Gene Report

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Basic Info

Approved Symbol	RNPEPL1
Approved Name	arginyl aminopeptidase (aminopeptidase B)-like 1
Location	2q37.3
Position	chr2:240565804-240581372, 1
External Links	HGNC: 10079 Entrez Gene: 57140 Ensembl: ENSG00000142327 UCSC: uc002vzi.4
No. of Studies	2 (Positive: 1; Negative: 0; trend: 1)
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
Moskvina, V.,2009		In BP:Smallest P-value per gene=0.00005, Product of P truncation <=0.01=0.00001, Product of P truncation <=0.001=0.00001. It showed evidence for association with BD.	Positive	Comment on Study
Feng, T.,2010	SNP: rs6730107	This gene showed moderate association evidence.	Trend	Comment on Study

Gene functional annotation

Gene related GO terms (count: 5)

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:0008270	zinc ion binding	molecular function	IEA	77
GO:0019370	leukotriene biosynthetic process	biological process	IEA	3
GO:0006508	proteolysis	biological process	IEA	34
GO:0004177	aminopeptidase activity	molecular function	IEA	3

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: 6)

rs_ID	Location	Functional Annotation	No. of Studies (Positive/Negative/Trend)
rs6730107	chr2:240570295 - 240570295(1)	intron_variant; non_coding_transcript_variant; upstream_gene_variant	1(0/0/1)
rs2953145	chr2:240576179 - 240576179(1)	downstream_gene_variant; intron_variant; non_coding_transcript_exon_variant; non_coding_transcript_variant	1(0/0/1)
rs2953146	chr2:240575835 - 240575835(1)	downstream_gene_variant; intron_variant; non_coding_transcript_exon_variant; non_coding_transcript_variant	1(0/0/1)
rs1133353	chr2:240582850 - 240582850(1)	downstream_gene_variant; non_coding_transcript_exon_variant; non_coding_transcript_variant; upstream_gene_variant	1(0/0/1)

rs_ID	Literature-origin SNPs with LD	Location	Functional Annotation
rs2953177		chr2:240577199 - 240577199(1)	downstream_gene_variant; intron_variant; non_coding_transcript_variant
rs2975748		chr2:240579572 - 240579572(1)	3_prime_UTR_variant; downstream_gene_variant

Gene related CNVs (count: 2)

ID	Location	Size	Band	Type	Inheritance
CNV_Kember[2015]_5	chr2:241500674-241516094 (UCSC build 37, hg19)	24920		duplication
CNV_Kember[2015]_6	chr2:241482099-241516094 (UCSC build 37, hg19)	24920		duplication

Gene related other variants (count: 0)

Gene related regions (count: 4)

Region Name	Position	No. of Studies (Positive/Negative/Trend)
2q37-2qter	chr2:230100000-242193529	1 (0/0/1)
2q37	chr2:230100000-242193529	1 (0/1/0)
2q37.3	chr2:236400000-242193529	1 (0/1/0)
Chr 2	chr2:0-242193529	3 (0/3/0)

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

Gene relationship with SZ

Reference	Description	Result Category
19065143	It showed no evidence for association with SZ.	Negative

Gene relationship with MDD

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Region: chr2:240565804..240581372 View in gBrowse