SCN1A | OmnibusX

I. Expression across cell types

Name	Number of supported studies	Average coverage
oligodendrocyte precursor cell	15 studies	65% ± 17%	Explore
GABAergic neuron	10 studies	60% ± 24%	Explore
glutamatergic neuron	10 studies	63% ± 25%	Explore
interneuron	6 studies	54% ± 29%	Explore
retinal ganglion cell	6 studies	76% ± 13%	Explore
type II pneumocyte	6 studies	34% ± 6%	Explore
neuron	4 studies	35% ± 9%	Explore
astrocyte	4 studies	28% ± 12%	Explore
granule cell	4 studies	25% ± 7%	Explore
endothelial cell	3 studies	40% ± 17%	Explore
GABAergic interneuron	3 studies	59% ± 16%	Explore
ON-bipolar cell	3 studies	53% ± 18%	Explore

II. Expression across tissues

Name	Number of supported studies	Average coverage
brain	16 studies	35% ± 24%	Explore

Tissue	GTEx Coverage	GTEx Average TPM	GTEx Number of samples	TCGA Coverage	TCGA Average TPM	TCGA Number of samples
brain	98%	2308.01	2583 / 2642	94%	7.11	664 / 705
lung	55%	838.97	319 / 578	9%	0.20	107 / 1155
skin	7%	37.13	134 / 1809	2%	0.04	8 / 472
uterus	2%	55.90	3 / 170	1%	0.11	6 / 459
breast	0%	0	0 / 459	3%	0.17	33 / 1118
prostate	0%	0	0 / 245	2%	0.13	10 / 502
ovary	1%	2.42	1 / 180	1%	0.01	3 / 430
eye	0%	0	0 / 0	1%	0.02	1 / 80
esophagus	0%	0	0 / 1445	1%	0.01	2 / 183
bladder	0%	0	0 / 21	1%	0.03	5 / 504
heart	1%	2.18	8 / 861	0%	0	0 / 0
adrenal gland	0%	2.19	1 / 258	0%	0.01	1 / 230
liver	0%	0	0 / 226	1%	0.04	3 / 406
stomach	0%	0	0 / 359	1%	0.01	2 / 286
pancreas	0%	0	0 / 328	1%	0.01	1 / 178
kidney	0%	0	0 / 89	0%	0.02	4 / 901
intestine	0%	0.23	1 / 966	0%	0.00	1 / 527
abdomen	0%	0	0 / 0	0%	0	0 / 0
adipose	0%	0	0 / 1204	0%	0	0 / 0
blood vessel	0%	0	0 / 1335	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
lymph node	0%	0	0 / 0	0%	0	0 / 29
muscle	0%	0	0 / 803	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
peripheral blood	0%	0	0 / 929	0%	0	0 / 0
placenta	0%	0	0 / 0	0%	0	0 / 0
spinal column	0%	0	0 / 0	0%	0	0 / 0
spleen	0%	0	0 / 241	0%	0	0 / 0
thymus	0%	0	0 / 653	0%	0	0 / 605
tonsil	0%	0	0 / 0	0%	0	0 / 45
ureter	0%	0	0 / 0	0%	0	0 / 1

III. Associated gene sets

GO_0007628	Biological process	adult walking behavior
GO_0086002	Biological process	cardiac muscle cell action potential involved in contraction
GO_0021675	Biological process	nerve development
GO_0008340	Biological process	determination of adult lifespan
GO_0050966	Biological process	detection of mechanical stimulus involved in sensory perception of pain
GO_0050884	Biological process	neuromuscular process controlling posture
GO_0051649	Biological process	establishment of localization in cell
GO_0099505	Biological process	regulation of presynaptic membrane potential
GO_0006814	Biological process	sodium ion transport
GO_0019228	Biological process	neuronal action potential
GO_0086010	Biological process	membrane depolarization during action potential
GO_0035725	Biological process	sodium ion transmembrane transport
GO_0019227	Biological process	neuronal action potential propagation
GO_0005886	Cellular component	plasma membrane
GO_0030018	Cellular component	Z disc
GO_0005654	Cellular component	nucleoplasm
GO_0043194	Cellular component	axon initial segment
GO_0043025	Cellular component	neuronal cell body
GO_0030315	Cellular component	T-tubule
GO_0016604	Cellular component	nuclear body
GO_0033268	Cellular component	node of Ranvier
GO_0001518	Cellular component	voltage-gated sodium channel complex
GO_0014704	Cellular component	intercalated disc
GO_0005248	Molecular function	voltage-gated sodium channel activity
GO_0099508	Molecular function	voltage-gated monoatomic ion channel activity involved in regulation of presynaptic membrane potential

IV. Literature review

[source]

Gene name	SCN1A
Protein name	SCN1A Sodium channel protein type 1 subunit alpha (Sodium channel protein brain I subunit alpha) (Sodium channel protein type I subunit alpha) (Voltage-gated sodium channel subunit alpha Nav1.1) Sodium channel protein Sodium voltage-gated channel alpha subunit 1 Sodium channel voltage gated type 1 alpha subunit transcript variant 2
Synonyms	NAC1 SCN1
Description	FUNCTION: Mediates the voltage-dependent sodium ion permeability of excitable membranes. Assuming opened or closed conformations in response to the voltage difference across the membrane, the protein forms a sodium-selective channel through which Na(+) ions may pass in accordance with their electrochemical gradient . Plays a key role in brain, probably by regulating the moment when neurotransmitters are released in neurons. Involved in sensory perception of mechanical pain: activation in somatosensory neurons induces pain without neurogenic inflammation and produces hypersensitivity to mechanical, but not thermal stimuli. . FUNCTION: Mediates the voltage-dependent sodium ion permeability of excitable membranes. Assuming opened or closed conformations in response to the voltage difference across the membrane, the protein forms a sodium-selective channel through which Na(+) ions may pass in accordance with their electrochemical gradient. . FUNCTION: Mediates the voltage-dependent sodium ion permeability of excitable membranes. Assuming opened or closed conformations in response to the voltage difference across the membrane, the protein forms a sodium-selective channel through which Na(+) ions may pass in accordance with their electrochemical gradient. . FUNCTION: Mediates the voltage-dependent sodium ion permeability of excitable membranes. Assuming opened or closed conformations in response to the voltage difference across the membrane, the protein forms a sodium-selective channel through which Na(+) ions may pass in accordance with their electrochemical gradient. .
Accessions	A0A2P1H0R3 ENST00000636759.1 A0A2P1H0S1 A0A2U8RN71 P35498 A0A1B0GUN7 ENST00000637988.1 [P35498-2] F8T7W4 ENST00000674923.1 [P35498-1] A0A2P1H0S4 A0A2R4LFI1 A0A2U8RN85 ENST00000641603.1 ENST00000303395.9 [P35498-1] A0A2P1H0T3 F8T7W6 A0A2R4LFM3 A0A286YF26 A0A2P1H0T0 A0A1B0GWE6 ENST00000689288.1 ENST00000636194.1 A0A2P1H0U7 A0A2U8RN66 A0A2U8RN45 A0A2U8RN74 F8T7W5 A0A2P1H0R4 A0A286YEQ8 A0A2R4LFR3 ENST00000637038.1 F8T7W7 A0A2P1H0T4 A0A5F9ZHI6 ENST00000641575.1 A0A1W2PPJ3 A0A2R4LFP2 ENST00000671940.1 A0A286YFA8 ENST00000635776.1 A0A290Y5I0 ENST00000409050.1 [P35498-3] ENST00000641996.1 A0A1B0GVX7 A0A2P1H0P2 A0A1B0GUX7 A0A290Y5C0 ENST00000375405.7 [P35498-2] A0A2P1H0K5 A0A2P1H0H1 A0A2R4LFP4 A0A2P1H0N9 A0A8I5KYC1 F8T7W8 A0A2U8RN75 ENST00000635750.1 [P35498-2] A0A2P1H0L1 ENST00000640036.1

SCN1A report

I. Expression across cell types

II. Expression across tissues

III. Associated gene sets

IV. Literature review