Summary ?
GeneID8214
SymbolDGCR6
Synonyms-
DescriptionDiGeorge syndrome critical region gene 6
ReferenceMIM:601279|HGNC:HGNC:2846|Ensembl:ENSG00000183628|HPRD:03177|Vega:OTTHUMG00000150162
Gene typeprotein-coding
Map location22q11.21|22q11
Pascal p-value0.472
Sherlock p-value0.205
Fetal beta-0.734
DMG1 (# studies)
eGeneCaudate basal ganglia
Cerebellar Hemisphere
Cerebellum
Cortex
Frontal Cortex BA9
Hippocampus
Hypothalamus
Nucleus accumbens basal ganglia
Putamen basal ganglia
Myers' cis & trans
Meta

Gene in Data Sources
Gene set name Method of gene setDescriptionInfo
CNV:YESCopy number variation studiesManual curation
CV:PGCnpGenome-wide Association StudyGWAS
DMG:Jaffe_2016Genome-wide DNA methylation analysisThis dataset includes 2,104 probes/CpGs associated with SZ patients (n=108) compared to 136 controls at Bonferroni-adjusted P < 0.05. 1
PMID:cooccurHigh-throughput literature-searchSystematic search in PubMed for genes co-occurring with SCZ keywords. A total of 3027 genes were included.
AssociationA combined odds ratio method (Sun et al. 2008), association studies1Link to SZGene
GSMA_IGenome scan meta-analysisPsr: 0.031 
LiteratureHigh-throughput literature-searchCo-occurance with Schizophrenia keywords: schizophrenia,schizophrenic,schizophreniasClick to show details

Section I. Genetics and epigenetics annotation

@Differentially methylated gene

ProbeChromosomePositionNearest geneP (dis)Beta (dis)FDR (dis)Study
cg013468302218893669DGCR61.01E-8-0.0174.38E-6DMG:Jaffe_2016

@eQTL annotation

SNP IDChromosomePositioneGeneGene Entrez IDpvalueqvalueTSS distanceeQTL type
rs66015040DGCR682140.17trans
rs1440739792218886814DGCR6ENSG00000183628.84.375E-70.02-6727gtex_brain_putamen_basal
rs561912152218887666DGCR6ENSG00000183628.83.86E-70.02-5875gtex_brain_putamen_basal
rs563335372218888301DGCR6ENSG00000183628.81.635E-70.02-5240gtex_brain_putamen_basal
rs177429072218890615DGCR6ENSG00000183628.81.638E-70.02-2926gtex_brain_putamen_basal
rs731552852218890809DGCR6ENSG00000183628.81.639E-70.02-2732gtex_brain_putamen_basal
rs561846312218891230DGCR6ENSG00000183628.81.642E-70.02-2311gtex_brain_putamen_basal
rs3747028922218894001DGCR6ENSG00000183628.82.831E-70.02460gtex_brain_putamen_basal
rs559637162218895875DGCR6ENSG00000183628.81.673E-70.022334gtex_brain_putamen_basal
rs731552932218896087DGCR6ENSG00000183628.81.588E-70.022546gtex_brain_putamen_basal
rs106022218899484DGCR6ENSG00000183628.81.093E-70.025943gtex_brain_putamen_basal

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:0003674molecular_functionND-
Biological processGO termEvidenceNeuro keywordsPubMed ID
GO:0007155cell adhesionTAS8733130 
GO:0009887organ morphogenesisTAS8733130 
Cellular componentGO termEvidenceNeuro keywordsPubMed ID
GO:0005578proteinaceous extracellular matrixTAS8733130 
GO:0005634nucleusIEA-

Section V. Pathway annotation

Pathway namePathway size# SZGR 2.0 genes in pathwayInfo
CHIARADONNA NEOPLASTIC TRANSFORMATION CDC25 DN 153100All SZGR 2.0 genes in this pathway
GRAESSMANN APOPTOSIS BY SERUM DEPRIVATION DN 234147All SZGR 2.0 genes in this pathway
GAUSSMANN MLL AF4 FUSION TARGETS G DN 3518All SZGR 2.0 genes in this pathway
TERAMOTO OPN TARGETS CLUSTER 4 138All SZGR 2.0 genes in this pathway
BENPORATH SUZ12 TARGETS 1038678All SZGR 2.0 genes in this pathway
BENPORATH MYC MAX TARGETS 775494All SZGR 2.0 genes in this pathway
STARK PREFRONTAL CORTEX 22Q11 DELETION DN 517309All SZGR 2.0 genes in this pathway
STARK HYPPOCAMPUS 22Q11 DELETION DN 2019All SZGR 2.0 genes in this pathway
MORI MATURE B LYMPHOCYTE UP 9062All SZGR 2.0 genes in this pathway
MORI MATURE B LYMPHOCYTE DN 7543All SZGR 2.0 genes in this pathway
DAZARD RESPONSE TO UV NHEK UP 244151All SZGR 2.0 genes in this pathway
CUI TCF21 TARGETS 2 UP 428266All SZGR 2.0 genes in this pathway
ABE INNER EAR 4826All SZGR 2.0 genes in this pathway
WANG TUMOR INVASIVENESS UP 374247All SZGR 2.0 genes in this pathway
WALLACE JAK2 TARGETS UP 2615All SZGR 2.0 genes in this pathway
DANG BOUND BY MYC 1103714All SZGR 2.0 genes in this pathway
YAO TEMPORAL RESPONSE TO PROGESTERONE CLUSTER 13 172107All SZGR 2.0 genes in this pathway
LI DCP2 BOUND MRNA 8957All SZGR 2.0 genes in this pathway
BAKKER FOXO3 TARGETS DN 187109All SZGR 2.0 genes in this pathway