AutismKB 2.0

Annotation Detail for SCNN1D


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Basic Information Top
Gene Symbol:SCNN1D ( ENaCd,ENaCdelta,MGC149710,MGC149711,SCNED,dNaCh )
Gene Full Name: sodium channel, nonvoltage-gated 1, delta
Band: 1p36.33
Quick LinksEntrez ID:6339; OMIM: 601328; Uniprot ID:SCNND_HUMAN; ENSEMBL ID: ENSG00000162572; HGNC ID: 10601
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 
fetus6 / 56401210
neonate0 / 310970 
infant0 / 236200 
juvenile0 / 555560 
adult18 / 19391219
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 
chondrosarcoma1 / 8282312
colorectal tumor0 / 1142460 
esophageal tumor0 / 172900 
gastrointestinal tumor1 / 1193698
germ cell tumor2 / 2638457
glioma2 / 10688318
head and neck tumor0 / 1363020 
kidney tumor0 / 689590 
leukemia2 / 9584220
liver tumor0 / 963590 
lung tumor2 / 10312719
lymphoma0 / 717550 
non-neoplasia0 / 972500 
normal51 / 336030715
ovarian tumor1 / 7668213
pancreatic tumor0 / 1046160 
primitive neuroectodermal tumor of the CNS0 / 1256800 
prostate cancer0 / 1026800 
retinoblastoma0 / 463560 
skin tumor2 / 12494916
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 
bone1 / 7165513
bone marrow0 / 488010 
brain20 / 110098918
cervix0 / 481710 
connective tissue0 / 1492550 
ear0 / 162120 
embryonic tissue1 / 2157224
esophagus0 / 202090 
eye1 / 2110544
heart1 / 8962611
intestine0 / 2344720 
kidney1 / 2117774
larynx0 / 241450 
liver0 / 2077430 
lung4 / 33697411
lymph0 / 442700 
lymph node0 / 916100 
mammary gland2 / 15327113
mouth0 / 670520 
muscle0 / 1077150 
nerve0 / 157680 
ovary2 / 10205119
pancreas7 / 21481232
parathyroid0 / 205390 
pharynx0 / 413280 
pituitary gland0 / 165850 
placenta2 / 2808257
prostate0 / 1893450 
salivary gland0 / 201550 
skin2 / 2105749
spleen1 / 5395218
stomach1 / 9661910
testis14 / 33044242
thymus1 / 8113112
thyroid0 / 474730 
tonsil0 / 169990 
trachea0 / 524130 
umbilical cord0 / 136800 
uterus0 / 2328780 
vascular0 / 517800 
Microarray in BioGPS Top
Select probe  
  • Microarray Platform: GeneAtlas U133A, gcrma
  • Affymatrix Probe ID: 208458_at
Cell line Expression level Expression bar
721_B_lymphoblasts4.35
Adipocyte3.4
AdrenalCortex3.5
Adrenalgland2.85
Amygdala3.65
Appendix3.45
AtrioventricularNode2.6
BDCA4+_DentriticCells3.8
Bonemarrow3.4
BronchialEpithelialCells3.4
CD105+_Endothelial3.4
CD14+_Monocytes3.7
CD19+_BCells(neg._sel.)3.7
CD33+_Myeloid4.4
CD34+4.35
CD4+_Tcells3.8
CD56+_NKCells4.15
CD71+_EarlyErythroid3.25
CD8+_Tcells3.4
CardiacMyocytes4.25
Caudatenucleus3.05
Cerebellum2.8
CerebellumPeduncles3.85
CiliaryGanglion2.4
CingulateCortex3.55
Colorectaladenocarcinoma3.4
DorsalRootGanglion2.6
FetalThyroid3.35
Fetalbrain3.45
Fetalliver2.95
Fetallung2.85
GlobusPallidus2.5
Heart4.35
Hypothalamus3.8
Kidney2.75
Leukemia_chronicMyelogenousK-5623.1
Leukemia_promyelocytic-HL-603
Leukemialymphoblastic(MOLT-4)2.8
Liver4.5
Lung3.8
Lymphnode2.95
Lymphoma_burkitts(Daudi)4.35
Lymphoma_burkitts(Raji)4.8
MedullaOblongata3.15
OccipitalLobe3.1
OlfactoryBulb2.7
Ovary2.25
Pancreas2.75
PancreaticIslet3.7
ParietalLobe3.65
Pituitary4
Placenta3.55
Pons3.25
PrefrontalCortex4.35
Prostate4.1
Salivarygland2.7
SkeletalMuscle4.15
Skin2.55
SmoothMuscle3.9
Spinalcord3.65
SubthalamicNucleus3.05
SuperiorCervicalGanglion3.85
TemporalLobe3.1
Testis3
TestisGermCell2.9
TestisIntersitial2.85
TestisLeydigCell3.35
TestisSeminiferousTubule2.95
Thalamus3.45
Thymus2.75
Thyroid4.3
Tongue3.3
Tonsil3.35
Trachea2.9
TrigeminalGanglion3.35
Uterus2.8
UterusCorpus3.05
WholeBlood3.8
Wholebrain2.95
colon3.45
pineal_day4.32
pineal_night4.22
retina4.175
small_intestine3.35
Allen Brain Atlas Top
Human Whole Brain Microarrayview in Allen Brain Atlas
  • Probe id     Donor id      
  • Probe name: CUST_13070_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
Amygdala2.19 ± 1.05
Basal Forebrain1.81 ± 0.27
Basal Part of Pons1.41 ± 0.36
Cerebellar Cortex1.66 ± 0.75
Cerebellar Nuclei2.03 ± 0.7
Claustrum2.67 ± 0.92
Epithalamus1.44 ± 0.62
Frontal Lobe1.55 ± 0.6
Globus Pallidus2.26 ± 0.48
Hypothalamus2.14 ± 1.37
Insula1.64 ± 0.51
Limbic Lobe1.75 ± 0.64
Mesencephalon1.87 ± 0.64
Myelencephalon1.76 ± 0.66
Occipital Lobe1.82 ± 0.82
Parietal Lobe1.81 ± 0.73
Pontine Tegmentum1.79 ± 0.71
Striatum1.82 ± 0.57
Subthalamus1.83 ± 0.55
Temporal Lobe1.62 ± 0.6
Thalamus1.68 ± 0.56
White Matter2.2 ± 0.4
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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