AutismKB 2.0

Annotation Detail for CAMK2A


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Basic Information Top
Gene Symbol:CAMK2A ( CAMKA,KIAA0968 )
Gene Full Name: calcium/calmodulin-dependent protein kinase II alpha
Band: 5q32
Quick LinksEntrez ID:815; OMIM: 114078; Uniprot ID:KCC2A_HUMAN; ENSEMBL ID: ENSG00000070808; HGNC ID: 1460
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 body2 / 7076128
blastocyst0 / 623190 
fetus7 / 56401212
neonate0 / 310970 
infant0 / 236200 
juvenile0 / 555560 
adult58 / 193912129
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 
chondrosarcoma0 / 828230 
colorectal tumor0 / 1142460 
esophageal tumor0 / 172900 
gastrointestinal tumor0 / 1193690 
germ cell tumor1 / 2638453
glioma6 / 10688356
head and neck tumor0 / 1363020 
kidney tumor5 / 6895972
leukemia0 / 958420 
liver tumor0 / 963590 
lung tumor0 / 1031270 
lymphoma0 / 717550 
non-neoplasia6 / 9725061
normal372 / 3360307110
ovarian tumor0 / 766820 
pancreatic tumor0 / 1046160 
primitive neuroectodermal tumor of the CNS10 / 12568079
prostate cancer0 / 1026800 
retinoblastoma0 / 463560 
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 gland0 / 331970 
ascites0 / 400150 
bladder0 / 297570 
blood0 / 1234780 
bone0 / 716550 
bone marrow0 / 488010 
brain383 / 1100989347
cervix0 / 481710 
connective tissue0 / 1492550 
ear0 / 162120 
embryonic tissue2 / 2157229
esophagus0 / 202090 
eye2 / 2110549
heart1 / 8962611
intestine0 / 2344720 
kidney5 / 21177723
larynx0 / 241450 
liver0 / 2077430 
lung2 / 3369745
lymph0 / 442700 
lymph node0 / 916100 
mammary gland0 / 1532710 
mouth0 / 670520 
muscle1 / 1077159
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 
testis1 / 3304423
thymus0 / 811310 
thyroid0 / 474730 
tonsil0 / 169990 
trachea1 / 5241319
umbilical cord0 / 136800 
uterus0 / 2328780 
vascular0 / 517800 
Microarray in BioGPS Top
Select probe  
  • Microarray Platform: GeneAtlas U133A, gcrma
  • Affymatrix Probe ID: 213108_at
Cell line Expression level Expression bar
721_B_lymphoblasts9.25
Adipocyte7.65
AdrenalCortex10.25
Adrenalgland6.4
Amygdala108.4
Appendix9.15
AtrioventricularNode8.6
BDCA4+_DentriticCells7.55
Bonemarrow8.1
BronchialEpithelialCells7.45
CD105+_Endothelial7.45
CD14+_Monocytes7.75
CD19+_BCells(neg._sel.)8
CD33+_Myeloid9.7
CD34+9.2
CD4+_Tcells7.75
CD56+_NKCells8.6
CD71+_EarlyErythroid7.05
CD8+_Tcells6.85
CardiacMyocytes9.5
Caudatenucleus24.35
Cerebellum7.6
CerebellumPeduncles9.45
CiliaryGanglion9.35
CingulateCortex130.7
Colorectaladenocarcinoma7.4
DorsalRootGanglion7.7
FetalThyroid7.9
Fetalbrain10.55
Fetalliver6.95
Fetallung5.95
GlobusPallidus118.8
Heart9.7
Hypothalamus14.75
Kidney6.55
Leukemia_chronicMyelogenousK-5627
Leukemia_promyelocytic-HL-606.7
Leukemialymphoblastic(MOLT-4)6.05
Liver9.95
Lung8.2
Lymphnode6.7
Lymphoma_burkitts(Daudi)9.7
Lymphoma_burkitts(Raji)10.6
MedullaOblongata82.7
OccipitalLobe114.65
OlfactoryBulb6.1
Ovary5.8
Pancreas7.55
PancreaticIslet8.2
ParietalLobe34.6
Pituitary12.3
Placenta7.95
Pons63.95
PrefrontalCortex230.65
Prostate9.05
Salivarygland9.75
SkeletalMuscle19.15
Skin8.35
SmoothMuscle8.3
Spinalcord11.3
SubthalamicNucleus127
SuperiorCervicalGanglion13.15
TemporalLobe272
Testis6.6
TestisGermCell6.2
TestisIntersitial6.35
TestisLeydigCell9.2
TestisSeminiferousTubule6.4
Thalamus35.65
Thymus5.85
Thyroid9.35
Tongue11.8
Tonsil7.5
Trachea8
TrigeminalGanglion8.1
Uterus6.1
UterusCorpus7.25
WholeBlood8.25
Wholebrain116.1
colon7.5
pineal_day10.08
pineal_night8.88
retina9.125
small_intestine7.15
Allen Brain Atlas Top
Human Whole Brain Microarrayview in Allen Brain Atlas
  • Probe id     Donor id      
  • Probe name: CUST_14257_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
Amygdala9.25 ± 1.1
Basal Forebrain7.49 ± 0.51
Basal Part of Pons7.06 ± 0.53
Cerebellar Cortex6.39 ± 0.61
Cerebellar Nuclei5.09 ± 0.79
Claustrum8.33 ± 0.66
Epithalamus5.64 ± 1.28
Frontal Lobe7.7 ± 0.86
Globus Pallidus4.88 ± 2.56
Hypothalamus6.33 ± 0.95
Insula8.12 ± 0.68
Limbic Lobe8.86 ± 1.1
Mesencephalon6.85 ± 0.92
Myelencephalon7.57 ± 1.07
Occipital Lobe8.37 ± 0.79
Parietal Lobe8.23 ± 0.84
Pontine Tegmentum7.76 ± 1.25
Striatum7.19 ± 1.84
Subthalamus5.72 ± 0.42
Temporal Lobe8.24 ± 0.66
Thalamus7.47 ± 0.9
White Matter5.08 ± 1.51
Mouse Brain ISH
Peptide Top
Peptide Name Peptide Lengh Peptide Start Peptide End Peptide Sequence Source
PAp00063285 19 227 245 AGAYDFPSPEWDTVTPEAK 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