AutismKB 2.0

Annotation Detail for CACNA1F


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Basic Information Top
Gene Symbol:CACNA1F ( AIED,COD3,COD4,CORDX,CORDX3,CSNB2,CSNB2A,CSNBX2,Cav1.4,JM8,JMC8,OA2 )
Gene Full Name: calcium channel, voltage-dependent, L type, alpha 1F subunit
Band: Xp11.23
Quick LinksEntrez ID:778; OMIM: 300110; Uniprot ID:CAC1F_HUMAN; ENSEMBL ID: ENSG00000102001; HGNC ID: 1393
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 
fetus0 / 5640120 
neonate0 / 310970 
infant0 / 236200 
juvenile0 / 555560 
adult12 / 19391216
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 
chondrosarcoma0 / 828230 
colorectal tumor0 / 1142460 
esophageal tumor0 / 172900 
gastrointestinal tumor0 / 1193690 
germ cell tumor0 / 2638450 
glioma0 / 1068830 
head and neck tumor0 / 1363020 
kidney tumor0 / 689590 
leukemia0 / 958420 
liver tumor0 / 963590 
lung tumor0 / 1031270 
lymphoma0 / 717550 
non-neoplasia0 / 972500 
normal20 / 33603075
ovarian tumor0 / 766820 
pancreatic tumor0 / 1046160 
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 gland0 / 331970 
ascites0 / 400150 
bladder0 / 297570 
blood0 / 1234780 
bone0 / 716550 
bone marrow0 / 488010 
brain1 / 11009890 
cervix0 / 481710 
connective tissue0 / 1492550 
ear0 / 162120 
embryonic tissue0 / 2157220 
esophagus0 / 202090 
eye16 / 21105475
heart0 / 896260 
intestine0 / 2344720 
kidney0 / 2117770 
larynx0 / 241450 
liver0 / 2077430 
lung3 / 3369748
lymph0 / 442700 
lymph node0 / 916100 
mammary gland0 / 1532710 
mouth0 / 670520 
muscle2 / 10771518
nerve0 / 157680 
ovary0 / 1020510 
pancreas0 / 2148120 
parathyroid0 / 205390 
pharynx0 / 413280 
pituitary gland0 / 165850 
placenta0 / 2808250 
prostate0 / 1893450 
salivary gland0 / 201550 
skin0 / 2105740 
spleen0 / 539520 
stomach0 / 966190 
testis0 / 3304420 
thymus1 / 8113112
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: 208377_s_at
Cell line Expression level Expression bar
721_B_lymphoblasts4.3
Adipocyte3.35
AdrenalCortex3.55
Adrenalgland2.9
Amygdala3.65
Appendix3.4
AtrioventricularNode2.6
BDCA4+_DentriticCells3.85
Bonemarrow3.45
BronchialEpithelialCells3.35
CD105+_Endothelial3.45
CD14+_Monocytes3.65
CD19+_BCells(neg._sel.)3.7
CD33+_Myeloid4.4
CD34+4.4
CD4+_Tcells3.7
CD56+_NKCells4.05
CD71+_EarlyErythroid3.2
CD8+_Tcells3.3
CardiacMyocytes4.3
Caudatenucleus3.05
Cerebellum2.8
CerebellumPeduncles3.85
CiliaryGanglion2.4
CingulateCortex3.5
Colorectaladenocarcinoma3.4
DorsalRootGanglion2.75
FetalThyroid3.3
Fetalbrain3.45
Fetalliver3
Fetallung2.8
GlobusPallidus2.5
Heart4.3
Hypothalamus3.7
Kidney3.2
Leukemia_chronicMyelogenousK-5623.1
Leukemia_promyelocytic-HL-603
Leukemialymphoblastic(MOLT-4)2.75
Liver7.1
Lung3.8
Lymphnode2.95
Lymphoma_burkitts(Daudi)4.55
Lymphoma_burkitts(Raji)4.7
MedullaOblongata3.2
OccipitalLobe3.1
OlfactoryBulb2.7
Ovary2.25
Pancreas2.75
PancreaticIslet3.65
ParietalLobe3.6
Pituitary4.05
Placenta3.6
Pons3.25
PrefrontalCortex4.3
Prostate4
Salivarygland2.7
SkeletalMuscle3.9
Skin2.65
SmoothMuscle3.85
Spinalcord3.65
SubthalamicNucleus3.15
SuperiorCervicalGanglion3.8
TemporalLobe3.1
Testis3
TestisGermCell2.85
TestisIntersitial2.85
TestisLeydigCell3.35
TestisSeminiferousTubule2.95
Thalamus3.45
Thymus2.75
Thyroid4.3
Tongue3.3
Tonsil3.35
Trachea2.9
TrigeminalGanglion3.3
Uterus2.8
UterusCorpus3.05
WholeBlood3.75
Wholebrain3
colon3.4
pineal_day14.26
pineal_night9.24
retina4.175
small_intestine3.3
Allen Brain Atlas Top
Human Whole Brain Microarrayview in Allen Brain Atlas
  • Probe id     Donor id      
  • Probe name: CUST_9275_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
Amygdala2.84 ± 0.9
Basal Forebrain2 ± 0.34
Basal Part of Pons1.99 ± 0.68
Cerebellar Cortex1.94 ± 0.71
Cerebellar Nuclei2.28 ± 0.75
Claustrum2.77 ± 0.95
Epithalamus1.6 ± 0.91
Frontal Lobe1.84 ± 0.76
Globus Pallidus2.35 ± 0.76
Hypothalamus2.04 ± 0.83
Insula2.13 ± 1.07
Limbic Lobe2.1 ± 0.77
Mesencephalon2.11 ± 0.75
Myelencephalon2.1 ± 0.74
Occipital Lobe2.15 ± 0.79
Parietal Lobe1.99 ± 0.86
Pontine Tegmentum2.12 ± 0.86
Striatum2.24 ± 0.87
Subthalamus2.14 ± 0.86
Temporal Lobe2.19 ± 0.75
Thalamus2.02 ± 0.64
White Matter1.66 ± 0.19
Mouse Brain ISH
Gene Symbol Brain Structure ID Brain Structure Name Express Desity/Level (Meatured by ISH) Express Bar
Cacna1fCBCerebellum2.63
3.38
Cacna1fCTXCerebral cortex4.59
2.97
Cacna1fHIPHippocampal region1.22
1
Cacna1fHPFHippocampal formation2.19
1.72
Cacna1fHYHypothalamus0.6
0.4
Cacna1fLSXLateral septal complex0.1
0.09
Cacna1fMBMidbrain0.87
0.96
Cacna1fMYMedulla4.19
4.89
Cacna1fOLFOlfactory bulb6.56
4.4
Cacna1fPPons1.77
2.25
Cacna1fPALPallidum5.09
4.56
Cacna1fRHPRetrohippocampal region4.26
3.03
Cacna1fsAMYStriatum-like amygdalar nuclei2.27
1.47
Cacna1fSTRStriatum2.74
1.89
Cacna1fSTRdStriatum dorsal region2.94
2.14
Cacna1fSTRvStriatum ventral region3.23
1.86
Cacna1fTHThalamus2.15
1.59
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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