AutismKB 2.0

Annotation Detail for CACNB1


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Basic Information Top
Gene Symbol:CACNB1 ( CAB1,CACNLB1,CCHLB1,MGC41896 )
Gene Full Name: calcium channel, voltage-dependent, beta 1 subunit
Band: 17q12
Quick LinksEntrez ID:782; OMIM: 114207; Uniprot ID:CACB1_HUMAN; ENSEMBL ID: ENSG00000067191; HGNC ID: 1401
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 
fetus24 / 56401242
neonate0 / 310970 
infant0 / 236200 
juvenile2 / 5555635
adult30 / 193912115
Pool Name Gene EST/Total EST in pool Transcripts per million(TPM) Bar based on TPM
adrenal tumor0 / 127940 
bladder carcinoma1 / 1747557
breast (mammary gland) tumor1 / 9417810
cervical tumor2 / 3436658
chondrosarcoma2 / 8282324
colorectal tumor0 / 1142460 
esophageal tumor0 / 172900 
gastrointestinal tumor1 / 1193698
germ cell tumor1 / 2638453
glioma5 / 10688346
head and neck tumor1 / 1363027
kidney tumor1 / 6895914
leukemia2 / 9584220
liver tumor0 / 963590 
lung tumor2 / 10312719
lymphoma0 / 717550 
non-neoplasia0 / 972500 
normal102 / 336030730
ovarian tumor0 / 766820 
pancreatic tumor1 / 1046169
primitive neuroectodermal tumor of the CNS1 / 1256807
prostate cancer0 / 1026800 
retinoblastoma1 / 4635621
skin tumor2 / 12494916
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 
bladder1 / 2975733
blood0 / 1234780 
bone3 / 7165541
bone marrow0 / 488010 
brain63 / 110098957
cervix2 / 4817141
connective tissue0 / 1492550 
ear0 / 162120 
embryonic tissue1 / 2157224
esophagus0 / 202090 
eye5 / 21105423
heart8 / 8962689
intestine1 / 2344724
kidney1 / 2117774
larynx0 / 241450 
liver1 / 2077434
lung6 / 33697417
lymph0 / 442700 
lymph node1 / 9161010
mammary gland2 / 15327113
mouth1 / 6705214
muscle13 / 107715120
nerve4 / 15768253
ovary0 / 1020510 
pancreas1 / 2148124
parathyroid0 / 205390 
pharynx0 / 413280 
pituitary gland0 / 165850 
placenta0 / 2808250 
prostate4 / 18934521
salivary gland0 / 201550 
skin3 / 21057414
spleen0 / 539520 
stomach1 / 9661910
testis2 / 3304426
thymus4 / 8113149
thyroid0 / 474730 
tonsil0 / 169990 
trachea2 / 5241338
umbilical cord0 / 136800 
uterus3 / 23287812
vascular0 / 517800 
Microarray in BioGPS Top
Select probe  
  • Microarray Platform: GeneAtlas U133A, gcrma
  • Affymatrix Probe ID: 210185_at
Cell line Expression level Expression bar
721_B_lymphoblasts6.85
Adipocyte4.9
AdrenalCortex5.75
Adrenalgland4.5
Amygdala12.1
Appendix5.35
AtrioventricularNode4.35
BDCA4+_DentriticCells5.5
Bonemarrow5.3
BronchialEpithelialCells5.15
CD105+_Endothelial5.2
CD14+_Monocytes5.55
CD19+_BCells(neg._sel.)5.35
CD33+_Myeloid6.5
CD34+6.2
CD4+_Tcells5.85
CD56+_NKCells6.25
CD71+_EarlyErythroid4.85
CD8+_Tcells5.3
CardiacMyocytes7.35
Caudatenucleus6
Cerebellum4.4
CerebellumPeduncles6
CiliaryGanglion6.25
CingulateCortex13.55
Colorectaladenocarcinoma5.35
DorsalRootGanglion4.6
FetalThyroid4.95
Fetalbrain6.45
Fetalliver4.6
Fetallung4.25
GlobusPallidus6.65
Heart6.85
Hypothalamus9.95
Kidney4.3
Leukemia_chronicMyelogenousK-5624.7
Leukemia_promyelocytic-HL-604.45
Leukemialymphoblastic(MOLT-4)4.75
Liver7.1
Lung5.75
Lymphnode4.6
Lymphoma_burkitts(Daudi)6.85
Lymphoma_burkitts(Raji)8.15
MedullaOblongata11.45
OccipitalLobe7.25
OlfactoryBulb4.15
Ovary3.55
Pancreas4.3
PancreaticIslet5.6
ParietalLobe7.3
Pituitary6.05
Placenta5.2
Pons7.5
PrefrontalCortex16.8
Prostate6
Salivarygland4.45
SkeletalMuscle6.4
Skin5.9
SmoothMuscle5.65
Spinalcord5.8
SubthalamicNucleus10.1
SuperiorCervicalGanglion6.3
TemporalLobe6.55
Testis4.35
TestisGermCell4.55
TestisIntersitial4.55
TestisLeydigCell5.2
TestisSeminiferousTubule4.6
Thalamus5.5
Thymus4.25
Thyroid6.55
Tongue5.35
Tonsil5.3
Trachea4.55
TrigeminalGanglion5.8
Uterus4.05
UterusCorpus4.9
WholeBlood5.45
Wholebrain13.9
colon5.3
pineal_day7.92
pineal_night7.06
retina6.2
small_intestine4.8
Allen Brain Atlas Top
Human Whole Brain Microarrayview in Allen Brain Atlas
  • Probe id     Donor id      
  • Probe name: CUST_132_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
Amygdala7.49 ± 0.49
Basal Forebrain6.94 ± 0.38
Basal Part of Pons7.37 ± 0.44
Cerebellar Cortex6.51 ± 0.28
Cerebellar Nuclei6.05 ± 0.7
Claustrum8 ± 0.44
Epithalamus6.06 ± 0.37
Frontal Lobe7.17 ± 0.64
Globus Pallidus5.63 ± 1.14
Hypothalamus6.98 ± 0.7
Insula7.18 ± 0.41
Limbic Lobe7.58 ± 0.48
Mesencephalon6.78 ± 0.66
Myelencephalon7 ± 0.68
Occipital Lobe7.21 ± 0.57
Parietal Lobe7.34 ± 0.62
Pontine Tegmentum6.92 ± 0.78
Striatum6.98 ± 0.8
Subthalamus6.01 ± 0.46
Temporal Lobe7.16 ± 0.45
Thalamus6.73 ± 0.57
White Matter5.17 ± 0.69
Mouse Brain ISH
Gene Symbol Brain Structure ID Brain Structure Name Express Desity/Level (Meatured by ISH) Express Bar
Cacnb1CBCerebellum12.36
13.85
Cacnb1CTXCerebral cortex100
100
Cacnb1HIPHippocampal region80.4
100
Cacnb1HPFHippocampal formation90.44
100
Cacnb1HYHypothalamus35.89
28.89
Cacnb1LSXLateral septal complex58.81
49.81
Cacnb1MBMidbrain25.26
24.33
Cacnb1MYMedulla39.22
43.79
Cacnb1OLFOlfactory bulb100
100
Cacnb1PPons27.93
29.56
Cacnb1PALPallidum48.32
46.63
Cacnb1RHPRetrohippocampal region100
100
Cacnb1sAMYStriatum-like amygdalar nuclei100
99.33
Cacnb1STRStriatum100
100
Cacnb1STRdStriatum dorsal region100
100
Cacnb1STRvStriatum ventral region100
100
Cacnb1THThalamus34.4
29.23
Peptide Top
Peptide Name Peptide Lengh Peptide Start Peptide End Peptide Sequence Source
PAp00626758 12 342 353 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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