Name | Number of supported studies  | Average coverage | |
|---|---|---|---|
| ciliated cell | 10 studies | 26% ± 8% | |
| retinal cone cell | 6 studies | 28% ± 9% | |
| retinal rod cell | 5 studies | 22% ± 3% | |
| astrocyte | 5 studies | 26% ± 7% | |
| epithelial cell | 4 studies | 19% ± 3% | |
| glutamatergic neuron | 4 studies | 33% ± 12% | |
| GABAergic neuron | 3 studies | 35% ± 5% | |
| oligodendrocyte precursor cell | 3 studies | 21% ± 4% | |
| oligodendrocyte | 3 studies | 16% ± 2% |
Tissue | GTEx Coverage | GTEx Average TPM | GTEx Number of samples | TCGA Coverage | TCGA Average TPM | TCGA Number of samples |
|---|---|---|---|---|---|---|
| prostate | 100% | 1964.63 | 245 / 245 | 100% | 50.70 | 502 / 502 |
| brain | 100% | 1081.32 | 2632 / 2642 | 100% | 23.10 | 705 / 705 |
| thymus | 100% | 2060.97 | 653 / 653 | 100% | 19.46 | 602 / 605 |
| kidney | 100% | 1498.52 | 89 / 89 | 99% | 20.48 | 889 / 901 |
| lung | 100% | 1230.39 | 577 / 578 | 99% | 14.62 | 1140 / 1155 |
| breast | 100% | 1334.89 | 459 / 459 | 98% | 21.82 | 1101 / 1118 |
| pancreas | 100% | 825.39 | 328 / 328 | 98% | 13.40 | 175 / 178 |
| esophagus | 100% | 1095.95 | 1442 / 1445 | 98% | 9.56 | 179 / 183 |
| uterus | 100% | 1619.50 | 170 / 170 | 97% | 12.51 | 445 / 459 |
| skin | 100% | 1147.89 | 1809 / 1809 | 97% | 21.87 | 457 / 472 |
| bladder | 100% | 1438.00 | 21 / 21 | 97% | 10.78 | 487 / 504 |
| adrenal gland | 100% | 1757.60 | 258 / 258 | 97% | 14.69 | 222 / 230 |
| ovary | 100% | 1809.24 | 180 / 180 | 96% | 11.35 | 414 / 430 |
| stomach | 100% | 1107.45 | 359 / 359 | 93% | 8.60 | 267 / 286 |
| liver | 100% | 674.75 | 226 / 226 | 91% | 9.92 | 369 / 406 |
| intestine | 100% | 1271.48 | 966 / 966 | 90% | 8.40 | 472 / 527 |
| adipose | 100% | 1152.90 | 1204 / 1204 | 0% | 0 | 0 / 0 |
| blood vessel | 100% | 1363.95 | 1335 / 1335 | 0% | 0 | 0 / 0 |
| muscle | 100% | 1292.31 | 803 / 803 | 0% | 0 | 0 / 0 |
| spleen | 100% | 1009.62 | 241 / 241 | 0% | 0 | 0 / 0 |
| ureter | 0% | 0 | 0 / 0 | 100% | 7.65 | 1 / 1 |
| heart | 97% | 796.68 | 831 / 861 | 0% | 0 | 0 / 0 |
| tonsil | 0% | 0 | 0 / 0 | 96% | 9.56 | 43 / 45 |
| eye | 0% | 0 | 0 / 0 | 94% | 17.48 | 75 / 80 |
| lymph node | 0% | 0 | 0 / 0 | 93% | 9.05 | 27 / 29 |
| peripheral blood | 60% | 346.50 | 555 / 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_1905515 | Biological process | non-motile cilium assembly |
| GO_0060271 | Biological process | cilium assembly |
| GO_0007601 | Biological process | visual perception |
| GO_0061512 | Biological process | protein localization to cilium |
| GO_0030837 | Biological process | negative regulation of actin filament polymerization |
| GO_0001895 | Biological process | retina homeostasis |
| GO_0038108 | Biological process | negative regulation of appetite by leptin-mediated signaling pathway |
| GO_0060296 | Biological process | regulation of cilium beat frequency involved in ciliary motility |
| GO_0021766 | Biological process | hippocampus development |
| GO_0035845 | Biological process | photoreceptor cell outer segment organization |
| GO_0010629 | Biological process | negative regulation of gene expression |
| GO_1903546 | Biological process | protein localization to photoreceptor outer segment |
| GO_0046548 | Biological process | retinal rod cell development |
| GO_0045494 | Biological process | photoreceptor cell maintenance |
| GO_0071539 | Biological process | protein localization to centrosome |
| GO_1902855 | Biological process | regulation of non-motile cilium assembly |
| GO_0019216 | Biological process | regulation of lipid metabolic process |
| GO_0001764 | Biological process | neuron migration |
| GO_0007608 | Biological process | sensory perception of smell |
| GO_0000281 | Biological process | mitotic cytokinesis |
| GO_0033365 | Biological process | protein localization to organelle |
| GO_0021756 | Biological process | striatum development |
| GO_0007098 | Biological process | centrosome cycle |
| GO_0003085 | Biological process | negative regulation of systemic arterial blood pressure |
| GO_0051457 | Biological process | maintenance of protein location in nucleus |
| GO_0050893 | Biological process | sensory processing |
| GO_0021591 | Biological process | ventricular system development |
| GO_0060613 | Biological process | fat pad development |
| GO_0040018 | Biological process | positive regulation of multicellular organism growth |
| GO_0045724 | Biological process | positive regulation of cilium assembly |
| GO_0051492 | Biological process | regulation of stress fiber assembly |
| GO_0060324 | Biological process | face development |
| GO_0001843 | Biological process | neural tube closure |
| GO_0000226 | Biological process | microtubule cytoskeleton organization |
| GO_0030534 | Biological process | adult behavior |
| GO_0048854 | Biological process | brain morphogenesis |
| GO_0015031 | Biological process | protein transport |
| GO_0010467 | Biological process | gene expression |
| GO_0021987 | Biological process | cerebral cortex development |
| GO_0034454 | Biological process | microtubule anchoring at centrosome |
| GO_0035176 | Biological process | social behavior |
| GO_0016358 | Biological process | dendrite development |
| GO_0007286 | Biological process | spermatid development |
| GO_0045444 | Biological process | fat cell differentiation |
| GO_0032465 | Biological process | regulation of cytokinesis |
| GO_0032391 | Cellular component | photoreceptor connecting cilium |
| GO_0034451 | Cellular component | centriolar satellite |
| GO_0001750 | Cellular component | photoreceptor outer segment |
| GO_0034464 | Cellular component | BBSome |
| GO_0005813 | Cellular component | centrosome |
| GO_0031514 | Cellular component | motile cilium |
| GO_0001917 | Cellular component | photoreceptor inner segment |
| GO_0005814 | Cellular component | centriole |
| GO_0060170 | Cellular component | ciliary membrane |
| GO_0097730 | Cellular component | non-motile cilium |
| GO_0005929 | Cellular component | cilium |
| GO_0005829 | Cellular component | cytosol |
| GO_0035869 | Cellular component | ciliary transition zone |
| GO_0036064 | Cellular component | ciliary basal body |
| GO_0000242 | Cellular component | pericentriolar material |
| GO_0005634 | Cellular component | nucleus |
| GO_0048487 | Molecular function | beta-tubulin binding |
| GO_0034452 | Molecular function | dynactin binding |
| GO_0061629 | Molecular function | RNA polymerase II-specific DNA-binding transcription factor binding |
| GO_0030674 | Molecular function | protein-macromolecule adaptor activity |
| GO_0043014 | Molecular function | alpha-tubulin binding |
| GO_0005515 | Molecular function | protein binding |
| Gene name | BBS4 |
| Protein name | Bardet-Biedl syndrome 4 isoform 1 (Bardet-Biedl syndrome 4, isoform CRA_a) Bardet-Biedl syndrome 4 Bardet-Biedl syndrome 4 protein Bardet-Biedl syndrome 4 isoform 3 |
| Synonyms | hCG_40463 |
| Description | FUNCTION: The BBSome complex is thought to function as a coat complex required for sorting of specific membrane proteins to the primary cilia. The BBSome complex is required for ciliogenesis but is dispensable for centriolar satellite function. This ciliogenic function is mediated in part by the Rab8 GDP/GTP exchange factor, which localizes to the basal body and contacts the BBSome. Rab8(GTP) enters the primary cilium and promotes extension of the ciliary membrane. Firstly the BBSome associates with the ciliary membrane and binds to RAB3IP/Rabin8, the guanosyl exchange factor (GEF) for Rab8 and then the Rab8-GTP localizes to the cilium and promotes docking and fusion of carrier vesicles to the base of the ciliary membrane. The BBSome complex, together with the LTZL1, controls SMO ciliary trafficking and contributes to the sonic hedgehog (SHH) pathway regulation. Required for proper BBSome complex assembly and its ciliary localization. Required for microtubule anchoring at the centrosome but not for microtubule nucleation. May be required for the dynein-mediated transport of pericentriolar proteins to the centrosome. . |
| Accessions | H3BU58 H3BV56 H3BUQ7 ENST00000566829.1 H3BRY9 H3BUU1 ENST00000562084.5 ENST00000566938.5 ENST00000566197.1 ENST00000566400.5 H3BQV7 ENST00000569440.5 H3BSL2 Q96RK4 A0A0S2Z3A9 H3BN76 H3BSE2 ENST00000268057.9 [Q96RK4-1] ENST00000395205.6 [Q96RK4-3] ENST00000567279.5 ENST00000563600.5 ENST00000561914.5 ENST00000565160.5 ENST00000569338.5 H3BPP7 A0A0S2Z328 |
