AutismKB 2.0

Annotation Detail for CACNA1D


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Basic Information Top
Gene Symbol:CACNA1D ( CACH3,CACN4,CACNL1A2,CCHL1A2,Cav1.3 )
Gene Full Name: calcium channel, voltage-dependent, L type, alpha 1D subunit
Band: 3p21.1
Quick LinksEntrez ID:776; OMIM: 114206; Uniprot ID:CAC1D_HUMAN; ENSEMBL ID: ENSG00000157388; HGNC ID: 1391
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 
fetus2 / 5640123
neonate0 / 310970 
infant0 / 236200 
juvenile0 / 555560 
adult26 / 193912113
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) tumor1 / 9417810
cervical tumor0 / 343660 
chondrosarcoma0 / 828230 
colorectal tumor9 / 11424678
esophageal tumor0 / 172900 
gastrointestinal tumor2 / 11936916
germ cell tumor1 / 2638453
glioma1 / 1068839
head and neck tumor2 / 13630214
kidney tumor1 / 6895914
leukemia0 / 958420 
liver tumor0 / 963590 
lung tumor1 / 1031279
lymphoma0 / 717550 
non-neoplasia1 / 9725010
normal32 / 33603079
ovarian tumor0 / 766820 
pancreatic tumor5 / 10461647
primitive neuroectodermal tumor of the CNS0 / 1256800 
prostate cancer3 / 10268029
retinoblastoma0 / 463560 
skin tumor0 / 1249490 
soft tissue/muscle tissue tumor1 / 1251917
uterine tumor1 / 9025711
Pool Name Gene EST/Total EST in pool Transcripts per million(TPM) Bar based on TPM
adipose tissue0 / 131060 
adrenal gland1 / 3319730
ascites0 / 400150 
bladder0 / 297570 
blood0 / 1234780 
bone3 / 7165541
bone marrow0 / 488010 
brain13 / 110098911
cervix0 / 481710 
connective tissue1 / 1492556
ear0 / 162120 
embryonic tissue0 / 2157220 
esophagus0 / 202090 
eye3 / 21105414
heart1 / 8962611
intestine12 / 23447251
kidney2 / 2117779
larynx0 / 241450 
liver0 / 2077430 
lung17 / 33697450
lymph0 / 442700 
lymph node0 / 916100 
mammary gland2 / 15327113
mouth0 / 670520 
muscle1 / 1077159
nerve0 / 157680 
ovary0 / 1020510 
pancreas9 / 21481241
parathyroid0 / 205390 
pharynx0 / 413280 
pituitary gland1 / 1658560
placenta1 / 2808253
prostate2 / 18934510
salivary gland0 / 201550 
skin0 / 2105740 
spleen0 / 539520 
stomach2 / 9661920
testis0 / 3304420 
thymus0 / 811310 
thyroid1 / 4747321
tonsil0 / 169990 
trachea1 / 5241319
umbilical cord0 / 136800 
uterus1 / 2328784
vascular0 / 517800 
Microarray in BioGPS Top
Select probe  
  • Microarray Platform: GeneAtlas U133A, gcrma
  • Affymatrix Probe ID: 210108_at
Cell line Expression level Expression bar
721_B_lymphoblasts6.9
Adipocyte6
AdrenalCortex7.45
Adrenalgland5.75
Amygdala6.4
Appendix7.7
AtrioventricularNode5.7
BDCA4+_DentriticCells6.15
Bonemarrow6.5
BronchialEpithelialCells5.85
CD105+_Endothelial6.1
CD14+_Monocytes6.5
CD19+_BCells(neg._sel.)7.45
CD33+_Myeloid7.55
CD34+7.4
CD4+_Tcells6.3
CD56+_NKCells6.8
CD71+_EarlyErythroid5.75
CD8+_Tcells5.45
CardiacMyocytes8.3
Caudatenucleus5.55
Cerebellum5
CerebellumPeduncles7.45
CiliaryGanglion5.55
CingulateCortex6.4
Colorectaladenocarcinoma5.95
DorsalRootGanglion5.45
FetalThyroid6.05
Fetalbrain6.05
Fetalliver5.35
Fetallung5.35
GlobusPallidus4.9
Heart8.25
Hypothalamus6.5
Kidney5.5
Leukemia_chronicMyelogenousK-5625.5
Leukemia_promyelocytic-HL-605.4
Leukemialymphoblastic(MOLT-4)4.7
Liver8.85
Lung6.6
Lymphnode5.1
Lymphoma_burkitts(Daudi)8.05
Lymphoma_burkitts(Raji)9.15
MedullaOblongata5.55
OccipitalLobe5.45
OlfactoryBulb4.85
Ovary4.4
Pancreas5.05
PancreaticIslet6.85
ParietalLobe6.8
Pituitary7.75
Placenta6.1
Pons6
PrefrontalCortex7.9
Prostate6.9
Salivarygland5.05
SkeletalMuscle11.8
Skin5.45
SmoothMuscle6.85
Spinalcord6.5
SubthalamicNucleus6.95
SuperiorCervicalGanglion9.35
TemporalLobe5.8
Testis5.2
TestisGermCell4.95
TestisIntersitial5.15
TestisLeydigCell7.5
TestisSeminiferousTubule5.2
Thalamus6.5
Thymus4.65
Thyroid7.4
Tongue6.85
Tonsil6.05
Trachea5.1
TrigeminalGanglion6.9
Uterus4.9
UterusCorpus5.95
WholeBlood6.55
Wholebrain4.95
colon6.05
pineal_day16.08
pineal_night10.84
retina7.375
small_intestine5.85
Allen Brain Atlas Top
Human Whole Brain Microarrayview in Allen Brain Atlas
  • Probe id     Donor id      
  • Probe name: CUST_124_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
Amygdala5.3 ± 0.55
Basal Forebrain4.68 ± 0.15
Basal Part of Pons4.45 ± 0.56
Cerebellar Cortex4.69 ± 0.53
Cerebellar Nuclei4.48 ± 0.39
Claustrum5.25 ± 0.79
Epithalamus4 ± 0.64
Frontal Lobe4.43 ± 0.65
Globus Pallidus4.12 ± 0.43
Hypothalamus3.91 ± 0.47
Insula4.6 ± 0.58
Limbic Lobe5.03 ± 0.58
Mesencephalon4.67 ± 0.65
Myelencephalon4.66 ± 0.6
Occipital Lobe5.26 ± 0.59
Parietal Lobe4.87 ± 0.58
Pontine Tegmentum4.68 ± 0.68
Striatum4.71 ± 0.6
Subthalamus4.74 ± 0.55
Temporal Lobe4.79 ± 0.51
Thalamus4.82 ± 0.61
White Matter3.89 ± 1.12
Mouse Brain ISH
Gene Symbol Brain Structure ID Brain Structure Name Express Desity/Level (Meatured by ISH) Express Bar
Cacna1dCBCerebellum52.37
48.35
Cacna1dCTXCerebral cortex100
100
Cacna1dHIPHippocampal region94.12
100
Cacna1dHPFHippocampal formation91.96
100
Cacna1dHYHypothalamus81.27
64.23
Cacna1dLSXLateral septal complex100
75.44
Cacna1dMBMidbrain61.46
50.31
Cacna1dMYMedulla57.1
52.36
Cacna1dOLFOlfactory bulb100
100
Cacna1dPPons39.53
37.24
Cacna1dPALPallidum71.03
59.45
Cacna1dRHPRetrohippocampal region88.57
72.18
Cacna1dsAMYStriatum-like amygdalar nuclei100
81.01
Cacna1dSTRStriatum88.47
63.17
Cacna1dSTRdStriatum dorsal region75.48
51.98
Cacna1dSTRvStriatum ventral region100
81.8
Cacna1dTHThalamus84.81
70.27
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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