Gene Report

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Basic Info

Approved Symbol	DGCR6
Approved Name	DiGeorge syndrome critical region gene 6
Location	22q11.21
Position	chr22:18906028-18914238, 1
External Links	HGNC: 2846 Entrez Gene: 8214 Ensembl: ENSG00000183628 UCSC: uc002zoh.4
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		1 SNP typed, 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: 5)

ID	Name	Type	Evidence[PMID]	No. of Genes in BDgene
GO:0005634	nucleus	cellular component	IEA	283
GO:0007155	cell adhesion	biological process	TAS[8733130]	42

ID	Name	Type	Evidence[PMID]	No. of Genes in BDgene
GO:0005578	proteinaceous extracellular matrix	cellular component	TAS[8733130]	19
GO:0009887	organ morphogenesis	biological process	TAS[8733130]	9
GO:0003674	molecular_function	molecular function	ND	24

Gene related KEGG pathways (count: 0)

Gene related BioCarta pathways (count: 0)

Gene related interactors from protein-protein interactions data in HPRD (count: 0)

Related other genetic factors

Gene related SNPs (count: 12)

rs_ID	Location	Functional Annotation	No. of Studies (Positive/Negative/Trend)
rs385440	chr22:18913577 - 18913577(1)	3_prime_UTR_variant; downstream_gene_variant; intron_variant; NMD_transcript_variant; non_coding_transcript_variant	1(1/0/0)
rs450046	chr22:18913491 - 18913491(1)	3_prime_UTR_variant; downstream_gene_variant; missense_variant; NMD_transcript_variant; non_coding_transcript_exon_variant; non_coding_transcript_variant	1(1/0/0)
rs383964	chr22:18913156 - 18913156(1)	3_prime_UTR_variant; downstream_gene_variant; NMD_transcript_variant; non_coding_transcript_exon_variant; non_coding_transcript_variant	1(1/0/0)
rs372055	chr22:18913237 - 18913237(1)	3_prime_UTR_variant; downstream_gene_variant; NMD_transcript_variant; non_coding_transcript_exon_variant; non_coding_transcript_variant; synonymous_variant	1(1/0/0)

rs_ID	Location	Functional Annotation
rs395440	chr22:18914365 - 18914365(1)	downstream_gene_variant; intron_variant; non_coding_transcript_variant
rs452378	chr22:18914154 - 18914154(1)	3_prime_UTR_variant; downstream_gene_variant; intron_variant; NMD_transcript_variant; non_coding_transcript_variant
rs375735	chr22:18917237 - 18917237(1)	downstream_gene_variant; intron_variant; non_coding_transcript_variant
rs375115	chr22:18917093 - 18917093(1)	downstream_gene_variant; intron_variant; non_coding_transcript_variant
rs376425	chr22:18917461 - 18917461(1)	downstream_gene_variant; intron_variant; non_coding_transcript_variant
rs2540623	chr22:18917325 - 18917325(1)	downstream_gene_variant; intron_variant; non_coding_transcript_variant
rs28750191	chr22:18917604 - 18917604(1)	downstream_gene_variant; intron_variant; non_coding_transcript_variant
rs455135	chr22:18917482 - 18917482(1)	downstream_gene_variant; intron_variant; non_coding_transcript_variant

Gene related CNVs (count: 0)

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

Reference	ID in SZGene	Result Category
16380905	424	Negative
11891283	424	Positive

Gene relationship with MDD

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Region: chr22:18906028..18914238 View in gBrowse