GO ID | Tissue | Disease Stage | Description | Gene Ratio | Bg Ratio | pvalue | p.adjust | Count |
GO:0072594110 | Esophagus | ESCC | establishment of protein localization to organelle | 311/8552 | 422/18723 | 3.02e-32 | 2.13e-29 | 311 |
GO:0006605111 | Esophagus | ESCC | protein targeting | 229/8552 | 314/18723 | 4.93e-23 | 1.01e-20 | 229 |
GO:00193958 | Esophagus | ESCC | fatty acid oxidation | 69/8552 | 103/18723 | 9.95e-06 | 9.44e-05 | 69 |
GO:00344407 | Esophagus | ESCC | lipid oxidation | 71/8552 | 108/18723 | 2.00e-05 | 1.74e-04 | 71 |
GO:00090628 | Esophagus | ESCC | fatty acid catabolic process | 66/8552 | 100/18723 | 3.21e-05 | 2.66e-04 | 66 |
GO:00066318 | Esophagus | ESCC | fatty acid metabolic process | 217/8552 | 390/18723 | 4.21e-05 | 3.39e-04 | 217 |
GO:00723297 | Esophagus | ESCC | monocarboxylic acid catabolic process | 74/8552 | 122/18723 | 6.03e-04 | 3.27e-03 | 74 |
GO:00442427 | Esophagus | ESCC | cellular lipid catabolic process | 121/8552 | 214/18723 | 8.63e-04 | 4.43e-03 | 121 |
GO:00442827 | Esophagus | ESCC | small molecule catabolic process | 201/8552 | 376/18723 | 1.35e-03 | 6.41e-03 | 201 |
GO:00302586 | Esophagus | ESCC | lipid modification | 116/8552 | 212/18723 | 4.90e-03 | 1.89e-02 | 116 |
GO:00066252 | Esophagus | ESCC | protein targeting to peroxisome | 14/8552 | 18/18723 | 5.77e-03 | 2.14e-02 | 14 |
GO:00726622 | Esophagus | ESCC | protein localization to peroxisome | 14/8552 | 18/18723 | 5.77e-03 | 2.14e-02 | 14 |
GO:00726632 | Esophagus | ESCC | establishment of protein localization to peroxisome | 14/8552 | 18/18723 | 5.77e-03 | 2.14e-02 | 14 |
GO:00160427 | Esophagus | ESCC | lipid catabolic process | 168/8552 | 320/18723 | 7.97e-03 | 2.84e-02 | 168 |
GO:00435742 | Esophagus | ESCC | peroxisomal transport | 16/8552 | 22/18723 | 9.46e-03 | 3.28e-02 | 16 |
GO:007259422 | Liver | HCC | establishment of protein localization to organelle | 299/7958 | 422/18723 | 1.06e-32 | 6.10e-30 | 299 |
GO:000660512 | Liver | HCC | protein targeting | 219/7958 | 314/18723 | 7.74e-23 | 1.49e-20 | 219 |
GO:000663122 | Liver | HCC | fatty acid metabolic process | 238/7958 | 390/18723 | 8.24e-14 | 4.84e-12 | 238 |
GO:004428221 | Liver | HCC | small molecule catabolic process | 225/7958 | 376/18723 | 6.50e-12 | 2.80e-10 | 225 |
GO:001605421 | Liver | HCC | organic acid catabolic process | 152/7958 | 240/18723 | 5.11e-11 | 1.92e-09 | 152 |
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 |
HACL1 | SNV | Missense_Mutation | novel | c.1169G>A | p.Arg390Lys | p.R390K | Q9UJ83 | protein_coding | tolerated(1) | benign(0) | TCGA-5L-AAT0-01 | Breast | breast invasive carcinoma | Female | <65 | I/II | Hormone Therapy | tamoxiphen | SD |
HACL1 | SNV | Missense_Mutation | novel | c.1318N>T | p.Ala440Ser | p.A440S | Q9UJ83 | protein_coding | tolerated(0.24) | benign(0.196) | TCGA-AN-A046-01 | Breast | breast invasive carcinoma | Female | >=65 | I/II | Unknown | Unknown | SD |
HACL1 | SNV | Missense_Mutation | rs770803683 | c.1125N>A | p.Met375Ile | p.M375I | Q9UJ83 | protein_coding | deleterious(0.04) | benign(0.157) | TCGA-AO-A0J7-01 | Breast | breast invasive carcinoma | Female | >=65 | I/II | Chemotherapy | doxorubicin | SD |
HACL1 | SNV | Missense_Mutation | | c.1601N>T | p.Thr534Ile | p.T534I | Q9UJ83 | protein_coding | deleterious(0) | probably_damaging(0.991) | TCGA-B6-A0I9-01 | Breast | breast invasive carcinoma | Female | <65 | III/IV | Unknown | Unknown | PD |
HACL1 | insertion | Frame_Shift_Ins | novel | c.1574_1575insG | p.Phe525LeufsTer27 | p.F525Lfs*27 | Q9UJ83 | protein_coding | | | TCGA-AN-A04A-01 | Breast | breast invasive carcinoma | Female | <65 | III/IV | Unknown | Unknown | SD |
HACL1 | insertion | Frame_Shift_Ins | novel | c.1572_1573insCTCCTGTGGGT | p.Phe525LeufsTer22 | p.F525Lfs*22 | Q9UJ83 | protein_coding | | | TCGA-AN-A04A-01 | Breast | breast invasive carcinoma | Female | <65 | III/IV | Unknown | Unknown | SD |
HACL1 | SNV | Missense_Mutation | rs140199501 | c.1693C>T | p.Arg565Trp | p.R565W | Q9UJ83 | protein_coding | deleterious(0) | probably_damaging(0.999) | TCGA-2W-A8YY-01 | Cervix | cervical & endocervical cancer | Female | <65 | I/II | Chemotherapy | cisplatin | CR |
HACL1 | SNV | Missense_Mutation | novel | c.875C>T | p.Pro292Leu | p.P292L | Q9UJ83 | protein_coding | deleterious(0) | probably_damaging(0.972) | TCGA-2W-A8YY-01 | Cervix | cervical & endocervical cancer | Female | <65 | I/II | Chemotherapy | cisplatin | CR |
HACL1 | SNV | Missense_Mutation | | c.229N>T | p.Pro77Ser | p.P77S | Q9UJ83 | protein_coding | deleterious(0) | probably_damaging(0.998) | TCGA-DR-A0ZM-01 | Cervix | cervical & endocervical cancer | Female | <65 | III/IV | Unspecific | Cisplatin | SD |
HACL1 | SNV | Missense_Mutation | | c.262C>G | p.Leu88Val | p.L88V | Q9UJ83 | protein_coding | tolerated(0.44) | possibly_damaging(0.609) | TCGA-Q1-A73O-01 | Cervix | cervical & endocervical cancer | Female | <65 | I/II | Chemotherapy | cisplatin | CR |