AutismKB 2.0

Annotation Detail for STXBP6


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Basic Information Top
Gene Symbol:STXBP6 ( FLJ39638,amisyn )
Gene Full Name: syntaxin binding protein 6 (amisyn)
Band: 14q11.2
Quick LinksEntrez ID:29091; OMIM: 607958; Uniprot ID:STXB6_HUMAN; ENSEMBL ID: ENSG00000168952; HGNC ID: 19666
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 body3 / 7076142
blastocyst0 / 623190 
fetus19 / 56401233
neonate0 / 310970 
infant0 / 236200 
juvenile1 / 5555617
adult42 / 193912121
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) tumor1 / 9417810
cervical tumor0 / 343660 
chondrosarcoma2 / 8282324
colorectal tumor3 / 11424626
esophageal tumor0 / 172900 
gastrointestinal tumor6 / 11936950
germ cell tumor0 / 2638450 
glioma0 / 1068830 
head and neck tumor3 / 13630222
kidney tumor2 / 6895929
leukemia1 / 9584210
liver tumor0 / 963590 
lung tumor0 / 1031270 
lymphoma7 / 7175597
non-neoplasia5 / 9725051
normal104 / 336030730
ovarian tumor1 / 7668213
pancreatic tumor1 / 1046169
primitive neuroectodermal tumor of the CNS0 / 1256800 
prostate cancer1 / 1026809
retinoblastoma0 / 463560 
skin tumor4 / 12494932
soft tissue/muscle tissue tumor0 / 1251910 
uterine tumor16 / 90257177
Pool Name Gene EST/Total EST in pool Transcripts per million(TPM) Bar based on TPM
adipose tissue0 / 131060 
adrenal gland0 / 331970 
ascites1 / 4001524
bladder1 / 2975733
blood2 / 12347816
bone2 / 7165527
bone marrow0 / 488010 
brain42 / 110098938
cervix0 / 481710 
connective tissue1 / 1492556
ear0 / 162120 
embryonic tissue3 / 21572213
esophagus0 / 202090 
eye1 / 2110544
heart5 / 8962655
intestine8 / 23447234
kidney3 / 21177714
larynx0 / 241450 
liver2 / 2077439
lung7 / 33697420
lymph3 / 4427067
lymph node4 / 9161043
mammary gland3 / 15327119
mouth0 / 670520 
muscle1 / 1077159
nerve0 / 157680 
ovary1 / 1020519
pancreas14 / 21481265
parathyroid0 / 205390 
pharynx0 / 413280 
pituitary gland0 / 165850 
placenta4 / 28082514
prostate2 / 18934510
salivary gland0 / 201550 
skin14 / 21057466
spleen0 / 539520 
stomach5 / 9661951
testis3 / 3304429
thymus0 / 811310 
thyroid3 / 4747363
tonsil1 / 1699958
trachea0 / 524130 
umbilical cord0 / 136800 
uterus16 / 23287868
vascular0 / 517800 
Microarray in BioGPS Top
Select probe  
  • Microarray Platform: GeneAtlas U133A, gcrma
  • Affymatrix Probe ID: 220994_s_at
Cell line Expression level Expression bar
721_B_lymphoblasts36.15
Adipocyte5.25
AdrenalCortex5.5
Adrenalgland4.5
Amygdala6.3
Appendix5.4
AtrioventricularNode4
BDCA4+_DentriticCells5.4
Bonemarrow5.25
BronchialEpithelialCells5.25
CD105+_Endothelial4.9
CD14+_Monocytes5.7
CD19+_BCells(neg._sel.)5.8
CD33+_Myeloid6.95
CD34+6.75
CD4+_Tcells5.55
CD56+_NKCells5.85
CD71+_EarlyErythroid5.05
CD8+_Tcells5
CardiacMyocytes6.75
Caudatenucleus4.9
Cerebellum4.3
CerebellumPeduncles6.15
CiliaryGanglion3.75
CingulateCortex8.5
Colorectaladenocarcinoma5.5
DorsalRootGanglion4.1
FetalThyroid5.25
Fetalbrain5.35
Fetalliver4.8
Fetallung6.2
GlobusPallidus4.35
Heart7.1
Hypothalamus8.55
Kidney4.5
Leukemia_chronicMyelogenousK-5624.75
Leukemia_promyelocytic-HL-604.75
Leukemialymphoblastic(MOLT-4)4.15
Liver7.05
Lung27.7
Lymphnode4.65
Lymphoma_burkitts(Daudi)17.8
Lymphoma_burkitts(Raji)7.85
MedullaOblongata5.1
OccipitalLobe6.2
OlfactoryBulb4.15
Ovary3.6
Pancreas4.85
PancreaticIslet7.45
ParietalLobe6.65
Pituitary6.2
Placenta6.7
Pons5.1
PrefrontalCortex8.15
Prostate8.2
Salivarygland4.3
SkeletalMuscle6.1
Skin4.05
SmoothMuscle5.95
Spinalcord5.75
SubthalamicNucleus4.85
SuperiorCervicalGanglion6.05
TemporalLobe4.95
Testis5.65
TestisGermCell4.55
TestisIntersitial4.55
TestisLeydigCell5.3
TestisSeminiferousTubule4.6
Thalamus22.5
Thymus4.25
Thyroid8.7
Tongue5.2
Tonsil5.25
Trachea4.5
TrigeminalGanglion5.25
Uterus4.55
UterusCorpus4.8
WholeBlood5.9
Wholebrain10.5
colon5.4
pineal_day6.42
pineal_night6.34
retina6.55
small_intestine5.25
Allen Brain Atlas Top
Human Whole Brain Microarrayview in Allen Brain Atlas
  • Probe id     Donor id      
  • Probe name: A_24_P10214
  • 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
Amygdala8.4 ± 0.6
Basal Forebrain8.45 ± 0.31
Basal Part of Pons8.63 ± 0.22
Cerebellar Cortex7.3 ± 0.58
Cerebellar Nuclei8.95 ± 0.33
Claustrum8.73 ± 0.63
Epithalamus7.33 ± 1.05
Frontal Lobe8.39 ± 0.61
Globus Pallidus9.44 ± 0.43
Hypothalamus8.03 ± 0.28
Insula8.54 ± 0.71
Limbic Lobe7.9 ± 1.08
Mesencephalon8.26 ± 0.62
Myelencephalon8.35 ± 0.8
Occipital Lobe7.85 ± 0.5
Parietal Lobe8.59 ± 0.56
Pontine Tegmentum8.5 ± 0.88
Striatum9.7 ± 0.94
Subthalamus9.06 ± 0.26
Temporal Lobe8.12 ± 0.52
Thalamus9.28 ± 0.67
White Matter9.57 ± 0.64
Mouse Brain ISH
Gene Symbol Brain Structure ID Brain Structure Name Express Desity/Level (Meatured by ISH) Express Bar
Stxbp6CBCerebellum3.86
6.02
Stxbp6CTXCerebral cortex61.81
69.68
Stxbp6HIPHippocampal region75.61
100
Stxbp6HPFHippocampal formation59.55
90.89
Stxbp6HYHypothalamus21.71
25.02
Stxbp6LSXLateral septal complex13.65
12.9
Stxbp6MBMidbrain35.9
42.77
Stxbp6MYMedulla19.65
27.32
Stxbp6OLFOlfactory bulb63.12
92.87
Stxbp6PPons24.53
30.79
Stxbp6PALPallidum46.22
66.95
Stxbp6RHPRetrohippocampal region31.49
34.7
Stxbp6sAMYStriatum-like amygdalar nuclei65.11
69.31
Stxbp6STRStriatum18.25
17.81
Stxbp6STRdStriatum dorsal region9.06
7.37
Stxbp6STRvStriatum ventral region25.16
25.86
Stxbp6THThalamus37.37
49.1
Peptide Top
Peptide Name Peptide Lengh Peptide Start Peptide End Peptide Sequence Source
STXB6_HUMAN_2 17 2 18 SAKSAISKEIFAPLDER 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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