AutismKB 2.0

Annotation Detail for CACNA1S


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Basic Information Top
Gene Symbol:CACNA1S ( CACNL1A3,CCHL1A3,Cav1.1,HOKPP,HOKPP1,MHS5,TTPP1,hypoPP )
Gene Full Name: calcium channel, voltage-dependent, L type, alpha 1S subunit
Band: 1q32.1
Quick LinksEntrez ID:779; OMIM: 114208; Uniprot ID:CAC1S_HUMAN; ENSEMBL ID: ENSG00000081248; HGNC ID: 1397
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 
fetus1 / 5640121
neonate0 / 310970 
infant0 / 236200 
juvenile0 / 555560 
adult18 / 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 tumor0 / 2638450 
glioma0 / 1068830 
head and neck tumor2 / 13630214
kidney tumor0 / 689590 
leukemia2 / 9584220
liver tumor0 / 963590 
lung tumor0 / 1031270 
lymphoma0 / 717550 
non-neoplasia0 / 972500 
normal17 / 33603075
ovarian tumor0 / 766820 
pancreatic tumor0 / 1046160 
primitive neuroectodermal tumor of the CNS0 / 1256800 
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 
brain0 / 11009890 
cervix0 / 481710 
connective tissue0 / 1492550 
ear0 / 162120 
embryonic tissue0 / 2157220 
esophagus0 / 202090 
eye0 / 2110540 
heart0 / 896260 
intestine0 / 2344720 
kidney0 / 2117770 
larynx2 / 2414582
liver1 / 2077434
lung0 / 3369740 
lymph0 / 442700 
lymph node0 / 916100 
mammary gland0 / 1532710 
mouth0 / 670520 
muscle13 / 107715120
nerve0 / 157680 
ovary0 / 1020510 
pancreas0 / 2148120 
parathyroid0 / 205390 
pharynx0 / 413280 
pituitary gland0 / 165850 
placenta0 / 2808250 
prostate1 / 1893455
salivary gland0 / 201550 
skin0 / 2105740 
spleen0 / 539520 
stomach0 / 966190 
testis0 / 3304420 
thymus0 / 811310 
thyroid3 / 4747363
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: 217515_s_at
Cell line Expression level Expression bar
721_B_lymphoblasts10.05
Adipocyte13.15
AdrenalCortex15.6
Adrenalgland11.6
Amygdala14.05
Appendix14.15
AtrioventricularNode9.2
BDCA4+_DentriticCells11.6
Bonemarrow14.15
BronchialEpithelialCells12.7
CD105+_Endothelial13.05
CD14+_Monocytes8.05
CD19+_BCells(neg._sel.)11.4
CD33+_Myeloid13.45
CD34+14.3
CD4+_Tcells13.95
CD56+_NKCells12.15
CD71+_EarlyErythroid12.9
CD8+_Tcells11.95
CardiacMyocytes18.4
Caudatenucleus12.05
Cerebellum10.45
CerebellumPeduncles15.7
CiliaryGanglion10.9
CingulateCortex15.75
Colorectaladenocarcinoma15.25
DorsalRootGanglion13.4
FetalThyroid20.35
Fetalbrain12.3
Fetalliver25.25
Fetallung10.4
GlobusPallidus6.8
Heart25.6
Hypothalamus14.5
Kidney13.75
Leukemia_chronicMyelogenousK-56212.4
Leukemia_promyelocytic-HL-609.6
Leukemialymphoblastic(MOLT-4)10.35
Liver17.95
Lung14.3
Lymphnode10.9
Lymphoma_burkitts(Daudi)17.45
Lymphoma_burkitts(Raji)20.05
MedullaOblongata12.6
OccipitalLobe9.75
OlfactoryBulb10.3
Ovary13.5
Pancreas10.8
PancreaticIslet14.35
ParietalLobe14.75
Pituitary15.4
Placenta12.95
Pons14.05
PrefrontalCortex14.35
Prostate15.4
Salivarygland9.05
SkeletalMuscle127.15
Skin10.3
SmoothMuscle15.05
Spinalcord17.55
SubthalamicNucleus12.4
SuperiorCervicalGanglion21.5
TemporalLobe11.85
Testis15.4
TestisGermCell14.45
TestisIntersitial10.35
TestisLeydigCell13.65
TestisSeminiferousTubule17.05
Thalamus11.85
Thymus10.1
Thyroid21.2
Tongue39.05
Tonsil13.1
Trachea11.05
TrigeminalGanglion14
Uterus9.85
UterusCorpus14.05
WholeBlood21.45
Wholebrain8.85
colon15.3
pineal_day27.46
pineal_night30.24
retina16.1
small_intestine12.85
Allen Brain Atlas Top
Human Whole Brain Microarrayview in Allen Brain Atlas
  • Probe id     Donor id      
  • Probe name: CUST_128_PI416408490
  • 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
Amygdala2.06 ± 0.98
Basal Forebrain1.62 ± 0.2
Basal Part of Pons1.37 ± 0.38
Cerebellar Cortex1.48 ± 0.72
Cerebellar Nuclei1.92 ± 0.68
Claustrum2.57 ± 0.85
Epithalamus1.34 ± 0.7
Frontal Lobe1.52 ± 0.72
Globus Pallidus2.3 ± 0.4
Hypothalamus1.69 ± 0.65
Insula1.54 ± 0.51
Limbic Lobe1.65 ± 0.62
Mesencephalon1.81 ± 0.71
Myelencephalon1.67 ± 0.67
Occipital Lobe1.66 ± 0.54
Parietal Lobe1.69 ± 0.8
Pontine Tegmentum1.69 ± 0.69
Striatum1.85 ± 0.53
Subthalamus1.79 ± 0.65
Temporal Lobe1.53 ± 0.56
Thalamus1.65 ± 0.59
White Matter2.21 ± 0.45
Mouse Brain ISH
Gene Symbol Brain Structure ID Brain Structure Name Express Desity/Level (Meatured by ISH) Express Bar
Cacna1sCBCerebellum3.05
3.8
Cacna1sCTXCerebral cortex2.43
2.36
Cacna1sHPFHippocampal formation2.18
2.5
Cacna1sLSXLateral septal complex0.18
0.18
Cacna1sMBMidbrain0.37
0.5
Cacna1sMYMedulla0.45
0.55
Cacna1sPALPallidum0.17
0.13
Cacna1sRHPRetrohippocampal region1.94
1.77
Cacna1ssAMYStriatum-like amygdalar nuclei0.49
0.63
Cacna1sSTRdStriatum dorsal region0.62
0.59
Cacna1sTHThalamus0.43
0.45
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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