AutismKB 2.0

Annotation Detail for CACNA1B


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Basic Information Top
Gene Symbol:CACNA1B ( BIII,CACNL1A5,CACNN,Cav2.2 )
Gene Full Name: calcium channel, voltage-dependent, N type, alpha 1B subunit
Band: 9q34.3
Quick LinksEntrez ID:774; OMIM: 601012; Uniprot ID:CAC1B_HUMAN; ENSEMBL ID: ENSG00000148408; HGNC ID: 1389
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
fetus9 / 56401215
neonate0 / 310970 
infant2 / 2362084
juvenile0 / 555560 
adult8 / 19391214
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 
chondrosarcoma1 / 8282312
colorectal tumor0 / 1142460 
esophageal tumor1 / 1729057
gastrointestinal tumor0 / 1193690 
germ cell tumor1 / 2638453
glioma0 / 1068830 
head and neck tumor0 / 1363020 
kidney tumor0 / 689590 
leukemia0 / 958420 
liver tumor0 / 963590 
lung tumor1 / 1031279
lymphoma0 / 717550 
non-neoplasia2 / 9725020
normal46 / 336030713
ovarian tumor0 / 766820 
pancreatic tumor0 / 1046160 
primitive neuroectodermal tumor of the CNS0 / 1256800 
prostate cancer0 / 1026800 
retinoblastoma2 / 4635643
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 
brain34 / 110098930
cervix0 / 481710 
connective tissue0 / 1492550 
ear0 / 162120 
embryonic tissue1 / 2157224
esophagus1 / 2020949
eye2 / 2110549
heart0 / 896260 
intestine1 / 2344724
kidney0 / 2117770 
larynx0 / 241450 
liver0 / 2077430 
lung4 / 33697411
lymph0 / 442700 
lymph node0 / 916100 
mammary gland0 / 1532710 
mouth0 / 670520 
muscle1 / 1077159
nerve1 / 1576863
ovary0 / 1020510 
pancreas1 / 2148124
parathyroid0 / 205390 
pharynx0 / 413280 
pituitary gland2 / 16585120
placenta0 / 2808250 
prostate0 / 1893450 
salivary gland0 / 201550 
skin0 / 2105740 
spleen0 / 539520 
stomach0 / 966190 
testis6 / 33044218
thymus0 / 811310 
thyroid0 / 474730 
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: 207162_s_at
Cell line Expression level Expression bar
721_B_lymphoblasts4.3
Adipocyte3.35
AdrenalCortex3.55
Adrenalgland2.85
Amygdala3.6
Appendix3.35
AtrioventricularNode2.6
BDCA4+_DentriticCells3.75
Bonemarrow3.3
BronchialEpithelialCells3.35
CD105+_Endothelial3.45
CD14+_Monocytes3.6
CD19+_BCells(neg._sel.)3.6
CD33+_Myeloid4.35
CD34+4.3
CD4+_Tcells3.75
CD56+_NKCells4.05
CD71+_EarlyErythroid3.15
CD8+_Tcells3.3
CardiacMyocytes4.2
Caudatenucleus3.05
Cerebellum2.7
CerebellumPeduncles3.75
CiliaryGanglion2.35
CingulateCortex3.4
Colorectaladenocarcinoma3.35
DorsalRootGanglion2.55
FetalThyroid3.25
Fetalbrain3.4
Fetalliver2.9
Fetallung2.8
GlobusPallidus2.5
Heart4.25
Hypothalamus3.75
Kidney2.7
Leukemia_chronicMyelogenousK-5623.05
Leukemia_promyelocytic-HL-603
Leukemialymphoblastic(MOLT-4)2.7
Liver4.35
Lung3.7
Lymphnode2.9
Lymphoma_burkitts(Daudi)4.3
Lymphoma_burkitts(Raji)4.65
MedullaOblongata3.1
OccipitalLobe3
OlfactoryBulb2.65
Ovary2.2
Pancreas2.65
PancreaticIslet3.6
ParietalLobe3.55
Pituitary3.95
Placenta3.5
Pons3.15
PrefrontalCortex4.25
Prostate3.95
Salivarygland2.7
SkeletalMuscle3.9
Skin2.55
SmoothMuscle3.8
Spinalcord3.55
SubthalamicNucleus3.05
SuperiorCervicalGanglion3.7
TemporalLobe3.05
Testis2.9
TestisGermCell2.85
TestisIntersitial2.85
TestisLeydigCell3.3
TestisSeminiferousTubule2.9
Thalamus3.45
Thymus2.65
Thyroid4.2
Tongue3.25
Tonsil3.25
Trachea2.8
TrigeminalGanglion3.35
Uterus2.8
UterusCorpus2.95
WholeBlood3.75
Wholebrain2.9
colon3.4
pineal_day4.22
pineal_night4.12
retina4.1
small_intestine3.25
Allen Brain Atlas Top
Human Whole Brain Microarrayview in Allen Brain Atlas
  • Probe id     Donor id      
  • Probe name: A_23_P159622
  • 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
Amygdala4.51 ± 0.58
Basal Forebrain3.99 ± 0.67
Basal Part of Pons4.47 ± 0.39
Cerebellar Cortex4.16 ± 0.38
Cerebellar Nuclei4.4 ± 0.49
Claustrum4.59 ± 0.84
Epithalamus3.67 ± 0.27
Frontal Lobe4.34 ± 0.47
Globus Pallidus4.04 ± 0.56
Hypothalamus4.26 ± 0.71
Insula4.41 ± 0.38
Limbic Lobe4.41 ± 0.54
Mesencephalon4.26 ± 0.58
Myelencephalon4.36 ± 0.59
Occipital Lobe4.4 ± 0.63
Parietal Lobe4.33 ± 0.54
Pontine Tegmentum4.37 ± 0.5
Striatum4.63 ± 0.49
Subthalamus4.29 ± 0.33
Temporal Lobe4.36 ± 0.55
Thalamus4.37 ± 0.48
White Matter3.05 ± 0.38
Mouse Brain ISH
Gene Symbol Brain Structure ID Brain Structure Name Express Desity/Level (Meatured by ISH) Express Bar
Cacna1bCBCerebellum10.92
13.94
Cacna1bCTXCerebral cortex20.59
14.31
Cacna1bHIPHippocampal region13.82
14.12
Cacna1bHPFHippocampal formation13
11.97
Cacna1bHYHypothalamus5.52
4
Cacna1bLSXLateral septal complex4.35
2.71
Cacna1bMBMidbrain6.32
5.55
Cacna1bMYMedulla9.02
8.93
Cacna1bOLFOlfactory bulb12.44
9.24
Cacna1bPPons8.34
8.18
Cacna1bPALPallidum6.42
5.11
Cacna1bRHPRetrohippocampal region11.7
8.87
Cacna1bsAMYStriatum-like amygdalar nuclei6.74
4.19
Cacna1bSTRStriatum4.15
2.9
Cacna1bSTRdStriatum dorsal region3.37
2.54
Cacna1bSTRvStriatum ventral region5.85
3.62
Cacna1bTHThalamus15.51
11.15
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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