Name | Number of supported studies  | Average coverage | |
|---|---|---|---|
| ciliated cell | 18 studies | 42% ± 15% | |
| cardiac muscle cell | 5 studies | 28% ± 5% | |
| astrocyte | 5 studies | 31% ± 8% | |
| deuterosomal cell | 4 studies | 17% ± 2% | |
| glutamatergic neuron | 4 studies | 54% ± 21% | |
| endothelial cell | 3 studies | 25% ± 6% | |
| epithelial cell | 3 studies | 24% ± 7% | |
| retinal cone cell | 3 studies | 20% ± 4% | |
| GABAergic neuron | 3 studies | 43% ± 4% | |
| ependymal cell | 3 studies | 59% ± 14% |
Name | Number of supported studies | Average coverage | |
|---|---|---|---|
| brain | 4 studies | 38% ± 19% |
Tissue | GTEx Coverage | GTEx Average TPM | GTEx Number of samples | TCGA Coverage | TCGA Average TPM | TCGA Number of samples |
|---|---|---|---|---|---|---|
| ovary | 100% | 1102.07 | 180 / 180 | 100% | 6.81 | 428 / 430 |
| breast | 100% | 681.12 | 458 / 459 | 99% | 6.68 | 1104 / 1118 |
| esophagus | 99% | 437.64 | 1436 / 1445 | 99% | 5.60 | 181 / 183 |
| thymus | 100% | 1293.79 | 653 / 653 | 98% | 5.22 | 594 / 605 |
| lung | 99% | 665.85 | 571 / 578 | 99% | 4.74 | 1142 / 1155 |
| prostate | 100% | 649.64 | 245 / 245 | 97% | 3.19 | 487 / 502 |
| adrenal gland | 100% | 682.43 | 258 / 258 | 97% | 3.60 | 223 / 230 |
| pancreas | 99% | 383.16 | 324 / 328 | 98% | 3.75 | 174 / 178 |
| uterus | 100% | 1030.15 | 170 / 170 | 96% | 4.15 | 441 / 459 |
| bladder | 100% | 640.48 | 21 / 21 | 96% | 3.58 | 484 / 504 |
| brain | 95% | 580.57 | 2511 / 2642 | 99% | 5.43 | 696 / 705 |
| kidney | 100% | 602.88 | 89 / 89 | 94% | 4.54 | 844 / 901 |
| skin | 99% | 536.78 | 1797 / 1809 | 93% | 5.83 | 438 / 472 |
| stomach | 98% | 421.74 | 353 / 359 | 94% | 3.47 | 268 / 286 |
| intestine | 98% | 479.10 | 946 / 966 | 93% | 3.11 | 489 / 527 |
| ureter | 0% | 0 | 0 / 0 | 100% | 1.99 | 1 / 1 |
| adipose | 100% | 474.24 | 1203 / 1204 | 0% | 0 | 0 / 0 |
| blood vessel | 100% | 535.72 | 1331 / 1335 | 0% | 0 | 0 / 0 |
| spleen | 99% | 279.57 | 238 / 241 | 0% | 0 | 0 / 0 |
| tonsil | 0% | 0 | 0 / 0 | 98% | 3.55 | 44 / 45 |
| heart | 98% | 1103.76 | 841 / 861 | 0% | 0 | 0 / 0 |
| eye | 0% | 0 | 0 / 0 | 69% | 2.31 | 55 / 80 |
| lymph node | 0% | 0 | 0 / 0 | 66% | 1.17 | 19 / 29 |
| liver | 23% | 37.52 | 52 / 226 | 29% | 0.79 | 118 / 406 |
| peripheral blood | 19% | 95.48 | 178 / 929 | 0% | 0 | 0 / 0 |
| muscle | 16% | 28.47 | 130 / 803 | 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_0010826 | Biological process | negative regulation of centrosome duplication |
| GO_0060271 | Biological process | cilium assembly |
| GO_0035567 | Biological process | non-canonical Wnt signaling pathway |
| GO_0036503 | Biological process | ERAD pathway |
| GO_0060170 | Cellular component | ciliary membrane |
| GO_0005813 | Cellular component | centrosome |
| GO_0036038 | Cellular component | MKS complex |
| GO_0035869 | Cellular component | ciliary transition zone |
| GO_0030659 | Cellular component | cytoplasmic vesicle membrane |
| GO_0005789 | Cellular component | endoplasmic reticulum membrane |
| GO_0051082 | Molecular function | unfolded protein binding |
| GO_0005515 | Molecular function | protein binding |
| GO_0031005 | Molecular function | filamin binding |
| Gene name | TMEM67 |
| Protein name | Transmembrane protein 67 isoform 3 Transmembrane protein 67 isoform 2 Meckelin (Transmembrane protein 67 isoform 1) (Transmembrane protein 67, isoform CRA_a) Meckelin (Meckel syndrome type 3 protein) (Transmembrane protein 67) Transmembrane protein 67 |
| Synonyms | hCG_1643235 MKS3 |
| Description | FUNCTION: Required for ciliary structure and function. Part of the tectonic-like complex which is required for tissue-specific ciliogenesis and may regulate ciliary membrane composition (By similarity). Involved in centrosome migration to the apical cell surface during early ciliogenesis. Involved in the regulation of cilia length and appropriate number through the control of centrosome duplication. Is a key regulator of stereociliary bundle orientation (By similarity). Required for epithelial cell branching morphology. Essential for endoplasmic reticulum-associated degradation (ERAD) of surfactant protein C (SFTPC). Involved in the negative regulation of canonical Wnt signaling, and activation of the non-canonical cascade stimulated by WNT5A . In non-canonical Wnt signaling, it may act as ROR2 coreceptor (By similarity). . |
| Accessions | ENST00000683336.1 ENST00000518896.2 ENST00000682577.1 A0A804HL43 ENST00000452276.6 ENST00000323130 A0A804HJR8 ENST00000683953.1 A0A804HKM9 A0A804HJS5 ENST00000682700.1 H0YB69 ENST00000683919.1 ENST00000682624.1 ENST00000681998.1 C9JHI2 E5RH38 ENST00000682837.1 ENST00000684149.1 ENST00000521222.5 A0A0C4DFP8 A0A804HJX6 ENST00000684064.1 ENST00000521517.6 A0A804HHW8 ENST00000683223.1 ENST00000682036.1 ENST00000409623.8 ENST00000453906.6 E5RG10 ENST00000518319.5 ENST00000520680.2 Q5HYA8 ENST00000684023.1 F8WCQ6 A0A804HLK0 ENST00000455946.5 C9JRQ8 ENST00000521065.2 A0A804HIB2 ENST00000682984.1 A0A7P0MXI9 ENST00000683362.1 ENST00000683078.1 A0A804HKM4 H0YC18 ENST00000519845.5 A0A0S2Z611 ENST00000323130.8 H0YAR5 A0A0S2Z5T9 ENST00000684343.1 ENST00000453321.8 ENST00000684540.1 |
