AutismKB 2.0

Annotation Detail for SHANK3


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Basic Information Top
Gene Symbol:SHANK3 ( DEL22q13.3,KIAA1650,PROSAP2,PSAP2,SPANK-2 )
Gene Full Name: SH3 and multiple ankyrin repeat domains 3
Band: 22q13.33
Quick LinksEntrez ID:85358; OMIM: 606230; Uniprot ID:F2Z3L0_HUMAN; ENSEMBL ID: ENSG00000251322; HGNC ID: 14294
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
blastocyst2 / 6231932
fetus16 / 56401228
neonate0 / 310970 
infant0 / 236200 
juvenile1 / 5555617
adult39 / 193912120
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 
chondrosarcoma7 / 8282384
colorectal tumor1 / 1142468
esophageal tumor0 / 172900 
gastrointestinal tumor2 / 11936916
germ cell tumor2 / 2638457
glioma6 / 10688356
head and neck tumor0 / 1363020 
kidney tumor1 / 6895914
leukemia0 / 958420 
liver tumor2 / 9635920
lung tumor2 / 10312719
lymphoma0 / 717550 
non-neoplasia3 / 9725030
normal61 / 336030718
ovarian tumor2 / 7668226
pancreatic tumor2 / 10461619
primitive neuroectodermal tumor of the CNS4 / 12568031
prostate cancer0 / 1026800 
retinoblastoma1 / 4635621
skin tumor0 / 1249490 
soft tissue/muscle tissue tumor5 / 12519139
uterine tumor2 / 9025722
Pool Name Gene EST/Total EST in pool Transcripts per million(TPM) Bar based on TPM
adipose tissue0 / 131060 
adrenal gland1 / 3319730
ascites0 / 400150 
bladder0 / 297570 
blood0 / 1234780 
bone4 / 7165555
bone marrow0 / 488010 
brain22 / 110098919
cervix0 / 481710 
connective tissue5 / 14925533
ear0 / 162120 
embryonic tissue6 / 21572227
esophagus0 / 202090 
eye7 / 21105433
heart2 / 8962622
intestine3 / 23447212
kidney5 / 21177723
larynx0 / 241450 
liver1 / 2077434
lung9 / 33697426
lymph0 / 442700 
lymph node1 / 9161010
mammary gland1 / 1532716
mouth0 / 670520 
muscle0 / 1077150 
nerve0 / 157680 
ovary3 / 10205129
pancreas7 / 21481232
parathyroid0 / 205390 
pharynx0 / 413280 
pituitary gland0 / 165850 
placenta3 / 28082510
prostate0 / 1893450 
salivary gland0 / 201550 
skin0 / 2105740 
spleen3 / 5395255
stomach1 / 9661910
testis0 / 3304420 
thymus0 / 811310 
thyroid0 / 474730 
tonsil0 / 169990 
trachea0 / 524130 
umbilical cord0 / 136800 
uterus7 / 23287830
vascular1 / 5178019
Microarray in BioGPS Top
Allen Brain Atlas Top
Human Whole Brain Microarrayview in Allen Brain Atlas
  • Probe id     Donor id      
  • Probe name: CUST_15943_PI416261804
  • 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
Amygdala7.49 ± 0.7
Basal Forebrain6.85 ± 0.19
Basal Part of Pons6.93 ± 0.3
Cerebellar Cortex7.01 ± 0.4
Cerebellar Nuclei6.57 ± 0.34
Claustrum7.71 ± 0.83
Epithalamus6.12 ± 0.35
Frontal Lobe6.75 ± 0.48
Globus Pallidus6.83 ± 0.48
Hypothalamus6.18 ± 0.24
Insula6.87 ± 0.42
Limbic Lobe7.32 ± 0.69
Mesencephalon6.76 ± 0.51
Myelencephalon7.03 ± 0.62
Occipital Lobe7.45 ± 0.67
Parietal Lobe6.95 ± 0.56
Pontine Tegmentum6.83 ± 0.5
Striatum7.5 ± 0.63
Subthalamus6.54 ± 0.22
Temporal Lobe6.94 ± 0.5
Thalamus7.24 ± 0.54
White Matter6.63 ± 0.27
Mouse Brain ISH
Gene Symbol Brain Structure ID Brain Structure Name Express Desity/Level (Meatured by ISH) Express Bar
Shank3CBCerebellum0
0
Shank3CTXCerebral cortex0
0
Shank3HIPHippocampal region0
0
Shank3HPFHippocampal formation0
0
Shank3HYHypothalamus0
0
Shank3LSXLateral septal complex0
0
Shank3MBMidbrain0
0
Shank3MYMedulla0
0
Shank3OLFOlfactory bulb0
0
Shank3PPons0
0
Shank3PALPallidum0
0
Shank3RHPRetrohippocampal region0
0
Shank3sAMYStriatum-like amygdalar nuclei0
0
Shank3STRStriatum0
0
Shank3STRdStriatum dorsal region0
0
Shank3STRvStriatum ventral region0
0
Shank3THThalamus0
0
Peptide Top

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