Summary ?
GeneID26505
SymbolCNNM3
SynonymsACDP3
Descriptioncyclin and CBS domain divalent metal cation transport mediator 3
ReferenceMIM:607804|HGNC:HGNC:104|HPRD:07419|
Gene typeprotein-coding
Map location2p12-p11.2
Pascal p-value0.002
Sherlock p-value0.688
DEG p-valueDEG:Zhao_2015:p=4.89e-05:q=0.0489
Fetal beta0.847
eGeneMyers' cis & trans
SupportCompositeSet

Gene in Data Sources
Gene set name Method of gene setDescriptionInfo
CV:PGCnpGenome-wide Association StudyGWAS
DEG:Zhao_2015RNA Sequencing analysisTranscriptome sequencing and genome-wide association analyses reveal lysosomal function and actin cytoskeleton remodeling in schizophrenia and bipolar disorder.
DNM:Fromer_2014Whole Exome Sequencing analysisThis study reported a WES study of 623 schizophrenia trios, reporting DNMs using genomic DNA.
GSMA_IGenome scan meta-analysisPsr: 0.0004 

Section I. Genetics and epigenetics annotation

@DNM table

GeneChromosomePositionRefAltTranscriptAA changeMutation typeSiftCG46TraitStudy
CNNM3chr297493918CANM_017623
NM_199078
p.591T>N
p.543T>N
missense
missense
SchizophreniaDNM:Fromer_2014

@eQTL annotation

SNP IDChromosomePositioneGeneGene Entrez IDpvalueqvalueTSS distanceeQTL type
rs16829545chr2151977407CNNM3265054.359E-14trans
rs7584986chr2184111432CNNM3265053.929E-4trans
rs3106445chr3165326464CNNM3265050.16trans
rs520325chr3165361016CNNM3265050.11trans
rs2183142chr4159232695CNNM3265050.06trans
rs9993289chr4160724785CNNM3265050.03trans
rs4691618chr4160749122CNNM3265050trans
rs1031637chr4160759123CNNM3265050.03trans
rs897930chr4160759355CNNM3265050.03trans
rs4280696chr4160762239CNNM3265050.03trans
rs1457804chr4160766410CNNM3265050.03trans
rs2061337chr4160768115CNNM3265050.03trans
rs1379601chr4160775476CNNM3265050.03trans
snp_a-42186000CNNM3265050.08trans
rs7787830chr798797019CNNM3265050.03trans
rs3118341chr925185518CNNM3265050.15trans
rs17176921chr1050580874CNNM3265050.07trans
rs2393316chr1059333070CNNM3265050.09trans
rs4265582chr1118797649CNNM3265050.08trans
rs16955618chr1529937543CNNM3265059.324E-13trans
rs1041786chr2122617710CNNM3265050.1trans

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.

No co-expressed genes in brain regions


Section III. Gene Ontology annotation

Molecular functionGO termEvidenceNeuro keywordsPubMed ID
GO:0005515protein bindingIPI17353931 
Biological processGO termEvidenceNeuro keywordsPubMed ID
GO:0006811ion transportIEA-
Cellular componentGO termEvidenceNeuro keywordsPubMed ID
GO:0016021integral to membraneIEA-
GO:0005886plasma membraneIEA-

Section V. Pathway annotation

Pathway namePathway size# SZGR 2.0 genes in pathwayInfo
PEREZ TP53 TARGETS 1174695All SZGR 2.0 genes in this pathway
WANG RESPONSE TO BEXAROTENE UP 3417All SZGR 2.0 genes in this pathway
ACEVEDO LIVER CANCER DN 540340All SZGR 2.0 genes in this pathway
ACEVEDO LIVER TUMOR VS NORMAL ADJACENT TISSUE DN 274165All SZGR 2.0 genes in this pathway
PILON KLF1 TARGETS DN 19721213All SZGR 2.0 genes in this pathway
KASLER HDAC7 TARGETS 1 UP 194133All SZGR 2.0 genes in this pathway
FEVR CTNNB1 TARGETS DN 553343All SZGR 2.0 genes in this pathway

Section VI. microRNA annotation

miRNA familyTarget positionmiRNA IDmiRNA seq
UTR startUTR endMatch method
miR-143264270m8hsa-miR-143brainUGAGAUGAAGCACUGUAGCUCA
miR-1825685741Ahsa-miR-182UUUGGCAAUGGUAGAACUCACA
miR-965675741A,m8hsa-miR-96brainUUUGGCACUAGCACAUUUUUGC