Gene Report

ADD to My Gene Set

Basic Info

Approved Symbol	ADSL
Approved Name	adenylosuccinate lyase
Location	22q13.1
Position	chr22:40346500-40390463, 1
External Links	HGNC: 291 Entrez Gene: 158 Ensembl: ENSG00000239900 UCSC: uc003ayp.4
No. of Studies	2 (Positive: 1; Negative: 1; trend: 0)
Overlap with SZ?	YES
Overlap with MDD?	NO

Gene related studies (count: 2)

Reference	Tested Markers	Statistical Values/Author Comments	Result Category	Comment on Study
Yosifova, A.,2009	SNP: rs909669	No SNP of this gene had significant association with BD in our population.	Negative	Comment on Study
Severinsen, J. E., 2006 (a)	SNP: rs909669 Haplotype: D22S279 - rs909669(), rs133068 - D22S279 - rs909669(), rs133069 - rs133068 - D22S279 - rs909669(), rs133070 - rs133069 - rs133068 - D22S279 - rs909669 (), rs909669 - D22S279 - rs133068 - rs133069 - rs133070(C-7-C-C-A), rs909669 - D22S279 - rs133068 - rs133069 - rs133070(C-6-C-C-A), rs909669 - D22S279 - rs133068 - rs133069 - rs133070(C-6/7-C-C-A)	one SNP and haplotypes are associated with BPD in this sample	Positive	Comment on Study

Gene functional annotation

Gene related GO terms (count: 13)

ID	Name	Type	Evidence[PMID]	No. of Genes in BDgene
GO:0006189	'de novo' IMP biosynthetic process	biological process	IEA	1
GO:0005829	cytosol	cellular component	TAS	223
GO:0055086	nucleobase-containing small molecule metabolic process	biological process	TAS	4
GO:0009168	purine ribonucleoside monophosphate biosynthetic process	biological process	TAS	2
GO:0004018	N6-(1,2-dicarboxyethyl)AMP AMP-lyase (fumarate-forming) activity	molecular function	IDA[10888601]; IDA[10888601]; TAS	1
GO:0044281	small molecule metabolic process	biological process	TAS	117
GO:0070626	(S)-2-(5-amino-1-(5-phospho-D-ribosyl)imidazole-4-carboxamido)succinate AMP-lyase (fumarate-forming) activity	molecular function	IEA	1
GO:0006164	purine nucleotide biosynthetic process	biological process	IC[10888601]	2
GO:0006144	purine nucleobase metabolic process	biological process	TAS	3
GO:0008152	metabolic process	biological process	IDA[10888601]	50
GO:0044208	'de novo' AMP biosynthetic process	biological process	IEA	2
GO:0006167	AMP biosynthetic process	biological process	IDA[11428554]	2
GO:0051262	protein tetramerization	biological process	IDA[16973378]	2

Gene related KEGG pathways (count: 2)

ID	Name	No. of Genes in BDgene	Brief Description
hsa00230	Purine metabolism	12

ID	Name	No. of Genes in BDgene	Brief Description
hsa00252	Alanine and aspartate metabolism	5

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)
rs909669	chr22:40346413 - 40346413(1)	upstream_gene_variant	2(1/1/0)

Gene related CNVs (count: 0)

Gene related other variants (count: 0)

Gene related regions (count: 5)

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)
22q13	chr22:37200000-50818468	1 (1/0/0)
22q13.1	chr22:37200000-40600000	1 (0/0/1)

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

Gene relationship with SZ

Reference	Description	Result Category
16741940	one SNP and haplotypes are associated with SZ in this sample	Positive

Reference	ID in SZGene	Result Category
16741940	409	Positive

Gene relationship with MDD

View in gBrowse

Region: chr22:40346500..40390463 View in gBrowse