AutismKB 2.0

Annotation Detail for CACNA1G


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Basic Information Top
Gene Symbol:CACNA1G ( Ca(V)T.1,Cav3.1,MGC117234,NBR13 )
Gene Full Name: calcium channel, voltage-dependent, T type, alpha 1G subunit
Band: 17q21.33
Quick LinksEntrez ID:8913; OMIM: 604065; Uniprot ID:CAC1G_HUMAN; ENSEMBL ID: ENSG00000006283; HGNC ID: 1394
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 
blastocyst1 / 6231916
fetus5 / 5640128
neonate0 / 310970 
infant0 / 236200 
juvenile1 / 5555617
adult4 / 19391212
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 tumor1 / 1142468
esophageal tumor0 / 172900 
gastrointestinal tumor0 / 1193690 
germ cell tumor0 / 2638450 
glioma2 / 10688318
head and neck tumor0 / 1363020 
kidney tumor0 / 689590 
leukemia0 / 958420 
liver tumor0 / 963590 
lung tumor0 / 1031270 
lymphoma0 / 717550 
non-neoplasia0 / 972500 
normal19 / 33603075
ovarian tumor0 / 766820 
pancreatic tumor1 / 1046169
primitive neuroectodermal tumor of the CNS1 / 1256807
prostate cancer0 / 1026800 
retinoblastoma5 / 46356107
skin tumor0 / 1249490 
soft tissue/muscle tissue tumor0 / 1251910 
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 
brain7 / 11009896
cervix0 / 481710 
connective tissue0 / 1492550 
ear1 / 1621261
embryonic tissue1 / 2157224
esophagus0 / 202090 
eye5 / 21105423
heart2 / 8962622
intestine1 / 2344724
kidney0 / 2117770 
larynx0 / 241450 
liver0 / 2077430 
lung2 / 3369745
lymph0 / 442700 
lymph node0 / 916100 
mammary gland0 / 1532710 
mouth0 / 670520 
muscle1 / 1077159
nerve0 / 157680 
ovary0 / 1020510 
pancreas1 / 2148124
parathyroid0 / 205390 
pharynx0 / 413280 
pituitary gland0 / 165850 
placenta0 / 2808250 
prostate1 / 1893455
salivary gland0 / 201550 
skin0 / 2105740 
spleen0 / 539520 
stomach0 / 966190 
testis1 / 3304423
thymus1 / 8113112
thyroid0 / 474730 
tonsil0 / 169990 
trachea0 / 524130 
umbilical cord0 / 136800 
uterus2 / 2328788
vascular0 / 517800 
Microarray in BioGPS Top
Select probe  
  • Microarray Platform: GeneAtlas U133A, gcrma
  • Affymatrix Probe ID: 210380_s_at
Cell line Expression level Expression bar
721_B_lymphoblasts9.45
Adipocyte9.1
AdrenalCortex13.9
Adrenalgland9.1
Amygdala13.3
Appendix13.05
AtrioventricularNode10.3
BDCA4+_DentriticCells8.2
Bonemarrow11.1
BronchialEpithelialCells9.5
CD105+_Endothelial9.85
CD14+_Monocytes11.3
CD19+_BCells(neg._sel.)10.5
CD33+_Myeloid12.6
CD34+12
CD4+_Tcells9.1
CD56+_NKCells9.55
CD71+_EarlyErythroid9.65
CD8+_Tcells8
CardiacMyocytes17.4
Caudatenucleus9.25
Cerebellum141.55
CerebellumPeduncles41.7
CiliaryGanglion11.8
CingulateCortex27.5
Colorectaladenocarcinoma10.05
DorsalRootGanglion13.75
FetalThyroid10.15
Fetalbrain55.65
Fetalliver8.9
Fetallung7.5
GlobusPallidus10
Heart17.2
Hypothalamus17.4
Kidney8.85
Leukemia_chronicMyelogenousK-5629.05
Leukemia_promyelocytic-HL-6011
Leukemialymphoblastic(MOLT-4)7.5
Liver22.3
Lung10.95
Lymphnode8.4
Lymphoma_burkitts(Daudi)13.55
Lymphoma_burkitts(Raji)16.8
MedullaOblongata9.25
OccipitalLobe13.6
OlfactoryBulb7.6
Ovary12.2
Pancreas10.1
PancreaticIslet11.1
ParietalLobe13.05
Pituitary12.15
Placenta9.9
Pons10.4
PrefrontalCortex26.4
Prostate11.55
Salivarygland8.45
SkeletalMuscle22.25
Skin11.15
SmoothMuscle11.35
Spinalcord10.8
SubthalamicNucleus15.05
SuperiorCervicalGanglion16.4
TemporalLobe10.1
Testis8.7
TestisGermCell7.75
TestisIntersitial9.5
TestisLeydigCell10.6
TestisSeminiferousTubule8.95
Thalamus128.5
Thymus7.35
Thyroid11.85
Tongue14.4
Tonsil10.4
Trachea8.55
TrigeminalGanglion14.35
Uterus8.05
UterusCorpus12.85
WholeBlood10.5
Wholebrain15.45
colon9.7
pineal_day217.72
pineal_night213.66
retina17.075
small_intestine9.6
Allen Brain Atlas Top
Human Whole Brain Microarrayview in Allen Brain Atlas
  • Probe id     Donor id      
  • Probe name: CUST_12173_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
Amygdala2.92 ± 1.02
Basal Forebrain2.84 ± 0.46
Basal Part of Pons2.93 ± 0.64
Cerebellar Cortex3.63 ± 0.32
Cerebellar Nuclei3.11 ± 0.46
Claustrum3.57 ± 0.66
Epithalamus2.51 ± 0.62
Frontal Lobe3.16 ± 0.69
Globus Pallidus1.95 ± 0.58
Hypothalamus2.78 ± 0.69
Insula3.53 ± 0.34
Limbic Lobe2.73 ± 0.65
Mesencephalon3.21 ± 0.66
Myelencephalon3.09 ± 0.78
Occipital Lobe3.13 ± 0.72
Parietal Lobe3.09 ± 0.66
Pontine Tegmentum3.01 ± 0.65
Striatum2.22 ± 0.66
Subthalamus3.29 ± 0.49
Temporal Lobe3.27 ± 0.6
Thalamus3.79 ± 0.62
White Matter1.76 ± 0.29
Mouse Brain ISH
Gene Symbol Brain Structure ID Brain Structure Name Express Desity/Level (Meatured by ISH) Express Bar
Cacna1gCBCerebellum31.52
100
Cacna1gCTXCerebral cortex99.4
83.19
Cacna1gHIPHippocampal region28.87
42.95
Cacna1gHPFHippocampal formation44.43
52.95
Cacna1gHYHypothalamus89.15
74.87
Cacna1gLSXLateral septal complex100
100
Cacna1gMBMidbrain74.52
69.97
Cacna1gMYMedulla38.4
47.54
Cacna1gOLFOlfactory bulb79.81
81.16
Cacna1gPPons37
36.48
Cacna1gPALPallidum42.62
36.62
Cacna1gRHPRetrohippocampal region63.09
61.65
Cacna1gsAMYStriatum-like amygdalar nuclei85.72
69.67
Cacna1gSTRStriatum25.75
21.21
Cacna1gSTRdStriatum dorsal region7.95
6.78
Cacna1gSTRvStriatum ventral region15.2
11.69
Cacna1gTHThalamus100
100
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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