AutismKB 2.0

Annotation Detail for SCN1B


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Basic Information Top
Gene Symbol:SCN1B ( GEFSP1 )
Gene Full Name: sodium channel, voltage-gated, type I, beta
Band: 19q13.11
Quick LinksEntrez ID:6324; OMIM: 600235; Uniprot ID:SCN1B_HUMAN; ENSEMBL ID: ENSG00000105711; HGNC ID: 10586
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 
blastocyst2 / 6231932
fetus3 / 5640125
neonate0 / 310970 
infant0 / 236200 
juvenile0 / 555560 
adult36 / 193912118
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) tumor2 / 9417821
cervical tumor0 / 343660 
chondrosarcoma4 / 8282348
colorectal tumor0 / 1142460 
esophageal tumor0 / 172900 
gastrointestinal tumor0 / 1193690 
germ cell tumor2 / 2638457
glioma2 / 10688318
head and neck tumor0 / 1363020 
kidney tumor1 / 6895914
leukemia0 / 958420 
liver tumor1 / 9635910
lung tumor0 / 1031270 
lymphoma0 / 717550 
non-neoplasia1 / 9725010
normal81 / 336030724
ovarian tumor1 / 7668213
pancreatic tumor0 / 1046160 
primitive neuroectodermal tumor of the CNS0 / 1256800 
prostate cancer1 / 1026809
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 gland0 / 331970 
ascites0 / 400150 
bladder0 / 297570 
blood0 / 1234780 
bone3 / 7165541
bone marrow0 / 488010 
brain32 / 110098929
cervix0 / 481710 
connective tissue3 / 14925520
ear0 / 162120 
embryonic tissue2 / 2157229
esophagus0 / 202090 
eye10 / 21105447
heart0 / 896260 
intestine0 / 2344720 
kidney3 / 21177714
larynx0 / 241450 
liver1 / 2077434
lung1 / 3369742
lymph0 / 442700 
lymph node0 / 916100 
mammary gland8 / 15327152
mouth0 / 670520 
muscle21 / 107715194
nerve0 / 157680 
ovary1 / 1020519
pancreas6 / 21481227
parathyroid0 / 205390 
pharynx0 / 413280 
pituitary gland0 / 165850 
placenta0 / 2808250 
prostate1 / 1893455
salivary gland0 / 201550 
skin0 / 2105740 
spleen1 / 5395218
stomach0 / 966190 
testis0 / 3304420 
thymus1 / 8113112
thyroid0 / 474730 
tonsil0 / 169990 
trachea0 / 524130 
umbilical cord0 / 136800 
uterus2 / 2328788
vascular0 / 517800 
Microarray in BioGPS Top
Select probe  
  • Microarray Platform: GeneAtlas U133A, gcrma
  • Affymatrix Probe ID: 205508_at
Cell line Expression level Expression bar
721_B_lymphoblasts25.25
Adipocyte44.4
AdrenalCortex42.25
Adrenalgland45.95
Amygdala77.25
Appendix40.85
AtrioventricularNode28.6
BDCA4+_DentriticCells22.1
Bonemarrow43.4
BronchialEpithelialCells25.95
CD105+_Endothelial30.25
CD14+_Monocytes23.25
CD19+_BCells(neg._sel.)31.65
CD33+_Myeloid33.55
CD34+27
CD4+_Tcells21.75
CD56+_NKCells36.45
CD71+_EarlyErythroid37.75
CD8+_Tcells15.1
CardiacMyocytes46.3
Caudatenucleus134.8
Cerebellum284.6
CerebellumPeduncles556.35
CiliaryGanglion29.35
CingulateCortex579
Colorectaladenocarcinoma28.15
DorsalRootGanglion31.7
FetalThyroid39.4
Fetalbrain42.35
Fetalliver31.6
Fetallung33.55
GlobusPallidus192.3
Heart213.75
Hypothalamus97.7
Kidney34.4
Leukemia_chronicMyelogenousK-56236.7
Leukemia_promyelocytic-HL-6030.5
Leukemialymphoblastic(MOLT-4)36.05
Liver70.05
Lung45.3
Lymphnode38.75
Lymphoma_burkitts(Daudi)39.35
Lymphoma_burkitts(Raji)46.65
MedullaOblongata364.5
OccipitalLobe113.9
OlfactoryBulb29.45
Ovary25.7
Pancreas29.7
PancreaticIslet54.9
ParietalLobe351
Pituitary70.1
Placenta35.5
Pons224.7
PrefrontalCortex682.65
Prostate43.15
Salivarygland29.25
SkeletalMuscle379.7
Skin27.9
SmoothMuscle94.35
Spinalcord70.45
SubthalamicNucleus277.65
SuperiorCervicalGanglion59
TemporalLobe364.85
Testis34.9
TestisGermCell26.35
TestisIntersitial24.05
TestisLeydigCell53.15
TestisSeminiferousTubule36.2
Thalamus392.65
Thymus29.05
Thyroid56.6
Tongue44.65
Tonsil34.8
Trachea44.3
TrigeminalGanglion45.25
Uterus30.25
UterusCorpus35.95
WholeBlood34
Wholebrain361
colon37
pineal_day156.58
pineal_night129.54
retina64.5
small_intestine31.15
Allen Brain Atlas Top
Human Whole Brain Microarrayview in Allen Brain Atlas
  • Probe id     Donor id      
  • Probe name: CUST_13445_PI416261804
  • 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
Amygdala4.51 ± 0.79
Basal Forebrain4.01 ± 0.67
Basal Part of Pons6.32 ± 0.5
Cerebellar Cortex5.71 ± 0.3
Cerebellar Nuclei6.4 ± 0.31
Claustrum4.86 ± 0.73
Epithalamus3.57 ± 0.92
Frontal Lobe5.04 ± 1.05
Globus Pallidus4.82 ± 0.84
Hypothalamus3.58 ± 0.74
Insula3.7 ± 1.35
Limbic Lobe4.62 ± 1.04
Mesencephalon4.67 ± 1.01
Myelencephalon4.93 ± 1.17
Occipital Lobe6.26 ± 0.69
Parietal Lobe5.73 ± 0.74
Pontine Tegmentum5.03 ± 1.01
Striatum4.04 ± 0.82
Subthalamus5.8 ± 0.32
Temporal Lobe4.68 ± 1.04
Thalamus5.78 ± 1.02
White Matter3.47 ± 0.32
Mouse Brain ISH
Peptide Top

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


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