GO ID | Tissue | Disease Stage | Description | Gene Ratio | Bg Ratio | pvalue | p.adjust | Count |
GO:007259422 | Liver | HCC | establishment of protein localization to organelle | 299/7958 | 422/18723 | 1.06e-32 | 6.10e-30 | 299 |
GO:003297022 | Liver | HCC | regulation of actin filament-based process | 222/7958 | 397/18723 | 3.81e-08 | 8.30e-07 | 222 |
GO:007097212 | Liver | HCC | protein localization to endoplasmic reticulum | 54/7958 | 74/18723 | 1.01e-07 | 1.98e-06 | 54 |
GO:001003822 | Liver | HCC | response to metal ion | 208/7958 | 373/18723 | 1.35e-07 | 2.56e-06 | 208 |
GO:005123521 | Liver | HCC | maintenance of location | 185/7958 | 327/18723 | 1.70e-07 | 3.12e-06 | 185 |
GO:000166612 | Liver | HCC | response to hypoxia | 172/7958 | 307/18723 | 1.06e-06 | 1.59e-05 | 172 |
GO:003629312 | Liver | HCC | response to decreased oxygen levels | 179/7958 | 322/18723 | 1.29e-06 | 1.87e-05 | 179 |
GO:007048212 | Liver | HCC | response to oxygen levels | 191/7958 | 347/18723 | 1.42e-06 | 2.03e-05 | 191 |
GO:007259911 | Liver | HCC | establishment of protein localization to endoplasmic reticulum | 34/7958 | 46/18723 | 1.53e-05 | 1.67e-04 | 34 |
GO:005165112 | Liver | HCC | maintenance of location in cell | 119/7958 | 214/18723 | 7.11e-05 | 6.39e-04 | 119 |
GO:001407421 | Liver | HCC | response to purine-containing compound | 84/7958 | 148/18723 | 3.19e-04 | 2.26e-03 | 84 |
GO:00096124 | Liver | HCC | response to mechanical stimulus | 113/7958 | 216/18723 | 2.20e-03 | 1.10e-02 | 113 |
GO:005159221 | Liver | HCC | response to calcium ion | 81/7958 | 149/18723 | 2.26e-03 | 1.13e-02 | 81 |
GO:00359942 | Liver | HCC | response to muscle stretch | 17/7958 | 23/18723 | 2.28e-03 | 1.13e-02 | 17 |
GO:00148231 | Liver | HCC | response to activity | 45/7958 | 76/18723 | 2.42e-03 | 1.18e-02 | 45 |
GO:0051775 | Liver | HCC | response to redox state | 12/7958 | 15/18723 | 3.56e-03 | 1.59e-02 | 12 |
GO:009891111 | Liver | HCC | regulation of ventricular cardiac muscle cell action potential | 10/7958 | 12/18723 | 4.79e-03 | 2.02e-02 | 10 |
GO:00432791 | Liver | HCC | response to alkaloid | 62/7958 | 115/18723 | 8.79e-03 | 3.42e-02 | 62 |
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 |
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 |
RYR2 | SNV | Missense_Mutation | novel | c.1945N>T | p.Val649Leu | p.V649L | Q92736 | protein_coding | tolerated(0.06) | benign(0.153) | TCGA-D8-A1JB-01 | Breast | breast invasive carcinoma | Female | <65 | I/II | Chemotherapy | adriamycin | SD |
RYR2 | SNV | Missense_Mutation | rs772148152 | c.3425C>A | p.Ala1142Asp | p.A1142D | Q92736 | protein_coding | deleterious(0) | benign(0.39) | TCGA-D8-A1JG-01 | Breast | breast invasive carcinoma | Female | <65 | I/II | Chemotherapy | doxorubicin | SD |
RYR2 | SNV | Missense_Mutation | rs876657988 | c.2786N>A | p.Arg929His | p.R929H | Q92736 | protein_coding | deleterious(0) | benign(0.056) | TCGA-D8-A1XJ-01 | Breast | breast invasive carcinoma | Female | >=65 | III/IV | Hormone Therapy | tamoxiphen | SD |
RYR2 | SNV | Missense_Mutation | | c.679N>C | p.Tyr227His | p.Y227H | Q92736 | protein_coding | deleterious(0.04) | possibly_damaging(0.574) | TCGA-D8-A1XK-01 | Breast | breast invasive carcinoma | Female | <65 | I/II | Chemotherapy | doxorubicine+cyclophosphamide | SD |
RYR2 | SNV | Missense_Mutation | | c.5858N>C | p.Met1953Thr | p.M1953T | Q92736 | protein_coding | deleterious(0) | probably_damaging(0.98) | TCGA-D8-A1XK-01 | Breast | breast invasive carcinoma | Female | <65 | I/II | Chemotherapy | doxorubicine+cyclophosphamide | SD |
RYR2 | SNV | Missense_Mutation | rs397516552 | c.998N>T | p.Ser333Phe | p.S333F | Q92736 | protein_coding | tolerated(0.2) | probably_damaging(0.942) | TCGA-D8-A27G-01 | Breast | breast invasive carcinoma | Female | >=65 | I/II | Unknown | Unknown | SD |
RYR2 | SNV | Missense_Mutation | rs772148152 | c.3425N>A | p.Ala1142Asp | p.A1142D | Q92736 | protein_coding | deleterious(0) | benign(0.39) | TCGA-D8-A27G-01 | Breast | breast invasive carcinoma | Female | >=65 | I/II | Unknown | Unknown | SD |
RYR2 | SNV | Missense_Mutation | | c.14398N>A | p.Asp4800Asn | p.D4800N | Q92736 | protein_coding | deleterious(0.03) | possibly_damaging(0.463) | TCGA-D8-A27G-01 | Breast | breast invasive carcinoma | Female | >=65 | I/II | Unknown | Unknown | SD |
RYR2 | SNV | Missense_Mutation | | c.14773N>G | p.Leu4925Val | p.L4925V | Q92736 | protein_coding | deleterious(0) | probably_damaging(0.952) | TCGA-D8-A27G-01 | Breast | breast invasive carcinoma | Female | >=65 | I/II | Unknown | Unknown | SD |
RYR2 | SNV | Missense_Mutation | | c.5391N>T | p.Glu1797Asp | p.E1797D | Q92736 | protein_coding | tolerated(0.1) | possibly_damaging(0.813) | TCGA-D8-A27I-01 | Breast | breast invasive carcinoma | Female | <65 | III/IV | Chemotherapy | adrimycin+cyclophosphamide | SD |
Entrez ID | Symbol | Category | Interaction Types | Drug Claim Name | Drug Name | PMIDs |
6262 | RYR2 | B30_2 SPRY DOMAIN, DRUGGABLE GENOME, ION CHANNEL | | Dantrolene | DANTROLENE | |
6262 | RYR2 | B30_2 SPRY DOMAIN, DRUGGABLE GENOME, ION CHANNEL | activator | 135651219 | SURAMIN | |
6262 | RYR2 | B30_2 SPRY DOMAIN, DRUGGABLE GENOME, ION CHANNEL | | simvastatin | SIMVASTATIN | 27839692,25753936 |
6262 | RYR2 | B30_2 SPRY DOMAIN, DRUGGABLE GENOME, ION CHANNEL | | cerivastatin | CERIVASTATIN | 21386754 |
6262 | RYR2 | B30_2 SPRY DOMAIN, DRUGGABLE GENOME, ION CHANNEL | blocker | 178101108 | PROCAINE | |
6262 | RYR2 | B30_2 SPRY DOMAIN, DRUGGABLE GENOME, ION CHANNEL | activator | 135651446 | ADENOSINE TRIPHOSPHATE | |
6262 | RYR2 | B30_2 SPRY DOMAIN, DRUGGABLE GENOME, ION CHANNEL | inhibitor | 381118871 | | |
6262 | RYR2 | B30_2 SPRY DOMAIN, DRUGGABLE GENOME, ION CHANNEL | antagonist,activator | 135652731 | | |
6262 | RYR2 | B30_2 SPRY DOMAIN, DRUGGABLE GENOME, ION CHANNEL | inhibitor | 135650057 | CARVEDILOL | |
6262 | RYR2 | B30_2 SPRY DOMAIN, DRUGGABLE GENOME, ION CHANNEL | blocker,activator | 178101120 | RYANODINE | |