AutismKB 2.0

Annotation Detail for SHANK1


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Basic Information Top
Gene Symbol:SHANK1 ( SPANK-1,SSTRIP,synamon )
Gene Full Name: SH3 and multiple ankyrin repeat domains 1
Band: 19q13.33
Quick LinksEntrez ID:50944; OMIM: 604999; Uniprot ID:SHAN1_HUMAN; ENSEMBL ID: ENSG00000161681; HGNC ID: 15474
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 
fetus0 / 5640120 
neonate0 / 310970 
infant0 / 236200 
juvenile0 / 555560 
adult11 / 19391215
Pool Name Gene EST/Total EST in pool Transcripts per million(TPM) Bar based on TPM
adrenal tumor2 / 12794156
bladder carcinoma0 / 174750 
breast (mammary gland) tumor4 / 9417842
cervical tumor0 / 343660 
chondrosarcoma1 / 8282312
colorectal tumor1 / 1142468
esophageal tumor0 / 172900 
gastrointestinal tumor0 / 1193690 
germ cell tumor1 / 2638453
glioma0 / 1068830 
head and neck tumor0 / 1363020 
kidney tumor0 / 689590 
leukemia0 / 958420 
liver tumor0 / 963590 
lung tumor0 / 1031270 
lymphoma0 / 717550 
non-neoplasia0 / 972500 
normal8 / 33603072
ovarian tumor0 / 766820 
pancreatic tumor0 / 1046160 
primitive neuroectodermal tumor of the CNS3 / 12568023
prostate cancer0 / 1026800 
retinoblastoma2 / 4635643
skin tumor0 / 1249490 
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 gland2 / 3319760
ascites0 / 400150 
bladder0 / 297570 
blood0 / 1234780 
bone0 / 716550 
bone marrow0 / 488010 
brain9 / 11009898
cervix0 / 481710 
connective tissue0 / 1492550 
ear0 / 162120 
embryonic tissue0 / 2157220 
esophagus0 / 202090 
eye2 / 2110549
heart0 / 896260 
intestine1 / 2344724
kidney0 / 2117770 
larynx0 / 241450 
liver0 / 2077430 
lung0 / 3369740 
lymph0 / 442700 
lymph node0 / 916100 
mammary gland4 / 15327126
mouth0 / 670520 
muscle0 / 1077150 
nerve0 / 157680 
ovary0 / 1020510 
pancreas0 / 2148120 
parathyroid0 / 205390 
pharynx0 / 413280 
pituitary gland0 / 165850 
placenta0 / 2808250 
prostate0 / 1893450 
salivary gland0 / 201550 
skin0 / 2105740 
spleen0 / 539520 
stomach0 / 966190 
testis0 / 3304420 
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: 220563_s_at
Cell line Expression level Expression bar
721_B_lymphoblasts5.55
Adipocyte4.5
AdrenalCortex5.05
Adrenalgland3.8
Amygdala4.7
Appendix4.65
AtrioventricularNode3.7
BDCA4+_DentriticCells5.25
Bonemarrow4.65
BronchialEpithelialCells4.4
CD105+_Endothelial4.6
CD14+_Monocytes4.85
CD19+_BCells(neg._sel.)4.9
CD33+_Myeloid5.8
CD34+5.7
CD4+_Tcells4.9
CD56+_NKCells8.25
CD71+_EarlyErythroid4.3
CD8+_Tcells4.4
CardiacMyocytes6.25
Caudatenucleus4
Cerebellum3.65
CerebellumPeduncles5.25
CiliaryGanglion3.25
CingulateCortex4.75
Colorectaladenocarcinoma4.6
DorsalRootGanglion3.65
FetalThyroid4.4
Fetalbrain4.45
Fetalliver4
Fetallung3.65
GlobusPallidus3.4
Heart6.2
Hypothalamus4.9
Kidney3.75
Leukemia_chronicMyelogenousK-5624.1
Leukemia_promyelocytic-HL-604
Leukemialymphoblastic(MOLT-4)3.6
Liver6.1
Lung4.9
Lymphnode3.85
Lymphoma_burkitts(Daudi)5.85
Lymphoma_burkitts(Raji)6.6
MedullaOblongata4.1
OccipitalLobe4.05
OlfactoryBulb3.55
Ovary3.1
Pancreas3.7
PancreaticIslet4.85
ParietalLobe4.8
Pituitary5.3
Placenta4.55
Pons4.3
PrefrontalCortex5.55
Prostate5.25
Salivarygland3.8
SkeletalMuscle5.4
Skin3.85
SmoothMuscle5.1
Spinalcord4.8
SubthalamicNucleus4.15
SuperiorCervicalGanglion6.6
TemporalLobe4.15
Testis3.85
TestisGermCell3.75
TestisIntersitial3.75
TestisLeydigCell4.5
TestisSeminiferousTubule3.85
Thalamus4.6
Thymus3.55
Thyroid5.6
Tongue4.5
Tonsil4.45
Trachea3.75
TrigeminalGanglion4.55
Uterus3.65
UterusCorpus4.1
WholeBlood4.9
Wholebrain3.8
colon4.6
pineal_day5.6
pineal_night5.48
retina5.45
small_intestine4.4
Allen Brain Atlas Top
Human Whole Brain Microarrayview in Allen Brain Atlas
  • Probe id     Donor id      
  • Probe name: CUST_1887_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
Amygdala5.59 ± 0.56
Basal Forebrain4.9 ± 0.24
Basal Part of Pons5.04 ± 0.68
Cerebellar Cortex5.32 ± 0.39
Cerebellar Nuclei4.52 ± 0.41
Claustrum5.27 ± 0.65
Epithalamus4.89 ± 0.75
Frontal Lobe5.12 ± 0.57
Globus Pallidus3.81 ± 0.7
Hypothalamus4.47 ± 0.51
Insula5.44 ± 0.25
Limbic Lobe5.46 ± 0.43
Mesencephalon4.89 ± 0.73
Myelencephalon5.11 ± 0.66
Occipital Lobe5 ± 0.48
Parietal Lobe5.23 ± 0.6
Pontine Tegmentum4.95 ± 0.65
Striatum3.86 ± 0.77
Subthalamus4.23 ± 0.98
Temporal Lobe5.39 ± 0.41
Thalamus5.01 ± 0.49
White Matter3.3 ± 0.38
Mouse Brain ISH
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


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