AutismKB 2.0

Annotation Detail for SV2A


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Basic Information Top
Gene Symbol:SV2A ( KIAA0736,SV2 )
Gene Full Name: synaptic vesicle glycoprotein 2A
Band: 1q21.2
Quick LinksEntrez ID:9900; OMIM: 185860; Uniprot ID:SV2A_HUMAN; ENSEMBL ID: ENSG00000159164; HGNC ID: 20566
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
blastocyst4 / 6231964
fetus95 / 564012168
neonate1 / 3109732
infant4 / 23620169
juvenile0 / 555560 
adult120 / 193912161
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) tumor1 / 9417810
cervical tumor0 / 343660 
chondrosarcoma2 / 8282324
colorectal tumor0 / 1142460 
esophageal tumor0 / 172900 
gastrointestinal tumor1 / 1193698
germ cell tumor65 / 263845246
glioma13 / 106883121
head and neck tumor14 / 136302102
kidney tumor4 / 6895958
leukemia2 / 9584220
liver tumor0 / 963590 
lung tumor5 / 10312748
lymphoma0 / 717550 
non-neoplasia3 / 9725030
normal1061 / 3360307315
ovarian tumor2 / 7668226
pancreatic tumor2 / 10461619
primitive neuroectodermal tumor of the CNS16 / 125680127
prostate cancer0 / 1026800 
retinoblastoma1 / 4635621
skin tumor2 / 12494916
soft tissue/muscle tissue tumor8 / 12519163
uterine tumor1 / 9025711
Pool Name Gene EST/Total EST in pool Transcripts per million(TPM) Bar based on TPM
adipose tissue0 / 131060 
adrenal gland1 / 3319730
ascites1 / 4001524
bladder0 / 297570 
blood2 / 12347816
bone5 / 7165569
bone marrow0 / 488010 
brain1017 / 1100989923
cervix0 / 481710 
connective tissue1 / 1492556
ear1 / 1621261
embryonic tissue11 / 21572250
esophagus0 / 202090 
eye21 / 21105499
heart0 / 896260 
intestine0 / 2344720 
kidney5 / 21177723
larynx0 / 241450 
liver0 / 2077430 
lung12 / 33697435
lymph0 / 442700 
lymph node0 / 916100 
mammary gland1 / 1532716
mouth9 / 67052134
muscle12 / 107715111
nerve0 / 157680 
ovary6 / 10205158
pancreas3 / 21481213
parathyroid1 / 2053948
pharynx0 / 413280 
pituitary gland0 / 165850 
placenta1 / 2808253
prostate0 / 1893450 
salivary gland3 / 20155148
skin4 / 21057418
spleen0 / 539520 
stomach0 / 966190 
testis54 / 330442163
thymus11 / 81131135
thyroid2 / 4747342
tonsil0 / 169990 
trachea2 / 5241338
umbilical cord0 / 136800 
uterus6 / 23287825
vascular0 / 517800 
Microarray in BioGPS Top
Select probe  
  • Microarray Platform: GeneAtlas U133A, gcrma
  • Affymatrix Probe ID: 203069_at
Cell line Expression level Expression bar
721_B_lymphoblasts14.65
Adipocyte41.05
AdrenalCortex62.15
Adrenalgland48.3
Amygdala1423.15
Appendix19.3
AtrioventricularNode9.8
BDCA4+_DentriticCells12.55
Bonemarrow31.1
BronchialEpithelialCells14.35
CD105+_Endothelial13.4
CD14+_Monocytes12.35
CD19+_BCells(neg._sel.)14.85
CD33+_Myeloid17.8
CD34+71.55
CD4+_Tcells15.7
CD56+_NKCells16.65
CD71+_EarlyErythroid14.3
CD8+_Tcells13.2
CardiacMyocytes26.7
Caudatenucleus372.6
Cerebellum680.15
CerebellumPeduncles635.25
CiliaryGanglion12.75
CingulateCortex1150.05
Colorectaladenocarcinoma23.9
DorsalRootGanglion17.2
FetalThyroid11.2
Fetalbrain388
Fetalliver27.2
Fetallung13.2
GlobusPallidus295.85
Heart29.8
Hypothalamus976.9
Kidney18.05
Leukemia_chronicMyelogenousK-56213.3
Leukemia_promyelocytic-HL-6012.95
Leukemialymphoblastic(MOLT-4)172.2
Liver43.25
Lung21.15
Lymphnode18.65
Lymphoma_burkitts(Daudi)20.5
Lymphoma_burkitts(Raji)32.3
MedullaOblongata631.1
OccipitalLobe637.45
OlfactoryBulb31.55
Ovary11.1
Pancreas13.8
PancreaticIslet43.3
ParietalLobe744.3
Pituitary104.55
Placenta15.25
Pons372.95
PrefrontalCortex1375.05
Prostate16.65
Salivarygland18.5
SkeletalMuscle98.7
Skin12.6
SmoothMuscle17.05
Spinalcord193.95
SubthalamicNucleus525.5
SuperiorCervicalGanglion31.55
TemporalLobe463.85
Testis18.8
TestisGermCell13.45
TestisIntersitial10.9
TestisLeydigCell18.75
TestisSeminiferousTubule13.25
Thalamus981.3
Thymus25.35
Thyroid34
Tongue18.15
Tonsil15.6
Trachea16.9
TrigeminalGanglion14.75
Uterus27.75
UterusCorpus44.8
WholeBlood15.85
Wholebrain1018.65
colon18.2
pineal_day1548.2
pineal_night1605.66
retina206.6
small_intestine17.3
Allen Brain Atlas Top
Human Whole Brain Microarrayview in Allen Brain Atlas
  • Probe id     Donor id      
  • Probe name: A_24_P131236
  • 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
Amygdala6.72 ± 0.55
Basal Forebrain6.63 ± 0.31
Basal Part of Pons7.29 ± 0.28
Cerebellar Cortex7.32 ± 0.17
Cerebellar Nuclei6.67 ± 0.68
Claustrum6.78 ± 0.51
Epithalamus6.31 ± 0.78
Frontal Lobe6.77 ± 0.42
Globus Pallidus5.38 ± 0.38
Hypothalamus6.41 ± 0.51
Insula6.75 ± 0.4
Limbic Lobe7.04 ± 0.54
Mesencephalon6.72 ± 0.58
Myelencephalon6.82 ± 0.54
Occipital Lobe7.66 ± 0.6
Parietal Lobe6.94 ± 0.35
Pontine Tegmentum6.73 ± 0.53
Striatum6.64 ± 0.43
Subthalamus6.97 ± 0.25
Temporal Lobe6.92 ± 0.41
Thalamus6.94 ± 0.36
White Matter5.45 ± 0.45
Mouse Brain ISH
Gene Symbol Brain Structure ID Brain Structure Name Express Desity/Level (Meatured by ISH) Express Bar
Sv2aCBCerebellum100
100
Sv2aCTXCerebral cortex100
100
Sv2aHIPHippocampal region100
100
Sv2aHPFHippocampal formation100
100
Sv2aHYHypothalamus100
100
Sv2aLSXLateral septal complex100
100
Sv2aMBMidbrain100
100
Sv2aMYMedulla100
100
Sv2aOLFOlfactory bulb100
100
Sv2aPPons100
100
Sv2aPALPallidum100
100
Sv2aRHPRetrohippocampal region100
100
Sv2asAMYStriatum-like amygdalar nuclei100
100
Sv2aSTRStriatum100
100
Sv2aSTRdStriatum dorsal region100
100
Sv2aSTRvStriatum ventral region100
100
Sv2aTHThalamus100
100
Peptide Top
Peptide Name Peptide Lengh Peptide Start Peptide End Peptide Sequence Source
PAp00079519 12 683 694 TTAFGFLNALCK 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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