GO ID | Tissue | Disease Stage | Description | Gene Ratio | Bg Ratio | pvalue | p.adjust | Count |
GO:000989622 | Liver | HCC | positive regulation of catabolic process | 335/7958 | 492/18723 | 3.83e-31 | 1.87e-28 | 335 |
GO:003133122 | Liver | HCC | positive regulation of cellular catabolic process | 295/7958 | 427/18723 | 3.20e-29 | 1.45e-26 | 295 |
GO:001623621 | Liver | HCC | macroautophagy | 204/7958 | 291/18723 | 8.66e-22 | 1.41e-19 | 204 |
GO:002241112 | Liver | HCC | cellular component disassembly | 282/7958 | 443/18723 | 1.02e-19 | 1.38e-17 | 282 |
GO:001050621 | Liver | HCC | regulation of autophagy | 210/7958 | 317/18723 | 7.59e-18 | 8.45e-16 | 210 |
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:000989522 | Liver | HCC | negative regulation of catabolic process | 196/7958 | 320/18723 | 7.98e-12 | 3.35e-10 | 196 |
GO:003133022 | Liver | HCC | negative regulation of cellular catabolic process | 164/7958 | 262/18723 | 3.52e-11 | 1.35e-09 | 164 |
GO:004232622 | Liver | HCC | negative regulation of phosphorylation | 227/7958 | 385/18723 | 3.98e-11 | 1.52e-09 | 227 |
GO:005134822 | Liver | HCC | negative regulation of transferase activity | 166/7958 | 268/18723 | 8.97e-11 | 3.18e-09 | 166 |
GO:000703311 | Liver | HCC | vacuole organization | 119/7958 | 180/18723 | 1.22e-10 | 4.25e-09 | 119 |
GO:001624111 | Liver | HCC | regulation of macroautophagy | 96/7958 | 141/18723 | 6.82e-10 | 2.14e-08 | 96 |
GO:001063912 | Liver | HCC | negative regulation of organelle organization | 204/7958 | 348/18723 | 7.67e-10 | 2.37e-08 | 204 |
GO:003298411 | Liver | HCC | protein-containing complex disassembly | 138/7958 | 224/18723 | 5.59e-09 | 1.46e-07 | 138 |
GO:003367322 | Liver | HCC | negative regulation of kinase activity | 144/7958 | 237/18723 | 9.76e-09 | 2.45e-07 | 144 |
GO:000193322 | Liver | HCC | negative regulation of protein phosphorylation | 196/7958 | 342/18723 | 1.95e-08 | 4.63e-07 | 196 |
GO:19050371 | Liver | HCC | autophagosome organization | 70/7958 | 103/18723 | 1.52e-07 | 2.82e-06 | 70 |
GO:00105082 | Liver | HCC | positive regulation of autophagy | 81/7958 | 124/18723 | 2.34e-07 | 4.17e-06 | 81 |
GO:00000451 | Liver | HCC | autophagosome assembly | 67/7958 | 99/18723 | 3.56e-07 | 6.07e-06 | 67 |
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 |
SMCR8 | SNV | Missense_Mutation | rs760687586 | c.1804N>A | p.Ala602Thr | p.A602T | Q8TEV9 | protein_coding | tolerated(0.42) | benign(0) | TCGA-EO-A22T-01 | Endometrium | uterine corpus endometrioid carcinoma | Female | <65 | I/II | Unknown | Unknown | SD |
SMCR8 | SNV | Missense_Mutation | novel | c.607G>A | p.Asp203Asn | p.D203N | Q8TEV9 | protein_coding | deleterious(0.01) | benign(0.434) | TCGA-EO-A22U-01 | Endometrium | uterine corpus endometrioid carcinoma | Female | >=65 | I/II | Unknown | Unknown | SD |
SMCR8 | SNV | Missense_Mutation | novel | c.161N>T | p.Ser54Leu | p.S54L | Q8TEV9 | protein_coding | tolerated(0.2) | benign(0.06) | TCGA-EO-A22X-01 | Endometrium | uterine corpus endometrioid carcinoma | Female | <65 | III/IV | Unspecific | Carboplatin | Complete Response |
SMCR8 | SNV | Missense_Mutation | novel | c.2809N>C | p.Ile937Leu | p.I937L | Q8TEV9 | protein_coding | tolerated(0.1) | possibly_damaging(0.6) | TCGA-EO-A3B0-01 | Endometrium | uterine corpus endometrioid carcinoma | Female | <65 | III/IV | Unknown | Unknown | SD |
SMCR8 | SNV | Missense_Mutation | novel | c.25G>A | p.Ala9Thr | p.A9T | Q8TEV9 | protein_coding | deleterious(0.01) | probably_damaging(0.937) | TCGA-EY-A1GU-01 | Endometrium | uterine corpus endometrioid carcinoma | Female | >=65 | I/II | Unknown | Unknown | SD |
SMCR8 | SNV | Missense_Mutation | novel | c.2180T>C | p.Leu727Pro | p.L727P | Q8TEV9 | protein_coding | deleterious(0) | probably_damaging(0.998) | TCGA-EY-A1GU-01 | Endometrium | uterine corpus endometrioid carcinoma | Female | >=65 | I/II | Unknown | Unknown | SD |
SMCR8 | SNV | Missense_Mutation | rs144760050 | c.2281N>A | p.Ala761Thr | p.A761T | Q8TEV9 | protein_coding | tolerated(0.08) | benign(0.001) | TCGA-FI-A2D5-01 | Endometrium | uterine corpus endometrioid carcinoma | Female | <65 | III/IV | Chemotherapy | carboplatinum | PD |
SMCR8 | SNV | Missense_Mutation | novel | c.8N>A | p.Ser3Asn | p.S3N | Q8TEV9 | protein_coding | deleterious(0) | benign(0.156) | TCGA-FI-A2D6-01 | Endometrium | uterine corpus endometrioid carcinoma | Female | >=65 | I/II | Unknown | Unknown | SD |
SMCR8 | insertion | Frame_Shift_Ins | novel | c.2021_2022insGTATTGGGAAGGAGAGCGATGGT | p.Thr675TyrfsTer12 | p.T675Yfs*12 | Q8TEV9 | protein_coding | | | TCGA-AP-A052-01 | Endometrium | uterine corpus endometrioid carcinoma | Female | <65 | III/IV | Chemotherapy | carboplatin | PD |
SMCR8 | insertion | Frame_Shift_Ins | novel | c.2023_2024insGTTGGTGCTGCCCTCCACT | p.Thr675SerfsTer33 | p.T675Sfs*33 | Q8TEV9 | protein_coding | | | TCGA-AP-A052-01 | Endometrium | uterine corpus endometrioid carcinoma | Female | <65 | III/IV | Chemotherapy | carboplatin | PD |