Gene Page: CACNA1S

Summary ?
GeneID779
SymbolCACNA1S
SynonymsCACNL1A3|CCHL1A3|Cav1.1|HOKPP|HOKPP1|MHS5|TTPP1|hypoPP
Descriptioncalcium voltage-gated channel subunit alpha1 S
ReferenceMIM:114208|HGNC:HGNC:1397|Ensembl:ENSG00000081248|HPRD:00248|Vega:OTTHUMG00000035784
Gene typeprotein-coding
Map location1q32
Fetal beta-0.27
SupportCompositeSet

Gene in Data Sources
Gene set name Method of gene setDescriptionInfo
CV:GWASdbGenome-wide Association StudiesGWASdb records for schizophrenia
CV:PGCnpGenome-wide Association StudyGWAS
DNM:Fromer_2014Whole Exome Sequencing analysisThis study reported a WES study of 623 schizophrenia trios, reporting DNMs using genomic DNA.

Section I. Genetics and epigenetics annotation

@DNM table

GeneChromosomePositionRefAltTranscriptAA changeMutation typeSiftCG46TraitStudy
CACNA1Schr1201031189TCNM_000069p.979D>GmissenseSchizophreniaDNM:Fromer_2014


Section II. Transcriptome annotation

General gene expression (GTEx)

Not available

Gene expression during devlopment (BrainCloud)

Footnote:
A total of 269 time points ploted, with n=38 fetal samples (x=1:38). Each triangle represents one time point.

Gene expression of temporal and spatial changes (BrainSpan)

Footnote:
SC: sub-cortical regions; SM: sensory-motor regions; FC: frontal cortex; and TP: temporal-parietal cortex
ST1: fetal (13 - 26 postconception weeks), ST2: early infancy to late childhood (4 months to 11 years), and ST3: adolescence to adulthood (13 - 23 years)
The bar shown representes the lower 25% and upper 25% of the expression distribution.

Top co-expressed genes in brain regions

Top 10 positively co-expressed genes
GenePearson's Correlation Spearman's Correlation
NPTN0.920.92
RPH3A0.910.80
SLC12A50.910.94
MAPK90.910.89
RASGRP10.900.88
SLC35F30.900.87
NMT10.900.87
SERINC30.900.88
NALCN0.900.87
NLK0.900.85
Top 10 negatively co-expressed genes
GenePearson's Correlation Spearman's Correlation
BCL7C-0.53-0.59
RPL35-0.48-0.52
C9orf46-0.47-0.46
RPL23A-0.46-0.50
AC006276.2-0.46-0.44
RPL18-0.46-0.52
RPL36-0.45-0.49
RPS20-0.45-0.53
RPS6-0.45-0.48
RPS18-0.45-0.45

Section V. Pathway annotation

Pathway namePathway size# SZGR 2.0 genes in pathwayInfo
KEGG MAPK SIGNALING PATHWAY 267205All SZGR 2.0 genes in this pathway
KEGG CALCIUM SIGNALING PATHWAY 178134All SZGR 2.0 genes in this pathway
KEGG CARDIAC MUSCLE CONTRACTION 8051All SZGR 2.0 genes in this pathway
KEGG VASCULAR SMOOTH MUSCLE CONTRACTION 11581All SZGR 2.0 genes in this pathway
KEGG GNRH SIGNALING PATHWAY 10177All SZGR 2.0 genes in this pathway
KEGG ALZHEIMERS DISEASE 169110All SZGR 2.0 genes in this pathway
KEGG HYPERTROPHIC CARDIOMYOPATHY HCM 8565All SZGR 2.0 genes in this pathway
KEGG ARRHYTHMOGENIC RIGHT VENTRICULAR CARDIOMYOPATHY ARVC 7659All SZGR 2.0 genes in this pathway
KEGG DILATED CARDIOMYOPATHY 9268All SZGR 2.0 genes in this pathway
REACTOME DEVELOPMENTAL BIOLOGY 396292All SZGR 2.0 genes in this pathway
REACTOME AXON GUIDANCE 251188All SZGR 2.0 genes in this pathway
REACTOME NCAM1 INTERACTIONS 3927All SZGR 2.0 genes in this pathway
REACTOME NCAM SIGNALING FOR NEURITE OUT GROWTH 6449All SZGR 2.0 genes in this pathway
BYSTRYKH HEMATOPOIESIS STEM CELL QTL TRANS 882572All SZGR 2.0 genes in this pathway
NADLER HYPERGLYCEMIA AT OBESITY 5835All SZGR 2.0 genes in this pathway
YOKOE CANCER TESTIS ANTIGENS 3822All SZGR 2.0 genes in this pathway
BOYLAN MULTIPLE MYELOMA C D DN 252155All SZGR 2.0 genes in this pathway
MIKKELSEN IPS LCP WITH H3K27ME3 107All SZGR 2.0 genes in this pathway
BOYLAN MULTIPLE MYELOMA PCA1 UP 10166All SZGR 2.0 genes in this pathway
MIKKELSEN ES LCP WITH H3K27ME3 148All SZGR 2.0 genes in this pathway
BRUINS UVC RESPONSE VIA TP53 GROUP A 898516All SZGR 2.0 genes in this pathway
ZWANG TRANSIENTLY UP BY 2ND EGF PULSE ONLY 1725838All SZGR 2.0 genes in this pathway