BBS5 | OmnibusX

Name	Number of supported studies	Average coverage
brain	3 studies	35% ± 16%	Explore

Tissue	GTEx Coverage	GTEx Average TPM	GTEx Number of samples	TCGA Coverage	TCGA Average TPM	TCGA Number of samples
brain	100%	1404.04	2641 / 2642	99%	8.76	701 / 705
thymus	100%	1774.15	653 / 653	99%	8.82	598 / 605
prostate	100%	1239.44	245 / 245	99%	5.41	496 / 502
skin	100%	992.69	1809 / 1809	99%	11.29	466 / 472
ovary	100%	1223.69	180 / 180	98%	7.74	423 / 430
adrenal gland	100%	1038.74	258 / 258	97%	5.83	223 / 230
breast	100%	1005.07	459 / 459	91%	5.32	1022 / 1118
kidney	100%	886.90	89 / 89	89%	4.37	806 / 901
pancreas	97%	462.36	319 / 328	92%	4.19	163 / 178
esophagus	100%	876.81	1440 / 1445	87%	4.36	159 / 183
lung	99%	772.46	575 / 578	83%	3.40	956 / 1155
bladder	100%	1042.86	21 / 21	81%	3.20	409 / 504
stomach	98%	653.61	353 / 359	77%	3.16	221 / 286
uterus	100%	1276.95	170 / 170	74%	3.85	341 / 459
intestine	99%	814.65	952 / 966	67%	2.54	354 / 527
liver	82%	248.02	185 / 226	23%	0.89	95 / 406
adipose	100%	897.82	1204 / 1204	0%	0	0 / 0
spleen	100%	677.14	241 / 241	0%	0	0 / 0
ureter	0%	0	0 / 0	100%	3.76	1 / 1
blood vessel	100%	818.09	1334 / 1335	0%	0	0 / 0
muscle	100%	815.73	801 / 803	0%	0	0 / 0
heart	97%	715.16	834 / 861	0%	0	0 / 0
eye	0%	0	0 / 0	93%	8.13	74 / 80
lymph node	0%	0	0 / 0	59%	1.60	17 / 29
tonsil	0%	0	0 / 0	49%	1.87	22 / 45
peripheral blood	18%	54.42	163 / 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_0060271	Biological process	cilium assembly
GO_0007601	Biological process	visual perception
GO_0015031	Biological process	protein transport
GO_0046907	Biological process	intracellular transport
GO_0032402	Biological process	melanosome transport
GO_0001947	Biological process	heart looping
GO_0044458	Biological process	motile cilium assembly
GO_0060170	Cellular component	ciliary membrane
GO_0005930	Cellular component	axoneme
GO_0036064	Cellular component	ciliary basal body
GO_0005829	Cellular component	cytosol
GO_0034451	Cellular component	centriolar satellite
GO_0034464	Cellular component	BBSome
GO_0061629	Molecular function	RNA polymerase II-specific DNA-binding transcription factor binding
GO_0005515	Molecular function	protein binding
GO_0032266	Molecular function	phosphatidylinositol-3-phosphate binding

Gene name	BBS5
Protein name	Bardet-Biedl syndrome 5 isoform 1 Bardet-Biedl syndrome 5 Bardet-Biedl syndrome 5 isoform 2 Bardet-Biedl syndrome 5 protein
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 BBSome complex ciliary localization but not for the proper complex assembly. .
Accessions	ENST00000392663.6 [Q8N3I7-2] F8WBR7 A0A0S2Z6S7 A0A0S2Z626 ENST00000443151.1 ENST00000295240.8 [Q8N3I7-1] Q8N3I7

BBS5 report