AutismKB 2.0

Annotation Detail for CACNA2D4


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Basic Information Top
Gene Symbol:CACNA2D4 ( RCD4 )
Gene Full Name: calcium channel, voltage-dependent, alpha 2/delta subunit 4
Band: 12p13.33
Quick LinksEntrez ID:93589; OMIM: 608171; Uniprot ID:CA2D4_HUMAN; ENSEMBL ID: ENSG00000151062; HGNC ID: 20202
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 
fetus9 / 56401215
neonate0 / 310970 
infant0 / 236200 
juvenile0 / 555560 
adult38 / 193912119
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 
chondrosarcoma1 / 8282312
colorectal tumor0 / 1142460 
esophageal tumor0 / 172900 
gastrointestinal tumor0 / 1193690 
germ cell tumor3 / 26384511
glioma0 / 1068830 
head and neck tumor0 / 1363020 
kidney tumor0 / 689590 
leukemia8 / 9584283
liver tumor0 / 963590 
lung tumor2 / 10312719
lymphoma0 / 717550 
non-neoplasia0 / 972500 
normal62 / 336030718
ovarian tumor1 / 7668213
pancreatic tumor0 / 1046160 
primitive neuroectodermal tumor of the CNS0 / 1256800 
prostate cancer0 / 1026800 
retinoblastoma2 / 4635643
skin tumor7 / 12494956
soft tissue/muscle tissue tumor2 / 12519115
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 
bladder1 / 2975733
blood10 / 12347880
bone2 / 7165527
bone marrow15 / 48801307
brain6 / 11009895
cervix0 / 481710 
connective tissue2 / 14925513
ear0 / 162120 
embryonic tissue0 / 2157220 
esophagus0 / 202090 
eye12 / 21105456
heart2 / 8962622
intestine2 / 2344728
kidney5 / 21177723
larynx0 / 241450 
liver0 / 2077430 
lung6 / 33697417
lymph0 / 442700 
lymph node7 / 9161076
mammary gland2 / 15327113
mouth0 / 670520 
muscle1 / 1077159
nerve0 / 157680 
ovary1 / 1020519
pancreas0 / 2148120 
parathyroid0 / 205390 
pharynx0 / 413280 
pituitary gland0 / 165850 
placenta4 / 28082514
prostate0 / 1893450 
salivary gland0 / 201550 
skin7 / 21057433
spleen5 / 5395292
stomach1 / 9661910
testis6 / 33044218
thymus3 / 8113136
thyroid0 / 474730 
tonsil0 / 169990 
trachea1 / 5241319
umbilical cord0 / 136800 
uterus1 / 2328784
vascular0 / 517800 
Microarray in BioGPS Top
Allen Brain Atlas Top
Human Whole Brain Microarrayview in Allen Brain Atlas
  • Probe id     Donor id      
  • Probe name: CUST_1011_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
Amygdala2.56 ± 0.85
Basal Forebrain2.21 ± 0.23
Basal Part of Pons1.88 ± 0.7
Cerebellar Cortex1.85 ± 0.64
Cerebellar Nuclei2.32 ± 0.74
Claustrum2.66 ± 0.75
Epithalamus1.68 ± 0.94
Frontal Lobe2.12 ± 0.75
Globus Pallidus2.91 ± 0.62
Hypothalamus2.07 ± 0.81
Insula1.92 ± 0.8
Limbic Lobe2.28 ± 0.9
Mesencephalon2.3 ± 0.76
Myelencephalon2.24 ± 0.71
Occipital Lobe2.2 ± 0.75
Parietal Lobe2.12 ± 0.73
Pontine Tegmentum2.31 ± 0.79
Striatum2.86 ± 0.85
Subthalamus2.14 ± 0.8
Temporal Lobe2.09 ± 0.73
Thalamus2.19 ± 0.76
White Matter3.12 ± 0.78
Mouse Brain ISH
Gene Symbol Brain Structure ID Brain Structure Name Express Desity/Level (Meatured by ISH) Express Bar
Cacna2d4CBCerebellum0.83
1.12
Cacna2d4CTXCerebral cortex1.13
1.2
Cacna2d4HIPHippocampal region0.5
1.11
Cacna2d4HPFHippocampal formation0.5
0.96
Cacna2d4HYHypothalamus0.36
0.29
Cacna2d4LSXLateral septal complex0.85
0.87
Cacna2d4MBMidbrain0.89
0.77
Cacna2d4MYMedulla0.96
1.35
Cacna2d4OLFOlfactory bulb0.84
1.6
Cacna2d4PPons0.51
0.47
Cacna2d4PALPallidum0.77
1.04
Cacna2d4RHPRetrohippocampal region0.48
0.77
Cacna2d4sAMYStriatum-like amygdalar nuclei0.23
0.23
Cacna2d4STRStriatum0.6
0.58
Cacna2d4STRdStriatum dorsal region0.67
0.66
Cacna2d4STRvStriatum ventral region0.5
0.42
Cacna2d4THThalamus1.16
1.16
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