AutismKB 2.0

Annotation Detail for CACNA1A


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Basic Information Top
Gene Symbol:CACNA1A ( APCA,CACNL1A4,CAV2.1,EA2,FHM,HPCA,MHP,MHP1,SCA6 )
Gene Full Name: calcium channel, voltage-dependent, P/Q type, alpha 1A subunit
Band: 19p13.13
Quick LinksEntrez ID:773; OMIM: 601011; Uniprot ID:CAC1A_HUMAN; ENSEMBL ID: ENSG00000141837; HGNC ID: 1388
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 
fetus3 / 5640125
neonate0 / 310970 
infant1 / 2362042
juvenile0 / 555560 
adult19 / 19391219
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 tumor4 / 26384515
glioma4 / 10688337
head and neck tumor0 / 1363020 
kidney tumor0 / 689590 
leukemia0 / 958420 
liver tumor0 / 963590 
lung tumor3 / 10312729
lymphoma0 / 717550 
non-neoplasia0 / 972500 
normal54 / 336030716
ovarian tumor1 / 7668213
pancreatic tumor0 / 1046160 
primitive neuroectodermal tumor of the CNS0 / 1256800 
prostate cancer0 / 1026800 
retinoblastoma0 / 463560 
skin tumor0 / 1249490 
soft tissue/muscle tissue tumor2 / 12519115
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 
blood1 / 1234788
bone0 / 716550 
bone marrow0 / 488010 
brain18 / 110098916
cervix0 / 481710 
connective tissue1 / 1492556
ear0 / 162120 
embryonic tissue1 / 2157224
esophagus0 / 202090 
eye12 / 21105456
heart0 / 896260 
intestine0 / 2344720 
kidney1 / 2117774
larynx0 / 241450 
liver0 / 2077430 
lung6 / 33697417
lymph0 / 442700 
lymph node1 / 9161010
mammary gland0 / 1532710 
mouth0 / 670520 
muscle1 / 1077159
nerve0 / 157680 
ovary3 / 10205129
pancreas11 / 21481251
parathyroid0 / 205390 
pharynx0 / 413280 
pituitary gland0 / 165850 
placenta0 / 2808250 
prostate0 / 1893450 
salivary gland0 / 201550 
skin1 / 2105744
spleen0 / 539520 
stomach0 / 966190 
testis6 / 33044218
thymus0 / 811310 
thyroid0 / 474730 
tonsil1 / 1699958
trachea0 / 524130 
umbilical cord0 / 136800 
uterus1 / 2328784
vascular0 / 517800 
Microarray in BioGPS Top
Select probe  
  • Microarray Platform: GeneAtlas U133A, gcrma
  • Affymatrix Probe ID: 214933_at
Cell line Expression level Expression bar
721_B_lymphoblasts37.8
Adipocyte8
AdrenalCortex9.1
Adrenalgland9.65
Amygdala112.7
Appendix16
AtrioventricularNode7.3
BDCA4+_DentriticCells9.15
Bonemarrow9.5
BronchialEpithelialCells7.7
CD105+_Endothelial7.6
CD14+_Monocytes8.25
CD19+_BCells(neg._sel.)165.1
CD33+_Myeloid9.55
CD34+12.4
CD4+_Tcells8.6
CD56+_NKCells14.25
CD71+_EarlyErythroid7.2
CD8+_Tcells7.6
CardiacMyocytes11.1
Caudatenucleus124.6
Cerebellum750.25
CerebellumPeduncles462.3
CiliaryGanglion5.95
CingulateCortex157.55
Colorectaladenocarcinoma7.85
DorsalRootGanglion7.7
FetalThyroid7.95
Fetalbrain188.15
Fetalliver7.1
Fetallung5.85
GlobusPallidus69.4
Heart174.8
Hypothalamus93.9
Kidney7.85
Leukemia_chronicMyelogenousK-5626.6
Leukemia_promyelocytic-HL-606.75
Leukemialymphoblastic(MOLT-4)5.75
Liver14.1
Lung8.7
Lymphnode6.95
Lymphoma_burkitts(Daudi)10.7
Lymphoma_burkitts(Raji)13.8
MedullaOblongata115.6
OccipitalLobe91.45
OlfactoryBulb22.7
Ovary7.3
Pancreas6.4
PancreaticIslet10.4
ParietalLobe64.8
Pituitary9.55
Placenta8.1
Pons79.8
PrefrontalCortex472.5
Prostate8.6
Salivarygland9.4
SkeletalMuscle10
Skin7.1
SmoothMuscle8.95
Spinalcord21.3
SubthalamicNucleus74.5
SuperiorCervicalGanglion20.9
TemporalLobe36.7
Testis14.65
TestisGermCell8.2
TestisIntersitial7.5
TestisLeydigCell8.45
TestisSeminiferousTubule8.15
Thalamus129.1
Thymus5.75
Thyroid12.3
Tongue7.85
Tonsil7.7
Trachea7.3
TrigeminalGanglion8.7
Uterus6.35
UterusCorpus8.9
WholeBlood8.25
Wholebrain115.05
colon17.25
pineal_day96.82
pineal_night114.52
retina75.275
small_intestine16.1
Allen Brain Atlas Top
Human Whole Brain Microarrayview in Allen Brain Atlas
  • Probe id     Donor id      
  • Probe name: CUST_16843_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
Amygdala6.99 ± 0.42
Basal Forebrain6.71 ± 0.23
Basal Part of Pons6.72 ± 0.59
Cerebellar Cortex7.23 ± 0.35
Cerebellar Nuclei6.55 ± 0.34
Claustrum6.71 ± 0.52
Epithalamus5.97 ± 0.59
Frontal Lobe6.47 ± 0.44
Globus Pallidus6.48 ± 0.47
Hypothalamus6.3 ± 0.4
Insula6.42 ± 0.25
Limbic Lobe6.77 ± 0.56
Mesencephalon6.73 ± 0.37
Myelencephalon6.73 ± 0.53
Occipital Lobe7.24 ± 0.64
Parietal Lobe6.66 ± 0.4
Pontine Tegmentum6.51 ± 0.49
Striatum6.83 ± 0.57
Subthalamus6.3 ± 0.46
Temporal Lobe6.56 ± 0.45
Thalamus6.75 ± 0.33
White Matter6.15 ± 0.16
Mouse Brain ISH
Peptide Top
Peptide Name Peptide Lengh Peptide Start Peptide End Peptide Sequence Source
CAC1A_HUMAN_1813 7 1813 1819 NFEYLTR PRIDE

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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