Name | Number of supported studies  | Average coverage | |
|---|---|---|---|
| cholangiocyte | 4 studies | 80% ± 6% | |
| kidney loop of Henle epithelial cell | 4 studies | 61% ± 35% | |
| renal principal cell | 4 studies | 63% ± 36% | |
| hepatocyte | 3 studies | 46% ± 21% | |
| endothelial cell | 3 studies | 48% ± 14% | |
| kidney distal convoluted tubule epithelial cell | 3 studies | 74% ± 34% |
Name | Number of supported studies | Average coverage | |
|---|---|---|---|
| kidney | 4 studies | 61% ± 29% |
Tissue | GTEx Coverage | GTEx Average TPM | GTEx Number of samples | TCGA Coverage | TCGA Average TPM | TCGA Number of samples |
|---|---|---|---|---|---|---|
| kidney | 100% | 7513.13 | 89 / 89 | 86% | 16.51 | 773 / 901 |
| pancreas | 100% | 3527.63 | 328 / 328 | 73% | 4.33 | 130 / 178 |
| liver | 100% | 650.52 | 226 / 226 | 30% | 3.72 | 122 / 406 |
| bladder | 86% | 270.90 | 18 / 21 | 16% | 0.41 | 82 / 504 |
| prostate | 85% | 102.78 | 208 / 245 | 10% | 0.23 | 52 / 502 |
| stomach | 75% | 263.95 | 270 / 359 | 12% | 0.27 | 35 / 286 |
| skin | 63% | 44.50 | 1133 / 1809 | 12% | 0.53 | 58 / 472 |
| intestine | 48% | 26.12 | 464 / 966 | 11% | 0.32 | 58 / 527 |
| lung | 33% | 14.67 | 193 / 578 | 17% | 0.43 | 198 / 1155 |
| breast | 35% | 25.74 | 162 / 459 | 4% | 0.11 | 44 / 1118 |
| ovary | 4% | 14.92 | 8 / 180 | 25% | 0.66 | 107 / 430 |
| adipose | 28% | 23.47 | 332 / 1204 | 0% | 0 | 0 / 0 |
| muscle | 28% | 12.55 | 221 / 803 | 0% | 0 | 0 / 0 |
| adrenal gland | 17% | 11.43 | 44 / 258 | 10% | 0.33 | 23 / 230 |
| esophagus | 3% | 1.79 | 48 / 1445 | 23% | 0.59 | 43 / 183 |
| thymus | 21% | 5.99 | 134 / 653 | 1% | 0.02 | 5 / 605 |
| uterus | 8% | 3.42 | 14 / 170 | 8% | 0.19 | 38 / 459 |
| brain | 2% | 0.59 | 47 / 2642 | 0% | 0 | 0 / 705 |
| heart | 2% | 0.42 | 15 / 861 | 0% | 0 | 0 / 0 |
| peripheral blood | 1% | 1.23 | 12 / 929 | 0% | 0 | 0 / 0 |
| spleen | 1% | 0.61 | 3 / 241 | 0% | 0 | 0 / 0 |
| blood vessel | 1% | 0.60 | 16 / 1335 | 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 |
| eye | 0% | 0 | 0 / 0 | 0% | 0 | 0 / 80 |
| gingiva | 0% | 0 | 0 / 0 | 0% | 0 | 0 / 0 |
| lymph node | 0% | 0 | 0 / 0 | 0% | 0 | 0 / 29 |
| 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 |
| tonsil | 0% | 0 | 0 / 0 | 0% | 0 | 0 / 45 |
| ureter | 0% | 0 | 0 / 0 | 0% | 0 | 0 / 1 |
| GO_0060271 | Biological process | cilium assembly |
| GO_0070372 | Biological process | regulation of ERK1 and ERK2 cascade |
| GO_0048754 | Biological process | branching morphogenesis of an epithelial tube |
| GO_0022407 | Biological process | regulation of cell-cell adhesion |
| GO_0003382 | Biological process | epithelial cell morphogenesis |
| GO_1904054 | Biological process | regulation of cholangiocyte proliferation |
| GO_0001822 | Biological process | kidney development |
| GO_0000132 | Biological process | establishment of mitotic spindle orientation |
| GO_0006874 | Biological process | intracellular calcium ion homeostasis |
| GO_0001952 | Biological process | regulation of cell-matrix adhesion |
| GO_0090175 | Biological process | regulation of establishment of planar polarity |
| GO_0032088 | Biological process | negative regulation of NF-kappaB transcription factor activity |
| GO_0045216 | Biological process | cell-cell junction organization |
| GO_0051898 | Biological process | negative regulation of phosphatidylinositol 3-kinase/protein kinase B signal transduction |
| GO_0050679 | Biological process | positive regulation of epithelial cell proliferation |
| GO_0010824 | Biological process | regulation of centrosome duplication |
| GO_0043066 | Biological process | negative regulation of apoptotic process |
| GO_1904036 | Biological process | negative regulation of epithelial cell apoptotic process |
| GO_0008284 | Biological process | positive regulation of cell population proliferation |
| GO_0042592 | Biological process | homeostatic process |
| GO_0030155 | Biological process | regulation of cell adhesion |
| GO_0098609 | Biological process | cell-cell adhesion |
| GO_0032006 | Biological process | regulation of TOR signaling |
| GO_0051660 | Biological process | establishment of centrosome localization |
| GO_0000775 | Cellular component | chromosome, centromeric region |
| GO_0016324 | Cellular component | apical plasma membrane |
| GO_0009897 | Cellular component | external side of plasma membrane |
| GO_0072686 | Cellular component | mitotic spindle |
| GO_0048471 | Cellular component | perinuclear region of cytoplasm |
| GO_0005813 | Cellular component | centrosome |
| GO_0097731 | Cellular component | 9+0 non-motile cilium |
| GO_0070062 | Cellular component | extracellular exosome |
| GO_0005794 | Cellular component | Golgi apparatus |
| GO_0005929 | Cellular component | cilium |
| GO_0005783 | Cellular component | endoplasmic reticulum |
| GO_0005737 | Cellular component | cytoplasm |
| GO_0036064 | Cellular component | ciliary basal body |
| GO_0005634 | Cellular component | nucleus |
| GO_0038023 | Molecular function | signaling receptor activity |
| GO_0005515 | Molecular function | protein binding |
| Gene name | PKHD1 |
| Protein name | Alternative protein PKHD1 Fibrocystin (Polycystic kidney and hepatic disease 1 protein) (Polyductin) (Tigmin) |
| Synonyms | TIGM1 FCYT |
| Description | FUNCTION: Promotes ciliogenesis in renal epithelial cells and therefore participates in the tubules formation and/ or ensures the maintenance of the architecture of the lumen of the kidney (By similarity). Has an impact on cellular symmetry by ensuring correct bipolar cell division through the regulation of centrosome duplication and mitotic spindle assembly and by maintaining oriented cell division (OCD) during tubular elongation through planar cell polarity (PCP) pathway . During epithelial cell morphogenesis regulates also cell-cell and cell-matrix adhesion and participates in cell motility (By similarity). Promotes cell-cell contact through the positive regulation of PTK2 kinase activity leading to either positive regulation of epithelial cell proliferation through the HRAS/RAF1 pathways, or negative regulation of apoptosis through the PDK1/AKT1 pathway (By similarity). May act in collecting-duct and biliary differentiation . May participate in the regulation of the cholangiocytes proliferation and the CCN2 production in an CXCL8-dependent manner . . |
| Accessions | L0R5C3 ENST00000340994.4 [P08F94-2] ENST00000371117.8 [P08F94-1] P08F94 |
