ADHDgene Database

Gene Report

Basic Info

Approved Symbol	CHMP7
Symbol Alias	MGC29816
Approved Name	CHMP family, member 7
Location	8p21.2
Position	chr8:23101150-23119512, +
External Links	HGNC: 28439 Entrez Gene: 91782 Ensembl: ENSG00000147457 UCSC: uc003xdc.2
No. of Studies	1 (significant: 0; non-significant: 0; trend: 1)
Source	Literature-origin; Mapped by LD-proxy; Mapped by literature SNP

Gene related studies (count: 1)

Reference	Statistical Values/Author Comments	Result of Statistical Analysis
Neale BM, 2010 (a)	4 SNPs of top 50 hits located within the gene	Trend

Gene related SNPs (count: 11)

rs_ID	Location	Functional Annotation	No. of Studies (significant/non-significant/trend)
rs11135712	Chr8:23110503(Fwd)	NMD_transcript_variant; intron_variant; nc_transcript_variant; upstream_gene_variant	1(0/0/1)
rs2280934	Chr8:23106665(Fwd)	NMD_transcript_variant; intron_variant; nc_transcript_variant	1(0/0/1)
rs7463256	Chr8:23101620(Fwd)	intron_variant; upstream_gene_variant	1(0/0/1)
rs2294123	Chr8:23104195(Fwd)	5_prime_UTR_variant; NMD_transcript_variant; nc_transcript_variant; non_coding_exon_variant	1(0/0/1)
rs13268919	Chr8:23096594(Fwd)	upstream_gene_variant	1(0/0/1)

rs_ID	Location	Functional Annotation
rs7459962	Chr8:23101743(Fwd)	intron_variant; upstream_gene_variant
rs3736025	Chr8:23112662(Fwd)	NMD_transcript_variant; intron_variant; nc_transcript_variant; non_coding_exon_variant; upstream_gene_variant
rs13255552	Chr8:23122100(Fwd)	downstream_gene_variant
rs12544038	Chr8:23107578(Fwd)	NMD_transcript_variant; intron_variant; nc_transcript_variant; upstream_gene_variant
rs12544554	Chr8:23105268(Fwd)	NMD_transcript_variant; intron_variant; nc_transcript_variant
rs12542630	Chr8:23103658(Fwd)	intron_variant; upstream_gene_variant

Gene related CNVs (count: 0)

Gene related other variant (count: 0)

Gene related regions (count: 0)

Gene related GO terms (count: 8)

ID	Name	Type	Evidence[PMID]	No. of Genes in ADHDgene
GO:0016044	cellular membrane organization	Biological Process		24
GO:0016197	endosomal transport	Biological Process		11
GO:0005829	cytosol	Cellular Component		447
GO:0008565	protein transporter activity	Molecular Function	IMP[16856878]	11
GO:0045324	late endosome to vacuole transport	Biological Process	IMP[16856878]	1
GO:0005634	nucleus	Cellular Component		770
GO:0005737	cytoplasm	Cellular Component		690
GO:0000815	ESCRT III complex	Cellular Component	IDA[16856878]	1

Gene related KEGG pathways (count: 0)

Genes shared at least 5 GO terms with CHMP7 (count: 0)

Genes shared at least 2 KEGG pathways with CHMP7 (count: 0)

View in gBrowse

Region: chr8:23101150..23119512 View in gBrowse