AutismKB 2.0

Annotation Detail for SMPD4


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Basic Information Top
Gene Symbol:SMPD4 ( FLJ20297,FLJ20756,KIAA1418,NET13,NSMASE-3,NSMASE3 )
Gene Full Name: sphingomyelin phosphodiesterase 4, neutral membrane (neutral sphingomyelinase-3)
Band: 2q21.1
Quick LinksEntrez ID:55627; OMIM: 610457; Uniprot ID:NSMA3_HUMAN; ENSEMBL ID: ENSG00000136699; HGNC ID: 32949
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 body18 / 70761254
blastocyst8 / 62319128
fetus50 / 56401288
neonate2 / 3109764
infant0 / 236200 
juvenile10 / 55556179
adult202 / 1939121104
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) tumor12 / 94178127
cervical tumor4 / 34366116
chondrosarcoma7 / 8282384
colorectal tumor14 / 114246122
esophageal tumor1 / 1729057
gastrointestinal tumor25 / 119369209
germ cell tumor90 / 263845341
glioma7 / 10688365
head and neck tumor23 / 136302168
kidney tumor10 / 68959145
leukemia17 / 95842177
liver tumor16 / 96359166
lung tumor14 / 103127135
lymphoma20 / 71755278
non-neoplasia5 / 9725051
normal306 / 336030791
ovarian tumor6 / 7668278
pancreatic tumor13 / 104616124
primitive neuroectodermal tumor of the CNS23 / 125680183
prostate cancer20 / 102680194
retinoblastoma3 / 4635664
skin tumor23 / 124949184
soft tissue/muscle tissue tumor16 / 125191127
uterine tumor6 / 9025766
Pool Name Gene EST/Total EST in pool Transcripts per million(TPM) Bar based on TPM
adipose tissue1 / 1310676
adrenal gland1 / 3319730
ascites8 / 40015199
bladder0 / 297570 
blood23 / 123478186
bone3 / 7165541
bone marrow1 / 4880120
brain163 / 1100989148
cervix8 / 48171166
connective tissue8 / 14925553
ear1 / 1621261
embryonic tissue34 / 215722157
esophagus1 / 2020949
eye6 / 21105428
heart4 / 8962644
intestine23 / 23447298
kidney19 / 21177789
larynx0 / 241450 
liver21 / 207743101
lung25 / 33697474
lymph9 / 44270203
lymph node11 / 91610120
mammary gland15 / 15327197
mouth14 / 67052208
muscle10 / 10771592
nerve2 / 15768126
ovary6 / 10205158
pancreas15 / 21481269
parathyroid0 / 205390 
pharynx0 / 413280 
pituitary gland2 / 16585120
placenta27 / 28082596
prostate22 / 189345116
salivary gland5 / 20155248
skin26 / 210574123
spleen5 / 5395292
stomach13 / 96619134
testis124 / 330442375
thymus23 / 81131283
thyroid5 / 47473105
tonsil1 / 1699958
trachea24 / 52413457
umbilical cord0 / 136800 
uterus38 / 232878163
vascular5 / 5178096
Microarray in BioGPS Top
Select probe  
  • Microarray Platform: GeneAtlas U133A, gcrma
  • Affymatrix Probe ID: 207856_s_at
Cell line Expression level Expression bar
721_B_lymphoblasts559.5
Adipocyte57.9
AdrenalCortex51.75
Adrenalgland45.3
Amygdala125.65
Appendix33.8
AtrioventricularNode22.7
BDCA4+_DentriticCells172.1
Bonemarrow56.25
BronchialEpithelialCells84.8
CD105+_Endothelial262.6
CD14+_Monocytes84.8
CD19+_BCells(neg._sel.)136.3
CD33+_Myeloid83.05
CD34+225.85
CD4+_Tcells241.85
CD56+_NKCells144.1
CD71+_EarlyErythroid329.45
CD8+_Tcells291.7
CardiacMyocytes80.35
Caudatenucleus64.1
Cerebellum43.6
CerebellumPeduncles55.25
CiliaryGanglion33.25
CingulateCortex63.55
Colorectaladenocarcinoma246.95
DorsalRootGanglion36.4
FetalThyroid118.45
Fetalbrain122.85
Fetalliver47.8
Fetallung61.85
GlobusPallidus39.75
Heart43.85
Hypothalamus147.85
Kidney37.5
Leukemia_chronicMyelogenousK-562155.65
Leukemia_promyelocytic-HL-6057.35
Leukemialymphoblastic(MOLT-4)193.55
Liver51.75
Lung161.25
Lymphnode68.35
Lymphoma_burkitts(Daudi)177.65
Lymphoma_burkitts(Raji)231.65
MedullaOblongata53.15
OccipitalLobe69.35
OlfactoryBulb51.65
Ovary35.6
Pancreas57.95
PancreaticIslet81.7
ParietalLobe56.9
Pituitary78.3
Placenta119.05
Pons47.95
PrefrontalCortex126.2
Prostate180.45
Salivarygland44.15
SkeletalMuscle34.4
Skin25.35
SmoothMuscle73.85
Spinalcord90.55
SubthalamicNucleus50.2
SuperiorCervicalGanglion61.05
TemporalLobe35.1
Testis153.7
TestisGermCell160.1
TestisIntersitial73
TestisLeydigCell67.7
TestisSeminiferousTubule98.8
Thalamus70.6
Thymus175.9
Thyroid311.05
Tongue47.15
Tonsil64.3
Trachea38.25
TrigeminalGanglion49
Uterus147.1
UterusCorpus42.95
WholeBlood37.7
Wholebrain64.7
colon59.55
pineal_day210.86
pineal_night120.08
retina134.125
small_intestine61
Allen Brain Atlas Top
Human Whole Brain Microarrayview in Allen Brain Atlas
  • Probe id     Donor id      
  • Probe name: A_24_P6949
  • 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
Amygdala9.21 ± 0.56
Basal Forebrain9.33 ± 0.07
Basal Part of Pons9.5 ± 0.57
Cerebellar Cortex9.17 ± 0.4
Cerebellar Nuclei9.02 ± 0.43
Claustrum8.99 ± 0.84
Epithalamus9.43 ± 0.33
Frontal Lobe9.37 ± 0.45
Globus Pallidus9.15 ± 0.61
Hypothalamus9.68 ± 0.35
Insula9.49 ± 0.39
Limbic Lobe9.04 ± 0.61
Mesencephalon9.09 ± 0.45
Myelencephalon9.13 ± 0.53
Occipital Lobe8.58 ± 0.56
Parietal Lobe9.2 ± 0.47
Pontine Tegmentum9.23 ± 0.47
Striatum8.71 ± 0.5
Subthalamus9.49 ± 0.43
Temporal Lobe9.45 ± 0.45
Thalamus9.05 ± 0.39
White Matter8.63 ± 0.25
Mouse Brain ISH
Gene Symbol Brain Structure ID Brain Structure Name Express Desity/Level (Meatured by ISH) Express Bar
Smpd4CBCerebellum23.87
17.27
Smpd4CTXCerebral cortex100
84.16
Smpd4HIPHippocampal region60.68
51.75
Smpd4HPFHippocampal formation93.51
63.05
Smpd4HYHypothalamus43.39
13.7
Smpd4LSXLateral septal complex49.6
16.87
Smpd4MBMidbrain52.52
23.13
Smpd4MYMedulla59.07
30.54
Smpd4OLFOlfactory bulb100
77.34
Smpd4PPons60.52
30.26
Smpd4PALPallidum41.62
14.4
Smpd4RHPRetrohippocampal region100
74.11
Smpd4sAMYStriatum-like amygdalar nuclei86.66
29.83
Smpd4STRStriatum51.61
17.04
Smpd4STRdStriatum dorsal region43.31
14.05
Smpd4STRvStriatum ventral region63.25
20.64
Smpd4THThalamus64.28
26.2
Peptide Top
Peptide Name Peptide Lengh Peptide Start Peptide End Peptide Sequence Source
PAp00042887 18 260 277 TPAIPFASYGLHHTSLLK 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


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