Gene Report

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Basic Info

Approved Symbol	DGCR14
Previous Symbol	DGCR13
Symbol Alias	DGSI, Es2el, ES2, DGS-H
Approved Name	DiGeorge syndrome critical region gene 14
Previous Name	DiGeorge syndrome critical region gene 13
Location	22q11.21
Position	chr22:19130279-19144684, -1
External Links	HGNC: 16817 Entrez Gene: 8220 Ensembl: ENSG00000100056 UCSC: uc002zou.3
No. of Studies	1 (Positive: 0; Negative: 1; trend: 0)
Overlap with SZ?	YES
Overlap with MDD?	NO

Gene related studies (count: 1)

Reference	Tested Markers	Statistical Values/Author Comments	Result Category	Comment on Study
Fallin, M. D.,2005		5 SNP typed, Median D'=0.94, Median r<sup>2</sup> =0.17, 2 LD blocks, 0.65 block coverage, all SNP or haplotype P-value > 0.05 in BP and SZ/SZA.. This gene is not suggestive to BP.	Negative	Comment on Study

Gene functional annotation

Gene related GO terms (count: 6)

ID	Name	Type	Evidence[PMID]	No. of Genes in BDgene
GO:0005634	nucleus	cellular component	ISS[8703114]	283
GO:0000398	mRNA splicing, via spliceosome	biological process	IC[11991638]	6
GO:0007399	nervous system development	biological process	ISS[8703114]	40

ID	Name	Type	Evidence[PMID]	No. of Genes in BDgene
GO:0003674	molecular_function	molecular function	ND	24
GO:0005515	protein binding	molecular function	IPI[22365833]	563
GO:0071013	catalytic step 2 spliceosome	cellular component	IDA[11991638]	4

Gene related KEGG pathways (count: 0)

Gene related BioCarta pathways (count: 0)

Gene related interactors from protein-protein interactions data in HPRD (count: 1)

Gene	Interactor	Interactor in BDgene?	Experiment Type	PMID
DGCR14	LYST	NO	in vitro;yeast 2-hybrid	11984006

Related other genetic factors

Gene related SNPs (count: 0)

Gene related CNVs (count: 1)

ID	Location	Size	Band	Type	Inheritance
CNV_Zhang[2009]_306	chr22:17386126-18691917 (Affymetrix SNP 6.0 array reference genome)	1305791		Singleton deletions

Gene related other variants (count: 0)

Gene related regions (count: 3)

Region Name	Position	No. of Studies (Positive/Negative/Trend)
22q11	chr22:15000000-25500000	1 (0/1/0)
22q11.2	chr22:17400000-25500000	2 (0/2/0)
Chr 22	chr22:0-50818468	2 (0/1/1)

Overlap with schizophrenia (SZ) and major depressive disorder (MDD)

Gene relationship with SZ

Reference	Description	Result Category
16380905	This gene is not suggestive to SZ/SZA.	Negative

Gene relationship with MDD

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Region: chr22:19130279..19144684 View in gBrowse