Gene Report

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Basic Info

Approved Symbol	EXTL1
Symbol Alias	EXTL, MGC70794
Approved Name	exostosin-like glycosyltransferase 1
Previous Name	exostoses (multiple)-like 1
Name Alias	glucuronosyl-N-acetylglucosaminyl-proteoglycan 4-alpha-N- acetylglucosaminyltransferase, "alpha-N-acetylglucosaminyltransferase II", "glucuronyl-N-acetylglucosaminylproteoglycan alpha-1,4-N- acetylglucosaminyltransferase", "exostosin-L"
Location	1p36.1
Position	chr1:26019884-26036464, 1
External Links	HGNC: 3515 Entrez Gene: 2134 Ensembl: ENSG00000158008 UCSC: uc001blf.3
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
Hattori, E.,2009	SNP: rs1938404	After the two-stage analysis, markers in this gene remained nominally significant (allelic P<0.05) with the same allele being consistently over-represented in both the first and the follow-up stages.	Positive	Comment on Study

Gene functional annotation

Gene related GO terms (count: 7)

ID	Name	Type	Evidence[PMID]	No. of Genes in BDgene
GO:0016021	integral component of membrane	cellular component	IEA	219

ID	Name	Type	Evidence[PMID]	No. of Genes in BDgene
GO:0050508	glucuronosyl-N-acetylglucosaminyl-proteoglycan 4-alpha-N-acetylglucosaminyltransferase activity	molecular function	IEA	1
GO:0006024	glycosaminoglycan biosynthetic process	biological process	IEA	3
GO:0006486	protein glycosylation	biological process	IEA	5
GO:0015012	heparan sulfate proteoglycan biosynthetic process	biological process	IEA	2
GO:0001501	skeletal system development	biological process	TAS[9037597]	16
GO:0005789	endoplasmic reticulum membrane	cellular component	IEA	52

Gene related KEGG pathways (count: 2)

ID	Name	No. of Genes in BDgene	Brief Description
hsa01030	Glycan structures - biosynthesis 1	8
hsa00534	Heparan sulfate biosynthesis	3

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: 7)

rs_ID	Location	Functional Annotation	No. of Studies (Positive/Negative/Trend)
rs1938404	chr1:26031711 - 26031711(1)	downstream_gene_variant; intron_variant; upstream_gene_variant	1(1/0/0)

rs_ID	Location	Functional Annotation
rs12072473	chr1:26026876 - 26026876(1)	intron_variant; non_coding_transcript_variant
rs12072956	chr1:26016872 - 26016872(1)	upstream_gene_variant
rs4659403	chr1:26037110 - 26037110(1)	downstream_gene_variant
rs1343830	chr1:26032731 - 26032731(1)	downstream_gene_variant; intron_variant; non_coding_transcript_variant
rs1343831	chr1:26032714 - 26032714(1)	downstream_gene_variant; intron_variant; non_coding_transcript_variant
rs12070447	chr1:26016156 - 26016156(1)	upstream_gene_variant

Gene related CNVs (count: 0)

Gene related other variants (count: 0)

Gene related regions (count: 4)

Region Name	Position	No. of Studies (Positive/Negative/Trend)
1p35-p36	chr1:0-34300000	1 (1/0/0)
1p33-p36	chr1:0-50200000	1 (0/0/1)
1p36	chr1:0-27600000	1 (0/1/0)
Chr 1	chr1:0-248956422	2 (0/2/0)

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

Gene relationship with SZ

Gene relationship with MDD

View in gBrowse

Region: chr1:26019884..26036464 View in gBrowse