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	ITPA
Previous Symbol	C20orf37
Symbol Alias	HLC14-06-P, dJ794I6.3
Approved Name	inosine triphosphatase (nucleoside triphosphate pyrophosphatase)
Location	20p
Position	chr20:3189514-3204516, +
External Links	HGNC: 6176 Entrez Gene: 3704 Ensembl: ENSG00000125877 UCSC: uc002wid.2
No. of Studies	0 (significant: 0; non-significant: 0; trend: 0)
Source	Mapped by CNV

Gene related studies (count: 0)

Gene related SNPs (count: 0)

Gene related CNVs (count: 1)

ID	Location	Size	Band	Type	Inheritance
CNV_Williams[2010]_35	chr20:3036010-3839896 (NCBI Build 36.1 (hg18))	803887	20p13	Loss	De novo

Gene related other variant (count: 0)

Gene related regions (count: 0)

Gene related GO terms (count: 6)

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

GO terms by database search (count: 6)

ID	Name	Type	No. of Genes in ADHDgene
GO:0035870	dITP diphosphatase activity	Molecular Function	1
GO:0046872	metal ion binding	Molecular Function	170
GO:0005737	cytoplasm	Cellular Component	690
GO:0006193	ITP catabolic process	Biological Process	1
GO:0000166	nucleotide binding	Molecular Function	73
GO:0051276	chromosome organization	Biological Process	5

Gene related KEGG pathways (count: 4)

ID	Name	No. of Genes in ADHDgene
hsa00230	Purine metabolism	22
hsa01100	Metabolic pathways	237
hsa00983	Drug metabolism - other enzymes	25
hsa00240	Pyrimidine metabolism	13

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

Genes shared at least 2 KEGG pathways with ITPA (count: 37)

Gene Symbol	Pathway Count	Pathway List
NT5M	3	Purine metabolism; Metabolic pathways; Pyrimidine metabolism;
POLA2	3	Purine metabolism; Metabolic pathways; Pyrimidine metabolism;
POLD3	3	Purine metabolism; Metabolic pathways; Pyrimidine metabolism;
POLD4	3	Purine metabolism; Metabolic pathways; Pyrimidine metabolism;
POLE	3	Purine metabolism; Metabolic pathways; Pyrimidine metabolism;
POLE3	3	Purine metabolism; Metabolic pathways; Pyrimidine metabolism;
POLR1A	3	Purine metabolism; Metabolic pathways; Pyrimidine metabolism;
POLR2G	3	Purine metabolism; Metabolic pathways; Pyrimidine metabolism;
RRM2	3	Purine metabolism; Metabolic pathways; Pyrimidine metabolism;
UPB1	3	Metabolic pathways; Drug metabolism - other enzymes; Pyrimidine metabolism;
APRT	2	Purine metabolism; Metabolic pathways;
ATIC	2	Purine metabolism; Metabolic pathways;
ENPP1	2	Purine metabolism; Metabolic pathways;
ENPP3	2	Purine metabolism; Metabolic pathways;
POLR3E	2	Purine metabolism; Pyrimidine metabolism;
CES1	2	Metabolic pathways; Drug metabolism - other enzymes;
CES5A	2	Metabolic pathways; Drug metabolism - other enzymes;
NAT2	2	Metabolic pathways; Drug metabolism - other enzymes;
UGT1A1	2	Metabolic pathways; Drug metabolism - other enzymes;
UGT1A10	2	Metabolic pathways; Drug metabolism - other enzymes;
UGT1A3	2	Metabolic pathways; Drug metabolism - other enzymes;
UGT1A4	2	Metabolic pathways; Drug metabolism - other enzymes;
UGT1A5	2	Metabolic pathways; Drug metabolism - other enzymes;
UGT1A6	2	Metabolic pathways; Drug metabolism - other enzymes;
UGT1A7	2	Metabolic pathways; Drug metabolism - other enzymes;
UGT1A8	2	Metabolic pathways; Drug metabolism - other enzymes;
UGT1A9	2	Metabolic pathways; Drug metabolism - other enzymes;
UGT2A1	2	Metabolic pathways; Drug metabolism - other enzymes;
UGT2A2	2	Metabolic pathways; Drug metabolism - other enzymes;
UGT2A3	2	Metabolic pathways; Drug metabolism - other enzymes;
UGT2B10	2	Metabolic pathways; Drug metabolism - other enzymes;
UGT2B11	2	Metabolic pathways; Drug metabolism - other enzymes;
UGT2B15	2	Metabolic pathways; Drug metabolism - other enzymes;
UGT2B17	2	Metabolic pathways; Drug metabolism - other enzymes;
UGT2B28	2	Metabolic pathways; Drug metabolism - other enzymes;
UGT2B4	2	Metabolic pathways; Drug metabolism - other enzymes;
UGT2B7	2	Metabolic pathways; Drug metabolism - other enzymes;

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Region: chr20:3189514..3204516 View in gBrowse