AutismKB 2.0

Annotation Detail for CACNA1E


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Basic Information Top
Gene Symbol:CACNA1E ( BII,CACH6,CACNL1A6,Cav2.3 )
Gene Full Name: calcium channel, voltage-dependent, R type, alpha 1E subunit
Band: 1q25.3
Quick LinksEntrez ID:777; OMIM: 601013; Uniprot ID:CAC1E_HUMAN; ENSEMBL ID: ENSG00000198216; HGNC ID: 1392
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 body1 / 7076114
blastocyst0 / 623190 
fetus25 / 56401244
neonate0 / 310970 
infant2 / 2362084
juvenile0 / 555560 
adult11 / 19391215
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 tumor1 / 1193698
germ cell tumor0 / 2638450 
glioma1 / 1068839
head and neck tumor1 / 1363027
kidney tumor0 / 689590 
leukemia0 / 958420 
liver tumor0 / 963590 
lung tumor0 / 1031270 
lymphoma0 / 717550 
non-neoplasia2 / 9725020
normal63 / 336030718
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 
brain51 / 110098946
cervix0 / 481710 
connective tissue0 / 1492550 
ear0 / 162120 
embryonic tissue1 / 2157224
esophagus0 / 202090 
eye0 / 2110540 
heart0 / 896260 
intestine0 / 2344720 
kidney1 / 2117774
larynx0 / 241450 
liver0 / 2077430 
lung13 / 33697438
lymph0 / 442700 
lymph node0 / 916100 
mammary gland0 / 1532710 
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 
stomach1 / 9661910
testis0 / 3304420 
thymus0 / 811310 
thyroid1 / 4747321
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: 208432_s_at
Cell line Expression level Expression bar
721_B_lymphoblasts4.9
Adipocyte3.85
AdrenalCortex4.1
Adrenalgland3.4
Amygdala4
Appendix3.9
AtrioventricularNode3.5
BDCA4+_DentriticCells4.25
Bonemarrow3.8
BronchialEpithelialCells3.85
CD105+_Endothelial3.95
CD14+_Monocytes4.2
CD19+_BCells(neg._sel.)4.15
CD33+_Myeloid5.1
CD34+4.9
CD4+_Tcells4.2
CD56+_NKCells4.7
CD71+_EarlyErythroid3.65
CD8+_Tcells3.75
CardiacMyocytes5.05
Caudatenucleus3.5
Cerebellum3.15
CerebellumPeduncles4.4
CiliaryGanglion2.8
CingulateCortex4
Colorectaladenocarcinoma3.9
DorsalRootGanglion3
FetalThyroid3.8
Fetalbrain3.9
Fetalliver3.35
Fetallung3.2
GlobusPallidus2.85
Heart4.95
Hypothalamus4.2
Kidney3.15
Leukemia_chronicMyelogenousK-5623.55
Leukemia_promyelocytic-HL-603.4
Leukemialymphoblastic(MOLT-4)3.1
Liver5.15
Lung4.3
Lymphnode3.35
Lymphoma_burkitts(Daudi)5.05
Lymphoma_burkitts(Raji)5.5
MedullaOblongata3.55
OccipitalLobe3.5
OlfactoryBulb3.05
Ovary2.55
Pancreas3.15
PancreaticIslet4.15
ParietalLobe4.1
Pituitary4.55
Placenta4
Pons3.7
PrefrontalCortex4.75
Prostate4.5
Salivarygland3.1
SkeletalMuscle4.55
Skin3
SmoothMuscle4.4
Spinalcord4.15
SubthalamicNucleus3.55
SuperiorCervicalGanglion4.4
TemporalLobe3.55
Testis3.3
TestisGermCell3.2
TestisIntersitial3.25
TestisLeydigCell3.95
TestisSeminiferousTubule3.35
Thalamus3.9
Thymus3.05
Thyroid4.85
Tongue3.8
Tonsil3.8
Trachea3.2
TrigeminalGanglion3.9
Uterus3.15
UterusCorpus3.5
WholeBlood4.2
Wholebrain3.3
colon3.9
pineal_day4.86
pineal_night4.72
retina4.675
small_intestine3.75
Allen Brain Atlas Top
Human Whole Brain Microarrayview in Allen Brain Atlas
  • Probe id     Donor id      
  • Probe name: CUST_6489_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
Amygdala5.44 ± 0.62
Basal Forebrain4.5 ± 0.42
Basal Part of Pons4.42 ± 0.45
Cerebellar Cortex3.74 ± 0.53
Cerebellar Nuclei3.36 ± 0.44
Claustrum5.75 ± 0.62
Epithalamus4.07 ± 0.38
Frontal Lobe4.21 ± 0.79
Globus Pallidus2.82 ± 1.4
Hypothalamus4.32 ± 0.76
Insula4.6 ± 0.74
Limbic Lobe5.36 ± 0.65
Mesencephalon4.5 ± 0.79
Myelencephalon4.49 ± 0.88
Occipital Lobe4.59 ± 0.78
Parietal Lobe4.54 ± 0.92
Pontine Tegmentum4.31 ± 0.81
Striatum5.97 ± 0.55
Subthalamus3.92 ± 0.42
Temporal Lobe4.74 ± 0.64
Thalamus3.57 ± 0.81
White Matter2.27 ± 1.31
Mouse Brain ISH
Gene Symbol Brain Structure ID Brain Structure Name Express Desity/Level (Meatured by ISH) Express Bar
Cacna1eCBCerebellum68.89
88.17
Cacna1eCTXCerebral cortex100
100
Cacna1eHIPHippocampal region100
100
Cacna1eHPFHippocampal formation100
100
Cacna1eHYHypothalamus100
62.62
Cacna1eLSXLateral septal complex100
100
Cacna1eMBMidbrain89.93
51.73
Cacna1eMYMedulla51.84
35.77
Cacna1eOLFOlfactory bulb100
100
Cacna1ePPons71.72
46.72
Cacna1ePALPallidum100
65.29
Cacna1eRHPRetrohippocampal region100
100
Cacna1esAMYStriatum-like amygdalar nuclei100
94.87
Cacna1eSTRStriatum100
100
Cacna1eSTRdStriatum dorsal region100
100
Cacna1eSTRvStriatum ventral region100
100
Cacna1eTHThalamus37.39
25
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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