Name | Number of supported studies | Average coverage | |
|---|---|---|---|
| macrophage | 13 studies | 39% ± 22% | |
| oligodendrocyte | 12 studies | 30% ± 13% | |
| alveolar macrophage | 8 studies | 60% ± 13% | |
| fibroblast | 8 studies | 23% ± 6% | |
| endothelial cell | 6 studies | 19% ± 3% | |
| myeloid cell | 6 studies | 37% ± 18% | |
| enterocyte | 5 studies | 20% ± 5% | |
| classical monocyte | 5 studies | 23% ± 6% | |
| hepatocyte | 5 studies | 47% ± 13% | |
| astrocyte | 5 studies | 29% ± 11% | |
| epithelial cell | 4 studies | 31% ± 12% | |
| oligodendrocyte precursor cell | 4 studies | 25% ± 6% | |
| retinal pigment epithelial cell | 3 studies | 37% ± 12% | |
| ciliated cell | 3 studies | 20% ± 4% | |
| monocyte | 3 studies | 34% ± 22% |
Tissue | GTEx Coverage | GTEx Average TPM | GTEx Number of samples | TCGA Coverage | TCGA Average TPM | TCGA Number of samples |
|---|---|---|---|---|---|---|
| liver | 100% | 27281.13 | 226 / 226 | 97% | 459.54 | 395 / 406 |
| skin | 91% | 1738.47 | 1646 / 1809 | 99% | 266.54 | 467 / 472 |
| kidney | 100% | 2676.28 | 89 / 89 | 89% | 88.53 | 803 / 901 |
| adrenal gland | 100% | 5580.72 | 258 / 258 | 88% | 65.04 | 202 / 230 |
| breast | 100% | 2820.97 | 458 / 459 | 87% | 67.88 | 973 / 1118 |
| lung | 100% | 7374.85 | 578 / 578 | 75% | 53.48 | 872 / 1155 |
| brain | 96% | 2499.75 | 2539 / 2642 | 77% | 51.56 | 546 / 705 |
| intestine | 100% | 3575.08 | 966 / 966 | 73% | 42.98 | 385 / 527 |
| prostate | 100% | 5267.16 | 245 / 245 | 72% | 56.66 | 362 / 502 |
| thymus | 97% | 1653.20 | 634 / 653 | 63% | 34.25 | 382 / 605 |
| stomach | 89% | 1271.78 | 320 / 359 | 69% | 41.33 | 197 / 286 |
| bladder | 100% | 2922.24 | 21 / 21 | 47% | 25.37 | 239 / 504 |
| ovary | 100% | 3835.91 | 180 / 180 | 43% | 13.35 | 186 / 430 |
| uterus | 100% | 2670.78 | 170 / 170 | 41% | 20.99 | 189 / 459 |
| esophagus | 88% | 2035.27 | 1272 / 1445 | 30% | 11.72 | 55 / 183 |
| pancreas | 30% | 272.96 | 99 / 328 | 87% | 56.91 | 155 / 178 |
| eye | 0% | 0 | 0 / 0 | 100% | 332.31 | 80 / 80 |
| ureter | 0% | 0 | 0 / 0 | 100% | 19.22 | 1 / 1 |
| blood vessel | 99% | 2985.07 | 1321 / 1335 | 0% | 0 | 0 / 0 |
| adipose | 99% | 2764.31 | 1190 / 1204 | 0% | 0 | 0 / 0 |
| spleen | 99% | 1633.63 | 238 / 241 | 0% | 0 | 0 / 0 |
| muscle | 97% | 2142.01 | 780 / 803 | 0% | 0 | 0 / 0 |
| heart | 91% | 1835.79 | 784 / 861 | 0% | 0 | 0 / 0 |
| lymph node | 0% | 0 | 0 / 0 | 79% | 164.87 | 23 / 29 |
| peripheral blood | 65% | 1532.59 | 603 / 929 | 0% | 0 | 0 / 0 |
| tonsil | 0% | 0 | 0 / 0 | 47% | 57.41 | 21 / 45 |
| 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_0008203 | Biological process | cholesterol metabolic process |
| GO_0006707 | Biological process | cholesterol catabolic process |
| GO_0006699 | Biological process | bile acid biosynthetic process |
| GO_0036378 | Biological process | calcitriol biosynthetic process from calciol |
| GO_0016125 | Biological process | sterol metabolic process |
| GO_0005759 | Cellular component | mitochondrial matrix |
| GO_0005743 | Cellular component | mitochondrial inner membrane |
| GO_0005739 | Cellular component | mitochondrion |
| GO_0031073 | Molecular function | cholesterol 26-hydroxylase activity |
| GO_0005506 | Molecular function | iron ion binding |
| GO_0030343 | Molecular function | vitamin D3 25-hydroxylase activity |
| GO_0047748 | Molecular function | cholestanetetraol 26-dehydrogenase activity |
| GO_0008395 | Molecular function | steroid hydroxylase activity |
| GO_0020037 | Molecular function | heme binding |
| Gene name | CYP27A1 |
| Protein name | Cytochrome P450 family 27 subfamily A member 1 Sterol 27-hydroxylase Sterol 26-hydroxylase, mitochondrial (EC 1.14.15.15) (5-beta-cholestane-3-alpha,7-alpha,12-alpha-triol 26-hydroxylase) (Cytochrome P-450C27/25) (Cytochrome P450 27) (Sterol 27-hydroxylase) (Vitamin D(3) 25-hydroxylase) |
| Synonyms | CYP27 |
| Description | FUNCTION: Cytochrome P450 monooxygenase that catalyzes regio- and stereospecific hydroxylation of cholesterol and its derivatives. Hydroxylates (with R stereochemistry) the terminal methyl group of cholesterol side-chain in a three step reaction to yield at first a C26 alcohol, then a C26 aldehyde and finally a C26 acid . Regulates cholesterol homeostasis by catalyzing the conversion of excess cholesterol to bile acids via both the 'neutral' (classic) and the 'acid' (alternative) pathways . May also regulate cholesterol homeostasis via generation of active oxysterols, which act as ligands for NR1H2 and NR1H3 nuclear receptors, modulating the transcription of genes involved in lipid metabolism . Plays a role in cholestanol metabolism in the cerebellum. Similarly to cholesterol, hydroxylates cholestanol and may facilitate sterol diffusion through the blood-brain barrier to the systemic circulation for further degradation . Also hydroxylates retinal 7-ketocholesterol, a noxious oxysterol with pro-inflammatory and pro-apoptotic effects, and may play a role in its elimination from the retinal pigment epithelium . May play a redundant role in vitamin D biosynthesis. Catalyzes 25-hydroxylation of vitamin D3 that is required for its conversion to a functionally active form . . |
| Accessions | F8WD90 C9J1K5 ENST00000445971.1 Q02318 Q96T86 ENST00000258415.9 ENST00000411688.1 |