AutismKB 2.0

Annotation Detail for STXBP1


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Basic Information Top
Gene Symbol:STXBP1 ( FLJ37475,MUNC18-1,NSEC1,P67,RBSEC1,UNC18 )
Gene Full Name: syntaxin binding protein 1
Band: 9q34.11
Quick LinksEntrez ID:6812; OMIM: 602926; Uniprot ID:STXB1_HUMAN; ENSEMBL ID: ENSG00000136854; HGNC ID: 11444
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
blastocyst1 / 6231916
fetus78 / 564012138
neonate3 / 3109796
infant4 / 23620169
juvenile7 / 55556125
adult194 / 1939121100
Pool Name Gene EST/Total EST in pool Transcripts per million(TPM) Bar based on TPM
adrenal tumor1 / 1279478
bladder carcinoma0 / 174750 
breast (mammary gland) tumor10 / 94178106
cervical tumor4 / 34366116
chondrosarcoma15 / 82823181
colorectal tumor3 / 11424626
esophageal tumor0 / 172900 
gastrointestinal tumor15 / 119369125
germ cell tumor20 / 26384575
glioma6 / 10688356
head and neck tumor2 / 13630214
kidney tumor8 / 68959116
leukemia1 / 9584210
liver tumor0 / 963590 
lung tumor1 / 1031279
lymphoma0 / 717550 
non-neoplasia10 / 97250102
normal876 / 3360307260
ovarian tumor1 / 7668213
pancreatic tumor12 / 104616114
primitive neuroectodermal tumor of the CNS14 / 125680111
prostate cancer3 / 10268029
retinoblastoma7 / 46356151
skin tumor14 / 124949112
soft tissue/muscle tissue tumor2 / 12519115
uterine tumor2 / 9025722
Pool Name Gene EST/Total EST in pool Transcripts per million(TPM) Bar based on TPM
adipose tissue1 / 1310676
adrenal gland3 / 3319790
ascites14 / 40015349
bladder3 / 29757100
blood0 / 1234780 
bone7 / 7165597
bone marrow1 / 4880120
brain741 / 1100989673
cervix4 / 4817183
connective tissue13 / 14925587
ear0 / 162120 
embryonic tissue4 / 21572218
esophagus1 / 2020949
eye52 / 211054246
heart0 / 896260 
intestine7 / 23447229
kidney12 / 21177756
larynx0 / 241450 
liver3 / 20774314
lung9 / 33697426
lymph0 / 442700 
lymph node0 / 916100 
mammary gland13 / 15327184
mouth0 / 670520 
muscle2 / 10771518
nerve4 / 15768253
ovary1 / 1020519
pancreas20 / 21481293
parathyroid0 / 205390 
pharynx0 / 413280 
pituitary gland2 / 16585120
placenta6 / 28082521
prostate6 / 18934531
salivary gland0 / 201550 
skin31 / 210574147
spleen1 / 5395218
stomach0 / 966190 
testis31 / 33044293
thymus1 / 8113112
thyroid5 / 47473105
tonsil0 / 169990 
trachea3 / 5241357
umbilical cord2 / 13680146
uterus11 / 23287847
vascular2 / 5178038
Microarray in BioGPS Top
Select probe  
  • Microarray Platform: GeneAtlas U133A, gcrma
  • Affymatrix Probe ID: 202260_s_at
Cell line Expression level Expression bar
721_B_lymphoblasts8.8
Adipocyte64.55
AdrenalCortex32.3
Adrenalgland74.3
Amygdala3180.8
Appendix26.75
AtrioventricularNode20.2
BDCA4+_DentriticCells7
Bonemarrow10.15
BronchialEpithelialCells36.05
CD105+_Endothelial11.45
CD14+_Monocytes5.35
CD19+_BCells(neg._sel.)4.3
CD33+_Myeloid7.45
CD34+14.3
CD4+_Tcells9.6
CD56+_NKCells5.75
CD71+_EarlyErythroid10.2
CD8+_Tcells6.85
CardiacMyocytes16.15
Caudatenucleus590.9
Cerebellum2986.5
CerebellumPeduncles3265.05
CiliaryGanglion57.6
CingulateCortex2974.5
Colorectaladenocarcinoma134.9
DorsalRootGanglion102.45
FetalThyroid14.75
Fetalbrain1142.3
Fetalliver5.35
Fetallung73.4
GlobusPallidus1841.85
Heart50.55
Hypothalamus2024.3
Kidney6.95
Leukemia_chronicMyelogenousK-56216.55
Leukemia_promyelocytic-HL-6045.9
Leukemialymphoblastic(MOLT-4)35.15
Liver16.8
Lung271.15
Lymphnode12.95
Lymphoma_burkitts(Daudi)24.2
Lymphoma_burkitts(Raji)90.75
MedullaOblongata2442.05
OccipitalLobe2123.55
OlfactoryBulb153.25
Ovary11.2
Pancreas26.45
PancreaticIslet303.45
ParietalLobe2270.05
Pituitary817.1
Placenta27.4
Pons1260.55
PrefrontalCortex5485
Prostate32.7
Salivarygland14.3
SkeletalMuscle10.45
Skin7.75
SmoothMuscle66.8
Spinalcord297.25
SubthalamicNucleus2337.9
SuperiorCervicalGanglion141.9
TemporalLobe1831.05
Testis19.95
TestisGermCell12.3
TestisIntersitial8.3
TestisLeydigCell12.35
TestisSeminiferousTubule9.05
Thalamus1575.65
Thymus16.5
Thyroid71.75
Tongue9.25
Tonsil8.3
Trachea16.5
TrigeminalGanglion40.7
Uterus91.75
UterusCorpus31.4
WholeBlood6.55
Wholebrain3056.3
colon11.15
pineal_day4232.64
pineal_night3979.1
retina778.25
small_intestine18.55
Allen Brain Atlas Top
Human Whole Brain Microarrayview in Allen Brain Atlas
  • Probe id     Donor id      
  • Probe name: A_23_P135310
  • 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
Amygdala9.76 ± 0.36
Basal Forebrain9.1 ± 0.22
Basal Part of Pons10.34 ± 0.3
Cerebellar Cortex9.68 ± 0.22
Cerebellar Nuclei9.44 ± 0.52
Claustrum10.06 ± 0.3
Epithalamus8.31 ± 0.72
Frontal Lobe9.36 ± 0.49
Globus Pallidus8.14 ± 0.4
Hypothalamus9.1 ± 0.54
Insula9.37 ± 0.31
Limbic Lobe9.71 ± 0.41
Mesencephalon9.23 ± 0.6
Myelencephalon9.33 ± 0.59
Occipital Lobe9.79 ± 0.37
Parietal Lobe9.66 ± 0.4
Pontine Tegmentum9.24 ± 0.36
Striatum8.36 ± 0.49
Subthalamus9.36 ± 0.25
Temporal Lobe9.59 ± 0.3
Thalamus9.24 ± 0.42
White Matter7.52 ± 0.58
Mouse Brain ISH
Gene Symbol Brain Structure ID Brain Structure Name Express Desity/Level (Meatured by ISH) Express Bar
Stxbp1CBCerebellum50
50
Stxbp1CTXCerebral cortex50
50
Stxbp1HIPHippocampal region38.2
50
Stxbp1HPFHippocampal formation49.08
50
Stxbp1HYHypothalamus50
50
Stxbp1LSXLateral septal complex27.56
24.05
Stxbp1MBMidbrain50
50
Stxbp1MYMedulla50
50
Stxbp1OLFOlfactory bulb50
50
Stxbp1PPons50
50
Stxbp1PALPallidum50
50
Stxbp1RHPRetrohippocampal region50
50
Stxbp1sAMYStriatum-like amygdalar nuclei50
50
Stxbp1STRStriatum27.76
26.65
Stxbp1STRdStriatum dorsal region21.28
20.37
Stxbp1STRvStriatum ventral region36.83
33.15
Stxbp1THThalamus50
50
Peptide Top
Peptide Name Peptide Lengh Peptide Start Peptide End Peptide Sequence Source
PAp00023941 13 344 356 YSTHLHLAEDCMK 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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