AutismKB 2.0

Annotation Detail for CACNA1C


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Basic Information Top
Gene Symbol:CACNA1C ( CACH2,CACN2,CACNL1A1,CCHL1A1,CaV1.2,MGC120730,TS )
Gene Full Name: calcium channel, voltage-dependent, L type, alpha 1C subunit
Band: 12p13.33
Quick LinksEntrez ID:775; OMIM: 114205; Uniprot ID:CAC1C_HUMAN; ENSEMBL ID: ENSG00000151067; HGNC ID: 1390
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 
fetus13 / 56401223
neonate0 / 310970 
infant1 / 2362042
juvenile0 / 555560 
adult42 / 193912121
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) tumor4 / 9417842
cervical tumor0 / 343660 
chondrosarcoma0 / 828230 
colorectal tumor2 / 11424617
esophageal tumor0 / 172900 
gastrointestinal tumor1 / 1193698
germ cell tumor7 / 26384526
glioma1 / 1068839
head and neck tumor0 / 1363020 
kidney tumor0 / 689590 
leukemia0 / 958420 
liver tumor0 / 963590 
lung tumor0 / 1031270 
lymphoma0 / 717550 
non-neoplasia1 / 9725010
normal83 / 336030724
ovarian tumor2 / 7668226
pancreatic tumor1 / 1046169
primitive neuroectodermal tumor of the CNS0 / 1256800 
prostate cancer0 / 1026800 
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 gland0 / 331970 
ascites0 / 400150 
bladder0 / 297570 
blood0 / 1234780 
bone0 / 716550 
bone marrow0 / 488010 
brain32 / 110098929
cervix0 / 481710 
connective tissue1 / 1492556
ear0 / 162120 
embryonic tissue2 / 2157229
esophagus0 / 202090 
eye4 / 21105418
heart1 / 8962611
intestine7 / 23447229
kidney0 / 2117770 
larynx0 / 241450 
liver1 / 2077434
lung1 / 3369742
lymph0 / 442700 
lymph node0 / 916100 
mammary gland5 / 15327132
mouth0 / 670520 
muscle0 / 1077150 
nerve0 / 157680 
ovary2 / 10205119
pancreas2 / 2148129
parathyroid0 / 205390 
pharynx0 / 413280 
pituitary gland0 / 165850 
placenta7 / 28082524
prostate4 / 18934521
salivary gland0 / 201550 
skin1 / 2105744
spleen4 / 5395274
stomach1 / 9661910
testis12 / 33044236
thymus2 / 8113124
thyroid1 / 4747321
tonsil0 / 169990 
trachea0 / 524130 
umbilical cord0 / 136800 
uterus9 / 23287838
vascular0 / 517800 
Microarray in BioGPS Top
Select probe  
  • Microarray Platform: GeneAtlas U133A, gcrma
  • Affymatrix Probe ID: 208020_s_at
Cell line Expression level Expression bar
721_B_lymphoblasts5.65
Adipocyte4.55
AdrenalCortex5.1
Adrenalgland3.95
Amygdala4.8
Appendix5
AtrioventricularNode3.75
BDCA4+_DentriticCells5
Bonemarrow4.7
BronchialEpithelialCells4.5
CD105+_Endothelial4.7
CD14+_Monocytes4.85
CD19+_BCells(neg._sel.)5.05
CD33+_Myeloid5.85
CD34+6.15
CD4+_Tcells4.9
CD56+_NKCells5.4
CD71+_EarlyErythroid4.35
CD8+_Tcells4.35
CardiacMyocytes6.15
Caudatenucleus4.15
Cerebellum3.75
CerebellumPeduncles5.35
CiliaryGanglion3.45
CingulateCortex4.8
Colorectaladenocarcinoma4.65
DorsalRootGanglion3.65
FetalThyroid4.5
Fetalbrain4.55
Fetalliver4.05
Fetallung3.7
GlobusPallidus3.6
Heart6.2
Hypothalamus5
Kidney3.9
Leukemia_chronicMyelogenousK-5624.2
Leukemia_promyelocytic-HL-604.1
Leukemialymphoblastic(MOLT-4)3.7
Liver6.2
Lung5
Lymphnode3.9
Lymphoma_burkitts(Daudi)6
Lymphoma_burkitts(Raji)6.6
MedullaOblongata4.2
OccipitalLobe4.15
OlfactoryBulb3.65
Ovary3.1
Pancreas3.75
PancreaticIslet4.95
ParietalLobe4.95
Pituitary5.4
Placenta4.65
Pons4.5
PrefrontalCortex5.65
Prostate5.35
Salivarygland3.75
SkeletalMuscle5.75
Skin3.75
SmoothMuscle5.25
Spinalcord4.95
SubthalamicNucleus4.3
SuperiorCervicalGanglion5.55
TemporalLobe4.25
Testis3.95
TestisGermCell3.85
TestisIntersitial3.9
TestisLeydigCell4.8
TestisSeminiferousTubule3.95
Thalamus4.75
Thymus3.55
Thyroid5.7
Tongue4.65
Tonsil4.5
Trachea3.85
TrigeminalGanglion4.85
Uterus3.75
UterusCorpus4.3
WholeBlood5
Wholebrain3.75
colon4.6
pineal_day5.7
pineal_night5.62
retina5.6
small_intestine4.45
Allen Brain Atlas Top
Human Whole Brain Microarrayview in Allen Brain Atlas
  • Probe id     Donor id      
  • Probe name: CUST_123_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
Amygdala8.06 ± 0.52
Basal Forebrain7.59 ± 0.41
Basal Part of Pons8.41 ± 0.29
Cerebellar Cortex7.9 ± 0.21
Cerebellar Nuclei7.48 ± 0.45
Claustrum8.2 ± 0.3
Epithalamus7.08 ± 0.68
Frontal Lobe7.77 ± 0.38
Globus Pallidus6.18 ± 0.54
Hypothalamus7.54 ± 0.38
Insula8 ± 0.37
Limbic Lobe7.84 ± 0.61
Mesencephalon7.57 ± 0.55
Myelencephalon7.85 ± 0.53
Occipital Lobe8.61 ± 0.42
Parietal Lobe8.09 ± 0.42
Pontine Tegmentum7.85 ± 0.35
Striatum7.99 ± 0.49
Subthalamus7.24 ± 0.24
Temporal Lobe8.18 ± 0.36
Thalamus8.47 ± 0.38
White Matter5.78 ± 0.19
Mouse Brain ISH
Gene Symbol Brain Structure ID Brain Structure Name Express Desity/Level (Meatured by ISH) Express Bar
Cacna1cCBCerebellum12.26
12.47
Cacna1cCTXCerebral cortex37.29
27
Cacna1cHIPHippocampal region32.27
53.92
Cacna1cHPFHippocampal formation26.93
37.89
Cacna1cHYHypothalamus18.37
12.85
Cacna1cLSXLateral septal complex3.15
1.95
Cacna1cMBMidbrain22.26
18.29
Cacna1cMYMedulla34.55
33.93
Cacna1cOLFOlfactory bulb54.63
50.2
Cacna1cPPons34.47
31.88
Cacna1cPALPallidum17.93
13.68
Cacna1cRHPRetrohippocampal region15.94
13.61
Cacna1csAMYStriatum-like amygdalar nuclei48.53
33.59
Cacna1cSTRStriatum32.02
21.77
Cacna1cSTRdStriatum dorsal region29.51
19.94
Cacna1cSTRvStriatum ventral region48.14
31.61
Cacna1cTHThalamus82.87
79.15
Peptide Top
Peptide Name Peptide Lengh Peptide Start Peptide End Peptide Sequence Source
PAp01039288 13 1478 1490 KCAPESEPSNSTE 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