Gene Report

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Basic Info

Approved Symbol	ATXN7L1
Previous Symbol	ATXN7L4
Symbol Alias	KIAA1218, MGC33190
Approved Name	ataxin 7-like 1
Previous Name	ataxin 7-like 4
Location	7q22.1
Position	chr7:105605067-105876604, -1
External Links	HGNC: 22210 Entrez Gene: 222255 Ensembl: ENSG00000146776 UCSC: uc003vde.2
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
Chen, X., 2015	SNP: rs12535264	ATXN7L1 has been implicated in autism.	Positive	Comment on Study

Gene functional annotation

Gene related GO terms (count: 1)

ID	Name	Type	Evidence[PMID]	No. of Genes in BDgene
GO:0005515	protein binding	molecular function	IPI[25416956]	563

Gene related KEGG pathways (count: 0)

Gene related BioCarta pathways (count: 0)

Gene related interactors from protein-protein interactions data in HPRD (count: 1)

Gene	Interactor	Interactor in BDgene?	Experiment Type	PMID
ATXN7L1	SSPO	NO	yeast 2-hybrid	12421765

Related other genetic factors

Gene related SNPs (count: 4)

rs_ID	Location	Functional Annotation	No. of Studies (Positive/Negative/Trend)
rs12535264	chr7:105605307 - 105605307(1)	3_prime_UTR_variant; downstream_gene_variant; upstream_gene_variant	1(1/0/0)

rs_ID	Location	Functional Annotation
rs7777200	chr7:105607023 - 105607023(1)	3_prime_UTR_variant; downstream_gene_variant
rs16871759	chr7:105612365 - 105612365(1)	downstream_gene_variant; intron_variant
rs17150293	chr7:105605430 - 105605430(1)	3_prime_UTR_variant; downstream_gene_variant; 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)
7q22.3	chr7:104900000-107800000	1 (1/0/0)
7q21-31	chr7:77900000-127500000	1 (1/0/0)
7q22	chr7:98400000-107800000	1 (0/1/0)
Chr 7	chr7:0-159345973	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: chr7:105605067..105876604 View in gBrowse