Gene Report

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Basic Info

Approved Symbol	ADAMTSL1
Previous Symbol	C9orf94
Symbol Alias	ADAMTSR1, FLJ35283
Approved Name	ADAMTS-like 1
Previous Name	chromosome 9 open reading frame 94
Name Alias	punctin
Location	9p21.3
Position	chr9:17906563-18910950, 1
External Links	HGNC: 14632 Entrez Gene: 92949 Ensembl: ENSG00000178031 UCSC: uc003zne.4
No. of Studies	1 (Positive: 0; Negative: 1; 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
Lee, M. T.,2011	SNP: rs576026	No significant associations were detected in BPI patients.	Negative	Comment on Study

Gene functional annotation

Gene related GO terms (count: 9)

ID	Name	Type	Evidence[PMID]	No. of Genes in BDgene
GO:0008237	metallopeptidase activity	molecular function	IEA	8

ID	Name	Type	Evidence[PMID]	No. of Genes in BDgene
GO:0043687	post-translational protein modification	biological process	TAS	9
GO:0005788	endoplasmic reticulum lumen	cellular component	TAS	8
GO:0005578	proteinaceous extracellular matrix	cellular component	IEA	19
GO:0006508	proteolysis	biological process	IEA	34
GO:0008270	zinc ion binding	molecular function	IEA	77
GO:0044267	cellular protein metabolic process	biological process	TAS	28
GO:0036066	protein O-linked fucosylation	biological process	TAS	1
GO:0006493	protein O-linked glycosylation	biological process	TAS	6

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: 8)

rs_ID	Location	Functional Annotation	No. of Studies (Positive/Negative/Trend)
rs576026	chr9:18733464 - 18733464(1)	intron_variant; non_coding_transcript_variant	1(0/1/0)
rs1411792	chr9:18149176 - 18149176(1)	intron_variant	1(0/1/0)

rs_ID	Location	Functional Annotation
rs7858383	chr9:18141411 - 18141411(1)	intron_variant
rs1331087	chr9:18139861 - 18139861(1)	intron_variant
rs10963464	chr9:18130565 - 18130565(1)	intron_variant
rs1821376	chr9:18718188 - 18718188(1)	intron_variant; non_coding_transcript_exon_variant; non_coding_transcript_variant
rs4977341	chr9:18718347 - 18718347(1)	intron_variant; non_coding_transcript_exon_variant; non_coding_transcript_variant
rs1537136	chr9:18151989 - 18151989(1)	intron_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)
9p22.3-p21.1	chr9:14200000-33200000	1 (0/0/1)
9p22	chr9:14200000-19900000	1 (0/0/1)
Chr 9	chr9:0-138394717	3 (0/3/0)

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

Gene relationship with SZ

Gene relationship with MDD

View in gBrowse

Region: chr9:17906563..18910950 View in gBrowse