DTNBP1 | OmnibusX

I. Expression across cell types

Name	Number of supported studies	Average coverage
endothelial cell	12 studies	22% ± 5%	Explore
microglial cell	9 studies	26% ± 10%	Explore
retinal rod cell	8 studies	29% ± 11%	Explore
macrophage	8 studies	27% ± 10%	Explore
plasmacytoid dendritic cell	8 studies	22% ± 6%	Explore
naive B cell	7 studies	18% ± 2%	Explore
B cell	7 studies	22% ± 5%	Explore
amacrine cell	6 studies	31% ± 13%	Explore
dendritic cell	6 studies	21% ± 8%	Explore
mast cell	6 studies	20% ± 5%	Explore
epithelial cell	5 studies	26% ± 8%	Explore
retinal cone cell	5 studies	39% ± 17%	Explore
myeloid cell	5 studies	23% ± 4%	Explore
astrocyte	5 studies	36% ± 10%	Explore
ciliated cell	4 studies	19% ± 1%	Explore
glutamatergic neuron	4 studies	46% ± 19%	Explore
endothelial cell of lymphatic vessel	4 studies	21% ± 4%	Explore
monocyte	4 studies	22% ± 5%	Explore
oligodendrocyte	4 studies	22% ± 6%	Explore
CD16-positive, CD56-dim natural killer cell, human	3 studies	19% ± 3%	Explore
GABAergic amacrine cell	3 studies	48% ± 8%	Explore
precursor B cell	3 studies	25% ± 4%	Explore
retina horizontal cell	3 studies	19% ± 3%	Explore
mononuclear phagocyte	3 studies	18% ± 2%	Explore
muscle cell	3 studies	16% ± 1%	Explore
GABAergic neuron	3 studies	48% ± 9%	Explore
oligodendrocyte precursor cell	3 studies	25% ± 6%	Explore
natural killer cell	3 studies	19% ± 2%	Explore
alveolar macrophage	3 studies	27% ± 7%	Explore
basal cell	3 studies	22% ± 6%	Explore
transit amplifying cell	3 studies	26% ± 12%	Explore
interneuron	3 studies	38% ± 18%	Explore
abnormal cell	3 studies	20% ± 4%	Explore

II. Expression across tissues

Name	Number of supported studies	Average coverage
eye	6 studies	28% ± 9%	Explore
brain	4 studies	41% ± 6%	Explore

Tissue	GTEx Coverage	GTEx Average TPM	GTEx Number of samples	TCGA Coverage	TCGA Average TPM	TCGA Number of samples
ovary	100%	741.82	180 / 180	100%	17.78	430 / 430
stomach	100%	951.12	359 / 359	100%	20.77	286 / 286
skin	100%	881.55	1808 / 1809	100%	40.32	472 / 472
lung	100%	1104.40	577 / 578	100%	20.01	1155 / 1155
bladder	100%	1391.95	21 / 21	100%	24.26	503 / 504
prostate	100%	1080.93	245 / 245	100%	22.72	501 / 502
uterus	100%	1045.79	170 / 170	100%	26.62	458 / 459
thymus	100%	1088.90	652 / 653	100%	30.52	604 / 605
intestine	100%	1459.10	966 / 966	100%	23.37	525 / 527
breast	100%	1119.70	459 / 459	100%	25.85	1113 / 1118
brain	100%	1919.10	2641 / 2642	99%	23.47	701 / 705
esophagus	100%	1147.74	1445 / 1445	99%	11.84	181 / 183
kidney	100%	1135.35	89 / 89	99%	21.86	891 / 901
pancreas	97%	466.55	317 / 328	100%	20.00	178 / 178
adrenal gland	99%	635.67	256 / 258	95%	14.01	219 / 230
liver	80%	299.42	180 / 226	89%	11.65	363 / 406
adipose	100%	1093.20	1204 / 1204	0%	0	0 / 0
blood vessel	100%	1697.06	1335 / 1335	0%	0	0 / 0
eye	0%	0	0 / 0	100%	29.81	80 / 80
lymph node	0%	0	0 / 0	100%	90.17	29 / 29
spleen	100%	1546.24	241 / 241	0%	0	0 / 0
tonsil	0%	0	0 / 0	100%	23.64	45 / 45
ureter	0%	0	0 / 0	100%	13.15	1 / 1
muscle	99%	937.40	798 / 803	0%	0	0 / 0
peripheral blood	99%	1061.27	916 / 929	0%	0	0 / 0
heart	98%	900.38	846 / 861	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

III. Associated gene sets

GO_0014059	Biological process	regulation of dopamine secretion
GO_0060271	Biological process	cilium assembly
GO_0060159	Biological process	regulation of dopamine receptor signaling pathway
GO_0006469	Biological process	negative regulation of protein kinase activity
GO_0048813	Biological process	dendrite morphogenesis
GO_0031175	Biological process	neuron projection development
GO_0008089	Biological process	anterograde axonal transport
GO_0010628	Biological process	positive regulation of gene expression
GO_0061002	Biological process	negative regulation of dendritic spine morphogenesis
GO_0001822	Biological process	kidney development
GO_0060041	Biological process	retina development in camera-type eye
GO_0001934	Biological process	positive regulation of protein phosphorylation
GO_0007596	Biological process	blood coagulation
GO_0032438	Biological process	melanosome organization
GO_0002092	Biological process	positive regulation of receptor internalization
GO_0061646	Biological process	positive regulation of glutamate neurotransmitter secretion in response to membrane depolarization
GO_0048812	Biological process	neuron projection morphogenesis
GO_0048490	Biological process	anterograde synaptic vesicle transport
GO_0030036	Biological process	actin cytoskeleton organization
GO_0060155	Biological process	platelet dense granule organization
GO_0001956	Biological process	positive regulation of neurotransmitter secretion
GO_0007613	Biological process	memory
GO_2000300	Biological process	regulation of synaptic vesicle exocytosis
GO_0071806	Biological process	protein transmembrane transport
GO_0098978	Cellular component	glutamatergic synapse
GO_0030496	Cellular component	midbody
GO_0016528	Cellular component	sarcoplasm
GO_0098685	Cellular component	Schaffer collateral - CA1 synapse
GO_0005886	Cellular component	plasma membrane
GO_0043197	Cellular component	dendritic spine
GO_0005789	Cellular component	endoplasmic reticulum membrane
GO_0030672	Cellular component	synaptic vesicle membrane
GO_0042383	Cellular component	sarcolemma
GO_0043025	Cellular component	neuronal cell body
GO_0098686	Cellular component	hippocampal mossy fiber to CA3 synapse
GO_0043005	Cellular component	neuron projection
GO_0033162	Cellular component	melanosome membrane
GO_0005829	Cellular component	cytosol
GO_0015630	Cellular component	microtubule cytoskeleton
GO_0014069	Cellular component	postsynaptic density
GO_0030426	Cellular component	growth cone
GO_0031083	Cellular component	BLOC-1 complex
GO_0005737	Cellular component	cytoplasm
GO_0045211	Cellular component	postsynaptic membrane
GO_0010008	Cellular component	endosome membrane
GO_0030424	Cellular component	axon
GO_1904115	Cellular component	axon cytoplasm
GO_0005634	Cellular component	nucleus
GO_0005515	Molecular function	protein binding

IV. Literature review

[source]

Gene name	DTNBP1
Protein name	Dystrobrevin binding protein 1 isoform 1 Dysbindin (Biogenesis of lysosome-related organelles complex 1 subunit 8) (BLOC-1 subunit 8) (Dysbindin-1) (Dystrobrevin-binding protein 1) (Hermansky-Pudlak syndrome 7 protein) (HPS7 protein) Dystrobrevin binding protein 1
Synonyms	BLOC1S8 My031
Description	FUNCTION: Component of the BLOC-1 complex, a complex that is required for normal biogenesis of lysosome-related organelles (LRO), such as platelet dense granules and melanosomes. In concert with the AP-3 complex, the BLOC-1 complex is required to target membrane protein cargos into vesicles assembled at cell bodies for delivery into neurites and nerve terminals. The BLOC-1 complex, in association with SNARE proteins, is also proposed to be involved in neurite extension. Associates with the BLOC-2 complex to facilitate the transport of TYRP1 independent of AP-3 function. Plays a role in synaptic vesicle trafficking and in neurotransmitter release. Plays a role in the regulation of cell surface exposure of DRD2. May play a role in actin cytoskeleton reorganization and neurite outgrowth. May modulate MAPK8 phosphorylation. Appears to promote neuronal transmission and viability through regulating the expression of SNAP25 and SYN1, modulating PI3-kinase-Akt signaling and influencing glutamatergic release. Regulates the expression of SYN1 through binding to its promoter. Modulates prefrontal cortical activity via the dopamine/D2 pathway. .
Accessions	A6NFV8 ENST00000355917.7 ENST00000338950.9 [Q96EV8-2] D6RAX1 ENST00000515875.5 ENST00000622898.4 ENST00000506844.1 ENST00000462989.6 A0A087WYP9 D6RJC6 ENST00000511762.2 A0A0S2Z5U8 D6RCT8 D6RB80 Q96EV8 ENST00000344537.10 [Q96EV8-1] ENST00000509674.1 ENST00000513680.5 ENST00000510395.5 D6RID1 D6RAR7

DTNBP1 report

I. Expression across cell types

II. Expression across tissues

III. Associated gene sets

IV. Literature review