Name | Number of supported studies  | Average coverage | |
|---|---|---|---|
| astrocyte | 15 studies | 38% ± 19% | |
| oligodendrocyte | 13 studies | 34% ± 15% | |
| oligodendrocyte precursor cell | 10 studies | 37% ± 17% | |
| GABAergic neuron | 6 studies | 34% ± 17% | |
| endothelial cell | 5 studies | 23% ± 7% | |
| ciliated cell | 5 studies | 21% ± 6% | |
| epithelial cell | 4 studies | 24% ± 7% | |
| glutamatergic neuron | 4 studies | 50% ± 19% | |
| retinal cone cell | 3 studies | 20% ± 1% | |
| ependymal cell | 3 studies | 34% ± 17% |
Name | Number of supported studies | Average coverage | |
|---|---|---|---|
| brain | 9 studies | 37% ± 18% |
Tissue | GTEx Coverage | GTEx Average TPM | GTEx Number of samples | TCGA Coverage | TCGA Average TPM | TCGA Number of samples |
|---|---|---|---|---|---|---|
| brain | 100% | 5391.31 | 2642 / 2642 | 100% | 57.45 | 703 / 705 |
| kidney | 100% | 2834.61 | 89 / 89 | 100% | 19.80 | 897 / 901 |
| prostate | 100% | 3098.46 | 245 / 245 | 99% | 16.41 | 499 / 502 |
| thymus | 100% | 3257.46 | 652 / 653 | 99% | 23.59 | 601 / 605 |
| adrenal gland | 100% | 9365.35 | 258 / 258 | 99% | 26.79 | 228 / 230 |
| breast | 100% | 3169.58 | 457 / 459 | 99% | 16.34 | 1102 / 1118 |
| bladder | 100% | 2784.00 | 21 / 21 | 96% | 11.37 | 485 / 504 |
| intestine | 100% | 2800.11 | 965 / 966 | 96% | 11.59 | 506 / 527 |
| esophagus | 100% | 2748.38 | 1441 / 1445 | 95% | 9.56 | 174 / 183 |
| uterus | 100% | 3425.25 | 170 / 170 | 94% | 11.52 | 432 / 459 |
| skin | 100% | 4328.22 | 1804 / 1809 | 94% | 14.91 | 443 / 472 |
| ovary | 100% | 4927.72 | 180 / 180 | 93% | 10.03 | 402 / 430 |
| lung | 96% | 1910.77 | 556 / 578 | 97% | 11.86 | 1120 / 1155 |
| stomach | 97% | 1858.10 | 349 / 359 | 92% | 10.08 | 264 / 286 |
| pancreas | 79% | 906.88 | 259 / 328 | 97% | 13.61 | 173 / 178 |
| liver | 57% | 540.50 | 128 / 226 | 67% | 5.78 | 274 / 406 |
| spleen | 100% | 2609.61 | 241 / 241 | 0% | 0 | 0 / 0 |
| ureter | 0% | 0 | 0 / 0 | 100% | 4.51 | 1 / 1 |
| blood vessel | 100% | 3297.85 | 1334 / 1335 | 0% | 0 | 0 / 0 |
| adipose | 100% | 2708.81 | 1203 / 1204 | 0% | 0 | 0 / 0 |
| muscle | 99% | 2654.33 | 796 / 803 | 0% | 0 | 0 / 0 |
| heart | 92% | 2127.46 | 793 / 861 | 0% | 0 | 0 / 0 |
| lymph node | 0% | 0 | 0 / 0 | 90% | 8.46 | 26 / 29 |
| eye | 0% | 0 | 0 / 0 | 89% | 10.25 | 71 / 80 |
| tonsil | 0% | 0 | 0 / 0 | 82% | 6.40 | 37 / 45 |
| peripheral blood | 29% | 338.98 | 273 / 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_0007288 | Biological process | sperm axoneme assembly |
| GO_0007601 | Biological process | visual perception |
| 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_0010629 | Biological process | negative regulation of gene expression |
| GO_0045494 | Biological process | photoreceptor cell maintenance |
| GO_0033365 | Biological process | protein localization to organelle |
| GO_0021756 | Biological process | striatum development |
| GO_0040015 | Biological process | negative regulation of multicellular organism growth |
| GO_0032402 | Biological process | melanosome transport |
| GO_0014824 | Biological process | artery smooth muscle contraction |
| GO_0030534 | Biological process | adult behavior |
| GO_0048854 | Biological process | brain morphogenesis |
| GO_0010467 | Biological process | gene expression |
| GO_0008104 | Biological process | protein localization |
| GO_0021987 | Biological process | cerebral cortex development |
| GO_0042311 | Biological process | vasodilation |
| GO_0043001 | Biological process | Golgi to plasma membrane protein transport |
| GO_0051216 | Biological process | cartilage development |
| GO_0040018 | Biological process | positive regulation of multicellular organism growth |
| GO_0045444 | Biological process | fat cell differentiation |
| GO_0005902 | Cellular component | microvillus |
| GO_0032420 | Cellular component | stereocilium |
| GO_0034451 | Cellular component | centriolar satellite |
| GO_0016020 | Cellular component | membrane |
| GO_0034464 | Cellular component | BBSome |
| GO_0031514 | Cellular component | motile cilium |
| GO_0043005 | Cellular component | neuron projection |
| GO_0060170 | Cellular component | ciliary membrane |
| GO_0005829 | Cellular component | cytosol |
| GO_0036064 | Cellular component | ciliary basal body |
| GO_0061629 | Molecular function | RNA polymerase II-specific DNA-binding transcription factor binding |
| GO_0005515 | Molecular function | protein binding |
| Gene name | BBS2 |
| Protein name | Bardet-Biedl syndrome 2 protein Bardet-Biedl syndrome 2 protein homolog Bardet-Biedl syndrome 2 |
| Synonyms | |
| 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. . |
| Accessions | ENST00000682658.1 ENST00000682088.1 A0A804HK50 H3BRL0 ENST00000683690.1 ENST00000683020.1 ENST00000682855 ENST00000682047 A0A804HKL9 Q9BXC9 A0A804HK97 ENST00000682449.1 ENST00000684635.1 ENST00000569941.6 A0A804HIE1 A0A804HLL2 ENST00000684246.1 ENST00000682543.1 ENST00000561877.2 A0A804HIZ8 ENST00000568104.6 ENST00000682205 A0A804HKG1 ENST00000682723.1 A0A804HKI7 ENST00000682348.1 ENST00000682470.1 ENST00000562012.2 ENST00000682493.1 ENST00000682735.1 A0A804HJV2 A0A804HLC6 A0A804HIQ9 ENST00000683959.1 ENST00000683976.1 ENST00000683875.1 A0A804HK25 ENST00000683212.1 A0A804HJ30 ENST00000683644.1 ENST00000682470 A0A804F8L3 A0A804HIK5 A0A804HIE0 A0A804HK51 ENST00000682429.1 ENST00000682187.1 ENST00000682930.1 ENST00000682205.1 ENST00000245157.11 A0A804HLF5 A0A804HKF2 ENST00000682360.1 A0A804HJV0 A0A804HI33 ENST00000682737.1 ENST00000683533.1 ENST00000684684.1 H3BNS7 H3BQ79 ENST00000682855.1 ENST00000682188.1 ENST00000682482.1 ENST00000684673.1 ENST00000683992.1 ENST00000682047.1 A0A804HJQ5 A0A804HLD7 ENST00000683384.1 ENST00000683858.1 ENST00000684640.1 ENST00000682875.1 ENST00000682038.1 A0A804HHV5 |
