GO ID | Tissue | Disease Stage | Description | Gene Ratio | Bg Ratio | pvalue | p.adjust | Count |
GO:004603422 | Liver | HCC | ATP metabolic process | 198/7958 | 277/18723 | 8.30e-23 | 1.55e-20 | 198 |
GO:004854522 | Liver | HCC | response to steroid hormone | 206/7958 | 339/18723 | 6.81e-12 | 2.92e-10 | 206 |
GO:007149622 | Liver | HCC | cellular response to external stimulus | 191/7958 | 320/18723 | 3.40e-10 | 1.13e-08 | 191 |
GO:007138322 | Liver | HCC | cellular response to steroid hormone stimulus | 128/7958 | 204/18723 | 3.92e-09 | 1.04e-07 | 128 |
GO:003297022 | Liver | HCC | regulation of actin filament-based process | 222/7958 | 397/18723 | 3.81e-08 | 8.30e-07 | 222 |
GO:001631121 | Liver | HCC | dephosphorylation | 230/7958 | 417/18723 | 1.00e-07 | 1.96e-06 | 230 |
GO:005123521 | Liver | HCC | maintenance of location | 185/7958 | 327/18723 | 1.70e-07 | 3.12e-06 | 185 |
GO:007121421 | Liver | HCC | cellular response to abiotic stimulus | 183/7958 | 331/18723 | 1.59e-06 | 2.26e-05 | 183 |
GO:010400421 | Liver | HCC | cellular response to environmental stimulus | 183/7958 | 331/18723 | 1.59e-06 | 2.26e-05 | 183 |
GO:005165112 | Liver | HCC | maintenance of location in cell | 119/7958 | 214/18723 | 7.11e-05 | 6.39e-04 | 119 |
GO:19026007 | Liver | HCC | proton transmembrane transport | 87/7958 | 157/18723 | 7.27e-04 | 4.42e-03 | 87 |
GO:00712601 | Liver | HCC | cellular response to mechanical stimulus | 48/7958 | 81/18723 | 1.72e-03 | 8.96e-03 | 48 |
GO:00096124 | Liver | HCC | response to mechanical stimulus | 113/7958 | 216/18723 | 2.20e-03 | 1.10e-02 | 113 |
GO:00093146 | Liver | HCC | response to radiation | 223/7958 | 456/18723 | 3.08e-03 | 1.43e-02 | 223 |
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:00551191 | Liver | HCC | relaxation of cardiac muscle | 13/7958 | 17/18723 | 4.77e-03 | 2.02e-02 | 13 |
GO:00860642 | Liver | HCC | cell communication by electrical coupling involved in cardiac conduction | 17/7958 | 25/18723 | 8.94e-03 | 3.45e-02 | 17 |
GO:0010882 | Liver | HCC | regulation of cardiac muscle contraction by calcium ion signaling | 18/7958 | 27/18723 | 9.75e-03 | 3.66e-02 | 18 |
GO:0010881 | Liver | HCC | regulation of cardiac muscle contraction by regulation of the release of sequestered calcium ion | 15/7958 | 22/18723 | 1.35e-02 | 4.80e-02 | 15 |
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 |
ATP1A2 | SNV | Missense_Mutation | | c.144G>T | p.Glu48Asp | p.E48D | P50993 | protein_coding | tolerated(0.16) | benign(0.029) | TCGA-A2-A25A-01 | Breast | breast invasive carcinoma | Female | <65 | I/II | Unspecific | Cytoxan | SD |
ATP1A2 | SNV | Missense_Mutation | rs755353911 | c.1529N>A | p.Arg510His | p.R510H | P50993 | protein_coding | deleterious(0.01) | probably_damaging(1) | TCGA-A8-A09I-01 | Breast | breast invasive carcinoma | Female | >=65 | I/II | Hormone Therapy | anastrozole | SD |
ATP1A2 | SNV | Missense_Mutation | | c.2996N>T | p.Asp999Val | p.D999V | P50993 | protein_coding | deleterious(0) | probably_damaging(0.999) | TCGA-A8-A09Z-01 | Breast | breast invasive carcinoma | Female | >=65 | I/II | Unknown | Unknown | SD |
ATP1A2 | SNV | Missense_Mutation | | c.1079N>G | p.Glu360Gly | p.E360G | P50993 | protein_coding | deleterious(0.01) | probably_damaging(1) | TCGA-AQ-A04J-01 | Breast | breast invasive carcinoma | Female | <65 | I/II | Chemotherapy | cytoxan | SD |
ATP1A2 | SNV | Missense_Mutation | novel | c.1055A>G | p.Lys352Arg | p.K352R | P50993 | protein_coding | deleterious(0.03) | probably_damaging(0.999) | TCGA-AR-A1AM-01 | Breast | breast invasive carcinoma | Female | <65 | III/IV | Chemotherapy | adriamycin | SD |
ATP1A2 | SNV | Missense_Mutation | | c.250A>G | p.Thr84Ala | p.T84A | P50993 | protein_coding | deleterious(0.01) | possibly_damaging(0.577) | TCGA-BH-A18G-01 | Breast | breast invasive carcinoma | Female | >=65 | I/II | Unknown | Unknown | SD |
ATP1A2 | SNV | Missense_Mutation | rs768136835 | c.713N>A | p.Arg238His | p.R238H | P50993 | protein_coding | deleterious(0) | benign(0.071) | TCGA-E2-A14U-01 | Breast | breast invasive carcinoma | Female | >=65 | I/II | Hormone Therapy | arimidex | SD |
ATP1A2 | insertion | Frame_Shift_Ins | novel | c.2921_2922insATCTATAATGAAACCACCACCAGGAACTGTGGGAGATGCTGAGA | p.Leu975SerfsTer102 | p.L975Sfs*102 | P50993 | protein_coding | | | TCGA-A8-A06Q-01 | Breast | breast invasive carcinoma | Female | <65 | III/IV | Unknown | Unknown | SD |
ATP1A2 | insertion | Nonsense_Mutation | novel | c.964_965insACTGAGACT | p.Leu322delinsHisTerAspPhe | p.L322delinsH*DF | P50993 | protein_coding | | | TCGA-A8-A090-01 | Breast | breast invasive carcinoma | Female | >=65 | I/II | Unknown | Unknown | SD |
ATP1A2 | insertion | In_Frame_Ins | novel | c.1799_1800insTTCCCAAGCCTCTGCGGCATCCCTGGGGTG | p.Val600_Gly601insSerGlnAlaSerAlaAlaSerLeuGlyTrp | p.V600_G601insSQASAASLGW | P50993 | protein_coding | | | TCGA-BH-A0B8-01 | Breast | breast invasive carcinoma | Female | <65 | I/II | Hormone Therapy | arimidex | SD |
Entrez ID | Symbol | Category | Interaction Types | Drug Claim Name | Drug Name | PMIDs |
477 | ATP1A2 | ENZYME, TRANSPORTER, ION CHANNEL, DRUGGABLE GENOME | | olanzapine | OLANZAPINE | |
477 | ATP1A2 | ENZYME, TRANSPORTER, ION CHANNEL, DRUGGABLE GENOME | inhibitor | CHEMBL3545057 | ACETYLDIGITOXIN | |
477 | ATP1A2 | ENZYME, TRANSPORTER, ION CHANNEL, DRUGGABLE GENOME | inhibitor | CHEMBL254219 | DIGITOXIN | |
477 | ATP1A2 | ENZYME, TRANSPORTER, ION CHANNEL, DRUGGABLE GENOME | inhibitor | CHEMBL1751 | DIGOXIN | |
477 | ATP1A2 | ENZYME, TRANSPORTER, ION CHANNEL, DRUGGABLE GENOME | inhibitor | CHEMBL1614 | DESLANOSIDE | |