Gene Report

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Basic Info

Approved Symbol	UFD1L
Symbol Alias	UFD1
Approved Name	ubiquitin fusion degradation 1 like (yeast)
Previous Name	ubiquitin fusion degradation 1-like
Location	22q11.2
Position	chr22:19449910-19479215, -1
External Links	HGNC: 12520 Entrez Gene: 7353 Ensembl: ENSG00000070010 UCSC: uc002zpm.2
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'=1, Median r<sup>2</sup> =0.12, 1 LD blocks, 0.73 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: 9)

ID	Name	Type	Evidence[PMID]	No. of Genes in BDgene
GO:0005102	receptor binding	molecular function	IEA	37
GO:0005634	nucleus	cellular component	IDA[21630459]	283

ID	Name	Type	Evidence[PMID]	No. of Genes in BDgene
GO:0001501	skeletal system development	biological process	TAS[10024240]	16
GO:0005515	protein binding	molecular function	IPI[17681147]	563
GO:0032403	protein complex binding	molecular function	IEA	16
GO:0043161	proteasome-mediated ubiquitin-dependent protein catabolic process	biological process	IEA	13
GO:0004843	ubiquitin-specific protease activity	molecular function	TAS[9063746]	4
GO:0005829	cytosol	cellular component	IEA	223
GO:0006511	ubiquitin-dependent protein catabolic process	biological process	TAS[9063746]	5

Gene related KEGG pathways (count: 0)

Gene related BioCarta pathways (count: 0)

Gene related interactors from protein-protein interactions data in HPRD (count: 2)

Gene	Interactor	Interactor in BDgene?	Experiment Type	PMID
UFD1L	NPLOC4	NO	yeast 2-hybrid	11574150
UFD1L	VCP	NO	in vitro	16525503

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: chr22:19449910..19479215 View in gBrowse