AutismKB 2.0

Annotation Detail for CACNB2


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Basic Information Top
Gene Symbol:CACNB2 ( CACNLB2,CAVB2,FLJ23743,MYSB )
Gene Full Name: calcium channel, voltage-dependent, beta 2 subunit
Band: 10p12
Quick LinksEntrez ID:783; OMIM: 600003; Uniprot ID:CACB2_HUMAN; ENSEMBL ID: ENSG00000165995; HGNC ID: 1402
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 
fetus10 / 56401217
neonate0 / 310970 
infant0 / 236200 
juvenile0 / 555560 
adult47 / 193912124
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) tumor2 / 9417821
cervical tumor0 / 343660 
chondrosarcoma0 / 828230 
colorectal tumor0 / 1142460 
esophageal tumor0 / 172900 
gastrointestinal tumor1 / 1193698
germ cell tumor0 / 2638450 
glioma4 / 10688337
head and neck tumor0 / 1363020 
kidney tumor0 / 689590 
leukemia0 / 958420 
liver tumor0 / 963590 
lung tumor0 / 1031270 
lymphoma0 / 717550 
non-neoplasia1 / 9725010
normal82 / 336030724
ovarian tumor0 / 766820 
pancreatic tumor1 / 1046169
primitive neuroectodermal tumor of the CNS0 / 1256800 
prostate cancer0 / 1026800 
retinoblastoma0 / 463560 
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 gland1 / 3319730
ascites0 / 400150 
bladder0 / 297570 
blood0 / 1234780 
bone0 / 716550 
bone marrow0 / 488010 
brain49 / 110098944
cervix0 / 481710 
connective tissue0 / 1492550 
ear0 / 162120 
embryonic tissue2 / 2157229
esophagus0 / 202090 
eye3 / 21105414
heart5 / 8962655
intestine0 / 2344720 
kidney4 / 21177718
larynx0 / 241450 
liver8 / 20774338
lung2 / 3369745
lymph0 / 442700 
lymph node0 / 916100 
mammary gland3 / 15327119
mouth0 / 670520 
muscle1 / 1077159
nerve0 / 157680 
ovary0 / 1020510 
pancreas7 / 21481232
parathyroid0 / 205390 
pharynx0 / 413280 
pituitary gland2 / 16585120
placenta0 / 2808250 
prostate4 / 18934521
salivary gland0 / 201550 
skin0 / 2105740 
spleen0 / 539520 
stomach1 / 9661910
testis0 / 3304420 
thymus0 / 811310 
thyroid0 / 474730 
tonsil0 / 169990 
trachea2 / 5241338
umbilical cord0 / 136800 
uterus6 / 23287825
vascular1 / 5178019
Microarray in BioGPS Top
Select probe  
  • Microarray Platform: GeneAtlas U133A, gcrma
  • Affymatrix Probe ID: 207776_s_at
Cell line Expression level Expression bar
721_B_lymphoblasts5.4
Adipocyte5
AdrenalCortex6.65
Adrenalgland4.55
Amygdala5.8
Appendix7.55
AtrioventricularNode6.65
BDCA4+_DentriticCells5.75
Bonemarrow5.35
BronchialEpithelialCells5.35
CD105+_Endothelial5.45
CD14+_Monocytes5.7
CD19+_BCells(neg._sel.)5.6
CD33+_Myeloid6.95
CD34+7.05
CD4+_Tcells5.75
CD56+_NKCells6.25
CD71+_EarlyErythroid5.05
CD8+_Tcells5.1
CardiacMyocytes7
Caudatenucleus5.3
Cerebellum4.45
CerebellumPeduncles7.15
CiliaryGanglion4.4
CingulateCortex6.5
Colorectaladenocarcinoma5.4
DorsalRootGanglion4.3
FetalThyroid5.3
Fetalbrain5.9
Fetalliver4.65
Fetallung4.1
GlobusPallidus4.6
Heart6.9
Hypothalamus5.95
Kidney4.4
Leukemia_chronicMyelogenousK-5624.85
Leukemia_promyelocytic-HL-604.75
Leukemialymphoblastic(MOLT-4)4.35
Liver7.1
Lung5.9
Lymphnode4.5
Lymphoma_burkitts(Daudi)6.9
Lymphoma_burkitts(Raji)7.55
MedullaOblongata5.45
OccipitalLobe18.85
OlfactoryBulb4.2
Ovary3.6
Pancreas4.35
PancreaticIslet5.75
ParietalLobe7.45
Pituitary8.9
Placenta5.45
Pons8.9
PrefrontalCortex7
Prostate6.2
Salivarygland4.3
SkeletalMuscle6.8
Skin4.75
SmoothMuscle6.1
Spinalcord5.75
SubthalamicNucleus6.35
SuperiorCervicalGanglion6.55
TemporalLobe8.5
Testis4.55
TestisGermCell4.55
TestisIntersitial4.5
TestisLeydigCell5.35
TestisSeminiferousTubule5.1
Thalamus6.7
Thymus4.2
Thyroid6.6
Tongue6.2
Tonsil5.25
Trachea4.45
TrigeminalGanglion7.65
Uterus4.5
UterusCorpus4.8
WholeBlood5.95
Wholebrain6.3
colon6.7
pineal_day30.2
pineal_night28.12
retina9.95
small_intestine5.3
Allen Brain Atlas Top
Human Whole Brain Microarrayview in Allen Brain Atlas
  • Probe id     Donor id      
  • Probe name: A_32_P127501
  • 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
Amygdala6.71 ± 0.22
Basal Forebrain6.83 ± 0.15
Basal Part of Pons6.75 ± 0.23
Cerebellar Cortex7.16 ± 0.2
Cerebellar Nuclei6.18 ± 0.36
Claustrum6.67 ± 0.62
Epithalamus6.99 ± 0.41
Frontal Lobe6.85 ± 0.38
Globus Pallidus5.67 ± 0.18
Hypothalamus6.59 ± 0.61
Insula7.04 ± 0.27
Limbic Lobe6.65 ± 0.44
Mesencephalon6.72 ± 0.37
Myelencephalon6.69 ± 0.4
Occipital Lobe6.6 ± 0.44
Parietal Lobe6.7 ± 0.47
Pontine Tegmentum6.67 ± 0.53
Striatum6.24 ± 0.39
Subthalamus6.45 ± 0.23
Temporal Lobe6.86 ± 0.34
Thalamus6.7 ± 0.34
White Matter6.1 ± 0.56
Mouse Brain ISH
Gene Symbol Brain Structure ID Brain Structure Name Express Desity/Level (Meatured by ISH) Express Bar
Cacnb2CBCerebellum25.68
83.53
Cacnb2CTXCerebral cortex64.41
51.63
Cacnb2HIPHippocampal region63.99
100
Cacnb2HPFHippocampal formation65.19
92.19
Cacnb2HYHypothalamus52.01
47.39
Cacnb2LSXLateral septal complex57.35
45.47
Cacnb2MBMidbrain60.1
61.46
Cacnb2MYMedulla62.43
75.29
Cacnb2OLFOlfactory bulb63.07
59.67
Cacnb2PPons57.95
67.59
Cacnb2PALPallidum58.28
56.64
Cacnb2RHPRetrohippocampal region67.3
58.97
Cacnb2sAMYStriatum-like amygdalar nuclei78.54
62.01
Cacnb2STRStriatum100
90.92
Cacnb2STRdStriatum dorsal region100
100
Cacnb2STRvStriatum ventral region76.88
57.73
Cacnb2THThalamus92.3
100
Peptide Top
Peptide Name Peptide Lengh Peptide Start Peptide End Peptide Sequence Source
PAp00626758 12 321 332 SSLAEVQSEIER 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


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