GO ID | Tissue | Disease Stage | Description | Gene Ratio | Bg Ratio | pvalue | p.adjust | Count |
GO:001593117 | Esophagus | ESCC | nucleobase-containing compound transport | 162/8552 | 222/18723 | 9.87e-17 | 7.93e-15 | 162 |
GO:00065757 | Esophagus | ESCC | cellular modified amino acid metabolic process | 112/8552 | 188/18723 | 8.31e-05 | 6.06e-04 | 112 |
GO:00067671 | Esophagus | ESCC | water-soluble vitamin metabolic process | 41/8552 | 59/18723 | 1.84e-04 | 1.17e-03 | 41 |
GO:00067661 | Esophagus | ESCC | vitamin metabolic process | 67/8552 | 106/18723 | 2.03e-04 | 1.28e-03 | 67 |
GO:00425584 | Esophagus | ESCC | pteridine-containing compound metabolic process | 25/8552 | 33/18723 | 4.30e-04 | 2.43e-03 | 25 |
GO:00436485 | Esophagus | ESCC | dicarboxylic acid metabolic process | 58/8552 | 96/18723 | 2.55e-03 | 1.09e-02 | 58 |
GO:00067602 | Esophagus | ESCC | folic acid-containing compound metabolic process | 19/8552 | 26/18723 | 4.31e-03 | 1.71e-02 | 19 |
GO:00466551 | Esophagus | ESCC | folic acid metabolic process | 11/8552 | 14/18723 | 1.30e-02 | 4.27e-02 | 11 |
GO:001593111 | Liver | HCC | nucleobase-containing compound transport | 150/7958 | 222/18723 | 3.17e-14 | 2.03e-12 | 150 |
GO:000657521 | Liver | HCC | cellular modified amino acid metabolic process | 119/7958 | 188/18723 | 6.47e-09 | 1.67e-07 | 119 |
GO:00436482 | Liver | HCC | dicarboxylic acid metabolic process | 68/7958 | 96/18723 | 1.73e-08 | 4.14e-07 | 68 |
GO:00425581 | Liver | HCC | pteridine-containing compound metabolic process | 28/7958 | 33/18723 | 6.57e-07 | 1.03e-05 | 28 |
GO:00067601 | Liver | HCC | folic acid-containing compound metabolic process | 22/7958 | 26/18723 | 1.23e-05 | 1.39e-04 | 22 |
GO:0006767 | Liver | HCC | water-soluble vitamin metabolic process | 39/7958 | 59/18723 | 2.14e-04 | 1.63e-03 | 39 |
GO:0046655 | Liver | HCC | folic acid metabolic process | 12/7958 | 14/18723 | 1.17e-03 | 6.54e-03 | 12 |
GO:1901264 | Liver | HCC | carbohydrate derivative transport | 48/7958 | 80/18723 | 1.19e-03 | 6.62e-03 | 48 |
GO:015010411 | Liver | HCC | transport across blood-brain barrier | 50/7958 | 87/18723 | 3.42e-03 | 1.55e-02 | 50 |
GO:001023211 | Liver | HCC | vascular transport | 50/7958 | 88/18723 | 4.69e-03 | 2.02e-02 | 50 |
GO:00075651 | Liver | HCC | female pregnancy | 99/7958 | 193/18723 | 8.24e-03 | 3.23e-02 | 99 |
GO:0006766 | Liver | HCC | vitamin metabolic process | 57/7958 | 106/18723 | 1.25e-02 | 4.53e-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 |
SLC19A1 | SNV | Missense_Mutation | novel | c.1063N>T | p.His355Tyr | p.H355Y | P41440 | protein_coding | tolerated(1) | benign(0) | TCGA-AJ-A2QO-01 | Endometrium | uterine corpus endometrioid carcinoma | Female | >=65 | I/II | Unknown | Unknown | SD |
SLC19A1 | SNV | Missense_Mutation | | c.1624N>G | p.Thr542Ala | p.T542A | P41440 | protein_coding | tolerated_low_confidence(1) | benign(0) | TCGA-AP-A059-01 | Endometrium | uterine corpus endometrioid carcinoma | Female | >=65 | I/II | Unknown | Unknown | SD |
SLC19A1 | SNV | Missense_Mutation | | c.584N>C | p.Phe195Ser | p.F195S | P41440 | protein_coding | deleterious(0) | probably_damaging(0.947) | TCGA-AP-A059-01 | Endometrium | uterine corpus endometrioid carcinoma | Female | >=65 | I/II | Unknown | Unknown | SD |
SLC19A1 | SNV | Missense_Mutation | | c.1222N>G | p.Thr408Ala | p.T408A | P41440 | protein_coding | tolerated(0.27) | probably_damaging(0.982) | TCGA-AX-A0J1-01 | Endometrium | uterine corpus endometrioid carcinoma | Female | >=65 | I/II | Unknown | Unknown | SD |
SLC19A1 | SNV | Missense_Mutation | novel | c.838N>T | p.Gly280Cys | p.G280C | P41440 | protein_coding | deleterious(0) | probably_damaging(0.999) | TCGA-AX-A2HA-01 | Endometrium | uterine corpus endometrioid carcinoma | Female | <65 | I/II | Unknown | Unknown | SD |
SLC19A1 | SNV | Missense_Mutation | novel | c.655C>T | p.Arg219Trp | p.R219W | P41440 | protein_coding | deleterious(0.01) | benign(0.017) | TCGA-AX-A2HC-01 | Endometrium | uterine corpus endometrioid carcinoma | Female | <65 | III/IV | Chemotherapy | paclitaxel | PD |
SLC19A1 | SNV | Missense_Mutation | novel | c.1580N>C | p.Gln527Pro | p.Q527P | P41440 | protein_coding | tolerated_low_confidence(0.32) | benign(0) | TCGA-AX-A2HD-01 | Endometrium | uterine corpus endometrioid carcinoma | Female | >=65 | III/IV | Unknown | Unknown | SD |
SLC19A1 | SNV | Missense_Mutation | rs374060592 | c.613N>T | p.Arg205Cys | p.R205C | P41440 | protein_coding | deleterious(0.01) | probably_damaging(0.995) | TCGA-AX-A2HD-01 | Endometrium | uterine corpus endometrioid carcinoma | Female | >=65 | III/IV | Unknown | Unknown | SD |
SLC19A1 | SNV | Missense_Mutation | novel | c.314N>T | p.Ser105Leu | p.S105L | P41440 | protein_coding | tolerated(0.3) | possibly_damaging(0.488) | TCGA-AX-A2HD-01 | Endometrium | uterine corpus endometrioid carcinoma | Female | >=65 | III/IV | Unknown | Unknown | SD |
SLC19A1 | SNV | Missense_Mutation | rs201230009 | c.394N>A | p.Ala132Thr | p.A132T | P41440 | protein_coding | tolerated(0.66) | probably_damaging(0.987) | TCGA-AX-A3FS-01 | Endometrium | uterine corpus endometrioid carcinoma | Female | >=65 | I/II | Unknown | Unknown | SD |
Entrez ID | Symbol | Category | Interaction Types | Drug Claim Name | Drug Name | PMIDs |
6573 | SLC19A1 | TRANSPORTER, EXTERNAL SIDE OF PLASMA MEMBRANE, DRUGGABLE GENOME | | Folic Acid | | |
6573 | SLC19A1 | TRANSPORTER, EXTERNAL SIDE OF PLASMA MEMBRANE, DRUGGABLE GENOME | | RALTITREXED | RALTITREXED | 21879757 |
6573 | SLC19A1 | TRANSPORTER, EXTERNAL SIDE OF PLASMA MEMBRANE, DRUGGABLE GENOME | | leucovorin | LEUCOVORIN | 16115875 |
6573 | SLC19A1 | TRANSPORTER, EXTERNAL SIDE OF PLASMA MEMBRANE, DRUGGABLE GENOME | | cisplatin | CISPLATIN | 16875718 |
6573 | SLC19A1 | TRANSPORTER, EXTERNAL SIDE OF PLASMA MEMBRANE, DRUGGABLE GENOME | | Methotrexate | METHOTREXATE | |
6573 | SLC19A1 | TRANSPORTER, EXTERNAL SIDE OF PLASMA MEMBRANE, DRUGGABLE GENOME | | fluorouracil | FLUOROURACIL | 16875718 |
6573 | SLC19A1 | TRANSPORTER, EXTERNAL SIDE OF PLASMA MEMBRANE, DRUGGABLE GENOME | | PEMETREXED | PEMETREXED | 21879757 |
6573 | SLC19A1 | TRANSPORTER, EXTERNAL SIDE OF PLASMA MEMBRANE, DRUGGABLE GENOME | | Platinum compounds | | 29662106 |
6573 | SLC19A1 | TRANSPORTER, EXTERNAL SIDE OF PLASMA MEMBRANE, DRUGGABLE GENOME | | 178101388 | | |
6573 | SLC19A1 | TRANSPORTER, EXTERNAL SIDE OF PLASMA MEMBRANE, DRUGGABLE GENOME | | raltitrexed | RALTITREXED | 11705857 |