HPS5 | OmnibusX

Name	Number of supported studies	Average coverage
conventional dendritic cell	6 studies	22% ± 4%	Explore
dendritic cell	5 studies	25% ± 6%	Explore
macrophage	5 studies	20% ± 4%	Explore
astrocyte	4 studies	25% ± 5%	Explore
endothelial cell	3 studies	38% ± 25%	Explore
epithelial cell	3 studies	31% ± 2%	Explore
oligodendrocyte	3 studies	19% ± 0%	Explore

Name	Number of supported studies	Average coverage
brain	3 studies	26% ± 2%	Explore

Tissue	GTEx Coverage	GTEx Average TPM	GTEx Number of samples	TCGA Coverage	TCGA Average TPM	TCGA Number of samples
esophagus	100%	1115.66	1445 / 1445	100%	14.50	183 / 183
skin	100%	1923.36	1809 / 1809	100%	74.45	472 / 472
lung	100%	1818.72	577 / 578	100%	16.68	1153 / 1155
breast	100%	1912.31	459 / 459	99%	18.29	1111 / 1118
brain	99%	1007.41	2623 / 2642	100%	17.30	704 / 705
thymus	100%	1334.34	653 / 653	99%	13.81	597 / 605
kidney	100%	1047.75	89 / 89	98%	12.64	883 / 901
uterus	99%	1124.34	169 / 170	98%	12.48	451 / 459
intestine	100%	1131.94	966 / 966	97%	9.67	511 / 527
prostate	100%	1063.61	244 / 245	97%	9.81	488 / 502
adrenal gland	100%	1743.02	258 / 258	97%	12.37	222 / 230
liver	100%	4030.88	226 / 226	96%	12.82	388 / 406
ovary	100%	1442.44	180 / 180	95%	8.12	410 / 430
stomach	98%	778.74	351 / 359	98%	10.27	279 / 286
bladder	100%	1053.67	21 / 21	95%	9.47	477 / 504
pancreas	95%	689.16	310 / 328	98%	12.27	175 / 178
adipose	100%	1365.23	1204 / 1204	0%	0	0 / 0
eye	0%	0	0 / 0	100%	58.02	80 / 80
lymph node	0%	0	0 / 0	100%	25.50	29 / 29
spleen	100%	1882.88	241 / 241	0%	0	0 / 0
blood vessel	100%	2117.21	1333 / 1335	0%	0	0 / 0
tonsil	0%	0	0 / 0	98%	15.95	44 / 45
muscle	95%	688.82	761 / 803	0%	0	0 / 0
heart	91%	804.16	781 / 861	0%	0	0 / 0
peripheral blood	77%	1204.99	719 / 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
ureter	0%	0	0 / 0	0%	0	0 / 1

GO_0048066	Biological process	developmental pigmentation
GO_0046907	Biological process	intracellular transport
GO_0060155	Biological process	platelet dense granule organization
GO_0007596	Biological process	blood coagulation
GO_1903232	Biological process	melanosome assembly
GO_0031084	Cellular component	BLOC-2 complex
GO_0005829	Cellular component	cytosol
GO_0005737	Cellular component	cytoplasm
GO_0005769	Cellular component	early endosome
GO_0005515	Molecular function	protein binding

Gene name	HPS5
Protein name	HPS5 biogenesis of lysosomal organelles complex 2 subunit 2 HPS5 biogenesis of lysosomal organelles complex 2 subunit 2 (Hermansky-Pudlak syndrome 5, isoform CRA_b) BLOC-2 complex member HPS5 (Alpha-integrin-binding protein 63) (Hermansky-Pudlak syndrome 5 protein) (Ruby-eye protein 2 homolog) (Ru2)
Synonyms	KIAA1017 AIBP63 hCG_1784765
Description	FUNCTION: May regulate the synthesis and function of lysosomes and of highly specialized organelles, such as melanosomes and platelet dense granules. Regulates intracellular vesicular trafficking in fibroblasts. May be involved in the regulation of general functions of integrins. .
Accessions	ENST00000671838.2 [Q9UPZ3-1] G3V159 ENST00000672413.1 [Q9UPZ3-2] ENST00000531848.1 Q9UPZ3 ENST00000672334.1 [Q9UPZ3-2] ENST00000396253.7 [Q9UPZ3-2] F5H6Q8 ENST00000544218.5 ENST00000537258.1 ENST00000349215.8 [Q9UPZ3-1] F5GWM5 ENST00000438420.6 [Q9UPZ3-2]

HPS5 report