AutismKB 2.0

Annotation Detail for SMPD1


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Basic Information Top
Gene Symbol:SMPD1 ( ASM,ASMASE,NPD )
Gene Full Name: sphingomyelin phosphodiesterase 1, acid lysosomal
Band: 11p15.4
Quick LinksEntrez ID:6609; OMIM: 607608; Uniprot ID:ASM_HUMAN; ENSEMBL ID: ENSG00000166311; HGNC ID: 11120
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 body1 / 7076114
blastocyst0 / 623190 
fetus24 / 56401242
neonate0 / 310970 
infant0 / 236200 
juvenile1 / 5555617
adult126 / 193912164
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) tumor3 / 9417831
cervical tumor1 / 3436629
chondrosarcoma9 / 82823108
colorectal tumor3 / 11424626
esophageal tumor0 / 172900 
gastrointestinal tumor7 / 11936958
germ cell tumor3 / 26384511
glioma9 / 10688384
head and neck tumor3 / 13630222
kidney tumor4 / 6895958
leukemia1 / 9584210
liver tumor7 / 9635972
lung tumor5 / 10312748
lymphoma0 / 717550 
non-neoplasia5 / 9725051
normal169 / 336030750
ovarian tumor3 / 7668239
pancreatic tumor6 / 10461657
primitive neuroectodermal tumor of the CNS0 / 1256800 
prostate cancer5 / 10268048
retinoblastoma0 / 463560 
skin tumor5 / 12494940
soft tissue/muscle tissue tumor2 / 12519115
uterine tumor1 / 9025711
Pool Name Gene EST/Total EST in pool Transcripts per million(TPM) Bar based on TPM
adipose tissue1 / 1310676
adrenal gland0 / 331970 
ascites3 / 4001574
bladder0 / 297570 
blood5 / 12347840
bone12 / 71655167
bone marrow0 / 488010 
brain70 / 110098963
cervix1 / 4817120
connective tissue6 / 14925540
ear0 / 162120 
embryonic tissue2 / 2157229
esophagus0 / 202090 
eye16 / 21105475
heart4 / 8962644
intestine9 / 23447238
kidney8 / 21177737
larynx0 / 241450 
liver8 / 20774338
lung18 / 33697453
lymph0 / 442700 
lymph node0 / 916100 
mammary gland5 / 15327132
mouth0 / 670520 
muscle1 / 1077159
nerve2 / 15768126
ovary9 / 10205188
pancreas12 / 21481255
parathyroid6 / 20539292
pharynx1 / 4132824
pituitary gland1 / 1658560
placenta24 / 28082585
prostate9 / 18934547
salivary gland0 / 201550 
skin10 / 21057447
spleen0 / 539520 
stomach1 / 9661910
testis12 / 33044236
thymus1 / 8113112
thyroid2 / 4747342
tonsil1 / 1699958
trachea0 / 524130 
umbilical cord0 / 136800 
uterus2 / 2328788
vascular1 / 5178019
Microarray in BioGPS Top
Select probe  
  • Microarray Platform: GeneAtlas U133A, gcrma
  • Affymatrix Probe ID: 209420_s_at
Cell line Expression level Expression bar
721_B_lymphoblasts11.9
Adipocyte18.05
AdrenalCortex12.35
Adrenalgland11.2
Amygdala15.85
Appendix9.9
AtrioventricularNode8.1
BDCA4+_DentriticCells11.45
Bonemarrow11.75
BronchialEpithelialCells10.35
CD105+_Endothelial9.05
CD14+_Monocytes10.6
CD19+_BCells(neg._sel.)11.85
CD33+_Myeloid12.6
CD34+12.55
CD4+_Tcells18.95
CD56+_NKCells15.6
CD71+_EarlyErythroid11.05
CD8+_Tcells26.85
CardiacMyocytes21.15
Caudatenucleus11.7
Cerebellum15.5
CerebellumPeduncles21.35
CiliaryGanglion8.45
CingulateCortex12.25
Colorectaladenocarcinoma10.05
DorsalRootGanglion10.7
FetalThyroid13.05
Fetalbrain11.6
Fetalliver10.2
Fetallung9.85
GlobusPallidus8.6
Heart26.25
Hypothalamus17.1
Kidney26.45
Leukemia_chronicMyelogenousK-5628.9
Leukemia_promyelocytic-HL-608.85
Leukemialymphoblastic(MOLT-4)7.7
Liver45.95
Lung24.55
Lymphnode10.95
Lymphoma_burkitts(Daudi)12.8
Lymphoma_burkitts(Raji)15.2
MedullaOblongata10.7
OccipitalLobe12.5
OlfactoryBulb10.85
Ovary7.05
Pancreas9.55
PancreaticIslet29.25
ParietalLobe14.1
Pituitary17.45
Placenta28.8
Pons9.75
PrefrontalCortex16.7
Prostate28
Salivarygland8.85
SkeletalMuscle13.25
Skin8.2
SmoothMuscle25.2
Spinalcord26.4
SubthalamicNucleus10.85
SuperiorCervicalGanglion12.95
TemporalLobe10.8
Testis10.55
TestisGermCell9.9
TestisIntersitial9.9
TestisLeydigCell9.75
TestisSeminiferousTubule9.5
Thalamus16.4
Thymus9.7
Thyroid31.6
Tongue11.25
Tonsil11.3
Trachea10
TrigeminalGanglion11.45
Uterus9.35
UterusCorpus10.45
WholeBlood12.9
Wholebrain13.85
colon9.7
pineal_day19.38
pineal_night19.1
retina17.5
small_intestine9.55
Allen Brain Atlas Top
Human Whole Brain Microarrayview in Allen Brain Atlas
  • Probe id     Donor id      
  • Probe name: CUST_15877_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
Amygdala4.34 ± 0.63
Basal Forebrain4.25 ± 0.53
Basal Part of Pons4.78 ± 0.58
Cerebellar Cortex4.94 ± 0.5
Cerebellar Nuclei4.67 ± 0.46
Claustrum3.84 ± 0.84
Epithalamus4.49 ± 0.55
Frontal Lobe4.8 ± 0.49
Globus Pallidus4.34 ± 0.31
Hypothalamus4.85 ± 0.55
Insula4.74 ± 0.42
Limbic Lobe4.36 ± 0.65
Mesencephalon4.46 ± 0.62
Myelencephalon4.48 ± 0.68
Occipital Lobe3.87 ± 0.55
Parietal Lobe4.41 ± 0.54
Pontine Tegmentum4.53 ± 0.6
Striatum3.91 ± 0.54
Subthalamus4.73 ± 0.3
Temporal Lobe4.65 ± 0.51
Thalamus4.67 ± 0.57
White Matter5.56 ± 0.46
Mouse Brain ISH
Gene Symbol Brain Structure ID Brain Structure Name Express Desity/Level (Meatured by ISH) Express Bar
Smpd1CBCerebellum28.47
67.54
Smpd1CTXCerebral cortex100
68.09
Smpd1HIPHippocampal region39.99
47.77
Smpd1HPFHippocampal formation57.27
51.26
Smpd1HYHypothalamus42.99
19.25
Smpd1LSXLateral septal complex20.49
8.1
Smpd1MBMidbrain35.51
19.57
Smpd1MYMedulla52.32
39.52
Smpd1OLFOlfactory bulb82.03
59.89
Smpd1PPons45.83
28.62
Smpd1PALPallidum45.29
25.62
Smpd1RHPRetrohippocampal region87.6
58.46
Smpd1sAMYStriatum-like amygdalar nuclei51.34
19.27
Smpd1STRStriatum24.35
11.4
Smpd1STRdStriatum dorsal region18.61
9.86
Smpd1STRvStriatum ventral region31.51
13
Smpd1THThalamus48.36
23.53
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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