AutismKB 2.0

Annotation Detail for SMPD3


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Basic Information Top
Gene Symbol:SMPD3 ( FLJ22593,MGC138443,NSMASE2 )
Gene Full Name: sphingomyelin phosphodiesterase 3, neutral membrane (neutral sphingomyelinase II)
Band: 16q22.1
Quick LinksEntrez ID:55512; OMIM: 605777; Uniprot ID:NSMA2_HUMAN; ENSEMBL ID: ENSG00000103056; HGNC ID: 14240
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
fetus10 / 56401217
neonate0 / 310970 
infant0 / 236200 
juvenile2 / 5555635
adult19 / 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) tumor0 / 941780 
cervical tumor0 / 343660 
chondrosarcoma2 / 8282324
colorectal tumor2 / 11424617
esophageal tumor0 / 172900 
gastrointestinal tumor2 / 11936916
germ cell tumor3 / 26384511
glioma0 / 1068830 
head and neck tumor0 / 1363020 
kidney tumor0 / 689590 
leukemia2 / 9584220
liver tumor0 / 963590 
lung tumor2 / 10312719
lymphoma0 / 717550 
non-neoplasia0 / 972500 
normal41 / 336030712
ovarian tumor0 / 766820 
pancreatic tumor0 / 1046160 
primitive neuroectodermal tumor of the CNS3 / 12568023
prostate cancer1 / 1026809
retinoblastoma0 / 463560 
skin tumor0 / 1249490 
soft tissue/muscle tissue tumor0 / 1251910 
uterine tumor1 / 9025711
Pool Name Gene EST/Total EST in pool Transcripts per million(TPM) Bar based on TPM
adipose tissue2 / 13106152
adrenal gland0 / 331970 
ascites1 / 4001524
bladder0 / 297570 
blood2 / 12347816
bone1 / 7165513
bone marrow0 / 488010 
brain14 / 110098912
cervix0 / 481710 
connective tissue1 / 1492556
ear0 / 162120 
embryonic tissue1 / 2157224
esophagus0 / 202090 
eye4 / 21105418
heart0 / 896260 
intestine5 / 23447221
kidney0 / 2117770 
larynx0 / 241450 
liver0 / 2077430 
lung6 / 33697417
lymph0 / 442700 
lymph node0 / 916100 
mammary gland1 / 1532716
mouth0 / 670520 
muscle1 / 1077159
nerve1 / 1576863
ovary1 / 1020519
pancreas1 / 2148124
parathyroid0 / 205390 
pharynx0 / 413280 
pituitary gland2 / 16585120
placenta0 / 2808250 
prostate1 / 1893455
salivary gland0 / 201550 
skin3 / 21057414
spleen0 / 539520 
stomach1 / 9661910
testis1 / 3304423
thymus16 / 81131197
thyroid0 / 474730 
tonsil0 / 169990 
trachea0 / 524130 
umbilical cord0 / 136800 
uterus1 / 2328784
vascular0 / 517800 
Microarray in BioGPS Top
Select probe  
  • Microarray Platform: GeneAtlas U133A, gcrma
  • Affymatrix Probe ID: 219695_at
Cell line Expression level Expression bar
721_B_lymphoblasts6.7
Adipocyte5.5
AdrenalCortex6.15
Adrenalgland4.75
Amygdala12.15
Appendix5.95
AtrioventricularNode7.9
BDCA4+_DentriticCells57
Bonemarrow5.6
BronchialEpithelialCells5.4
CD105+_Endothelial5.5
CD14+_Monocytes5.85
CD19+_BCells(neg._sel.)5.65
CD33+_Myeloid6.95
CD34+6.95
CD4+_Tcells5.95
CD56+_NKCells6.9
CD71+_EarlyErythroid5.2
CD8+_Tcells5.1
CardiacMyocytes7.55
Caudatenucleus9.35
Cerebellum4.5
CerebellumPeduncles6.35
CiliaryGanglion4.25
CingulateCortex6.15
Colorectaladenocarcinoma5.4
DorsalRootGanglion4.5
FetalThyroid5.4
Fetalbrain32.95
Fetalliver4.85
Fetallung4.55
GlobusPallidus4.5
Heart7.45
Hypothalamus5.95
Kidney4.7
Leukemia_chronicMyelogenousK-5625.05
Leukemia_promyelocytic-HL-604.95
Leukemialymphoblastic(MOLT-4)4.45
Liver7.7
Lung6
Lymphnode4.65
Lymphoma_burkitts(Daudi)7.15
Lymphoma_burkitts(Raji)7.95
MedullaOblongata5.15
OccipitalLobe5.05
OlfactoryBulb4.35
Ovary3.8
Pancreas4.5
PancreaticIslet5.95
ParietalLobe5.95
Pituitary6.55
Placenta5.55
Pons5.3
PrefrontalCortex6.9
Prostate6.6
Salivarygland4.45
SkeletalMuscle6.8
Skin5.35
SmoothMuscle6.25
Spinalcord5.9
SubthalamicNucleus5.1
SuperiorCervicalGanglion6.9
TemporalLobe5.1
Testis4.9
TestisGermCell4.6
TestisIntersitial4.65
TestisLeydigCell5.55
TestisSeminiferousTubule4.8
Thalamus5.7
Thymus34.1
Thyroid6.55
Tongue5.8
Tonsil5.4
Trachea4.65
TrigeminalGanglion6
Uterus4.55
UterusCorpus5.1
WholeBlood6.05
Wholebrain4.9
colon6.8
pineal_day6.66
pineal_night6.5
retina6.775
small_intestine8.15
Allen Brain Atlas Top
Human Whole Brain Microarrayview in Allen Brain Atlas
  • Probe id     Donor id      
  • Probe name: A_23_P347027
  • 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
Amygdala5.8 ± 0.9
Basal Forebrain5 ± 0.5
Basal Part of Pons4.87 ± 0.83
Cerebellar Cortex4.67 ± 0.29
Cerebellar Nuclei3.73 ± 0.48
Claustrum5.2 ± 0.67
Epithalamus3.59 ± 0.84
Frontal Lobe4.91 ± 0.55
Globus Pallidus3.82 ± 0.93
Hypothalamus4.1 ± 0.51
Insula4.78 ± 0.6
Limbic Lobe6.02 ± 0.86
Mesencephalon4.87 ± 0.83
Myelencephalon5.12 ± 0.81
Occipital Lobe6.22 ± 1.26
Parietal Lobe5.08 ± 0.58
Pontine Tegmentum5.01 ± 0.85
Striatum7.33 ± 0.87
Subthalamus4.15 ± 0.79
Temporal Lobe5.05 ± 0.48
Thalamus5.06 ± 0.73
White Matter2.06 ± 0.66
Mouse Brain ISH
Gene Symbol Brain Structure ID Brain Structure Name Express Desity/Level (Meatured by ISH) Express Bar
Smpd3CBCerebellum11.54
13.98
Smpd3CTXCerebral cortex100
100
Smpd3HIPHippocampal region91.74
100
Smpd3HPFHippocampal formation99.17
100
Smpd3HYHypothalamus34.16
35.46
Smpd3LSXLateral septal complex96.76
94.37
Smpd3MBMidbrain21.01
20.83
Smpd3MYMedulla27.32
33.09
Smpd3OLFOlfactory bulb88.07
85.34
Smpd3PPons19.68
23.59
Smpd3PALPallidum35.44
36.76
Smpd3RHPRetrohippocampal region100
100
Smpd3sAMYStriatum-like amygdalar nuclei73.93
65.79
Smpd3STRStriatum100
100
Smpd3STRdStriatum dorsal region100
100
Smpd3STRvStriatum ventral region100
100
Smpd3THThalamus44.35
46.65
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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