GO ID | Tissue | Disease Stage | Description | Gene Ratio | Bg Ratio | pvalue | p.adjust | Count |
GO:0030099111 | Esophagus | ESCC | myeloid cell differentiation | 232/8552 | 381/18723 | 1.22e-09 | 2.90e-08 | 232 |
GO:0002262111 | Esophagus | ESCC | myeloid cell homeostasis | 104/8552 | 157/18723 | 1.49e-07 | 2.36e-06 | 104 |
GO:0034101111 | Esophagus | ESCC | erythrocyte homeostasis | 88/8552 | 129/18723 | 1.81e-07 | 2.84e-06 | 88 |
GO:0048872111 | Esophagus | ESCC | homeostasis of number of cells | 163/8552 | 272/18723 | 1.40e-06 | 1.69e-05 | 163 |
GO:0030218111 | Esophagus | ESCC | erythrocyte differentiation | 80/8552 | 120/18723 | 2.69e-06 | 3.08e-05 | 80 |
GO:00067791 | Esophagus | ESCC | porphyrin-containing compound biosynthetic process | 23/8552 | 31/18723 | 1.20e-03 | 5.88e-03 | 23 |
GO:00330141 | Esophagus | ESCC | tetrapyrrole biosynthetic process | 23/8552 | 31/18723 | 1.20e-03 | 5.88e-03 | 23 |
GO:00461482 | Esophagus | ESCC | pigment biosynthetic process | 40/8552 | 62/18723 | 2.14e-03 | 9.54e-03 | 40 |
GO:00067832 | Esophagus | ESCC | heme biosynthetic process | 20/8552 | 27/18723 | 2.61e-03 | 1.11e-02 | 20 |
GO:00330132 | Esophagus | ESCC | tetrapyrrole metabolic process | 37/8552 | 59/18723 | 6.23e-03 | 2.29e-02 | 37 |
GO:00424401 | Esophagus | ESCC | pigment metabolic process | 50/8552 | 84/18723 | 7.34e-03 | 2.64e-02 | 50 |
GO:00421681 | Esophagus | ESCC | heme metabolic process | 27/8552 | 42/18723 | 1.16e-02 | 3.90e-02 | 27 |
GO:00488727 | Liver | NAFLD | homeostasis of number of cells | 43/1882 | 272/18723 | 1.86e-03 | 1.91e-02 | 43 |
GO:00341017 | Liver | NAFLD | erythrocyte homeostasis | 24/1882 | 129/18723 | 2.18e-03 | 2.12e-02 | 24 |
GO:00022627 | Liver | NAFLD | myeloid cell homeostasis | 27/1882 | 157/18723 | 3.85e-03 | 3.28e-02 | 27 |
GO:00300997 | Liver | NAFLD | myeloid cell differentiation | 55/1882 | 381/18723 | 3.86e-03 | 3.28e-02 | 55 |
GO:0061515 | Liver | NAFLD | myeloid cell development | 15/1882 | 71/18723 | 4.12e-03 | 3.44e-02 | 15 |
GO:003009912 | Liver | Cirrhotic | myeloid cell differentiation | 135/4634 | 381/18723 | 1.69e-06 | 3.22e-05 | 135 |
GO:003410112 | Liver | Cirrhotic | erythrocyte homeostasis | 54/4634 | 129/18723 | 1.41e-05 | 1.97e-04 | 54 |
GO:00302187 | Liver | Cirrhotic | erythrocyte differentiation | 50/4634 | 120/18723 | 3.35e-05 | 4.13e-04 | 50 |
Pathway ID | Tissue | Disease Stage | Description | Gene Ratio | Bg Ratio | pvalue | p.adjust | qvalue | Count |
hsa012405 | Esophagus | ESCC | Biosynthesis of cofactors | 97/4205 | 153/8465 | 3.88e-04 | 1.35e-03 | 6.94e-04 | 97 |
hsa0124012 | Esophagus | ESCC | Biosynthesis of cofactors | 97/4205 | 153/8465 | 3.88e-04 | 1.35e-03 | 6.94e-04 | 97 |
hsa01240 | Liver | Cirrhotic | Biosynthesis of cofactors | 66/2530 | 153/8465 | 3.11e-04 | 1.99e-03 | 1.23e-03 | 66 |
hsa00260 | Liver | Cirrhotic | Glycine, serine and threonine metabolism | 22/2530 | 40/8465 | 7.85e-04 | 4.51e-03 | 2.78e-03 | 22 |
hsa012401 | Liver | Cirrhotic | Biosynthesis of cofactors | 66/2530 | 153/8465 | 3.11e-04 | 1.99e-03 | 1.23e-03 | 66 |
hsa002601 | Liver | Cirrhotic | Glycine, serine and threonine metabolism | 22/2530 | 40/8465 | 7.85e-04 | 4.51e-03 | 2.78e-03 | 22 |
hsa012402 | Liver | HCC | Biosynthesis of cofactors | 103/4020 | 153/8465 | 4.67e-07 | 5.05e-06 | 2.81e-06 | 103 |
hsa002602 | Liver | HCC | Glycine, serine and threonine metabolism | 28/4020 | 40/8465 | 3.28e-03 | 1.07e-02 | 5.93e-03 | 28 |
hsa012403 | Liver | HCC | Biosynthesis of cofactors | 103/4020 | 153/8465 | 4.67e-07 | 5.05e-06 | 2.81e-06 | 103 |
hsa002603 | Liver | HCC | Glycine, serine and threonine metabolism | 28/4020 | 40/8465 | 3.28e-03 | 1.07e-02 | 5.93e-03 | 28 |
hsa012404 | Oral cavity | OSCC | Biosynthesis of cofactors | 88/3704 | 153/8465 | 3.84e-04 | 1.20e-03 | 6.12e-04 | 88 |
hsa0124011 | Oral cavity | OSCC | Biosynthesis of cofactors | 88/3704 | 153/8465 | 3.84e-04 | 1.20e-03 | 6.12e-04 | 88 |
hsa0124021 | Oral cavity | LP | Biosynthesis of cofactors | 57/2418 | 153/8465 | 1.17e-02 | 3.91e-02 | 2.52e-02 | 57 |
hsa0124031 | Oral cavity | LP | Biosynthesis of cofactors | 57/2418 | 153/8465 | 1.17e-02 | 3.91e-02 | 2.52e-02 | 57 |
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 |
ALAS1 | SNV | Missense_Mutation | | c.238N>A | p.Asp80Asn | p.D80N | P13196 | protein_coding | tolerated_low_confidence(0.62) | benign(0) | TCGA-AC-A23H-01 | Breast | breast invasive carcinoma | Female | >=65 | I/II | Unknown | Unknown | PD |
ALAS1 | SNV | Missense_Mutation | | c.673N>G | p.Arg225Gly | p.R225G | P13196 | protein_coding | tolerated(0.33) | benign(0.079) | TCGA-D8-A1XQ-01 | Breast | breast invasive carcinoma | Female | >=65 | I/II | Unknown | Unknown | SD |
ALAS1 | SNV | Missense_Mutation | novel | c.487N>G | p.Pro163Ala | p.P163A | P13196 | protein_coding | tolerated(0.86) | benign(0) | TCGA-LL-A8F5-01 | Breast | breast invasive carcinoma | Female | <65 | I/II | Chemotherapy | cyclophosphamide | SD |
ALAS1 | insertion | Nonsense_Mutation | novel | c.1449_1450insCTACACAAAATAAAAATTTAAAAAATCAGCCA | p.Gly484LeufsTer7 | p.G484Lfs*7 | P13196 | protein_coding | | | TCGA-AO-A0J2-01 | Breast | breast invasive carcinoma | Female | <65 | I/II | Chemotherapy | cyclophosphamide | SD |
ALAS1 | SNV | Missense_Mutation | novel | c.701A>G | p.Asp234Gly | p.D234G | P13196 | protein_coding | deleterious(0.01) | benign(0.434) | TCGA-2W-A8YY-01 | Cervix | cervical & endocervical cancer | Female | <65 | I/II | Chemotherapy | cisplatin | CR |
ALAS1 | SNV | Missense_Mutation | novel | c.1787A>G | p.Gln596Arg | p.Q596R | P13196 | protein_coding | tolerated(0.26) | benign(0) | TCGA-2W-A8YY-01 | Cervix | cervical & endocervical cancer | Female | <65 | I/II | Chemotherapy | cisplatin | CR |
ALAS1 | SNV | Missense_Mutation | novel | c.953N>T | p.Ser318Leu | p.S318L | P13196 | protein_coding | deleterious(0) | possibly_damaging(0.904) | TCGA-C5-A3HE-01 | Cervix | cervical & endocervical cancer | Female | <65 | I/II | Unknown | Unknown | PD |
ALAS1 | SNV | Missense_Mutation | rs140582251 | c.916N>A | p.Ala306Thr | p.A306T | P13196 | protein_coding | deleterious(0) | probably_damaging(0.998) | TCGA-EA-A410-01 | Cervix | cervical & endocervical cancer | Female | <65 | I/II | Unknown | Unknown | SD |
ALAS1 | SNV | Missense_Mutation | novel | c.1241N>T | p.His414Leu | p.H414L | P13196 | protein_coding | deleterious(0) | probably_damaging(0.988) | TCGA-MA-AA42-01 | Cervix | cervical & endocervical cancer | Female | >=65 | I/II | Unknown | Unknown | SD |
ALAS1 | SNV | Missense_Mutation | rs769075509 | c.20G>A | p.Arg7His | p.R7H | P13196 | protein_coding | tolerated(0.26) | benign(0.125) | TCGA-VS-A9UY-01 | Cervix | cervical & endocervical cancer | Female | <65 | I/II | Chemotherapy | cisplatin | PD |