AutismKB 2.0

Annotation Detail for SCN3A


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Basic Information Top
Gene Symbol:SCN3A ( KIAA1356,NAC3,Nav1.3 )
Gene Full Name: sodium channel, voltage-gated, type III, alpha subunit
Band: 2q24.3
Quick LinksEntrez ID:6328; OMIM: 182391; Uniprot ID:SCN3A_HUMAN; ENSEMBL ID: ENSG00000153253; HGNC ID: 10590
Relate to Another Database: SFARIGene; denovo-db
Unigene EST Top
Pool Name Gene EST/Total EST in pool Transcripts per million(TPM) Bar based on TPM
embryoid body0 / 707610 
blastocyst1 / 6231916
fetus9 / 56401215
neonate0 / 310970 
infant0 / 236200 
juvenile0 / 555560 
adult13 / 19391216
Pool Name Gene EST/Total EST in pool Transcripts per million(TPM) Bar based on TPM
adrenal tumor0 / 127940 
bladder carcinoma0 / 174750 
breast (mammary gland) tumor0 / 941780 
cervical tumor0 / 343660 
chondrosarcoma0 / 828230 
colorectal tumor0 / 1142460 
esophageal tumor0 / 172900 
gastrointestinal tumor0 / 1193690 
germ cell tumor1 / 2638453
glioma3 / 10688328
head and neck tumor3 / 13630222
kidney tumor2 / 6895929
leukemia0 / 958420 
liver tumor0 / 963590 
lung tumor0 / 1031270 
lymphoma0 / 717550 
non-neoplasia2 / 9725020
normal25 / 33603077
ovarian tumor0 / 766820 
pancreatic tumor0 / 1046160 
primitive neuroectodermal tumor of the CNS0 / 1256800 
prostate cancer0 / 1026800 
retinoblastoma0 / 463560 
skin tumor0 / 1249490 
soft tissue/muscle tissue tumor0 / 1251910 
uterine tumor0 / 902570 
Pool Name Gene EST/Total EST in pool Transcripts per million(TPM) Bar based on TPM
adipose tissue0 / 131060 
adrenal gland1 / 3319730
ascites0 / 400150 
bladder0 / 297570 
blood0 / 1234780 
bone0 / 716550 
bone marrow0 / 488010 
brain25 / 110098922
cervix0 / 481710 
connective tissue0 / 1492550 
ear0 / 162120 
embryonic tissue1 / 2157224
esophagus0 / 202090 
eye3 / 21105414
heart0 / 896260 
intestine0 / 2344720 
kidney2 / 2117779
larynx0 / 241450 
liver0 / 2077430 
lung10 / 33697429
lymph0 / 442700 
lymph node0 / 916100 
mammary gland0 / 1532710 
mouth2 / 6705229
muscle1 / 1077159
nerve1 / 1576863
ovary0 / 1020510 
pancreas0 / 2148120 
parathyroid0 / 205390 
pharynx0 / 413280 
pituitary gland0 / 165850 
placenta0 / 2808250 
prostate0 / 1893450 
salivary gland0 / 201550 
skin0 / 2105740 
spleen0 / 539520 
stomach0 / 966190 
testis5 / 33044215
thymus2 / 8113124
thyroid1 / 4747321
tonsil0 / 169990 
trachea2 / 5241338
umbilical cord0 / 136800 
uterus0 / 2328780 
vascular0 / 517800 
Microarray in BioGPS Top
Select probe  
  • Microarray Platform: GeneAtlas U133A, gcrma
  • Affymatrix Probe ID: 210432_s_at
Cell line Expression level Expression bar
721_B_lymphoblasts6.5
Adipocyte5.85
AdrenalCortex6.95
Adrenalgland5.4
Amygdala86.95
Appendix10.85
AtrioventricularNode6.35
BDCA4+_DentriticCells6.05
Bonemarrow6.6
BronchialEpithelialCells5.7
CD105+_Endothelial6.1
CD14+_Monocytes6.35
CD19+_BCells(neg._sel.)34.05
CD33+_Myeloid7.25
CD34+7.15
CD4+_Tcells6.2
CD56+_NKCells6.65
CD71+_EarlyErythroid5.75
CD8+_Tcells5.3
CardiacMyocytes9.2
Caudatenucleus40.2
Cerebellum5.5
CerebellumPeduncles11.3
CiliaryGanglion5.2
CingulateCortex15.4
Colorectaladenocarcinoma6.05
DorsalRootGanglion5.55
FetalThyroid6.1
Fetalbrain899.75
Fetalliver5.3
Fetallung4.55
GlobusPallidus8.85
Heart10
Hypothalamus104.55
Kidney5.2
Leukemia_chronicMyelogenousK-5625.35
Leukemia_promyelocytic-HL-605.35
Leukemialymphoblastic(MOLT-4)56.15
Liver8.6
Lung6.55
Lymphnode5
Lymphoma_burkitts(Daudi)7.85
Lymphoma_burkitts(Raji)9
MedullaOblongata22.4
OccipitalLobe32.65
OlfactoryBulb4.65
Ovary4.5
Pancreas5
PancreaticIslet6.45
ParietalLobe7.1
Pituitary29.7
Placenta5.85
Pons8.25
PrefrontalCortex113.5
Prostate6.85
Salivarygland5.1
SkeletalMuscle9.7
Skin5.35
SmoothMuscle6.75
Spinalcord6.5
SubthalamicNucleus8.55
SuperiorCervicalGanglion11.95
TemporalLobe9.65
Testis5.15
TestisGermCell4.7
TestisIntersitial5.2
TestisLeydigCell6.7
TestisSeminiferousTubule5.15
Thalamus11.1
Thymus4.75
Thyroid7.3
Tongue6.6
Tonsil6.2
Trachea5
TrigeminalGanglion7.15
Uterus4.7
UterusCorpus6.3
WholeBlood6.5
Wholebrain8
colon6.05
pineal_day7.36
pineal_night7.26
retina7.275
small_intestine5.7
Allen Brain Atlas Top
Human Whole Brain Microarrayview in Allen Brain Atlas
  • Probe id     Donor id      
  • Probe name: CUST_550_PI416408490
  • Donor H0351.2001
  • Sex: Male     Age: 24 years     Race/Ethnicity: African American     Handedness: Left
  • Tissue Receipt Date: 7/29/2009     Serology: Pass      Tissue pH :6.72     Additional Medical Information :History of asthma
  • Postmortem Interval: 23 hours (estimated time of death to time that tissue is frozen)
  • Toxicology: Positive for atropine and caffeine, at levels usually not toxicologically significant
Tissue Expression(mean ± stddev) Expression Bar
Amygdala6.17 ± 0.47
Basal Forebrain6.17 ± 0.4
Basal Part of Pons5.21 ± 0.44
Cerebellar Cortex5.97 ± 0.29
Cerebellar Nuclei5.02 ± 0.59
Claustrum6.19 ± 0.56
Epithalamus5.73 ± 0.41
Frontal Lobe5.67 ± 0.62
Globus Pallidus4.23 ± 0.49
Hypothalamus6.76 ± 0.13
Insula6.25 ± 0.3
Limbic Lobe5.89 ± 0.64
Mesencephalon5.96 ± 0.6
Myelencephalon5.77 ± 0.73
Occipital Lobe5.83 ± 0.52
Parietal Lobe5.58 ± 0.49
Pontine Tegmentum5.91 ± 0.7
Striatum6.21 ± 0.5
Subthalamus5.53 ± 0.69
Temporal Lobe6.05 ± 0.44
Thalamus5.67 ± 0.63
White Matter3.99 ± 0.25
Mouse Brain ISH
Gene Symbol Brain Structure ID Brain Structure Name Express Desity/Level (Meatured by ISH) Express Bar
Scn3aCBCerebellum0.27
0.47
Scn3aCTXCerebral cortex0.47
0.7
Scn3aHIPHippocampal region0.29
0.6
Scn3aHPFHippocampal formation0.22
0.38
Scn3aHYHypothalamus0.02
0.02
Scn3aLSXLateral septal complex0.31
0.6
Scn3aMBMidbrain0.19
0.28
Scn3aMYMedulla0.1
0.31
Scn3aOLFOlfactory bulb0.22
0.32
Scn3aPPons0.87
1.44
Scn3aPALPallidum0.13
0.13
Scn3aRHPRetrohippocampal region0.1
0.08
Scn3asAMYStriatum-like amygdalar nuclei0.11
0.14
Scn3aSTRStriatum0.12
0.14
Scn3aSTRdStriatum dorsal region0.11
0.1
Scn3aSTRvStriatum ventral region0.09
0.11
Scn3aTHThalamus0.4
0.57
Peptide Top
Peptide Name Peptide Lengh Peptide Start Peptide End Peptide Sequence Source
PAp00070342 12 1847 1858 IHCLDILFAFTK Peptide Atlas

Simple Query:


  (e.g. CHD8)

Syndromic Genes

Non-syndromic Genes

AutismKB Statistics

  • Studies: 1,036
  • Genes: 1,379
  • CNVs/SVs: 5,420
  • SNVs/Indels: 11,669
  • de novo Mutations: 5,669
  • Mosaics: 789
  • Linkage Regions: 172
  • Paper Collected: 6/30/2018
  • Last Update: 8/26/2018