AutismKB 2.0

Annotation Detail for SCN7A


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Basic Information Top
Gene Symbol:SCN7A ( SCN6A )
Gene Full Name: sodium channel, voltage-gated, type VII, alpha
Band: 2q24.3
Quick LinksEntrez ID:6332; OMIM: 182392; Uniprot ID:SCN7A_HUMAN; ENSEMBL ID: ENSG00000136546; HGNC ID: 10594
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 
blastocyst0 / 623190 
fetus4 / 5640127
neonate0 / 310970 
infant0 / 236200 
juvenile1 / 5555617
adult6 / 19391213
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 
chondrosarcoma1 / 8282312
colorectal tumor0 / 1142460 
esophageal tumor0 / 172900 
gastrointestinal tumor0 / 1193690 
germ cell tumor0 / 2638450 
glioma0 / 1068830 
head and neck tumor0 / 1363020 
kidney tumor0 / 689590 
leukemia0 / 958420 
liver tumor0 / 963590 
lung tumor0 / 1031270 
lymphoma0 / 717550 
non-neoplasia0 / 972500 
normal14 / 33603074
ovarian tumor0 / 766820 
pancreatic tumor2 / 10461619
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 gland0 / 331970 
ascites0 / 400150 
bladder0 / 297570 
blood0 / 1234780 
bone0 / 716550 
bone marrow0 / 488010 
brain0 / 11009890 
cervix0 / 481710 
connective tissue0 / 1492550 
ear2 / 16212123
embryonic tissue1 / 2157224
esophagus0 / 202090 
eye0 / 2110540 
heart1 / 8962611
intestine2 / 2344728
kidney0 / 2117770 
larynx0 / 241450 
liver1 / 2077434
lung3 / 3369748
lymph0 / 442700 
lymph node0 / 916100 
mammary gland0 / 1532710 
mouth0 / 670520 
muscle3 / 10771527
nerve1 / 1576863
ovary0 / 1020510 
pancreas2 / 2148129
parathyroid0 / 205390 
pharynx0 / 413280 
pituitary gland0 / 165850 
placenta0 / 2808250 
prostate0 / 1893450 
salivary gland0 / 201550 
skin0 / 2105740 
spleen0 / 539520 
stomach0 / 966190 
testis1 / 3304423
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: 207864_at
Cell line Expression level Expression bar
721_B_lymphoblasts7
Adipocyte6.15
AdrenalCortex7.6
Adrenalgland5.6
Amygdala6.4
Appendix7.25
AtrioventricularNode5.85
BDCA4+_DentriticCells6.2
Bonemarrow6.75
BronchialEpithelialCells6
CD105+_Endothelial6.2
CD14+_Monocytes6.65
CD19+_BCells(neg._sel.)6.45
CD33+_Myeloid7.7
CD34+7.45
CD4+_Tcells6.4
CD56+_NKCells7.1
CD71+_EarlyErythroid6.05
CD8+_Tcells5.65
CardiacMyocytes9.8
Caudatenucleus5.7
Cerebellum5.2
CerebellumPeduncles7.6
CiliaryGanglion5.25
CingulateCortex6.7
Colorectaladenocarcinoma6.25
DorsalRootGanglion6.05
FetalThyroid6.2
Fetalbrain6
Fetalliver5.6
Fetallung5.35
GlobusPallidus4.95
Heart9.6
Hypothalamus6.65
Kidney5.65
Leukemia_chronicMyelogenousK-5625.65
Leukemia_promyelocytic-HL-605.55
Leukemialymphoblastic(MOLT-4)4.85
Liver9.35
Lung6.8
Lymphnode5.25
Lymphoma_burkitts(Daudi)8.3
Lymphoma_burkitts(Raji)9.4
MedullaOblongata5.65
OccipitalLobe5.6
OlfactoryBulb5.15
Ovary4.6
Pancreas5.25
PancreaticIslet6.8
ParietalLobe7.05
Pituitary7.3
Placenta6.2
Pons6.25
PrefrontalCortex7.55
Prostate7.15
Salivarygland5.3
SkeletalMuscle8.95
Skin5.55
SmoothMuscle7.05
Spinalcord6.7
SubthalamicNucleus6.65
SuperiorCervicalGanglion8.85
TemporalLobe5.95
Testis5.35
TestisGermCell5.15
TestisIntersitial5.35
TestisLeydigCell6.5
TestisSeminiferousTubule5.45
Thalamus6.6
Thymus4.7
Thyroid7.55
Tongue6.8
Tonsil6.25
Trachea5.25
TrigeminalGanglion7.3
Uterus5
UterusCorpus6.15
WholeBlood6.8
Wholebrain5
colon6.3
pineal_day7.66
pineal_night7.52
retina7.625
small_intestine6
Allen Brain Atlas Top
Human Whole Brain Microarrayview in Allen Brain Atlas
  • Probe id     Donor id      
  • Probe name: CUST_10435_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
Amygdala2.29 ± 0.99
Basal Forebrain1.94 ± 0.42
Basal Part of Pons1.45 ± 0.39
Cerebellar Cortex1.78 ± 0.76
Cerebellar Nuclei2.18 ± 0.74
Claustrum3.15 ± 0.83
Epithalamus1.81 ± 0.8
Frontal Lobe1.8 ± 0.63
Globus Pallidus2.54 ± 0.38
Hypothalamus2.85 ± 0.53
Insula2.08 ± 0.78
Limbic Lobe1.88 ± 0.66
Mesencephalon2.27 ± 0.74
Myelencephalon2.05 ± 0.71
Occipital Lobe2.11 ± 0.85
Parietal Lobe2 ± 0.78
Pontine Tegmentum2.12 ± 0.7
Striatum2.17 ± 0.57
Subthalamus2.1 ± 0.74
Temporal Lobe1.84 ± 0.61
Thalamus1.96 ± 0.6
White Matter2.48 ± 0.31
Mouse Brain ISH
Gene Symbol Brain Structure ID Brain Structure Name Express Desity/Level (Meatured by ISH) Express Bar
Scn7aCBCerebellum3.57
3.84
Scn7aLSXLateral septal complex0.67
0.47
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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