ADHDgene Database

Gene Report

Basic Info

Approved Symbol	CALY
Previous Symbol	DRD1IP
Symbol Alias	CALCYON, NSG3
Approved Name	calcyon neuron-specific vesicular protein
Previous Name	dopamine receptor D1 interacting protein
Location	10q26.3
Position	chr10:135138927-135150475, -
External Links	HGNC: 17938 Entrez Gene: 50632 Ensembl: ENSG00000130643 UCSC: uc001lmo.2
No. of Studies	2 (significant: 1; non-significant: 1; trend: 0)
Source	Literature-origin; Mapped by CNV; Mapped by LD-proxy; Mapped by literature SNP

Gene related studies (count: 2)

Reference	Statistical Values/Author Comments	Result of Statistical Analysis
Brookes K, 2006	UNPHASED TDT P-value=0.246, global P-value=0.669, WHAP TDT P_sum P-value=0.948, no SNP with nominal P-value<0.05 located in this gene	Non-significant
Laurin N, 2005	Global X²(for haplotypes with frequency 45%)=8.984, 3 df, P-value=0.030; haplotype C1 TDT P-value=0.004, X²(1df)=8.434 using the TRANSMIT program; The adjusted global significance value from 10,000 permutations was P-value=0.036; these findings supported the proposed involvement of the calcyon gene in ADHD	Significant

Gene related SNPs (count: 7)

rs_ID	Location	Functional Annotation	No. of Studies (significant/non-significant/trend)
rs2275723	Chr10:135139635(Fwd)	3_prime_UTR_variant; downstream_gene_variant; intron_variant; nc_transcript_variant; non_coding_exon_variant	1(1/0/0)
rs10857701	Chr10:135145072(Fwd)	intron_variant	1(0/1/0)
rs4838721	Chr10:135160950(Fwd)	intron_variant; nc_transcript_variant; upstream_gene_variant	1(1/0/0)
rs12244716	Chr10:135128382(Fwd)	downstream_gene_variant; intron_variant; upstream_gene_variant	1(0/1/0)
rs11101694	Chr10:135146714(Fwd)	intron_variant	1(0/1/0)
rs2298122	Chr10:135141572(Fwd)	intron_variant; upstream_gene_variant	1(0/1/0)

rs_ID	Location	Functional Annotation
rs2105341	Chr10:135136072(Fwd)	downstream_gene_variant; intron_variant

Gene related CNVs (count: 1)

ID	Location	Size	Band	Type	Inheritance
CNV_Jarick[2012]_23	chr10:132453545-135284293 (NCBI36 / hg18)	2830749	10q26.3	del

Gene related other variant (count: 5)

Variant Name	Variant Type	Location in Gene	No. of Studies (significant/non-significant/trend)
CALY_3'-flanking_Calc4510_C/T	point mutation	3' flanking	1 (0/1/0)
CALY_intron2_hCV25595220_C/T	point mutation	intron 2	1 (0/1/0)
CALY_intron5_Calc4760_C/T	point mutation	intron 5	1 (0/1/0)
CALY_intron5_Calc4801_C/A	point mutation	intron 5	1 (0/1/0)
CALY_promoter_Calc-189_C/A	point mutation	promoter	1 (0/1/0)

Gene related regions (count: 0)

Gene related GO terms (count: 9)

ID	Name	Type	Evidence[PMID]	No. of Genes in ADHDgene
GO:0005887	integral to plasma membrane	Cellular Component	IDA[14534309]	220
GO:0032051	clathrin light chain binding	Molecular Function	IDA[16595675]	1
GO:0045807	positive regulation of endocytosis	Biological Process	IMP[16595675]	6
GO:0048268	clathrin coat assembly	Biological Process	IDA[16595675]	3
GO:0050780	dopamine receptor binding	Molecular Function		1
GO:0006897	endocytosis	Biological Process		23
GO:0007212	dopamine receptor signaling pathway	Biological Process		3
GO:0030659	cytoplasmic vesicle membrane	Cellular Component		18
GO:0031410	cytoplasmic vesicle	Cellular Component	IDA[16595675]	20

Gene related KEGG pathways (count: 0)

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

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

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Region: chr10:135138927..135150475 View in gBrowse