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Gene: RYR2 |
Gene summary for RYR2 |
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Gene information | Species | Human | Gene symbol | RYR2 | Gene ID | 6262 |
Gene name | ryanodine receptor 2 | |
Gene Alias | ARVC2 | |
Cytomap | 1q43 | |
Gene Type | protein-coding | GO ID | GO:0001508 | UniProtAcc | Q92736 |
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Malignant transformation analysis |
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Entrez ID | Symbol | Replicates | Species | Organ | Tissue | Adj P-value | Log2FC | Malignancy |
6262 | RYR2 | HCC1_Meng | Human | Liver | HCC | 2.31e-06 | 3.05e-02 | 0.0246 |
6262 | RYR2 | S014 | Human | Liver | HCC | 2.70e-03 | 1.54e-01 | 0.2254 |
6262 | RYR2 | S016 | Human | Liver | HCC | 4.70e-07 | 2.03e-01 | 0.2243 |
6262 | RYR2 | S027 | Human | Liver | HCC | 2.91e-17 | 7.90e-01 | 0.2446 |
6262 | RYR2 | S028 | Human | Liver | HCC | 5.55e-24 | 6.96e-01 | 0.2503 |
6262 | RYR2 | S029 | Human | Liver | HCC | 1.35e-19 | 6.23e-01 | 0.2581 |
6262 | RYR2 | HTA12-15-2 | Human | Pancreas | PDAC | 3.80e-04 | 4.88e-01 | 0.2315 |
6262 | RYR2 | HTA12-23-1 | Human | Pancreas | PDAC | 1.91e-07 | 7.40e-01 | 0.3405 |
6262 | RYR2 | HTA12-26-1 | Human | Pancreas | PDAC | 3.95e-14 | 8.04e-01 | 0.3728 |
6262 | RYR2 | HTA12-29-1 | Human | Pancreas | PDAC | 9.86e-32 | 8.29e-01 | 0.3722 |
6262 | RYR2 | ATC13 | Human | Thyroid | ATC | 9.16e-09 | 1.11e-01 | 0.34 |
6262 | RYR2 | ATC5 | Human | Thyroid | ATC | 2.23e-07 | 1.36e-01 | 0.34 |
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∗log2FC in expression of this searched gene in stem-like cells from each diseased tissue sample relative to stem-like cells in normal samples in each tissue plotted against the malignancy continuum. Samples are colored based on if they are from different disease stage. |
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Malignant transformation related pathway analysis |
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Tissue | Disease Stage | Enriched GO biological Processes |
Colorectum | AD | ![]() |
Colorectum | SER | ![]() |
Colorectum | MSS | ![]() |
Colorectum | MSI-H | ![]() |
Colorectum | FAP | ![]() |
∗Top 15 enriched GO BP terms are showed in the bar plot of each disease state in each tissue. Each row represents a significant GO biological process which is colored according to the -log10(p.adjust). |
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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 |
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Pathway ID | Tissue | Disease Stage | Description | Gene Ratio | Bg Ratio | pvalue | p.adjust | qvalue | Count |
hsa0502022 | Liver | HCC | Prion disease | 195/4020 | 273/8465 | 3.26e-16 | 1.56e-14 | 8.67e-15 | 195 |
hsa0541522 | Liver | HCC | Diabetic cardiomyopathy | 151/4020 | 203/8465 | 2.72e-15 | 1.01e-13 | 5.63e-14 | 151 |
hsa0502222 | Liver | HCC | Pathways of neurodegeneration - multiple diseases | 298/4020 | 476/8465 | 6.59e-12 | 1.30e-10 | 7.22e-11 | 298 |
hsa0502032 | Liver | HCC | Prion disease | 195/4020 | 273/8465 | 3.26e-16 | 1.56e-14 | 8.67e-15 | 195 |
hsa0541532 | Liver | HCC | Diabetic cardiomyopathy | 151/4020 | 203/8465 | 2.72e-15 | 1.01e-13 | 5.63e-14 | 151 |
hsa0502232 | Liver | HCC | Pathways of neurodegeneration - multiple diseases | 298/4020 | 476/8465 | 6.59e-12 | 1.30e-10 | 7.22e-11 | 298 |
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Cell-cell communication analysis |
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Ligand | Receptor | LRpair | Pathway | Tissue | Disease Stage |
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Single-cell gene regulatory network inference analysis |
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TF | Cell Type | Tissue | Disease Stage | Target Gene | RSS | Regulon Activity |
∗The dot plots of a searched regulon are shown for all cell subpopulations in each disease state of each tissue based on the regulon specific score inferred using pySCENIC and by calculating the average expression. |
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Somatic mutation of malignant transformation related genes |
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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 | c.7187T>G | p.Ile2396Ser | p.I2396S | Q92736 | protein_coding | deleterious(0) | probably_damaging(0.986) | TCGA-CG-4444-01 | Stomach | stomach adenocarcinoma | Male | >=65 | III/IV | Chemotherapy | 5-fluorouracil | CR | |
RYR2 | SNV | Missense_Mutation | c.4793N>A | p.Arg1598Lys | p.R1598K | Q92736 | protein_coding | deleterious(0) | possibly_damaging(0.757) | TCGA-CG-4449-01 | Stomach | stomach adenocarcinoma | Male | >=65 | I/II | Unknown | Unknown | PD | |
RYR2 | SNV | Missense_Mutation | c.1357A>C | p.Ser453Arg | p.S453R | Q92736 | protein_coding | tolerated(0.48) | possibly_damaging(0.877) | TCGA-CG-4469-01 | Stomach | stomach adenocarcinoma | Male | >=65 | III/IV | Chemotherapy | cisplatin | SD | |
RYR2 | SNV | Missense_Mutation | rs370276573 | c.6614G>A | p.Arg2205His | p.R2205H | Q92736 | protein_coding | deleterious(0) | probably_damaging(1) | TCGA-CG-5719-01 | Stomach | stomach adenocarcinoma | Female | <65 | III/IV | Unknown | Unknown | SD |
RYR2 | SNV | Missense_Mutation | c.8819N>A | p.Ile2940Asn | p.I2940N | Q92736 | protein_coding | deleterious(0) | possibly_damaging(0.828) | TCGA-CG-5721-01 | Stomach | stomach adenocarcinoma | Male | <65 | III/IV | Unknown | Unknown | SD | |
RYR2 | SNV | Missense_Mutation | c.3709N>C | p.Glu1237Gln | p.E1237Q | Q92736 | protein_coding | tolerated(0.17) | benign(0.015) | TCGA-D7-5578-01 | Stomach | stomach adenocarcinoma | Male | >=65 | III/IV | Unknown | Unknown | SD | |
RYR2 | SNV | Missense_Mutation | c.4916N>C | p.Val1639Ala | p.V1639A | Q92736 | protein_coding | deleterious(0) | benign(0.034) | TCGA-D7-5578-01 | Stomach | stomach adenocarcinoma | Male | >=65 | III/IV | Unknown | Unknown | SD | |
RYR2 | SNV | Missense_Mutation | c.857G>T | p.Gly286Val | p.G286V | Q92736 | protein_coding | deleterious(0) | probably_damaging(0.939) | TCGA-D7-6520-01 | Stomach | stomach adenocarcinoma | Male | <65 | III/IV | Chemotherapy | epirubicin | SD | |
RYR2 | SNV | Missense_Mutation | c.7625C>T | p.Ala2542Val | p.A2542V | Q92736 | protein_coding | tolerated(0.05) | possibly_damaging(0.718) | TCGA-D7-6528-01 | Stomach | stomach adenocarcinoma | Female | >=65 | I/II | Unknown | Unknown | SD | |
RYR2 | SNV | Missense_Mutation | c.2480N>C | p.Leu827Pro | p.L827P | Q92736 | protein_coding | deleterious(0) | probably_damaging(0.998) | TCGA-D7-6822-01 | Stomach | stomach adenocarcinoma | Male | >=65 | I/II | Unknown | Unknown | SD |
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Related drugs of malignant transformation related genes |
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(DGIdb 4.0) |
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 |
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