AutismKB 2.0

Annotation Detail for STXBP5


View Evidences View Variants View Annotations
Basic Information Top
Gene Symbol:STXBP5 ( FLJ30922,LGL3,LLGL3,MGC141942,MGC141968,Nbla04300 )
Gene Full Name: syntaxin binding protein 5 (tomosyn)
Band: 6q24.3
Quick LinksEntrez ID:134957; OMIM: 604586; Uniprot ID:STXB5_HUMAN; ENSEMBL ID: ENSG00000164506; HGNC ID: 19665
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 
fetus12 / 56401221
neonate0 / 310970 
infant0 / 236200 
juvenile0 / 555560 
adult58 / 193912129
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) tumor2 / 9417821
cervical tumor0 / 343660 
chondrosarcoma3 / 8282336
colorectal tumor2 / 11424617
esophageal tumor1 / 1729057
gastrointestinal tumor1 / 1193698
germ cell tumor9 / 26384534
glioma0 / 1068830 
head and neck tumor2 / 13630214
kidney tumor0 / 689590 
leukemia5 / 9584252
liver tumor1 / 9635910
lung tumor1 / 1031279
lymphoma0 / 717550 
non-neoplasia4 / 9725041
normal93 / 336030727
ovarian tumor0 / 766820 
pancreatic tumor1 / 1046169
primitive neuroectodermal tumor of the CNS0 / 1256800 
prostate cancer2 / 10268019
retinoblastoma0 / 463560 
skin tumor2 / 12494916
soft tissue/muscle tissue tumor2 / 12519115
uterine tumor0 / 902570 
Pool Name Gene EST/Total EST in pool Transcripts per million(TPM) Bar based on TPM
adipose tissue0 / 131060 
adrenal gland0 / 331970 
ascites0 / 400150 
bladder1 / 2975733
blood1 / 1234788
bone3 / 7165541
bone marrow6 / 48801122
brain21 / 110098919
cervix0 / 481710 
connective tissue0 / 1492550 
ear2 / 16212123
embryonic tissue3 / 21572213
esophagus1 / 2020949
eye3 / 21105414
heart0 / 896260 
intestine4 / 23447217
kidney2 / 2117779
larynx0 / 241450 
liver2 / 2077439
lung6 / 33697417
lymph0 / 442700 
lymph node7 / 9161076
mammary gland4 / 15327126
mouth1 / 6705214
muscle4 / 10771537
nerve1 / 1576863
ovary0 / 1020510 
pancreas11 / 21481251
parathyroid12 / 20539584
pharynx0 / 413280 
pituitary gland0 / 165850 
placenta8 / 28082528
prostate5 / 18934526
salivary gland0 / 201550 
skin3 / 21057414
spleen0 / 539520 
stomach1 / 9661910
testis20 / 33044260
thymus3 / 8113136
thyroid0 / 474730 
tonsil0 / 169990 
trachea1 / 5241319
umbilical cord0 / 136800 
uterus7 / 23287830
vascular0 / 517800 
Microarray in BioGPS Top
Allen Brain Atlas Top
Human Whole Brain Microarrayview in Allen Brain Atlas
  • Probe id     Donor id      
  • Probe name: CUST_615_PI416408490
  • 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
Amygdala8.74 ± 0.36
Basal Forebrain8.05 ± 0.2
Basal Part of Pons8.52 ± 0.36
Cerebellar Cortex8.1 ± 0.4
Cerebellar Nuclei8.14 ± 0.37
Claustrum9.27 ± 0.39
Epithalamus7.59 ± 0.6
Frontal Lobe8.29 ± 0.49
Globus Pallidus7.85 ± 0.23
Hypothalamus8.39 ± 0.4
Insula8.32 ± 0.36
Limbic Lobe8.66 ± 0.47
Mesencephalon8.32 ± 0.4
Myelencephalon8.29 ± 0.44
Occipital Lobe8.56 ± 0.48
Parietal Lobe8.38 ± 0.49
Pontine Tegmentum8.2 ± 0.43
Striatum8.26 ± 0.41
Subthalamus8.2 ± 0.17
Temporal Lobe8.26 ± 0.4
Thalamus8.1 ± 0.4
White Matter7.3 ± 0.69
Mouse Brain ISH
Gene Symbol Brain Structure ID Brain Structure Name Express Desity/Level (Meatured by ISH) Express Bar
Stxbp5CBCerebellum40.05
51.62
Stxbp5CTXCerebral cortex100
100
Stxbp5HIPHippocampal region100
100
Stxbp5HPFHippocampal formation100
100
Stxbp5HYHypothalamus58.07
51.14
Stxbp5LSXLateral septal complex62.39
48.78
Stxbp5MBMidbrain70.45
71.11
Stxbp5MYMedulla52.46
61.3
Stxbp5OLFOlfactory bulb100
100
Stxbp5PPons48.79
55.15
Stxbp5PALPallidum54.37
52.71
Stxbp5RHPRetrohippocampal region100
100
Stxbp5sAMYStriatum-like amygdalar nuclei79.17
68
Stxbp5STRStriatum96.2
78.93
Stxbp5STRdStriatum dorsal region100
81.08
Stxbp5STRvStriatum ventral region100
88.16
Stxbp5THThalamus62.32
57.72
Peptide Top
Peptide Name Peptide Lengh Peptide Start Peptide End Peptide Sequence Source
PAp00038747 25 9 33 VLDGLTAGSSSASQQQQQQHPPGNR 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