Summary ?
GeneID8220
SymbolDGCR14
SynonymsDGCR13|DGS-H|DGS-I|DGSH|DGSI|ES2|Es2el
DescriptionDiGeorge syndrome critical region gene 14
ReferenceMIM:601755|HGNC:HGNC:16817|Ensembl:ENSG00000100056|HPRD:03452|HPRD:18586|Vega:OTTHUMG00000150119
Gene typeprotein-coding
Map location22q11.21|22q11.2
Pascal p-value0.015
Sherlock p-value0.303
Fetal beta-0.578

Gene in Data Sources
Gene set name Method of gene setDescriptionInfo
CNV:YESCopy number variation studiesManual curation
CV:PGCnpGenome-wide Association StudyGWAS
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,schizophreniasClick to show details
GO_AnnotationMapping neuro-related keywords to Gene Ontology annotationsHits with neuro-related keywords: 1 

Section I. Genetics and epigenetics annotation


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
BCKDK0.830.81
SLC35A40.830.84
MFSD50.820.81
CRAT0.810.78
PQLC20.810.83
PIGQ0.810.80
SLC5A20.800.77
HSD17B10.800.79
TESK10.790.81
B4GALT70.790.78
Top 10 negatively co-expressed genes
GenePearson's Correlation Spearman's Correlation
AF347015.21-0.58-0.57
AF347015.31-0.55-0.50
MT-ATP8-0.52-0.57
AF347015.8-0.52-0.50
MT-CO2-0.52-0.48
AF347015.27-0.52-0.49
MT-CYB-0.50-0.47
AF347015.33-0.47-0.44
AF347015.2-0.47-0.44
AL139819.3-0.47-0.48

Section III. Gene Ontology annotation

Molecular functionGO termEvidenceNeuro keywordsPubMed ID
GO:0003674molecular_functionND-
Biological processGO termEvidenceNeuro keywordsPubMed ID
GO:0007399nervous system developmentISSneurite (GO term level: 5)8703114 
GO:0006397mRNA processingIEA-
GO:0008380RNA splicingIEA-
Cellular componentGO termEvidenceNeuro keywordsPubMed ID
GO:0005634nucleusISS8703114 
GO:0005681spliceosomeIEA-
GO:0005730nucleolusIDA18029348 
GO:0005737cytoplasmIDA18029348 

Section V. Pathway annotation

Pathway namePathway size# SZGR 2.0 genes in pathwayInfo
KIM WT1 TARGETS DN 459276All SZGR 2.0 genes in this pathway
GRAESSMANN RESPONSE TO MC AND DOXORUBICIN DN 770415All SZGR 2.0 genes in this pathway
GAUSSMANN MLL AF4 FUSION TARGETS G DN 3518All SZGR 2.0 genes in this pathway
DACOSTA UV RESPONSE VIA ERCC3 UP 309199All SZGR 2.0 genes in this pathway
LIAO METASTASIS 539324All 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
SHEN SMARCA2 TARGETS DN 357212All SZGR 2.0 genes in this pathway
BLALOCK ALZHEIMERS DISEASE INCIPIENT UP 390242All SZGR 2.0 genes in this pathway
BLALOCK ALZHEIMERS DISEASE UP 16911088All SZGR 2.0 genes in this pathway
SATO SILENCED BY METHYLATION IN PANCREATIC CANCER 1 419273All SZGR 2.0 genes in this pathway
MARTENS TRETINOIN RESPONSE UP 857456All SZGR 2.0 genes in this pathway
LI DCP2 BOUND MRNA 8957All SZGR 2.0 genes in this pathway
ZWANG TRANSIENTLY UP BY 1ST EGF PULSE ONLY 1839928All SZGR 2.0 genes in this pathway

Section VI. microRNA annotation

miRNA familyTarget positionmiRNA IDmiRNA seq
UTR startUTR endMatch method
miR-124/50616161622m8hsa-miR-506UAAGGCACCCUUCUGAGUAGA
hsa-miR-124brainUAAGGCACGCGGUGAAUGCC
miR-130/30120602066m8hsa-miR-130abrainCAGUGCAAUGUUAAAAGGGCAU
hsa-miR-301CAGUGCAAUAGUAUUGUCAAAGC
hsa-miR-130bbrainCAGUGCAAUGAUGAAAGGGCAU
hsa-miR-454-3pUAGUGCAAUAUUGCUUAUAGGGUUU
miR-205194119471Ahsa-miR-205UCCUUCAUUCCACCGGAGUCUG
miR-2624202426m8hsa-miR-26abrainUUCAAGUAAUCCAGGAUAGGC
hsa-miR-26bSZUUCAAGUAAUUCAGGAUAGGUU
miR-324-5p22252231m8hsa-miR-324-5pCGCAUCCCCUAGGGCAUUGGUGU
miR-335193719431Ahsa-miR-335brainUCAAGAGCAAUAACGAAAAAUGU
miR-378*20932099m8hsa-miR-422bCUGGACUUGGAGUCAGAAGGCC
hsa-miR-422aCUGGACUUAGGGUCAGAAGGCC
miR-505234923551Ahsa-miR-505GUCAACACUUGCUGGUUUCCUC