AutismKB 2.0

Annotation Detail for CASK


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Basic Information Top
Gene Symbol:CASK ( CAGH39,CAMGUK,CMG,FGS4,FLJ22219,FLJ31914,LIN2,MICPCH,TNRC8 )
Gene Full Name: calcium/calmodulin-dependent serine protein kinase (MAGUK family)
Band: Xp11.4
Quick LinksEntrez ID:8573; OMIM: 300172; Uniprot ID:CSKP_HUMAN; ENSEMBL ID: ENSG00000147044; HGNC ID: 1497
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 body6 / 7076184
blastocyst6 / 6231996
fetus33 / 56401258
neonate0 / 310970 
infant4 / 23620169
juvenile3 / 5555653
adult76 / 193912139
Pool Name Gene EST/Total EST in pool Transcripts per million(TPM) Bar based on TPM
adrenal tumor0 / 127940 
bladder carcinoma1 / 1747557
breast (mammary gland) tumor1 / 9417810
cervical tumor1 / 3436629
chondrosarcoma2 / 8282324
colorectal tumor5 / 11424643
esophageal tumor0 / 172900 
gastrointestinal tumor4 / 11936933
germ cell tumor21 / 26384579
glioma4 / 10688337
head and neck tumor4 / 13630229
kidney tumor2 / 6895929
leukemia3 / 9584231
liver tumor5 / 9635951
lung tumor0 / 1031270 
lymphoma1 / 7175513
non-neoplasia3 / 9725030
normal154 / 336030745
ovarian tumor2 / 7668226
pancreatic tumor0 / 1046160 
primitive neuroectodermal tumor of the CNS2 / 12568015
prostate cancer2 / 10268019
retinoblastoma0 / 463560 
skin tumor2 / 12494916
soft tissue/muscle tissue tumor3 / 12519123
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
ascites2 / 4001549
bladder2 / 2975767
blood1 / 1234788
bone2 / 7165527
bone marrow2 / 4880140
brain46 / 110098941
cervix3 / 4817162
connective tissue4 / 14925526
ear1 / 1621261
embryonic tissue15 / 21572269
esophagus0 / 202090 
eye10 / 21105447
heart3 / 8962633
intestine15 / 23447263
kidney9 / 21177742
larynx0 / 241450 
liver12 / 20774357
lung11 / 33697432
lymph1 / 4427022
lymph node2 / 9161021
mammary gland5 / 15327132
mouth4 / 6705259
muscle4 / 10771537
nerve0 / 157680 
ovary4 / 10205139
pancreas0 / 2148120 
parathyroid3 / 20539146
pharynx0 / 413280 
pituitary gland0 / 165850 
placenta6 / 28082521
prostate5 / 18934526
salivary gland1 / 2015549
skin3 / 21057414
spleen0 / 539520 
stomach4 / 9661941
testis15 / 33044245
thymus2 / 8113124
thyroid0 / 474730 
tonsil0 / 169990 
trachea2 / 5241338
umbilical cord0 / 136800 
uterus2 / 2328788
vascular1 / 5178019
Microarray in BioGPS Top
Select probe  
  • Microarray Platform: GeneAtlas U133A, gcrma
  • Affymatrix Probe ID: 211208_s_at
Cell line Expression level Expression bar
721_B_lymphoblasts36.5
Adipocyte34.15
AdrenalCortex30.5
Adrenalgland33.3
Amygdala28
Appendix27.25
AtrioventricularNode21.15
BDCA4+_DentriticCells18.75
Bonemarrow20.65
BronchialEpithelialCells32.15
CD105+_Endothelial21.45
CD14+_Monocytes19.45
CD19+_BCells(neg._sel.)29.1
CD33+_Myeloid31.3
CD34+21.2
CD4+_Tcells39.45
CD56+_NKCells27.05
CD71+_EarlyErythroid25.1
CD8+_Tcells34.5
CardiacMyocytes28.1
Caudatenucleus28.3
Cerebellum21.75
CerebellumPeduncles30.6
CiliaryGanglion19.45
CingulateCortex34.6
Colorectaladenocarcinoma24
DorsalRootGanglion28.6
FetalThyroid23.4
Fetalbrain109.15
Fetalliver23.25
Fetallung25.45
GlobusPallidus32.7
Heart31.4
Hypothalamus38.25
Kidney20.2
Leukemia_chronicMyelogenousK-56220.3
Leukemia_promyelocytic-HL-6021.25
Leukemialymphoblastic(MOLT-4)20.15
Liver32.2
Lung16.65
Lymphnode24.55
Lymphoma_burkitts(Daudi)23.25
Lymphoma_burkitts(Raji)22.75
MedullaOblongata24.95
OccipitalLobe31.45
OlfactoryBulb26.3
Ovary19.7
Pancreas29.35
PancreaticIslet28.9
ParietalLobe28.7
Pituitary51.1
Placenta22.45
Pons25.65
PrefrontalCortex39.1
Prostate31.2
Salivarygland25.25
SkeletalMuscle31.75
Skin43.4
SmoothMuscle42.7
Spinalcord48.25
SubthalamicNucleus24.95
SuperiorCervicalGanglion30.85
TemporalLobe24.55
Testis19.2
TestisGermCell22.1
TestisIntersitial22.35
TestisLeydigCell27.15
TestisSeminiferousTubule23.55
Thalamus26.85
Thymus21.5
Thyroid33.3
Tongue28.6
Tonsil28.25
Trachea27.75
TrigeminalGanglion39.45
Uterus27.8
UterusCorpus26.7
WholeBlood24.4
Wholebrain21.2
colon48.9
pineal_day61.04
pineal_night55.5
retina35.075
small_intestine83
Allen Brain Atlas Top
Human Whole Brain Microarrayview in Allen Brain Atlas
  • Probe id     Donor id      
  • Probe name: A_24_P288722
  • 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
Amygdala6.59 ± 0.32
Basal Forebrain6.44 ± 0.29
Basal Part of Pons5.99 ± 0.14
Cerebellar Cortex6.12 ± 0.27
Cerebellar Nuclei6.06 ± 0.33
Claustrum6.17 ± 0.47
Epithalamus6.67 ± 0.37
Frontal Lobe6.27 ± 0.32
Globus Pallidus6.62 ± 0.15
Hypothalamus6.38 ± 0.23
Insula6.32 ± 0.33
Limbic Lobe6.59 ± 0.34
Mesencephalon6.41 ± 0.49
Myelencephalon6.45 ± 0.38
Occipital Lobe6.52 ± 0.33
Parietal Lobe6.27 ± 0.38
Pontine Tegmentum6.38 ± 0.36
Striatum6.68 ± 0.32
Subthalamus6.07 ± 0.21
Temporal Lobe6.44 ± 0.33
Thalamus6.5 ± 0.29
White Matter6.29 ± 0.28
Mouse Brain ISH
Gene Symbol Brain Structure ID Brain Structure Name Express Desity/Level (Meatured by ISH) Express Bar
CaskCBCerebellum7.22
7.56
CaskCTXCerebral cortex5.93
5.51
CaskHIPHippocampal region4.2
4.31
CaskHPFHippocampal formation4.22
3.76
CaskHYHypothalamus1.14
1.06
CaskLSXLateral septal complex1.14
1.31
CaskMBMidbrain2.21
2.9
CaskMYMedulla3.04
3.43
CaskOLFOlfactory bulb16.78
12.78
CaskPPons5.84
7.78
CaskPALPallidum1.17
1.26
CaskRHPRetrohippocampal region4.37
3.08
CasksAMYStriatum-like amygdalar nuclei2.44
1.77
CaskSTRStriatum1.75
1.35
CaskSTRdStriatum dorsal region1.49
1.14
CaskSTRvStriatum ventral region2.49
1.83
CaskTHThalamus1.37
1.1
Peptide Top
Peptide Name Peptide Lengh Peptide Start Peptide End Peptide Sequence Source
PAp00039971 12 141 152 DVKPHCVLLASK 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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