GO ID | Tissue | Disease Stage | Description | Gene Ratio | Bg Ratio | pvalue | p.adjust | Count |
GO:004586222 | Liver | HCC | positive regulation of proteolysis | 232/7958 | 372/18723 | 5.66e-15 | 3.98e-13 | 232 |
GO:001056322 | Liver | HCC | negative regulation of phosphorus metabolic process | 259/7958 | 442/18723 | 4.29e-12 | 1.92e-10 | 259 |
GO:004593622 | Liver | HCC | negative regulation of phosphate metabolic process | 258/7958 | 441/18723 | 6.00e-12 | 2.60e-10 | 258 |
GO:004232622 | Liver | HCC | negative regulation of phosphorylation | 227/7958 | 385/18723 | 3.98e-11 | 1.52e-09 | 227 |
GO:000193322 | Liver | HCC | negative regulation of protein phosphorylation | 196/7958 | 342/18723 | 1.95e-08 | 4.63e-07 | 196 |
GO:004328112 | Liver | HCC | regulation of cysteine-type endopeptidase activity involved in apoptotic process | 125/7958 | 209/18723 | 3.12e-07 | 5.42e-06 | 125 |
GO:200011612 | Liver | HCC | regulation of cysteine-type endopeptidase activity | 137/7958 | 235/18723 | 6.91e-07 | 1.08e-05 | 137 |
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:000724912 | Liver | HCC | I-kappaB kinase/NF-kappaB signaling | 156/7958 | 281/18723 | 6.66e-06 | 8.00e-05 | 156 |
GO:004312212 | Liver | HCC | regulation of I-kappaB kinase/NF-kappaB signaling | 138/7958 | 249/18723 | 2.47e-05 | 2.58e-04 | 138 |
GO:001095212 | Liver | HCC | positive regulation of peptidase activity | 110/7958 | 197/18723 | 1.04e-04 | 8.98e-04 | 110 |
GO:00467775 | Liver | HCC | protein autophosphorylation | 123/7958 | 227/18723 | 2.40e-04 | 1.80e-03 | 123 |
GO:00434097 | Liver | HCC | negative regulation of MAPK cascade | 98/7958 | 180/18723 | 7.88e-04 | 4.74e-03 | 98 |
GO:00510902 | Liver | HCC | regulation of DNA-binding transcription factor activity | 220/7958 | 440/18723 | 8.04e-04 | 4.82e-03 | 220 |
GO:001095012 | Liver | HCC | positive regulation of endopeptidase activity | 96/7958 | 179/18723 | 1.68e-03 | 8.79e-03 | 96 |
GO:19012242 | Liver | HCC | positive regulation of NIK/NF-kappaB signaling | 41/7958 | 69/18723 | 3.38e-03 | 1.54e-02 | 41 |
GO:00380611 | Liver | HCC | NIK/NF-kappaB signaling | 77/7958 | 143/18723 | 3.98e-03 | 1.76e-02 | 77 |
GO:004328012 | Liver | HCC | positive regulation of cysteine-type endopeptidase activity involved in apoptotic process | 70/7958 | 129/18723 | 4.58e-03 | 1.97e-02 | 70 |
GO:200105612 | Liver | HCC | positive regulation of cysteine-type endopeptidase activity | 79/7958 | 148/18723 | 4.82e-03 | 2.03e-02 | 79 |
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 |
NLRP12 | SNV | Missense_Mutation | | c.889G>A | p.Asp297Asn | p.D297N | P59046 | protein_coding | deleterious(0.03) | benign(0.312) | TCGA-AX-A1CE-01 | Endometrium | uterine corpus endometrioid carcinoma | Female | <65 | I/II | Unspecific | Paclitaxel | SD |
NLRP12 | SNV | Missense_Mutation | novel | c.3114N>T | p.Met1038Ile | p.M1038I | P59046 | protein_coding | tolerated(0.15) | benign(0.011) | TCGA-AX-A2HC-01 | Endometrium | uterine corpus endometrioid carcinoma | Female | <65 | III/IV | Chemotherapy | paclitaxel | PD |
NLRP12 | SNV | Missense_Mutation | novel | c.2423N>T | p.Arg808Met | p.R808M | P59046 | protein_coding | tolerated(0.13) | probably_damaging(0.923) | TCGA-AX-A2HC-01 | Endometrium | uterine corpus endometrioid carcinoma | Female | <65 | III/IV | Chemotherapy | paclitaxel | PD |
NLRP12 | SNV | Missense_Mutation | rs765948822 | c.1207N>A | p.Val403Ile | p.V403I | P59046 | protein_coding | tolerated(0.64) | benign(0.157) | TCGA-AX-A2HC-01 | Endometrium | uterine corpus endometrioid carcinoma | Female | <65 | III/IV | Chemotherapy | paclitaxel | PD |
NLRP12 | SNV | Missense_Mutation | novel | c.739N>A | p.Leu247Ile | p.L247I | P59046 | protein_coding | tolerated(0.16) | benign(0.024) | TCGA-AX-A2HC-01 | Endometrium | uterine corpus endometrioid carcinoma | Female | <65 | III/IV | Chemotherapy | paclitaxel | PD |
NLRP12 | SNV | Missense_Mutation | novel | c.2409N>T | p.Gln803His | p.Q803H | P59046 | protein_coding | deleterious(0) | probably_damaging(0.979) | TCGA-AX-A2HD-01 | Endometrium | uterine corpus endometrioid carcinoma | Female | >=65 | III/IV | Unknown | Unknown | SD |
NLRP12 | SNV | Missense_Mutation | novel | c.2216N>C | p.Arg739Thr | p.R739T | P59046 | protein_coding | tolerated(0.07) | benign(0.046) | TCGA-AX-A3FS-01 | Endometrium | uterine corpus endometrioid carcinoma | Female | >=65 | I/II | Unknown | Unknown | SD |
NLRP12 | SNV | Missense_Mutation | | c.581N>C | p.Ile194Thr | p.I194T | P59046 | protein_coding | tolerated(0.14) | probably_damaging(0.956) | TCGA-B5-A11H-01 | Endometrium | uterine corpus endometrioid carcinoma | Female | >=65 | III/IV | Hormone Therapy | megace | SD |
NLRP12 | SNV | Missense_Mutation | | c.728N>T | p.Arg243Ile | p.R243I | P59046 | protein_coding | deleterious(0) | probably_damaging(0.979) | TCGA-B5-A11N-01 | Endometrium | uterine corpus endometrioid carcinoma | Female | >=65 | I/II | Unknown | Unknown | SD |
NLRP12 | SNV | Missense_Mutation | rs374108426 | c.632G>A | p.Arg211His | p.R211H | P59046 | protein_coding | tolerated(0.85) | benign(0.043) | TCGA-B5-A3FC-01 | Endometrium | uterine corpus endometrioid carcinoma | Female | <65 | I/II | Unknown | Unknown | SD |