AutismKB 2.0

Annotation Detail for STXBP3


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Basic Information Top
Gene Symbol:STXBP3 ( MUNC18-3,MUNC18C,PSP,UNC-18C )
Gene Full Name: syntaxin binding protein 3
Band: 1p13.3
Quick LinksEntrez ID:6814; OMIM: 608339; Uniprot ID:STXB3_HUMAN; ENSEMBL ID: ENSG00000116266; HGNC ID: 11446
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 body4 / 7076156
blastocyst1 / 6231916
fetus10 / 56401217
neonate5 / 31097160
infant1 / 2362042
juvenile2 / 5555635
adult93 / 193912147
Pool Name Gene EST/Total EST in pool Transcripts per million(TPM) Bar based on TPM
adrenal tumor0 / 127940 
bladder carcinoma5 / 17475286
breast (mammary gland) tumor3 / 9417831
cervical tumor1 / 3436629
chondrosarcoma3 / 8282336
colorectal tumor4 / 11424635
esophageal tumor1 / 1729057
gastrointestinal tumor4 / 11936933
germ cell tumor12 / 26384545
glioma1 / 1068839
head and neck tumor3 / 13630222
kidney tumor7 / 68959101
leukemia2 / 9584220
liver tumor3 / 9635931
lung tumor0 / 1031270 
lymphoma1 / 7175513
non-neoplasia3 / 9725030
normal156 / 336030746
ovarian tumor6 / 7668278
pancreatic tumor4 / 10461638
primitive neuroectodermal tumor of the CNS5 / 12568039
prostate cancer9 / 10268087
retinoblastoma1 / 4635621
skin tumor6 / 12494948
soft tissue/muscle tissue tumor6 / 12519147
uterine tumor8 / 9025788
Pool Name Gene EST/Total EST in pool Transcripts per million(TPM) Bar based on TPM
adipose tissue1 / 1310676
adrenal gland0 / 331970 
ascites1 / 4001524
bladder4 / 29757134
blood6 / 12347848
bone1 / 7165513
bone marrow3 / 4880161
brain59 / 110098953
cervix1 / 4817120
connective tissue8 / 14925553
ear0 / 162120 
embryonic tissue8 / 21572237
esophagus1 / 2020949
eye8 / 21105437
heart2 / 8962622
intestine6 / 23447225
kidney17 / 21177780
larynx0 / 241450 
liver13 / 20774362
lung6 / 33697417
lymph0 / 442700 
lymph node4 / 9161043
mammary gland9 / 15327158
mouth3 / 6705244
muscle3 / 10771527
nerve0 / 157680 
ovary6 / 10205158
pancreas11 / 21481251
parathyroid1 / 2053948
pharynx3 / 4132872
pituitary gland3 / 16585180
placenta3 / 28082510
prostate9 / 18934547
salivary gland2 / 2015599
skin10 / 21057447
spleen1 / 5395218
stomach3 / 9661931
testis9 / 33044227
thymus8 / 8113198
thyroid1 / 4747321
tonsil0 / 169990 
trachea4 / 5241376
umbilical cord0 / 136800 
uterus13 / 23287855
vascular5 / 5178096
Microarray in BioGPS Top
Select probe  
  • Microarray Platform: GeneAtlas U133A, gcrma
  • Affymatrix Probe ID: 203310_at
Cell line Expression level Expression bar
721_B_lymphoblasts25.45
Adipocyte19.3
AdrenalCortex19.6
Adrenalgland20.15
Amygdala114.2
Appendix31.35
AtrioventricularNode24.5
BDCA4+_DentriticCells22.7
Bonemarrow25.5
BronchialEpithelialCells25.9
CD105+_Endothelial22.5
CD14+_Monocytes36.5
CD19+_BCells(neg._sel.)32.75
CD33+_Myeloid50.1
CD34+51.65
CD4+_Tcells27.75
CD56+_NKCells44.55
CD71+_EarlyErythroid23.55
CD8+_Tcells58
CardiacMyocytes34.45
Caudatenucleus22.5
Cerebellum17.45
CerebellumPeduncles26.2
CiliaryGanglion12.9
CingulateCortex28.6
Colorectaladenocarcinoma28.45
DorsalRootGanglion21.8
FetalThyroid31.05
Fetalbrain21.2
Fetalliver31.15
Fetallung20.2
GlobusPallidus19.45
Heart32.8
Hypothalamus57.25
Kidney17.75
Leukemia_chronicMyelogenousK-56220.35
Leukemia_promyelocytic-HL-6021.2
Leukemialymphoblastic(MOLT-4)17.55
Liver31.05
Lung22
Lymphnode30.15
Lymphoma_burkitts(Daudi)30.3
Lymphoma_burkitts(Raji)35.75
MedullaOblongata21.4
OccipitalLobe26.65
OlfactoryBulb18.05
Ovary18.4
Pancreas20.75
PancreaticIslet29.75
ParietalLobe30.9
Pituitary29.55
Placenta14.4
Pons26.65
PrefrontalCortex44
Prostate25.05
Salivarygland20.05
SkeletalMuscle30.95
Skin23.25
SmoothMuscle24.85
Spinalcord91.85
SubthalamicNucleus24.25
SuperiorCervicalGanglion32.4
TemporalLobe23.5
Testis11.9
TestisGermCell18.35
TestisIntersitial19.85
TestisLeydigCell22.7
TestisSeminiferousTubule18.25
Thalamus27.55
Thymus13.1
Thyroid129.85
Tongue23.05
Tonsil22.95
Trachea22.7
TrigeminalGanglion33.25
Uterus55.2
UterusCorpus22.5
WholeBlood113.45
Wholebrain20.6
colon37.8
pineal_day70
pineal_night76.28
retina32.025
small_intestine25.4
Allen Brain Atlas Top
Human Whole Brain Microarrayview in Allen Brain Atlas
  • Probe id     Donor id      
  • Probe name: CUST_11243_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
Amygdala8.8 ± 0.4
Basal Forebrain8.98 ± 0.27
Basal Part of Pons8.65 ± 0.31
Cerebellar Cortex8.77 ± 0.21
Cerebellar Nuclei9.36 ± 0.41
Claustrum8.78 ± 0.68
Epithalamus9.23 ± 0.28
Frontal Lobe8.81 ± 0.41
Globus Pallidus9.68 ± 0.21
Hypothalamus8.9 ± 0.23
Insula8.74 ± 0.26
Limbic Lobe8.8 ± 0.42
Mesencephalon8.96 ± 0.4
Myelencephalon8.88 ± 0.38
Occipital Lobe8.86 ± 0.36
Parietal Lobe8.67 ± 0.34
Pontine Tegmentum9.01 ± 0.28
Striatum8.93 ± 0.35
Subthalamus9.13 ± 0.43
Temporal Lobe8.72 ± 0.32
Thalamus8.98 ± 0.28
White Matter10.52 ± 0.39
Mouse Brain ISH
Gene Symbol Brain Structure ID Brain Structure Name Express Desity/Level (Meatured by ISH) Express Bar
Stxbp3aCBCerebellum5.36
5.33
Stxbp3aCTXCerebral cortex5.99
4.25
Stxbp3aHIPHippocampal region7.78
7.72
Stxbp3aHPFHippocampal formation5.76
5.24
Stxbp3aHYHypothalamus2.35
1.72
Stxbp3aLSXLateral septal complex3.54
2.66
Stxbp3aMBMidbrain3.72
3.15
Stxbp3aMYMedulla3.76
3.24
Stxbp3aOLFOlfactory bulb16.28
12.61
Stxbp3aPPons3.65
3.07
Stxbp3aPALPallidum3.86
3.04
Stxbp3aRHPRetrohippocampal region2.62
2.04
Stxbp3asAMYStriatum-like amygdalar nuclei1.45
1.11
Stxbp3aSTRStriatum5.68
4.02
Stxbp3aSTRdStriatum dorsal region7.03
5.12
Stxbp3aSTRvStriatum ventral region4.22
2.57
Stxbp3aTHThalamus4.68
3.44
Peptide Top
Peptide Name Peptide Lengh Peptide Start Peptide End Peptide Sequence Source
PAp00001784 12 462 473 DRSAEETFQLSR Peptide Atlas
STXB3_HUMAN_480 10 480 489 DIMEDAIDNR 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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