Gene Report

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Basic Info

Approved Symbol	ASTN1
Previous Symbol	ASTN
Approved Name	astrotactin 1
Previous Name	astrotactin
Location	1q25.2
Position	chr1:176857302-177164973, -1
External Links	HGNC: 773 Entrez Gene: 460 Ensembl: ENSG00000152092 UCSC: uc001glc.4
No. of Studies	1 (Positive: 1; Negative: 0; 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
Gratacos, M.,2009	SNP: rs2281180	Nominal associations with bipolar disorder was observed.	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:0009897	external side of plasma membrane	cellular component	IEA	21
GO:0005768	endosome	cellular component	IEA	27
GO:0007626	locomotory behavior	biological process	IEA	23
GO:0005575	cellular_component	cellular component	ND	19
GO:0007158	neuron cell-cell adhesion	biological process	IEA	6
GO:0001764	neuron migration	biological process	IEA	18

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: 21)

rs_ID	Location	Functional Annotation	No. of Studies (Positive/Negative/Trend)
rs2281180	chr1:176894700 - 176894700(1)	missense_variant; synonymous_variant	1(1/0/0)

rs_ID	Location	Functional Annotation
rs2206318	chr1:176853496 - 176853496(1)	downstream_gene_variant
rs6425397	chr1:176861842 - 176861842(1)	3_prime_UTR_variant; intron_variant
rs2206319	chr1:176874900 - 176874900(1)	intron_variant
rs2076341	chr1:176876392 - 176876392(1)	intron_variant
rs6425398	chr1:176863477 - 176863477(1)	3_prime_UTR_variant; intron_variant
rs4652196	chr1:176865500 - 176865500(1)	downstream_gene_variant; intron_variant
rs4652201	chr1:176885381 - 176885381(1)	intron_variant
rs2072935	chr1:176888211 - 176888211(1)	intron_variant; splice_region_variant
rs2072936	chr1:176877081 - 176877081(1)	intron_variant
rs4652199	chr1:176877926 - 176877926(1)	intron_variant
rs6685449	chr1:176891486 - 176891486(1)	intron_variant
rs6679355	chr1:176890166 - 176890166(1)	intron_variant
rs6679170	chr1:176889980 - 176889980(1)	intron_variant
rs2206316	chr1:176889648 - 176889648(1)	intron_variant
rs2205889	chr1:176905579 - 176905579(1)	intron_variant
rs7555335	chr1:176903198 - 176903198(1)	intron_variant
rs1555068	chr1:176895259 - 176895259(1)	intron_variant
rs2228956	chr1:176894731 - 176894731(1)	missense_variant
rs4652205	chr1:176908737 - 176908737(1)	intron_variant
rs10442617	chr1:176906168 - 176906168(1)	intron_variant

Gene related CNVs (count: 0)

Gene related other variants (count: 0)

Gene related regions (count: 2)

Region Name	Position	No. of Studies (Positive/Negative/Trend)
1p32.1-q31.1	chr1:58500000-190800000	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

Reference	ID in SZGene	Result Category
18384059	708	Positive

Gene relationship with MDD

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Region: chr1:176857302..177164973 View in gBrowse