AutismKB 2.0

Annotation Detail for SNRPD3


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Basic Information Top
Gene Symbol:SNRPD3 ( SMD3,Sm-D3 )
Gene Full Name: small nuclear ribonucleoprotein D3 polypeptide 18kDa
Band: 22q11.23
Quick LinksEntrez ID:6634; OMIM: 601062; Uniprot ID:SMD3_HUMAN; ENSEMBL ID: ENSG00000100028; HGNC ID: 11160
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 body6 / 7076184
blastocyst3 / 6231948
fetus35 / 56401262
neonate0 / 310970 
infant0 / 236200 
juvenile5 / 5555689
adult95 / 193912148
Pool Name Gene EST/Total EST in pool Transcripts per million(TPM) Bar based on TPM
adrenal tumor1 / 1279478
bladder carcinoma2 / 17475114
breast (mammary gland) tumor7 / 9417874
cervical tumor1 / 3436629
chondrosarcoma6 / 8282372
colorectal tumor8 / 11424670
esophageal tumor1 / 1729057
gastrointestinal tumor4 / 11936933
germ cell tumor10 / 26384537
glioma8 / 10688374
head and neck tumor6 / 13630244
kidney tumor1 / 6895914
leukemia8 / 9584283
liver tumor14 / 96359145
lung tumor12 / 103127116
lymphoma12 / 71755167
non-neoplasia1 / 9725010
normal147 / 336030743
ovarian tumor8 / 76682104
pancreatic tumor1 / 1046169
primitive neuroectodermal tumor of the CNS7 / 12568055
prostate cancer5 / 10268048
retinoblastoma3 / 4635664
skin tumor9 / 12494972
soft tissue/muscle tissue tumor14 / 125191111
uterine tumor7 / 9025777
Pool Name Gene EST/Total EST in pool Transcripts per million(TPM) Bar based on TPM
adipose tissue1 / 1310676
adrenal gland1 / 3319730
ascites3 / 4001574
bladder0 / 297570 
blood7 / 12347856
bone5 / 7165569
bone marrow3 / 4880161
brain36 / 110098932
cervix1 / 4817120
connective tissue0 / 1492550 
ear0 / 162120 
embryonic tissue20 / 21572292
esophagus1 / 2020949
eye12 / 21105456
heart9 / 89626100
intestine15 / 23447263
kidney4 / 21177718
larynx2 / 2414582
liver17 / 20774381
lung24 / 33697471
lymph8 / 44270180
lymph node4 / 9161043
mammary gland10 / 15327165
mouth2 / 6705229
muscle6 / 10771555
nerve2 / 15768126
ovary9 / 10205188
pancreas14 / 21481265
parathyroid4 / 20539194
pharynx1 / 4132824
pituitary gland0 / 165850 
placenta6 / 28082521
prostate10 / 18934552
salivary gland0 / 201550 
skin13 / 21057461
spleen0 / 539520 
stomach3 / 9661931
testis9 / 33044227
thymus4 / 8113149
thyroid3 / 4747363
tonsil0 / 169990 
trachea1 / 5241319
umbilical cord0 / 136800 
uterus16 / 23287868
vascular2 / 5178038
Microarray in BioGPS Top
Select probe  
  • Microarray Platform: GeneAtlas U133A, gcrma
  • Affymatrix Probe ID: 202567_at
Cell line Expression level Expression bar
721_B_lymphoblasts1603.4
Adipocyte210.85
AdrenalCortex70.7
Adrenalgland142.75
Amygdala89.35
Appendix31.05
AtrioventricularNode41.8
BDCA4+_DentriticCells989.3
Bonemarrow151.65
BronchialEpithelialCells688.2
CD105+_Endothelial1445.25
CD14+_Monocytes782.95
CD19+_BCells(neg._sel.)1272.4
CD33+_Myeloid886.35
CD34+1690.2
CD4+_Tcells678.5
CD56+_NKCells1395.5
CD71+_EarlyErythroid743.35
CD8+_Tcells745.8
CardiacMyocytes240.05
Caudatenucleus37.2
Cerebellum31.75
CerebellumPeduncles80.25
CiliaryGanglion12.35
CingulateCortex66.95
Colorectaladenocarcinoma142.85
DorsalRootGanglion38.8
FetalThyroid290.9
Fetalbrain161.35
Fetalliver203.55
Fetallung381.6
GlobusPallidus26.65
Heart64.45
Hypothalamus202.85
Kidney95.15
Leukemia_chronicMyelogenousK-562390.4
Leukemia_promyelocytic-HL-60599.4
Leukemialymphoblastic(MOLT-4)668.5
Liver91.45
Lung138.35
Lymphnode257.45
Lymphoma_burkitts(Daudi)787.35
Lymphoma_burkitts(Raji)142.55
MedullaOblongata44.5
OccipitalLobe73.05
OlfactoryBulb142.55
Ovary93.9
Pancreas129.5
PancreaticIslet223.55
ParietalLobe25.45
Pituitary231.55
Placenta248.55
Pons16.05
PrefrontalCortex68.45
Prostate137.25
Salivarygland117.7
SkeletalMuscle64.25
Skin59.45
SmoothMuscle726.6
Spinalcord125.9
SubthalamicNucleus15.65
SuperiorCervicalGanglion32.1
TemporalLobe18.4
Testis236.35
TestisGermCell266.45
TestisIntersitial128.85
TestisLeydigCell138.2
TestisSeminiferousTubule157.1
Thalamus111.65
Thymus410.75
Thyroid331.45
Tongue179.1
Tonsil335.3
Trachea134.6
TrigeminalGanglion15.95
Uterus126.5
UterusCorpus36.2
WholeBlood364.65
Wholebrain49.15
colon378.45
pineal_day513.58
pineal_night468.88
retina212.5
small_intestine506.65
Allen Brain Atlas Top
Human Whole Brain Microarrayview in Allen Brain Atlas
  • Probe id     Donor id      
  • Probe name: CUST_15337_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
Amygdala7.77 ± 0.29
Basal Forebrain7.49 ± 0.25
Basal Part of Pons7.51 ± 0.15
Cerebellar Cortex7.57 ± 0.25
Cerebellar Nuclei7.61 ± 0.35
Claustrum7.73 ± 0.35
Epithalamus7.64 ± 0.3
Frontal Lobe7.5 ± 0.26
Globus Pallidus7.77 ± 0.16
Hypothalamus7.75 ± 0.18
Insula7.53 ± 0.19
Limbic Lobe7.52 ± 0.23
Mesencephalon7.56 ± 0.26
Myelencephalon7.56 ± 0.25
Occipital Lobe7.54 ± 0.26
Parietal Lobe7.53 ± 0.26
Pontine Tegmentum7.61 ± 0.31
Striatum7.49 ± 0.24
Subthalamus7.57 ± 0.03
Temporal Lobe7.6 ± 0.24
Thalamus7.5 ± 0.19
White Matter8.12 ± 0.05
Mouse Brain ISH
Gene Symbol Brain Structure ID Brain Structure Name Express Desity/Level (Meatured by ISH) Express Bar
Snrpd3CBCerebellum9.32
10.54
Snrpd3CTXCerebral cortex19.73
15.57
Snrpd3HIPHippocampal region15.29
16.25
Snrpd3HPFHippocampal formation14.61
13.71
Snrpd3HYHypothalamus3.19
2.62
Snrpd3LSXLateral septal complex7.48
5.33
Snrpd3MBMidbrain7.53
7.37
Snrpd3MYMedulla12.95
15.83
Snrpd3OLFOlfactory bulb11.25
8.91
Snrpd3PPons9.52
10.63
Snrpd3PALPallidum2.81
2.62
Snrpd3RHPRetrohippocampal region13.42
10.12
Snrpd3sAMYStriatum-like amygdalar nuclei4.14
3.54
Snrpd3STRStriatum4.11
3.3
Snrpd3STRdStriatum dorsal region3
2.67
Snrpd3STRvStriatum ventral region6.12
4.05
Snrpd3THThalamus9.21
9.61
Peptide Top
Peptide Name Peptide Lengh Peptide Start Peptide End Peptide Sequence Source
PAp00002489 9 70 78 FLILPDMLK Peptide Atlas
SMD3_HUMAN_2 15 2 16 SIGVPIKVLHEAEGH PRIDE
SMD3_HUMAN_2 28 2 29 SIGVPIKVLHEAEGHIVTCETNTGEVYR PRIDE
SMD3_HUMAN_54 10 54 63 VAQLEQVYIR PRIDE
SMD3_HUMAN_70 9 70 78 FLILPDMLK PRIDE
SMD3_HUMAN_8 21 8 28 VLHEAEGHIVTCETNTGEVYR PRIDE

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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