AutismKB 2.0

Annotation Detail for CACNA1H


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Basic Information Top
Gene Symbol:CACNA1H ( CACNA1HB,Cav3.2,ECA6,EIG6,FLJ90484 )
Gene Full Name: calcium channel, voltage-dependent, T type, alpha 1H subunit
Band: 16p13.3
Quick LinksEntrez ID:8912; OMIM: 607904; Uniprot ID:CAC1H_HUMAN; ENSEMBL ID: ENSG00000196557; HGNC ID: 1395
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 body4 / 7076156
blastocyst1 / 6231916
fetus8 / 56401214
neonate0 / 310970 
infant0 / 236200 
juvenile1 / 5555617
adult31 / 193912115
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 tumor1 / 1142468
esophageal tumor0 / 172900 
gastrointestinal tumor0 / 1193690 
germ cell tumor6 / 26384522
glioma0 / 1068830 
head and neck tumor0 / 1363020 
kidney tumor2 / 6895929
leukemia0 / 958420 
liver tumor0 / 963590 
lung tumor0 / 1031270 
lymphoma0 / 717550 
non-neoplasia0 / 972500 
normal57 / 336030716
ovarian tumor3 / 7668239
pancreatic tumor0 / 1046160 
primitive neuroectodermal tumor of the CNS2 / 12568015
prostate cancer1 / 1026809
retinoblastoma2 / 4635643
skin tumor0 / 1249490 
soft tissue/muscle tissue tumor1 / 1251917
uterine tumor5 / 9025755
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 
bone2 / 7165527
bone marrow0 / 488010 
brain11 / 11009899
cervix1 / 4817120
connective tissue0 / 1492550 
ear0 / 162120 
embryonic tissue5 / 21572223
esophagus0 / 202090 
eye4 / 21105418
heart0 / 896260 
intestine2 / 2344728
kidney3 / 21177714
larynx0 / 241450 
liver0 / 2077430 
lung1 / 3369742
lymph0 / 442700 
lymph node0 / 916100 
mammary gland4 / 15327126
mouth2 / 6705229
muscle0 / 1077150 
nerve0 / 157680 
ovary4 / 10205139
pancreas13 / 21481260
parathyroid1 / 2053948
pharynx0 / 413280 
pituitary gland0 / 165850 
placenta0 / 2808250 
prostate9 / 18934547
salivary gland0 / 201550 
skin3 / 21057414
spleen0 / 539520 
stomach0 / 966190 
testis10 / 33044230
thymus0 / 811310 
thyroid1 / 4747321
tonsil0 / 169990 
trachea0 / 524130 
umbilical cord0 / 136800 
uterus10 / 23287842
vascular0 / 517800 
Microarray in BioGPS Top
Select probe  
  • Microarray Platform: GeneAtlas U133A, gcrma
  • Affymatrix Probe ID: 205845_at
Cell line Expression level Expression bar
721_B_lymphoblasts3.45
Adipocyte2.7
AdrenalCortex7.75
Adrenalgland2.45
Amygdala2.95
Appendix2.75
AtrioventricularNode2.05
BDCA4+_DentriticCells3.1
Bonemarrow2.65
BronchialEpithelialCells2.75
CD105+_Endothelial2.75
CD14+_Monocytes2.95
CD19+_BCells(neg._sel.)2.95
CD33+_Myeloid3.55
CD34+3.5
CD4+_Tcells3
CD56+_NKCells3.3
CD71+_EarlyErythroid2.55
CD8+_Tcells2.7
CardiacMyocytes3.35
Caudatenucleus2.45
Cerebellum2.25
CerebellumPeduncles3.05
CiliaryGanglion1.85
CingulateCortex2.8
Colorectaladenocarcinoma2.75
DorsalRootGanglion2
FetalThyroid2.65
Fetalbrain4.2
Fetalliver2.3
Fetallung2.3
GlobusPallidus1.95
Heart3.4
Hypothalamus3
Kidney2.2
Leukemia_chronicMyelogenousK-5622.45
Leukemia_promyelocytic-HL-602.4
Leukemialymphoblastic(MOLT-4)2.25
Liver3.55
Lung3.1
Lymphnode2.4
Lymphoma_burkitts(Daudi)3.45
Lymphoma_burkitts(Raji)3.75
MedullaOblongata2.5
OccipitalLobe2.5
OlfactoryBulb2.15
Ovary1.85
Pancreas2.2
PancreaticIslet2.9
ParietalLobe2.8
Pituitary3.3
Placenta2.85
Pons2.55
PrefrontalCortex3.5
Prostate3.25
Salivarygland2.2
SkeletalMuscle3
Skin2.05
SmoothMuscle3.15
Spinalcord2.9
SubthalamicNucleus2.45
SuperiorCervicalGanglion3
TemporalLobe2.45
Testis2.5
TestisGermCell2.35
TestisIntersitial2.55
TestisLeydigCell2.7
TestisSeminiferousTubule2.4
Thalamus2.8
Thymus2.25
Thyroid3.45
Tongue2.65
Tonsil2.65
Trachea2.3
TrigeminalGanglion2.65
Uterus2.8
UterusCorpus2.4
WholeBlood3
Wholebrain2.4
colon2.8
pineal_day4.22
pineal_night3.54
retina3.35
small_intestine2.65
Allen Brain Atlas Top
Human Whole Brain Microarrayview in Allen Brain Atlas
  • Probe id     Donor id      
  • Probe name: A_23_P3483
  • 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
Amygdala6.43 ± 0.57
Basal Forebrain6.27 ± 0.46
Basal Part of Pons5.44 ± 0.75
Cerebellar Cortex5.3 ± 0.24
Cerebellar Nuclei5.69 ± 0.55
Claustrum5.99 ± 0.48
Epithalamus4.85 ± 0.58
Frontal Lobe5.98 ± 0.5
Globus Pallidus5.46 ± 0.44
Hypothalamus5.92 ± 0.22
Insula6.03 ± 0.45
Limbic Lobe6.16 ± 0.55
Mesencephalon5.86 ± 0.75
Myelencephalon5.82 ± 0.73
Occipital Lobe4.81 ± 0.69
Parietal Lobe5.45 ± 0.63
Pontine Tegmentum5.8 ± 0.69
Striatum7.48 ± 0.4
Subthalamus5.4 ± 0.69
Temporal Lobe5.93 ± 0.6
Thalamus5.38 ± 0.55
White Matter4.33 ± 0.42
Mouse Brain ISH
Gene Symbol Brain Structure ID Brain Structure Name Express Desity/Level (Meatured by ISH) Express Bar
Cacna1hCBCerebellum17.11
20.61
Cacna1hCTXCerebral cortex56.15
50.86
Cacna1hHIPHippocampal region97.37
100
Cacna1hHPFHippocampal formation85.79
98.4
Cacna1hHYHypothalamus48.95
40.6
Cacna1hLSXLateral septal complex55.23
42.15
Cacna1hMBMidbrain44.09
42.84
Cacna1hMYMedulla29.01
32.99
Cacna1hOLFOlfactory bulb85.58
89.95
Cacna1hPPons30.29
31.72
Cacna1hPALPallidum50.48
49.18
Cacna1hRHPRetrohippocampal region74.89
75.36
Cacna1hsAMYStriatum-like amygdalar nuclei69.34
63.61
Cacna1hSTRStriatum89.02
79.98
Cacna1hSTRdStriatum dorsal region97.65
85.89
Cacna1hSTRvStriatum ventral region87.02
81.45
Cacna1hTHThalamus24.93
23.15
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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