Gene Report

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Basic Info

Approved Symbol	LARGE
Symbol Alias	KIAA0609
Approved Name	like-glycosyltransferase
Location	22q12.3
Position	chr22:33162226-33922841, -1
External Links	HGNC: 6511 Entrez Gene: 9215 Ensembl: ENSG00000133424 UCSC: uc003ane.4
No. of Studies	1 (Positive: 1; Negative: 0; trend: 0)
Overlap with SZ?	NO
Overlap with MDD?	NO

Gene related studies (count: 1)

Reference	Tested Markers	Statistical Values/Author Comments	Result Category	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: 15)

ID	Name	Type	Evidence[PMID]	No. of Genes in BDgene
GO:0016757	transferase activity, transferring glycosyl groups	molecular function	TAS[9892679]	2

ID	Name	Type	Evidence[PMID]	No. of Genes in BDgene
GO:0006486	protein glycosylation	biological process	TAS[9892679]	5
GO:0009101	glycoprotein biosynthetic process	biological process	TAS[9892679]	1
GO:0005794	Golgi apparatus	cellular component	IDA[25279699]	60
GO:0006688	glycosphingolipid biosynthetic process	biological process	TAS[9892679]	1
GO:0042285	xylosyltransferase activity	molecular function	IDA[22223806]	1
GO:0030173	integral component of Golgi membrane	cellular component	TAS[9892679]	3
GO:0006044	N-acetylglucosamine metabolic process	biological process	TAS[9892679]	1
GO:0046716	muscle cell cellular homeostasis	biological process	ISS	4
GO:0030145	manganese ion binding	molecular function	IDA[25138275]	5
GO:0060538	skeletal muscle organ development	biological process	ISS	1
GO:0035269	protein O-linked mannosylation	biological process	IDA[22223806]	2
GO:0015020	glucuronosyltransferase activity	molecular function	IDA[22223806]	1
GO:0043403	skeletal muscle tissue regeneration	biological process	ISS	2
GO:0008375	acetylglucosaminyltransferase activity	molecular function	TAS[9892679]	2

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: 1)

rs_ID	Location	Functional Annotation	No. of Studies (Positive/Negative/Trend)
rs9621795	chr22:33875794 - 33875794(1)	intron_variant; non_coding_transcript_variant; upstream_gene_variant	1(1/0/0)

Gene related CNVs (count: 2)

ID	Location	Size	Band	Type	Inheritance
CNV_Abdul Noor[2014]_20	chr22:32420689-32524745 (NCBI Build 36/hg18)	104000	22q12.3	deletion
CNV_Zhang[2009]_308	chr22:32209002-32482148 (Affymetrix SNP 6.0 array reference genome)	273146		Singleton deletions

Gene related other variants (count: 0)

Gene related regions (count: 3)

Region Name	Position	No. of Studies (Positive/Negative/Trend)
22q12.3-13.32	chr22:31800000-49100000	1 (0/1/0)
Chr 22	chr22:0-50818468	2 (0/1/1)
22q12.3-q13.33	chr22:31800000-50818468	1 (1/0/0)

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

Gene relationship with SZ

Gene relationship with MDD

View in gBrowse

Region: chr22:33162226..33922841 View in gBrowse