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	KCNIP1
Symbol Alias	KCHIP1
Approved Name	Kv channel interacting protein 1
Location	5q35
Position	chr5:169780491-170163636, +
External Links	HGNC: 15521 Entrez Gene: 30820 Ensembl: ENSG00000182132 UCSC: uc003map.2
No. of Studies	0 (significant: 0; non-significant: 0; trend: 0)
Source	Mapped by LD-proxy; Mapped by literature SNP

Gene related studies (count: 0)

Gene related SNPs (count: 45)

Literature-origin SNPs (count: 2)

rs_ID	Location	Functional Annotation	No. of Studies (significant/non-significant/trend)
rs17673653	Chr5:170166594(Fwd)	downstream_gene_variant	2(0/2/0)
rs1541665	Chr5:170142917(Fwd)	intron_variant	2(0/2/0)

LD-proxies (count: 43)

rs_ID	Location	Functional Annotation
rs984559	Chr5:170138659(Fwd)	intron_variant
rs2277951	Chr5:170149554(Fwd)	intron_variant
rs872435	Chr5:170125749(Fwd)	intron_variant
rs872436	Chr5:170126075(Fwd)	intron_variant
rs10045333	Chr5:170121808(Fwd)	intron_variant
rs905818	Chr5:170124850(Fwd)	intron_variant
rs2032863	Chr5:170155222(Fwd)	intron_variant
rs1363713	Chr5:170163094(Fwd)	3_prime_UTR_variant; downstream_gene_variant
rs905817	Chr5:170125475(Fwd)	intron_variant
rs1363714	Chr5:170163908(Fwd)	downstream_gene_variant
rs4867628	Chr5:170159072(Fwd)	intron_variant
rs11134647	Chr5:170157819(Fwd)	intron_variant
rs10475952	Chr5:170156532(Fwd)	intron_variant
rs905816	Chr5:170126256(Fwd)	intron_variant
rs4464713	Chr5:170122650(Fwd)	intron_variant
rs1363715	Chr5:170167974(Fwd)	downstream_gene_variant
rs4867629	Chr5:170167013(Fwd)	downstream_gene_variant
rs1363709	Chr5:170138012(Fwd)	intron_variant
rs4041562	Chr5:170136820(Fwd)	intron_variant
rs4349730	Chr5:170134342(Fwd)	intron_variant
rs2194162	Chr5:170132424(Fwd)	intron_variant
rs1592987	Chr5:170154088(Fwd)	intron_variant
rs9313520	Chr5:170149438(Fwd)	intron_variant
rs10462999	Chr5:170148015(Fwd)	intron_variant
rs4868017	Chr5:170144835(Fwd)	intron_variant
rs6887850	Chr5:170158266(Fwd)	intron_variant
rs6879997	Chr5:170161934(Fwd)	intron_variant
rs1055381	Chr5:170163371(Fwd)	3_prime_UTR_variant; downstream_gene_variant
rs6872337	Chr5:170163924(Fwd)	downstream_gene_variant
rs6894316	Chr5:170152191(Fwd)	intron_variant
rs1422978	Chr5:170153389(Fwd)	intron_variant
rs6870201	Chr5:170155026(Fwd)	intron_variant
rs1363711	Chr5:170156775(Fwd)	intron_variant
rs329476	Chr5:170140188(Fwd)	intron_variant
rs7733559	Chr5:170143366(Fwd)	intron_variant
rs7713498	Chr5:170143423(Fwd)	intron_variant
rs2277952	Chr5:170149573(Fwd)	intron_variant
rs50057	Chr5:170134498(Fwd)	intron_variant
rs102686	Chr5:170135225(Fwd)	intron_variant
rs329472	Chr5:170136122(Fwd)	intron_variant
rs329474	Chr5:170138022(Fwd)	intron_variant
rs11134648	Chr5:170165235(Fwd)	downstream_gene_variant
rs6890273	Chr5:170167405(Fwd)	downstream_gene_variant

Gene related CNVs (count: 0)

Gene related other variant (count: 0)

Gene related regions (count: 0)

Gene related GO terms (count: 14)

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

GO terms by database search (count: 14)

ID	Name	Type	Evidence[PMID]	No. of Genes in ADHDgene
GO:0005513	detection of calcium ion	Biological Process	TAS[10676964]	4
GO:0005509	calcium ion binding	Molecular Function		124
GO:0005267	potassium channel activity	Molecular Function		7
GO:0005244	voltage-gated ion channel activity	Molecular Function		6
GO:0007268	synaptic transmission	Biological Process	TAS[10676964]	96
GO:0007165	signal transduction	Biological Process	TAS[10676964]	171
GO:0005886	plasma membrane	Cellular Component		772
GO:0005515	protein binding	Molecular Function	IPI[15358149]	910
GO:0015459	potassium channel regulator activity	Molecular Function		7
GO:0030425	dendrite	Cellular Component		46
GO:0043025	neuronal cell body	Cellular Component		51
GO:0045760	positive regulation of action potential	Biological Process		2
GO:0046982	protein heterodimerization activity	Molecular Function		68
GO:0047485	protein N-terminus binding	Molecular Function		23

Gene related KEGG pathways (count: 0)

Genes shared at least 5 GO terms with KCNIP1 (count: 8)

Gene Symbol	Pathway Count	Pathway List
KCNIP4	6	calcium ion binding; potassium channel activity; voltage-gated ion channel activity; plasma membrane; dendrite; neuronal cell body;
SYT1	5	detection of calcium ion; calcium ion binding; synaptic transmission; plasma membrane; protein binding;
DTNA	5	calcium ion binding; synaptic transmission; signal transduction; plasma membrane; protein binding;
ADCY4	5	synaptic transmission; signal transduction; plasma membrane; protein binding; dendrite;
CHRNA3	5	synaptic transmission; signal transduction; plasma membrane; dendrite; neuronal cell body;
CHRNA4	5	synaptic transmission; signal transduction; plasma membrane; dendrite; neuronal cell body;
SLC6A3	5	synaptic transmission; plasma membrane; protein binding; neuronal cell body; protein N-terminus binding;
STX1A	5	synaptic transmission; plasma membrane; protein binding; protein heterodimerization activity; protein N-terminus binding;

Genes shared at least 2 KEGG pathways with KCNIP1 (count: 0)

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Region: chr5:169780491..170163636 View in gBrowse