Female | <65 | III/IV | Unknown | Unknown | SD |
ITIH5 | SNV | Missense_Mutation | novel | c.464N>C | p.Gly155Ala | p.G155A | | protein_coding | deleterious(0.01) | probably_damaging(0.999) | TCGA-B6-A0I2-01 | Breast | breast invasive carcinoma | Female | <65 | I/II | Unknown | Unknown | SD |
ITIH5 | SNV | Missense_Mutation | rs745793204 | c.736C>T | p.Arg246Cys | p.R246C | | protein_coding | deleterious(0) | benign(0.16) | TCGA-C8-A12P-01 | Breast | breast invasive carcinoma | Female | <65 | I/II | Unknown | Unknown | SD |
ITIH5 | SNV | Missense_Mutation | novel | c.2012A>G | p.Gln671Arg | p.Q671R | | protein_coding | tolerated(0.85) | benign(0.003) | TCGA-D8-A1XK-01 | Breast | breast invasive carcinoma | Female | <65 | I/II | Chemotherapy | doxorubicine+cyclophosphamide | SD |
ITIH5 | SNV | Missense_Mutation | novel | c.2041N>T | p.Ile681Phe | p.I681F | | protein_coding | deleterious(0.01) | probably_damaging(1) | TCGA-E9-A1R2-01 | Breast | breast invasive carcinoma | Female | <65 | III/IV | Chemotherapy | taxotere | CR |
ITIH5 | insertion | Frame_Shift_Ins | novel | c.1555_1556insCCAACGCCAATGTCACCGTCACCATCCAGGGCTCCATAGCCTTTGTC | p.Gly519AlafsTer88 | p.G519Afs*88 | | protein_coding | | | TCGA-A2-A0D1-01 | Breast | breast invasive carcinoma | Female | >=65 | I/II | Chemotherapy | taxotere | SD |
ITIH5 | insertion | In_Frame_Ins | novel | c.1593_1594insGTCACCATCCAGGGCTCCATAGCCTTTGTC | p.Thr531_Ile532insValThrIleGlnGlySerIleAlaPheVal | p.T531_I532insVTIQGSIAFV | | protein_coding | | | TCGA-A8-A07R-01 | Breast | breast invasive carcinoma | Female | >=65 | III/IV | Ancillary | zoledronic | SD |