Gene Page: CBLN1

Summary ?
GeneID869
SymbolCBLN1
Synonyms-
Descriptioncerebellin 1 precursor
ReferenceMIM:600432|HGNC:HGNC:1543|Ensembl:ENSG00000102924|HPRD:02697|Vega:OTTHUMG00000133148
Gene typeprotein-coding
Map location16q12.1
Pascal p-value0.015
Fetal beta0.451
DMG1 (# studies)
eGeneMyers' cis & trans

Gene in Data Sources
Gene set name Method of gene setDescriptionInfo
CV:PGCnpGenome-wide Association StudyGWAS
CV:PheWASPhenome-wide association studies (PheWAS)157 SNPs associated with schizophrenia 0
DMG:Wockner_2014Genome-wide DNA methylation analysisThis dataset includes 4641 differentially methylated probes corresponding to 2929 unique genes between schizophrenia patients (n=24) and controls (n=24). 1
GSMA_IIEGenome scan meta-analysis (European-ancestry samples)Psr: 0.01775 
GO_AnnotationMapping neuro-related keywords to Gene Ontology annotationsHits with neuro-related keywords: 2 

Section I. Genetics and epigenetics annotation

@CV:PheWAS

SNP IDChromosomePositionAllelePFunctionGeneUp/Down Distance

@Differentially methylated gene

ProbeChromosomePositionNearest geneP (dis)Beta (dis)FDR (dis)Study
cg000490331649317080CBLN13.22E-5-0.3890.019DMG:Wockner_2014

@eQTL annotation

SNP IDChromosomePositioneGeneGene Entrez IDpvalueqvalueTSS distanceeQTL type
snp_a-42901430CBLN18690.01trans
rs17572651chr1218943612CBLN18690.17trans
rs16829545chr2151977407CBLN18691.077E-21trans
rs3845734chr2171125572CBLN18694.526E-7trans
rs1967327chr2179314358CBLN18690.16trans
rs7584986chr2184111432CBLN18692.669E-12trans
rs2183142chr4159232695CBLN18693.596E-5trans
rs170776chr4173276735CBLN18690.02trans
rs1396222chr4173279496CBLN18690.01trans
rs335993chr4173321789CBLN18690.05trans
rs335980chr4173329784CBLN18690trans
rs335982chr4173330945CBLN18690.02trans
rs336016chr4173366576CBLN18690.19trans
rs337984chr4173411662CBLN18690.01trans
rs17762315chr576807576CBLN18698.137E-4trans
rs10491487chr580323367CBLN18690.14trans
snp_a-42186000CBLN18690.03trans
rs1380396chr5100737044CBLN18690.02trans
rs17136514chr5100847200CBLN18690.11trans
rs9968624chr5100848223CBLN18690.11trans
rs12196880chr624313746CBLN18690.06trans
rs10806988chr624341768CBLN18690.04trans
rs9461864chr633481468CBLN18693.54E-4trans
rs16890367chr638078448CBLN18690.13trans
rs2961531chr779260819CBLN18690.19trans
rs7787830chr798797019CBLN18690.2trans
rs3118341chr925185518CBLN18690trans
rs1126130chr925209346CBLN18690.13trans
rs1998746chr925211761CBLN18690.13trans
rs9406868chr925223372CBLN18690.01trans
rs2225105chr925480908CBLN18690.01trans
rs11139334chr984209393CBLN18696.463E-4trans
rs2393316chr1059333070CBLN18690.12trans
rs9989228chr1437809252CBLN18690.17trans
rs16955618chr1529937543CBLN18691.787E-32trans
rs2077735chr1558479024CBLN18690.07trans
rs9941296chr162759498CBLN18690.09trans
rs4782029chr1617248015CBLN18690.17trans
rs16945437chr1711797650CBLN18690trans
rs11873184chr181584081CBLN18690.01trans
rs11882889chr1919887684CBLN18690trans
rs7274477chr201676942CBLN18690.14trans
rs1041786chr2122617710CBLN18694.159E-7trans
rs16981387chr2226495864CBLN18690.05trans
rs16986332chrX10958354CBLN18690trans

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
MAL0.900.90
CD90.900.90
NINJ20.890.87
APOD0.890.88
DBNDD20.890.90
PLLP0.880.89
EVI2A0.880.89
RTKN0.880.90
CYP27A10.870.89
CRYAB0.870.88
Top 10 negatively co-expressed genes
GenePearson's Correlation Spearman's Correlation
NKIRAS2-0.61-0.62
KIAA1949-0.61-0.66
CRMP1-0.59-0.62
ZNF551-0.59-0.65
AC004017.1-0.59-0.65
ZBTB8A-0.59-0.62
KIF21B-0.59-0.65
DPYSL3-0.59-0.63
KIAA1211-0.59-0.66
GMIP-0.59-0.62

Section III. Gene Ontology annotation

Biological processGO termEvidenceNeuro keywordsPubMed ID
GO:0007268synaptic transmissionTASneuron, Synap, Neurotransmitter (GO term level: 6)1704129 
GO:0007399nervous system developmentTASneurite (GO term level: 5)1704129 
Cellular componentGO termEvidenceNeuro keywordsPubMed ID
GO:0045202synapseIEAneuron, Synap, Neurotransmitter, Glial (GO term level: 2)-
GO:0005576extracellular regionIEA-
GO:0016020membraneIEA-
GO:0030054cell junctionIEA-

Section V. Pathway annotation

Pathway namePathway size# SZGR 2.0 genes in pathwayInfo
DELYS THYROID CANCER UP 443294All SZGR 2.0 genes in this pathway
ROYLANCE BREAST CANCER 16Q COPY NUMBER UP 6344All SZGR 2.0 genes in this pathway
BENPORATH SUZ12 TARGETS 1038678All SZGR 2.0 genes in this pathway
BENPORATH EED TARGETS 1062725All SZGR 2.0 genes in this pathway
BENPORATH ES WITH H3K27ME3 1118744All SZGR 2.0 genes in this pathway
BENPORATH PRC2 TARGETS 652441All SZGR 2.0 genes in this pathway
LEE TARGETS OF PTCH1 AND SUFU DN 8369All SZGR 2.0 genes in this pathway
AFFAR YY1 TARGETS UP 214133All SZGR 2.0 genes in this pathway
MEISSNER NPC HCP WITH H3K4ME3 AND H3K27ME3 142103All SZGR 2.0 genes in this pathway
MEISSNER BRAIN HCP WITH H3K4ME3 AND H3K27ME3 1069729All SZGR 2.0 genes in this pathway
MIKKELSEN MCV6 HCP WITH H3K27ME3 435318All SZGR 2.0 genes in this pathway
MIKKELSEN NPC HCP WITH H3K4ME3 AND H3K27ME3 210148All SZGR 2.0 genes in this pathway
MARTENS TRETINOIN RESPONSE UP 857456All SZGR 2.0 genes in this pathway
PURBEY TARGETS OF CTBP1 AND SATB1 UP 8752All SZGR 2.0 genes in this pathway
ZWANG TRANSIENTLY UP BY 2ND EGF PULSE ONLY 1725838All SZGR 2.0 genes in this pathway
NABA SECRETED FACTORS 344197All SZGR 2.0 genes in this pathway
NABA MATRISOME ASSOCIATED 753411All SZGR 2.0 genes in this pathway
NABA MATRISOME 1028559All SZGR 2.0 genes in this pathway