GO ID | Tissue | Disease Stage | Description | Gene Ratio | Bg Ratio | pvalue | p.adjust | Count |
GO:007048228 | Thyroid | ATC | response to oxygen levels | 193/6293 | 347/18723 | 1.83e-17 | 1.93e-15 | 193 |
GO:003629328 | Thyroid | ATC | response to decreased oxygen levels | 177/6293 | 322/18723 | 1.81e-15 | 1.32e-13 | 177 |
GO:000166628 | Thyroid | ATC | response to hypoxia | 169/6293 | 307/18723 | 6.58e-15 | 4.12e-13 | 169 |
GO:000170126 | Thyroid | ATC | in utero embryonic development | 183/6293 | 367/18723 | 6.62e-11 | 2.11e-09 | 183 |
GO:006056222 | Thyroid | ATC | epithelial tube morphogenesis | 156/6293 | 325/18723 | 4.48e-08 | 8.14e-07 | 156 |
GO:004876221 | Thyroid | ATC | mesenchymal cell differentiation | 116/6293 | 236/18723 | 5.08e-07 | 7.30e-06 | 116 |
GO:006048521 | Thyroid | ATC | mesenchyme development | 136/6293 | 291/18723 | 2.04e-06 | 2.43e-05 | 136 |
GO:000176317 | Thyroid | ATC | morphogenesis of a branching structure | 96/6293 | 196/18723 | 5.68e-06 | 6.04e-05 | 96 |
GO:006113815 | Thyroid | ATC | morphogenesis of a branching epithelium | 88/6293 | 182/18723 | 2.55e-05 | 2.20e-04 | 88 |
GO:004886321 | Thyroid | ATC | stem cell differentiation | 97/6293 | 206/18723 | 3.88e-05 | 3.15e-04 | 97 |
GO:00487545 | Thyroid | ATC | branching morphogenesis of an epithelial tube | 71/6293 | 151/18723 | 4.18e-04 | 2.50e-03 | 71 |
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 |
EDNRA | SNV | Missense_Mutation | rs139739379 | c.121C>T | p.Arg41Cys | p.R41C | P25101 | protein_coding | tolerated_low_confidence(0.09) | benign(0.118) | TCGA-AN-A046-01 | Breast | breast invasive carcinoma | Female | >=65 | I/II | Unknown | Unknown | SD |
EDNRA | SNV | Missense_Mutation | rs751925818 | c.433C>T | p.Arg145Cys | p.R145C | P25101 | protein_coding | deleterious(0.01) | possibly_damaging(0.892) | TCGA-C8-A1HF-01 | Breast | breast invasive carcinoma | Female | <65 | I/II | Unknown | Unknown | SD |
EDNRA | insertion | In_Frame_Ins | novel | c.213_214insAGTAAA | p.Gln71_Gln72insSerLys | p.Q71_Q72insSK | P25101 | protein_coding | | | TCGA-AN-A04A-01 | Breast | breast invasive carcinoma | Female | <65 | III/IV | Unknown | Unknown | SD |
EDNRA | insertion | Nonsense_Mutation | novel | c.214_215insTCATTTTATGAATTT | p.Gln72delinsLeuIleLeuTerIleTer | p.Q72delinsLIL*I* | P25101 | protein_coding | | | TCGA-AN-A04A-01 | Breast | breast invasive carcinoma | Female | <65 | III/IV | Unknown | Unknown | SD |
EDNRA | deletion | Frame_Shift_Del | | c.827delN | p.Leu277SerfsTer2 | p.L277Sfs*2 | P25101 | protein_coding | | | TCGA-D8-A27V-01 | Breast | breast invasive carcinoma | Female | <65 | I/II | Hormone Therapy | tamoxiphen | SD |
EDNRA | SNV | Missense_Mutation | novel | c.872G>C | p.Arg291Thr | p.R291T | P25101 | protein_coding | deleterious(0.01) | probably_damaging(0.944) | TCGA-C5-A902-01 | Cervix | cervical & endocervical cancer | Female | <65 | I/II | Chemotherapy | cisplatin | SD |
EDNRA | SNV | Missense_Mutation | | c.1234N>G | p.Gln412Glu | p.Q412E | P25101 | protein_coding | tolerated(0.38) | benign(0) | TCGA-IR-A3LH-01 | Cervix | cervical & endocervical cancer | Female | <65 | I/II | Chemotherapy | cisplatin | CR |
EDNRA | SNV | Missense_Mutation | | c.703N>G | p.Gln235Glu | p.Q235E | P25101 | protein_coding | tolerated(1) | benign(0) | TCGA-A6-3808-01 | Colorectum | colon adenocarcinoma | Male | >=65 | I/II | Unknown | Unknown | SD |
EDNRA | SNV | Missense_Mutation | novel | c.680T>A | p.Val227Glu | p.V227E | P25101 | protein_coding | deleterious(0.01) | possibly_damaging(0.875) | TCGA-AA-3811-01 | Colorectum | colon adenocarcinoma | Female | >=65 | III/IV | Unknown | Unknown | PD |
EDNRA | SNV | Missense_Mutation | | c.469N>A | p.Leu157Ile | p.L157I | P25101 | protein_coding | tolerated(0.15) | possibly_damaging(0.53) | TCGA-AA-3977-01 | Colorectum | colon adenocarcinoma | Male | >=65 | I/II | Unknown | Unknown | SD |
Entrez ID | Symbol | Category | Interaction Types | Drug Claim Name | Drug Name | PMIDs |
1909 | EDNRA | DRUGGABLE GENOME, G PROTEIN COUPLED RECEPTOR | antagonist | 178100518 | ZIBOTENTAN | |
1909 | EDNRA | DRUGGABLE GENOME, G PROTEIN COUPLED RECEPTOR | antagonist | CHEMBL1111 | AMBRISENTAN | |
1909 | EDNRA | DRUGGABLE GENOME, G PROTEIN COUPLED RECEPTOR | | SITAXSENTAN | SITAXENTAN | |
1909 | EDNRA | DRUGGABLE GENOME, G PROTEIN COUPLED RECEPTOR | | SPI-1620 | IRL-1620 | |
1909 | EDNRA | DRUGGABLE GENOME, G PROTEIN COUPLED RECEPTOR | agonist | 135652579 | | |
1909 | EDNRA | DRUGGABLE GENOME, G PROTEIN COUPLED RECEPTOR | antagonist | CHEMBL957 | BOSENTAN | |
1909 | EDNRA | DRUGGABLE GENOME, G PROTEIN COUPLED RECEPTOR | | PD-145065 | | |
1909 | EDNRA | DRUGGABLE GENOME, G PROTEIN COUPLED RECEPTOR | antagonist | 135652048 | BQ-123 | |
1909 | EDNRA | DRUGGABLE GENOME, G PROTEIN COUPLED RECEPTOR | agonist | 135651742 | | |
1909 | EDNRA | DRUGGABLE GENOME, G PROTEIN COUPLED RECEPTOR | antagonist | CHEMBL2103873 | MACITENTAN | |