Gene Report

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Basic Info

Approved Symbol	BET1
Symbol Alias	hbet1
Approved Name	Bet1 golgi vesicular membrane trafficking protein
Previous Name	Bet1 (S. cerevisiae) homolog, "BET1 homolog (S. cerevisiae)", "blocked early in transport 1 homolog (S. cerevisiae)"
Name Alias	Golgi vesicular membrane trafficking protein p18, "Bet1p homolog"
Location	7q21.1-q22
Position	chr7:93962762-94004382, -1
External Links	HGNC: 14562 Entrez Gene: 10282 Ensembl: ENSG00000105829 UCSC: uc003unf.1
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: rs10257353	BET1 has been implicated in intelligence.	Positive	Comment on Study

Gene functional annotation

Gene related GO terms (count: 11)

ID	Name	Type	Evidence[PMID]	No. of Genes in BDgene
GO:0016020	membrane	cellular component	IDA[19946888]	137
GO:0016021	integral component of membrane	cellular component	IEA	219

ID	Name	Type	Evidence[PMID]	No. of Genes in BDgene
GO:0031985	Golgi cisterna	cellular component	IEA	3
GO:0005801	cis-Golgi network	cellular component	IEA	3
GO:0048280	vesicle fusion with Golgi apparatus	biological process	IEA	2
GO:0000139	Golgi membrane	cellular component	IEA	36
GO:0006888	ER to Golgi vesicle-mediated transport	biological process	IEA	6
GO:0005789	endoplasmic reticulum membrane	cellular component	IEA	52
GO:0005515	protein binding	molecular function	IPI[16189514]	563
GO:0019905	syntaxin binding	molecular function	IEA	5
GO:0015031	protein transport	biological process	IEA	21

Gene related KEGG pathways (count: 1)

ID	Name	No. of Genes in BDgene	Brief Description
hsa04130	SNARE interactions in vesicular transport	7

Gene related BioCarta pathways (count: 0)

Gene related interactors from protein-protein interactions data in HPRD (count: 2)

Gene	Interactor	Interactor in BDgene?	Experiment Type	PMID
BET1	STX5	NO	in vitro;in vivo	9094723
BET1	USHBP1	NO	yeast 2-hybrid	16189514

Related other genetic factors

Gene related SNPs (count: 8)

rs_ID	Location	Functional Annotation	No. of Studies (Positive/Negative/Trend)
rs10257353	chr7:93971857 - 93971857(1)	downstream_gene_variant; intron_variant; NMD_transcript_variant; non_coding_transcript_variant; upstream_gene_variant	1(1/0/0)

rs_ID	Location	Functional Annotation
rs4729101	chr7:93961174 - 93961174(1)	downstream_gene_variant; upstream_gene_variant
rs4729103	chr7:93961368 - 93961368(1)	downstream_gene_variant; upstream_gene_variant
rs4729104	chr7:93961811 - 93961811(1)	downstream_gene_variant
rs1008454	chr7:93973820 - 93973820(1)	intron_variant; NMD_transcript_variant; non_coding_transcript_variant
rs4729105	chr7:93977569 - 93977569(1)	intron_variant; NMD_transcript_variant; non_coding_transcript_variant
rs10264310	chr7:93978716 - 93978716(1)	intron_variant; NMD_transcript_variant; non_coding_transcript_variant
rs2041518	chr7:93984426 - 93984426(1)	intron_variant; NMD_transcript_variant; non_coding_transcript_variant

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)
7q21	chr7:77900000-98400000	4 (0/2/2)
7q21.3	chr7:93300000-98400000	1 (0/1/0)
7q21-31	chr7:77900000-127500000	1 (1/0/0)
Chr 7	chr7:0-159345973	3 (0/3/0)
7p15-q21	chr7:20900000-98400000	1 (0/1/0)

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

Gene relationship with SZ

Gene relationship with MDD

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Region: chr7:93962762..94004382 View in gBrowse