Name | Number of supported studies  | Average coverage | |
|---|---|---|---|
| microglial cell | 11 studies | 46% ± 14% | |
| macrophage | 8 studies | 31% ± 14% | |
| astrocyte | 5 studies | 38% ± 12% | |
| myeloid cell | 3 studies | 22% ± 6% | |
| GABAergic neuron | 3 studies | 37% ± 9% | |
| glutamatergic neuron | 3 studies | 35% ± 9% | |
| interneuron | 3 studies | 35% ± 17% |
Name | Number of supported studies | Average coverage | |
|---|---|---|---|
| brain | 4 studies | 26% ± 6% |
Tissue | GTEx Coverage | GTEx Average TPM | GTEx Number of samples | TCGA Coverage | TCGA Average TPM | TCGA Number of samples |
|---|---|---|---|---|---|---|
| brain | 99% | 3773.28 | 2626 / 2642 | 86% | 8.76 | 605 / 705 |
| skin | 69% | 941.74 | 1252 / 1809 | 38% | 2.79 | 181 / 472 |
| eye | 0% | 0 | 0 / 0 | 100% | 11.78 | 80 / 80 |
| muscle | 100% | 221704.00 | 803 / 803 | 0% | 0 | 0 / 0 |
| esophagus | 51% | 521.72 | 738 / 1445 | 49% | 3.97 | 89 / 183 |
| tonsil | 0% | 0 | 0 / 0 | 98% | 12.47 | 44 / 45 |
| thymus | 14% | 122.43 | 90 / 653 | 79% | 7.29 | 475 / 605 |
| lung | 29% | 189.01 | 170 / 578 | 54% | 4.28 | 629 / 1155 |
| ovary | 9% | 52.56 | 17 / 180 | 73% | 5.59 | 312 / 430 |
| uterus | 5% | 23.51 | 8 / 170 | 66% | 12.71 | 304 / 459 |
| breast | 46% | 407.01 | 212 / 459 | 20% | 1.32 | 220 / 1118 |
| adrenal gland | 30% | 182.85 | 78 / 258 | 28% | 1.62 | 65 / 230 |
| lymph node | 0% | 0 | 0 / 0 | 38% | 2.57 | 11 / 29 |
| adipose | 38% | 259.93 | 452 / 1204 | 0% | 0 | 0 / 0 |
| intestine | 30% | 177.01 | 292 / 966 | 4% | 0.15 | 19 / 527 |
| prostate | 24% | 548.88 | 60 / 245 | 6% | 0.77 | 32 / 502 |
| bladder | 10% | 40.19 | 2 / 21 | 18% | 1.41 | 90 / 504 |
| kidney | 10% | 51.39 | 9 / 89 | 11% | 0.42 | 96 / 901 |
| stomach | 6% | 37.95 | 23 / 359 | 5% | 0.25 | 15 / 286 |
| pancreas | 0% | 1.92 | 1 / 328 | 11% | 0.65 | 19 / 178 |
| blood vessel | 11% | 152.18 | 141 / 1335 | 0% | 0 | 0 / 0 |
| spleen | 10% | 58.17 | 23 / 241 | 0% | 0 | 0 / 0 |
| peripheral blood | 5% | 69.02 | 43 / 929 | 0% | 0 | 0 / 0 |
| liver | 1% | 6.84 | 2 / 226 | 3% | 0.18 | 12 / 406 |
| heart | 2% | 13.70 | 21 / 861 | 0% | 0 | 0 / 0 |
| abdomen | 0% | 0 | 0 / 0 | 0% | 0 | 0 / 0 |
| bone marrow | 0% | 0 | 0 / 0 | 0% | 0 | 0 / 0 |
| diaphragm | 0% | 0 | 0 / 0 | 0% | 0 | 0 / 0 |
| gingiva | 0% | 0 | 0 / 0 | 0% | 0 | 0 / 0 |
| nasal cavity | 0% | 0 | 0 / 0 | 0% | 0 | 0 / 0 |
| nasopharynx | 0% | 0 | 0 / 0 | 0% | 0 | 0 / 0 |
| nose | 0% | 0 | 0 / 0 | 0% | 0 | 0 / 0 |
| placenta | 0% | 0 | 0 / 0 | 0% | 0 | 0 / 0 |
| spinal column | 0% | 0 | 0 / 0 | 0% | 0 | 0 / 0 |
| ureter | 0% | 0 | 0 / 0 | 0% | 0 | 0 / 1 |
| GO_0051480 | Biological process | regulation of cytosolic calcium ion concentration |
| GO_0006941 | Biological process | striated muscle contraction |
| GO_0003151 | Biological process | outflow tract morphogenesis |
| GO_0019722 | Biological process | calcium-mediated signaling |
| GO_0048741 | Biological process | skeletal muscle fiber development |
| GO_0006936 | Biological process | muscle contraction |
| GO_0051209 | Biological process | release of sequestered calcium ion into cytosol |
| GO_0071277 | Biological process | cellular response to calcium ion |
| GO_0001666 | Biological process | response to hypoxia |
| GO_0071313 | Biological process | cellular response to caffeine |
| GO_0014808 | Biological process | release of sequestered calcium ion into cytosol by sarcoplasmic reticulum |
| GO_0043588 | Biological process | skin development |
| GO_0031000 | Biological process | response to caffeine |
| GO_0043931 | Biological process | ossification involved in bone maturation |
| GO_0006816 | Biological process | calcium ion transport |
| GO_0051289 | Biological process | protein homotetramerization |
| GO_0005886 | Cellular component | plasma membrane |
| GO_0030018 | Cellular component | Z disc |
| GO_0005790 | Cellular component | smooth endoplasmic reticulum |
| GO_0014802 | Cellular component | terminal cisterna |
| GO_0042383 | Cellular component | sarcolemma |
| GO_0070062 | Cellular component | extracellular exosome |
| GO_1990425 | Cellular component | ryanodine receptor complex |
| GO_0014701 | Cellular component | junctional sarcoplasmic reticulum membrane |
| GO_0031674 | Cellular component | I band |
| GO_0005938 | Cellular component | cell cortex |
| GO_0034704 | Cellular component | calcium channel complex |
| GO_0016529 | Cellular component | sarcoplasmic reticulum |
| GO_0005737 | Cellular component | cytoplasm |
| GO_0033017 | Cellular component | sarcoplasmic reticulum membrane |
| GO_0031090 | Cellular component | organelle membrane |
| GO_0048763 | Molecular function | calcium-induced calcium release activity |
| GO_0005245 | Molecular function | voltage-gated calcium channel activity |
| GO_0005524 | Molecular function | ATP binding |
| GO_0005219 | Molecular function | ryanodine-sensitive calcium-release channel activity |
| GO_0015278 | Molecular function | intracellularly gated calcium channel activity |
| GO_0005516 | Molecular function | calmodulin binding |
| GO_0005509 | Molecular function | calcium ion binding |
| GO_0005262 | Molecular function | calcium channel activity |
| Gene name | RYR1 |
| Protein name | Ryanodine receptor 1 (Skeletal muscle calcium release channel) (Skeletal muscle ryanodine receptor) (Skeletal muscle-type ryanodine receptor) (Type 1 ryanodine receptor) Alternative protein RYR1 Ryanodine receptor 1 (RYR-1) (RyR1) (Skeletal muscle calcium release channel) (Skeletal muscle ryanodine receptor) (Skeletal muscle-type ryanodine receptor) (Type 1 ryanodine receptor) Ryanodine receptor 1 Ryanodine receptor type1 |
| Synonyms | RYDR |
| Description | FUNCTION: Cytosolic calcium-activated calcium channel that mediates the release of Ca(2+) from the sarcoplasmic reticulum into the cytosol and thereby plays a key role in triggering muscle contraction following depolarization of T-tubules . Repeated very high-level exercise increases the open probability of the channel and leads to Ca(2+) leaking into the cytoplasm . Can also mediate the release of Ca(2+) from intracellular stores in neurons, and may thereby promote prolonged Ca(2+) signaling in the brain. Required for normal embryonic development of muscle fibers and skeletal muscle. Required for normal heart morphogenesis, skin development and ossification during embryogenesis (By similarity). . |
| Accessions | ENST00000593677.2 Q8WYM7 Q8WYM8 ENST00000599547.6 ENST00000359596.8 [P21817-1] M0R014 M0R1U6 G9I593 ENST00000594335.5 P21817 ENST00000688602.1 M0R127 A0A8I5KSR1 ENST00000593322.1 A0A8I5KUY6 ENST00000355481.8 [P21817-2] ENST00000689936.1 M0R0S0 L8E9F3 |
