AutismKB 2.0

Annotation Detail for BSN


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Basic Information Top
Gene Symbol:BSN ( ZNF231 )
Gene Full Name: bassoon (presynaptic cytomatrix protein)
Band: 3p21.31
Quick LinksEntrez ID:8927; OMIM: 604020; Uniprot ID:BSN_HUMAN; ENSEMBL ID: ENSG00000164061; HGNC ID: 1117
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 body0 / 707610 
blastocyst0 / 623190 
fetus17 / 56401230
neonate0 / 310970 
infant12 / 23620508
juvenile1 / 5555617
adult53 / 193912127
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) tumor0 / 941780 
cervical tumor0 / 343660 
chondrosarcoma1 / 8282312
colorectal tumor1 / 1142468
esophageal tumor0 / 172900 
gastrointestinal tumor0 / 1193690 
germ cell tumor1 / 2638453
glioma5 / 10688346
head and neck tumor0 / 1363020 
kidney tumor2 / 6895929
leukemia7 / 9584273
liver tumor0 / 963590 
lung tumor0 / 1031270 
lymphoma0 / 717550 
non-neoplasia1 / 9725010
normal117 / 336030734
ovarian tumor0 / 766820 
pancreatic tumor7 / 10461666
primitive neuroectodermal tumor of the CNS1 / 1256807
prostate cancer0 / 1026800 
retinoblastoma2 / 4635643
skin tumor2 / 12494916
soft tissue/muscle tissue tumor0 / 1251910 
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 
bladder0 / 297570 
blood7 / 12347856
bone1 / 7165513
bone marrow0 / 488010 
brain105 / 110098995
cervix0 / 481710 
connective tissue0 / 1492550 
ear0 / 162120 
embryonic tissue0 / 2157220 
esophagus0 / 202090 
eye6 / 21105428
heart0 / 896260 
intestine2 / 2344728
kidney2 / 2117779
larynx0 / 241450 
liver0 / 2077430 
lung1 / 3369742
lymph0 / 442700 
lymph node0 / 916100 
mammary gland0 / 1532710 
mouth0 / 670520 
muscle3 / 10771527
nerve2 / 15768126
ovary0 / 1020510 
pancreas7 / 21481232
parathyroid0 / 205390 
pharynx0 / 413280 
pituitary gland0 / 165850 
placenta0 / 2808250 
prostate0 / 1893450 
salivary gland0 / 201550 
skin2 / 2105749
spleen0 / 539520 
stomach0 / 966190 
testis13 / 33044239
thymus0 / 811310 
thyroid0 / 474730 
tonsil0 / 169990 
trachea0 / 524130 
umbilical cord0 / 136800 
uterus0 / 2328780 
vascular0 / 517800 
Microarray in BioGPS Top
Select probe  
  • Microarray Platform: GeneAtlas U133A, gcrma
  • Affymatrix Probe ID: 204586_at
Cell line Expression level Expression bar
721_B_lymphoblasts3.4
Adipocyte2.65
AdrenalCortex2.75
Adrenalgland2.25
Amygdala36.75
Appendix2.75
AtrioventricularNode1.95
BDCA4+_DentriticCells3.05
Bonemarrow2.65
BronchialEpithelialCells2.65
CD105+_Endothelial2.7
CD14+_Monocytes2.9
CD19+_BCells(neg._sel.)2.9
CD33+_Myeloid3.5
CD34+3.5
CD4+_Tcells3
CD56+_NKCells3.3
CD71+_EarlyErythroid2.5
CD8+_Tcells2.65
CardiacMyocytes3.3
Caudatenucleus10.3
Cerebellum39.85
CerebellumPeduncles36.8
CiliaryGanglion1.85
CingulateCortex64.5
Colorectaladenocarcinoma2.65
DorsalRootGanglion2
FetalThyroid2.65
Fetalbrain5.45
Fetalliver2.3
Fetallung2.25
GlobusPallidus20.25
Heart3.4
Hypothalamus3.8
Kidney2.15
Leukemia_chronicMyelogenousK-5622.4
Leukemia_promyelocytic-HL-602.4
Leukemialymphoblastic(MOLT-4)2.15
Liver3.5
Lung3
Lymphnode2.35
Lymphoma_burkitts(Daudi)3.4
Lymphoma_burkitts(Raji)3.7
MedullaOblongata42.05
OccipitalLobe56.2
OlfactoryBulb2.15
Ovary1.75
Pancreas2.1
PancreaticIslet2.9
ParietalLobe43.85
Pituitary3.15
Placenta2.8
Pons7.6
PrefrontalCortex122.85
Prostate3.2
Salivarygland2.1
SkeletalMuscle3
Skin2
SmoothMuscle3.05
Spinalcord3.45
SubthalamicNucleus45.35
SuperiorCervicalGanglion3
TemporalLobe22.05
Testis2.3
TestisGermCell2.3
TestisIntersitial2.25
TestisLeydigCell2.6
TestisSeminiferousTubule2.3
Thalamus17.05
Thymus2.15
Thyroid3.35
Tongue2.55
Tonsil2.6
Trachea2.25
TrigeminalGanglion2.6
Uterus2.25
UterusCorpus2.55
WholeBlood3
Wholebrain56.7
colon2.65
pineal_day3.62
pineal_night3.32
retina3.225
small_intestine2.55
Allen Brain Atlas Top
Human Whole Brain Microarrayview in Allen Brain Atlas
  • Probe id     Donor id      
  • Probe name: CUST_115_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
Amygdala10.62 ± 0.67
Basal Forebrain9.48 ± 0.38
Basal Part of Pons10.06 ± 0.36
Cerebellar Cortex9.55 ± 0.35
Cerebellar Nuclei8.52 ± 0.71
Claustrum11.02 ± 0.58
Epithalamus8.2 ± 0.91
Frontal Lobe9.62 ± 0.71
Globus Pallidus7.78 ± 0.72
Hypothalamus8.94 ± 0.53
Insula9.88 ± 0.51
Limbic Lobe10.48 ± 0.67
Mesencephalon9.49 ± 0.75
Myelencephalon9.75 ± 0.67
Occipital Lobe10.35 ± 0.67
Parietal Lobe10.02 ± 0.76
Pontine Tegmentum9.56 ± 0.66
Striatum9.81 ± 0.66
Subthalamus9.3 ± 0.26
Temporal Lobe10.07 ± 0.58
Thalamus9.76 ± 0.45
White Matter7.29 ± 0.89
Mouse Brain ISH
Gene Symbol Brain Structure ID Brain Structure Name Express Desity/Level (Meatured by ISH) Express Bar
BsnCBCerebellum57.21
84.31
BsnCTXCerebral cortex100
100
BsnHIPHippocampal region88.69
100
BsnHPFHippocampal formation91.66
100
BsnHYHypothalamus21.01
18.3
BsnLSXLateral septal complex34.67
31.91
BsnMBMidbrain44.81
49.65
BsnMYMedulla44.56
59.36
BsnOLFOlfactory bulb98.17
100
BsnPPons43.95
58
BsnPALPallidum35.65
37.03
BsnRHPRetrohippocampal region97.5
100
BsnsAMYStriatum-like amygdalar nuclei32.32
28.14
BsnSTRStriatum67.89
57.07
BsnSTRdStriatum dorsal region77.68
65.45
BsnSTRvStriatum ventral region65.44
52.11
BsnTHThalamus93.34
97.66
Peptide Top
Peptide Name Peptide Lengh Peptide Start Peptide End Peptide Sequence Source
BSN_HUMAN_1758 29 1758 1786 LDFGQGGGSPVCLAQVKQVEQAVQTAPYR PRIDE
BSN_HUMAN_2435 15 2435 2449 QAQFALQREQLAQQR PRIDE
PAp00073754 20 1907 1926 LPFGSSCTGTFHPAPSVPEK 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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