Name | Number of supported studies | Average coverage | |
---|---|---|---|
epithelial cell | 6 studies | 24% ± 8% | |
fibroblast | 4 studies | 17% ± 1% | |
GABAergic neuron | 3 studies | 31% ± 2% | |
glutamatergic neuron | 3 studies | 37% ± 4% | |
astrocyte | 3 studies | 23% ± 5% | |
oligodendrocyte | 3 studies | 17% ± 0% | |
hepatocyte | 3 studies | 31% ± 18% |
Name | Number of supported studies | Average coverage | |
---|---|---|---|
brain | 4 studies | 26% ± 5% |
Tissue | GTEx Coverage | GTEx Average TPM | GTEx Number of samples | TCGA Coverage | TCGA Average TPM | TCGA Number of samples |
---|---|---|---|---|---|---|
esophagus | 100% | 2584.91 | 1445 / 1445 | 100% | 35.85 | 183 / 183 |
stomach | 100% | 2412.39 | 359 / 359 | 100% | 30.45 | 286 / 286 |
prostate | 100% | 1970.73 | 245 / 245 | 100% | 59.82 | 501 / 502 |
brain | 100% | 2142.61 | 2638 / 2642 | 100% | 53.12 | 704 / 705 |
liver | 100% | 6475.30 | 226 / 226 | 100% | 76.82 | 404 / 406 |
breast | 100% | 2567.66 | 459 / 459 | 99% | 51.77 | 1112 / 1118 |
uterus | 100% | 2306.14 | 170 / 170 | 99% | 34.97 | 456 / 459 |
lung | 99% | 1899.22 | 574 / 578 | 100% | 37.46 | 1155 / 1155 |
thymus | 100% | 2263.68 | 653 / 653 | 99% | 36.29 | 600 / 605 |
intestine | 100% | 2594.16 | 965 / 966 | 99% | 34.12 | 523 / 527 |
pancreas | 100% | 1546.53 | 327 / 328 | 99% | 29.32 | 177 / 178 |
ovary | 100% | 3151.24 | 180 / 180 | 99% | 23.26 | 426 / 430 |
adrenal gland | 100% | 3470.46 | 258 / 258 | 99% | 41.20 | 227 / 230 |
bladder | 100% | 2411.00 | 21 / 21 | 99% | 32.41 | 497 / 504 |
kidney | 100% | 2501.72 | 89 / 89 | 99% | 43.47 | 888 / 901 |
skin | 100% | 2526.90 | 1809 / 1809 | 97% | 40.65 | 458 / 472 |
adipose | 100% | 2560.49 | 1204 / 1204 | 0% | 0 | 0 / 0 |
blood vessel | 100% | 2905.36 | 1335 / 1335 | 0% | 0 | 0 / 0 |
lymph node | 0% | 0 | 0 / 0 | 100% | 19.85 | 29 / 29 |
spleen | 100% | 1355.34 | 241 / 241 | 0% | 0 | 0 / 0 |
tonsil | 0% | 0 | 0 / 0 | 100% | 34.46 | 45 / 45 |
muscle | 100% | 2276.50 | 802 / 803 | 0% | 0 | 0 / 0 |
heart | 95% | 2244.71 | 818 / 861 | 0% | 0 | 0 / 0 |
eye | 0% | 0 | 0 / 0 | 86% | 24.38 | 69 / 80 |
peripheral blood | 55% | 754.75 | 515 / 929 | 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_0019678 | Biological process | propionate metabolic process, methylmalonyl pathway |
GO_1901290 | Biological process | succinyl-CoA biosynthetic process |
GO_0009791 | Biological process | post-embryonic development |
GO_0043547 | Biological process | positive regulation of GTPase activity |
GO_0050667 | Biological process | homocysteine metabolic process |
GO_0005759 | Cellular component | mitochondrial matrix |
GO_0005737 | Cellular component | cytoplasm |
GO_0005739 | Cellular component | mitochondrion |
GO_0004494 | Molecular function | methylmalonyl-CoA mutase activity |
GO_0031419 | Molecular function | cobalamin binding |
GO_0042803 | Molecular function | protein homodimerization activity |
GO_0003924 | Molecular function | GTPase activity |
GO_0042802 | Molecular function | identical protein binding |
GO_0005515 | Molecular function | protein binding |
GO_0072341 | Molecular function | modified amino acid binding |
GO_0046872 | Molecular function | metal ion binding |
Gene name | MMUT |
Protein name | Methylmalonyl-CoA mutase, mitochondrial (EC 5.4.99.2) (Methylmalonyl-CoA isomerase) Mutant methylmalonyl CoA mutase Mitochondrial methylmalonyl CoA mutase Mutant methylmalonyl CoA mutase (EC 5.4.99.2) Truncated methylmalonyl CoA mutase Methylmalonyl-CoA mutase, mitochondrial (MCM) (EC 5.4.99.2) (Methylmalonyl-CoA isomerase) Truncated methylmalonyl-CoA mutase variant c.91C>T |
Synonyms | hCG_21698 MUT |
Description | FUNCTION: Catalyzes the reversible isomerization of methylmalonyl-CoA (MMCoA) (generated from branched-chain amino acid metabolism and degradation of dietary odd chain fatty acids and cholesterol) to succinyl-CoA (3-carboxypropionyl-CoA), a key intermediate of the tricarboxylic acid cycle. . FUNCTION: Catalyzes the reversible isomerization of methylmalonyl-CoA (MMCoA) (generated from branched-chain amino acid metabolism and degradation of dietary odd chain fatty acids and cholesterol) to succinyl-CoA (3-carboxypropionyl-CoA), a key intermediate of the tricarboxylic acid cycle. . FUNCTION: Catalyzes the reversible isomerization of methylmalonyl-CoA (MMCoA) (generated from branched-chain amino acid metabolism and degradation of dietary odd chain fatty acids and cholesterol) to succinyl-CoA (3-carboxypropionyl-CoA), a key intermediate of the tricarboxylic acid cycle. . FUNCTION: Catalyzes the reversible isomerization of methylmalonyl-CoA (MMCoA) (generated from branched-chain amino acid metabolism and degradation of dietary odd chain fatty acids and cholesterol) to succinyl-CoA (3-carboxypropionyl-CoA), a key intermediate of the tricarboxylic acid cycle. . FUNCTION: Catalyzes the reversible isomerization of methylmalonyl-CoA (MMCoA) (generated from branched-chain amino acid metabolism and degradation of dietary odd chain fatty acids and cholesterol) to succinyl-CoA (3-carboxypropionyl-CoA), a key intermediate of the tricarboxylic acid cycle. . FUNCTION: Catalyzes the reversible isomerization of methylmalonyl-CoA (MMCoA) (generated from branched-chain amino acid metabolism and degradation of dietary odd chain fatty acids and cholesterol) to succinyl-CoA (3-carboxypropionyl-CoA), a key intermediate of the tricarboxylic acid cycle. . FUNCTION: Catalyzes the reversible isomerization of methylmalonyl-CoA (MMCoA) (generated from branched-chain amino acid metabolism and degradation of dietary odd chain fatty acids and cholesterol) to succinyl-CoA (3-carboxypropionyl-CoA), a key intermediate of the tricarboxylic acid cycle. . FUNCTION: Catalyzes the reversible isomerization of methylmalonyl-CoA (MMCoA) (generated from branched-chain amino acid metabolism and degradation of dietary odd chain fatty acids and cholesterol) to succinyl-CoA (3-carboxypropionyl-CoA), a key intermediate of the tricarboxylic acid cycle. . FUNCTION: Catalyzes the reversible isomerization of methylmalonyl-CoA (MMCoA) (generated from branched-chain amino acid metabolism and degradation of dietary odd chain fatty acids and cholesterol) to succinyl-CoA (3-carboxypropionyl-CoA), a key intermediate of the tricarboxylic acid cycle. . FUNCTION: Catalyzes the reversible isomerization of methylmalonyl-CoA (MMCoA) (generated from branched-chain amino acid metabolism and degradation of dietary odd chain fatty acids and cholesterol) to succinyl-CoA (3-carboxypropionyl-CoA), a key intermediate of the tricarboxylic acid cycle. . FUNCTION: Catalyzes the reversible isomerization of methylmalonyl-CoA (MMCoA) (generated from branched-chain amino acid metabolism and degradation of dietary odd chain fatty acids and cholesterol) to succinyl-CoA (3-carboxypropionyl-CoA), a key intermediate of the tricarboxylic acid cycle. . FUNCTION: Catalyzes the reversible isomerization of methylmalonyl-CoA (MMCoA) (generated from branched-chain amino acid metabolism and degradation of dietary odd chain fatty acids and cholesterol) to succinyl-CoA (3-carboxypropionyl-CoA), a key intermediate of the tricarboxylic acid cycle. . |
Accessions | A0A2S1PH16 A0A2S1PH46 S4UNR5 A0A0G3IFT0 A0A2S1PH20 A0A0B4U8R5 P22033 A0A024RD82 T1WHH0 ENST00000274813.4 A0A0B4U7B0 A0A2S1PH31 A0A0G3IDQ3 A0A0S2Z4X4 A0A0K0PWN6 A0A2S1PH13 S4UM43 A0A2S1PH09 A0A2S1PH08 S4UML3 A0A2S1PH34 A0A2S1PH23 S4UML7 |