ADHDgene Database

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Large-scale studies

Data Summary

Published Variant
- SNP: 1391
- CNV: 398
- Others: 173
Published Gene: 359
Published Region: 128
Pathway by PBA: 8
Study: 361

Detail ...

Gene Report

Basic Info

Approved Symbol	KIAA0319
Approved Name	KIAA0319
Location	6p22.3-p22.2
Position	chr6:24544332-24646383, -
External Links	HGNC: 21580 Entrez Gene: 9856 Ensembl: ENSG00000137261 UCSC: uc003neh.1
No. of Studies	1 (significant: 0; non-significant: 1; trend: 0)
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
Couto JM, 2009	SNPs in this gene were not associated with ADHD.	Non-significant

Gene related SNPs (count: 48)

Literature-origin SNPs (count: 5)

rs_ID	Location	Functional Annotation	No. of Studies (significant/non-significant/trend)
rs6935076	Chr6:24644322(Fwd)	intron_variant	1(0/1/0)
rs4504469	Chr6:24588884(Fwd)	missense_variant	1(0/1/0)
rs12194307	Chr6:24625562(Fwd)	intron_variant	1(0/1/0)
rs2038137	Chr6:24645943(Fwd)	5_prime_UTR_variant; downstream_gene_variant; intron_variant	1(0/1/0)
rs12213672	Chr6:24628679(Fwd)	intron_variant	1(0/1/0)

LD-proxies (count: 43)

rs_ID	Location	Functional Annotation
rs6917244	Chr6:24638047(Fwd)	intron_variant
rs12209409	Chr6:24616989(Fwd)	intron_variant
rs11759149	Chr6:24628090(Fwd)	intron_variant
rs12195384	Chr6:24638300(Fwd)	intron_variant
rs12210684	Chr6:24601804(Fwd)	downstream_gene_variant; intron_variant
rs10946707	Chr6:24608307(Fwd)	intron_variant
rs11757448	Chr6:24613438(Fwd)	intron_variant
rs13206235	Chr6:24613847(Fwd)	intron_variant
rs16889556	Chr6:24641605(Fwd)	intron_variant
rs10456309	Chr6:24589562(Fwd)	intron_variant
rs13209442	Chr6:24597176(Fwd)	intron_variant; upstream_gene_variant
rs17307430	Chr6:24599574(Fwd)	intron_variant; nc_transcript_variant; non_coding_exon_variant
rs16889516	Chr6:24608559(Fwd)	intron_variant
rs2179515	Chr6:24628203(Fwd)	intron_variant
rs9366573	Chr6:24628472(Fwd)	intron_variant
rs13204166	Chr6:24608687(Fwd)	intron_variant
rs7751357	Chr6:24625398(Fwd)	intron_variant
rs2817200	Chr6:24584366(Fwd)	intron_variant
rs13218075	Chr6:24599246(Fwd)	intron_variant; nc_transcript_variant; non_coding_exon_variant
rs6903205	Chr6:24631797(Fwd)	intron_variant
rs6923652	Chr6:24631960(Fwd)	intron_variant
rs9358777	Chr6:24629839(Fwd)	intron_variant
rs6456622	Chr6:24631558(Fwd)	intron_variant
rs9393570	Chr6:24629772(Fwd)	intron_variant
rs9393571	Chr6:24629821(Fwd)	intron_variant
rs6938069	Chr6:24628993(Fwd)	intron_variant
rs6917660	Chr6:24629106(Fwd)	intron_variant
rs7760198	Chr6:24639517(Fwd)	intron_variant
rs6456624	Chr6:24639223(Fwd)	intron_variant
rs7755563	Chr6:24638711(Fwd)	intron_variant
rs2223590	Chr6:24637087(Fwd)	intron_variant
rs9358783	Chr6:24636270(Fwd)	intron_variant
rs4712835	Chr6:24634379(Fwd)	intron_variant
rs761101	Chr6:24632532(Fwd)	intron_variant
rs6923867	Chr6:24632137(Fwd)	intron_variant
rs761100	Chr6:24632642(Fwd)	intron_variant
rs1555090	Chr6:24648107(Fwd)	downstream_gene_variant; upstream_gene_variant
rs2038135	Chr6:24645967(Fwd)	5_prime_UTR_variant; downstream_gene_variant; upstream_gene_variant
rs2328846	Chr6:24645195(Fwd)	intron_variant
rs9379678	Chr6:24640615(Fwd)	intron_variant
rs9366575	Chr6:24640488(Fwd)	intron_variant
rs9356941	Chr6:24640442(Fwd)	intron_variant
rs9356940	Chr6:24640196(Fwd)	intron_variant

Gene related CNVs (count: 0)

Gene related other variant (count: 0)

Gene related regions (count: 0)

Gene related GO terms (count: 7)

GO terms by PBA (with statistical significance of FDR<0.05) (count: 0)

GO terms by database search (count: 7)

ID	Name	Type	Evidence[PMID]	No. of Genes in ADHDgene
GO:0005886	plasma membrane	Cellular Component	IDA[19419997]	772
GO:0016021	integral to membrane	Cellular Component		845
GO:0031901	early endosome membrane	Cellular Component		9
GO:2000171	negative regulation of dendrite development	Biological Process	IGI[19679544]	2
GO:0001764	neuron migration	Biological Process	IGI[19679544]	21
GO:0005515	protein binding	Molecular Function	IPI[19419997]	910
GO:0005769	early endosome	Cellular Component	IDA[19419997]	25

Gene related KEGG pathways (count: 0)

Genes shared at least 5 GO terms with KIAA0319 (count: 0)

Genes shared at least 2 KEGG pathways with KIAA0319 (count: 0)

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Region: chr6:24544332..24646383 View in gBrowse