ADHDgene Database

Gene Report

Basic Info

Approved Symbol	PCDP1
Symbol Alias	MGC33657
Approved Name	primary ciliary dyskinesia protein 1 [Validated RefSeq, protein coding gene]
Location	2q14.2
Position	chr2:120302025-120414237, +
External Links	Entrez Gene: 200373 Ensembl: ENSG00000163075 UCSC: uc010yyq.1
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
Lesch KP, 2008	Trend associated SNP was mapped in this gene.	Trend

Gene related SNPs (count: 9)

rs_ID	Location	Functional Annotation	No. of Studies (significant/non-significant/trend)
rs2587695	Chr2:120321817(Fwd)	NMD_transcript_variant; downstream_gene_variant; intron_variant; nc_transcript_variant	1(0/0/1)

rs_ID	Location	Functional Annotation
rs2587653	Chr2:120298231(Fwd)	upstream_gene_variant
rs2579624	Chr2:120303820(Fwd)	5_prime_UTR_variant; NMD_transcript_variant; missense_variant
rs2587710	Chr2:120311479(Fwd)	NMD_transcript_variant; intron_variant
rs2579623	Chr2:120298350(Fwd)	upstream_gene_variant
rs2587654	Chr2:120299172(Fwd)	upstream_gene_variant
rs2579626	Chr2:120309123(Fwd)	NMD_transcript_variant; intron_variant
rs2920695	Chr2:120318903(Fwd)	NMD_transcript_variant; downstream_gene_variant; intron_variant; nc_transcript_variant
rs2587706	Chr2:120323261(Fwd)	NMD_transcript_variant; downstream_gene_variant; intron_variant; nc_transcript_variant

Gene related CNVs (count: 0)

Gene related other variant (count: 0)

Gene related regions (count: 0)

Gene related GO terms (count: 2)

ID	Name	Type	Evidence[PMID]	No. of Genes in ADHDgene
GO:0005516	calmodulin binding	Molecular Function		32
GO:0005929	cilium	Cellular Component		18

Gene related KEGG pathways (count: 0)

Genes shared at least 5 GO terms with PCDP1 (count: 0)

Genes shared at least 2 KEGG pathways with PCDP1 (count: 0)

View in gBrowse

Region: chr2:120302025..120414237 View in gBrowse