Name | Number of supported studies  | Average coverage | |
|---|---|---|---|
| endothelial cell | 4 studies | 21% ± 1% | |
| epithelial cell | 4 studies | 27% ± 8% | |
| fibroblast | 4 studies | 20% ± 3% | |
| dendritic cell | 4 studies | 29% ± 14% | |
| macrophage | 4 studies | 26% ± 5% | |
| classical monocyte | 3 studies | 26% ± 10% | |
| myeloid cell | 3 studies | 19% ± 1% | |
| cardiac muscle cell | 3 studies | 18% ± 2% |
Name | Number of supported studies | Average coverage | |
|---|---|---|---|
| brain | 3 studies | 26% ± 7% |
Tissue | GTEx Coverage | GTEx Average TPM | GTEx Number of samples | TCGA Coverage | TCGA Average TPM | TCGA Number of samples |
|---|---|---|---|---|---|---|
| esophagus | 100% | 2508.32 | 1445 / 1445 | 100% | 10.55 | 183 / 183 |
| prostate | 100% | 2820.66 | 245 / 245 | 100% | 13.44 | 502 / 502 |
| thymus | 100% | 4069.85 | 653 / 653 | 100% | 22.99 | 605 / 605 |
| skin | 99% | 2557.75 | 1799 / 1809 | 100% | 11.27 | 470 / 472 |
| stomach | 100% | 2747.58 | 359 / 359 | 99% | 7.45 | 283 / 286 |
| intestine | 100% | 2929.39 | 966 / 966 | 99% | 6.92 | 521 / 527 |
| lung | 100% | 4320.57 | 578 / 578 | 99% | 8.71 | 1141 / 1155 |
| kidney | 100% | 2977.58 | 89 / 89 | 99% | 10.60 | 889 / 901 |
| breast | 100% | 2644.80 | 459 / 459 | 98% | 9.66 | 1100 / 1118 |
| brain | 98% | 1901.30 | 2596 / 2642 | 100% | 8.68 | 704 / 705 |
| uterus | 100% | 2561.24 | 170 / 170 | 98% | 7.53 | 450 / 459 |
| bladder | 100% | 2610.86 | 21 / 21 | 96% | 5.44 | 484 / 504 |
| ovary | 100% | 4963.72 | 180 / 180 | 96% | 6.83 | 411 / 430 |
| pancreas | 96% | 1500.07 | 315 / 328 | 98% | 7.55 | 175 / 178 |
| adrenal gland | 100% | 2751.47 | 258 / 258 | 93% | 5.95 | 214 / 230 |
| liver | 98% | 1791.30 | 222 / 226 | 87% | 4.29 | 354 / 406 |
| adipose | 100% | 2943.66 | 1204 / 1204 | 0% | 0 | 0 / 0 |
| eye | 0% | 0 | 0 / 0 | 100% | 19.71 | 80 / 80 |
| lymph node | 0% | 0 | 0 / 0 | 100% | 11.35 | 29 / 29 |
| spleen | 100% | 4909.60 | 241 / 241 | 0% | 0 | 0 / 0 |
| ureter | 0% | 0 | 0 / 0 | 100% | 3.24 | 1 / 1 |
| blood vessel | 100% | 2549.26 | 1333 / 1335 | 0% | 0 | 0 / 0 |
| muscle | 100% | 2169.05 | 801 / 803 | 0% | 0 | 0 / 0 |
| heart | 100% | 4170.24 | 857 / 861 | 0% | 0 | 0 / 0 |
| tonsil | 0% | 0 | 0 / 0 | 98% | 7.91 | 44 / 45 |
| peripheral blood | 96% | 1617.76 | 888 / 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 |
| GO_0046500 | Biological process | S-adenosylmethionine metabolic process |
| GO_0043200 | Biological process | response to amino acid |
| GO_0070555 | Biological process | response to interleukin-1 |
| GO_0035999 | Biological process | tetrahydrofolate interconversion |
| GO_0006555 | Biological process | methionine metabolic process |
| GO_0070828 | Biological process | heterochromatin organization |
| GO_0009086 | Biological process | methionine biosynthetic process |
| GO_0001666 | Biological process | response to hypoxia |
| GO_0050667 | Biological process | homocysteine metabolic process |
| GO_0001843 | Biological process | neural tube closure |
| GO_0033274 | Biological process | response to vitamin B2 |
| GO_0009410 | Biological process | response to xenobiotic stimulus |
| GO_0051593 | Biological process | response to folic acid |
| GO_0005829 | Cellular component | cytosol |
| GO_0106313 | Molecular function | methylenetetrahydrofolate reductase (NADPH) activity |
| GO_0050660 | Molecular function | flavin adenine dinucleotide binding |
| GO_0044877 | Molecular function | protein-containing complex binding |
| GO_0071949 | Molecular function | FAD binding |
| GO_0004489 | Molecular function | methylenetetrahydrofolate reductase (NAD(P)H) activity |
| GO_0050661 | Molecular function | NADP binding |
| GO_0072341 | Molecular function | modified amino acid binding |
| Gene name | MTHFR |
| Protein name | Methylenetetrahydrofolate reductase (EC 1.5.1.53) Methylenetetrahydrofolate reductase (NADPH) (EC 1.5.1.53) Methylenetetrahydrofolate reductase Methylenetetrahydrofolate reductase isoform X5 (EC 1.5.1.20) MTHF reductase |
| Synonyms | |
| Description | FUNCTION: Catalyzes the conversion of 5,10-methylenetetrahydrofolate to 5-methyltetrahydrofolate, a cosubstrate for homocysteine remethylation to methionine . Represents a key regulatory connection between the folate and methionine cycles (Probable). . |
| Accessions | Q9NY63 ENST00000641820.1 A0A4P8L6T5 ENST00000641446.1 ENST00000418034.1 ENST00000641747.1 A0A286YF17 A0A1B0GXD9 ENST00000413656.5 F8W9T8 A0A286YF47 A0MPA5 ENST00000376592.6 [P42898-1] A0A482KFZ6 Q5SNW5 ENST00000376585.6 [P42898-2] A0A482KE01 A0A286YFD0 Q5SNW7 L7P8G6 ENST00000376590.9 [P42898-1] ENST00000376486.3 Q4FE54 A0A1C9J7R9 ENST00000641407.1 ENST00000423400.7 ENST00000376583.7 [P42898-2] A0A1W5XGE6 Q9NY62 P42898 |
