Name | Number of supported studies | Average coverage | |
|---|---|---|---|
| epithelial cell of proximal tubule | 8 studies | 43% ± 18% | |
| astrocyte | 8 studies | 27% ± 9% | |
| kidney loop of Henle epithelial cell | 4 studies | 23% ± 4% | |
| epithelial cell | 4 studies | 42% ± 24% | |
| hepatocyte | 4 studies | 45% ± 28% | |
| endothelial cell | 4 studies | 17% ± 1% | |
| fibroblast | 3 studies | 20% ± 2% | |
| Mueller cell | 3 studies | 23% ± 6% | |
| GABAergic neuron | 3 studies | 19% ± 3% | |
| oligodendrocyte precursor cell | 3 studies | 26% ± 5% | |
| goblet cell | 3 studies | 17% ± 1% | |
| oligodendrocyte | 3 studies | 22% ± 4% |
Tissue | GTEx Coverage | GTEx Average TPM | GTEx Number of samples | TCGA Coverage | TCGA Average TPM | TCGA Number of samples |
|---|---|---|---|---|---|---|
| brain | 100% | 8983.17 | 2641 / 2642 | 100% | 67.66 | 704 / 705 |
| prostate | 97% | 2733.82 | 238 / 245 | 100% | 64.67 | 502 / 502 |
| liver | 100% | 15033.73 | 226 / 226 | 95% | 68.59 | 385 / 406 |
| breast | 99% | 2804.49 | 454 / 459 | 93% | 24.45 | 1038 / 1118 |
| ovary | 100% | 3861.18 | 180 / 180 | 91% | 16.13 | 390 / 430 |
| kidney | 100% | 15157.42 | 89 / 89 | 90% | 32.00 | 811 / 901 |
| thymus | 97% | 2091.15 | 632 / 653 | 93% | 17.87 | 561 / 605 |
| stomach | 100% | 3389.28 | 358 / 359 | 80% | 11.54 | 229 / 286 |
| intestine | 95% | 2057.73 | 921 / 966 | 79% | 11.10 | 415 / 527 |
| uterus | 99% | 2139.48 | 168 / 170 | 69% | 9.77 | 317 / 459 |
| esophagus | 92% | 2198.56 | 1328 / 1445 | 76% | 11.80 | 139 / 183 |
| pancreas | 90% | 1518.31 | 295 / 328 | 78% | 8.50 | 138 / 178 |
| skin | 87% | 1564.01 | 1582 / 1809 | 80% | 13.04 | 377 / 472 |
| adrenal gland | 93% | 2536.40 | 240 / 258 | 72% | 10.85 | 166 / 230 |
| bladder | 95% | 2467.05 | 20 / 21 | 64% | 8.68 | 323 / 504 |
| lung | 74% | 1552.56 | 430 / 578 | 82% | 13.77 | 946 / 1155 |
| adipose | 98% | 3111.59 | 1185 / 1204 | 0% | 0 | 0 / 0 |
| blood vessel | 95% | 2421.54 | 1274 / 1335 | 0% | 0 | 0 / 0 |
| muscle | 95% | 2426.76 | 765 / 803 | 0% | 0 | 0 / 0 |
| eye | 0% | 0 | 0 / 0 | 94% | 17.89 | 75 / 80 |
| heart | 86% | 2457.50 | 740 / 861 | 0% | 0 | 0 / 0 |
| tonsil | 0% | 0 | 0 / 0 | 64% | 9.23 | 29 / 45 |
| lymph node | 0% | 0 | 0 / 0 | 38% | 3.39 | 11 / 29 |
| spleen | 29% | 314.25 | 69 / 241 | 0% | 0 | 0 / 0 |
| peripheral blood | 19% | 332.15 | 180 / 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_0006573 | Biological process | valine metabolic process |
| GO_0050873 | Biological process | brown fat cell differentiation |
| GO_0006574 | Biological process | valine catabolic process |
| GO_0006210 | Biological process | thymine catabolic process |
| GO_0009083 | Biological process | branched-chain amino acid catabolic process |
| GO_0019859 | Biological process | thymine metabolic process |
| GO_0005739 | Cellular component | mitochondrion |
| GO_0005654 | Cellular component | nucleoplasm |
| GO_0005759 | Cellular component | mitochondrial matrix |
| GO_0018478 | Molecular function | malonate-semialdehyde dehydrogenase (acetylating) activity |
| GO_0004491 | Molecular function | methylmalonate-semialdehyde dehydrogenase (acylating, NAD) activity |
| GO_0003723 | Molecular function | RNA binding |
| Gene name | ALDH6A1 |
| Protein name | methylmalonate-semialdehyde dehydrogenase (CoA acylating) (EC 1.2.1.27) Methylmalonate-semialdehyde/malonate-semialdehyde dehydrogenase [acylating], mitochondrial (MMSDH) (EC 1.2.1.27) (Aldehyde dehydrogenase family 6 member A1) (Malonate-semialdehyde dehydrogenase [acylating]) |
| Synonyms | MMSDH |
| Description | FUNCTION: Malonate and methylmalonate semialdehyde dehydrogenase involved in the catabolism of valine, thymine, and compounds catabolized by way of beta-alanine, including uracil and cytidine. . |
| Accessions | G3V4Z4 ENST00000553458.6 [Q02252-1] ENST00000555126.1 Q02252 ENST00000350259.8 [Q02252-2] |