Gene Report

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Basic Info

Approved Symbol	CCDC50
Previous Symbol	C3orf6, DFNA44
Symbol Alias	Ymer
Approved Name	coiled-coil domain containing 50
Previous Name	deafness, autosomal dominant 44
Location	3q28
Position	chr3:191329077-191398670, 1
External Links	HGNC: 18111 Entrez Gene: 152137 Ensembl: ENSG00000152492 UCSC: uc003fsv.3
No. of Studies	2 (Positive: 1; Negative: 1; trend: 0)
Overlap with SZ?	NO
Overlap with MDD?	NO

Gene related studies (count: 2)

Reference	Tested Markers	Statistical Values/Author Comments	Result Category	Comment on Study
Schosser, A.,2011	SNP: rs2293378	No significant association was observed.	Negative	Comment on Study
Noor A., 2014		Selected stringent CNV related to this gene is validated by qPCR from BD case data.	Positive	Comment on Study

Gene functional annotation

Gene related GO terms (count: 3)

ID	Name	Type	Evidence[PMID]	No. of Genes in BDgene
GO:0005737	cytoplasm	cellular component	IDA	322
GO:0005515	protein binding	molecular function	IPI[18029035]	563
GO:0031625	ubiquitin protein ligase binding	molecular function	IPI[23418353]	25

Gene related KEGG pathways (count: 0)

Gene related BioCarta pathways (count: 0)

Gene related interactors from protein-protein interactions data in HPRD (count: 3)

Gene	Interactor	Interactor in BDgene?	Experiment Type	PMID
CCDC50	RIPK1	NO	in vitro	1802935
CCDC50	RPS3A	NO	yeast 2-hybrid	16169070
CCDC50	TNFAIP3	NO	in vitro	18029035

Related other genetic factors

Gene related SNPs (count: 1)

rs_ID	Location	Functional Annotation	No. of Studies (Positive/Negative/Trend)
rs2293378	chr3:191396520 - 191396520(1)	3_prime_UTR_variant; downstream_gene_variant	1(0/1/0)

Gene related CNVs (count: 1)

ID	Location	Size	Band	Type	Inheritance
CNV_Abdul Noor[2014]_4	chr3:192548094-192552686 (NCBI Build 36/hg18)	4000	3q28	deletion

Gene related other variants (count: 0)

Gene related regions (count: 3)

Region Name	Position	No. of Studies (Positive/Negative/Trend)
Chr 3	chr3:0-198295559	2 (0/2/0)
3q28	chr3:188200000-192600000	1 (0/0/1)
3q27-28	chr3:183000000-192600000	1 (0/1/0)

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

Gene relationship with SZ

Gene relationship with MDD

View in gBrowse

Region: chr3:191329077..191398670 View in gBrowse