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	AHI1
Symbol Alias	FLJ20069, ORF1, JBTS3
Approved Name	Abelson helper integration site 1
Previous Name	Abelson helper integration site
Name Alias	Jouberin
Location	6q23.2
Position	chr6:135604670-135818914, -
External Links	HGNC: 21575 Entrez Gene: 54806 Ensembl: ENSG00000135541 UCSC: uc003qgj.2
No. of Studies	0 (significant: 0; non-significant: 0; trend: 0)
Source	Mapped by significant region

Gene related studies (count: 0)

Gene related SNPs (count: 0)

Gene related CNVs (count: 0)

Gene related other variant (count: 0)

Gene related regions (count: 1)

Region Name	Position	No. of Studies (significant/non-significant/trend)
6q22-23	chr6:114600000-139000000	1 (1/0/0)

Gene related GO terms (count: 34)

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

GO terms by database search (count: 34)

ID	Name	Type	Evidence[PMID]	No. of Genes in ADHDgene
GO:0001738	morphogenesis of a polarized epithelium	Biological Process		2
GO:0001947	heart looping	Biological Process		5
GO:0030902	hindbrain development	Biological Process		3
GO:0030862	positive regulation of polarized epithelial cell differentiation	Biological Process		1
GO:0033365	protein localization to organelle	Biological Process		4
GO:0031513	nonmotile primary cilium	Cellular Component		2
GO:0007417	central nervous system development	Biological Process		22
GO:0007169	transmembrane receptor protein tyrosine kinase signaling pathway	Biological Process		16
GO:0016192	vesicle-mediated transport	Biological Process		28
GO:0010842	retina layer formation	Biological Process		3
GO:0005912	adherens junction	Cellular Component	IDA[18633336]	9
GO:0005911	cell-cell junction	Cellular Component	IDA[18633336]	20
GO:0005932	microtubule basal body	Cellular Component	IDA[18633336]	13
GO:0005929	cilium	Cellular Component		18
GO:0005515	protein binding	Molecular Function		910
GO:0002092	positive regulation of receptor internalization	Biological Process		7
GO:0005814	centriole	Cellular Component		11
GO:0005813	centrosome	Cellular Component	IDA[18633336]	71
GO:0071599	otic vesicle development	Biological Process		1
GO:0072372	primary cilium	Cellular Component	IDA[18633336]	3
GO:0070121	Kupffer's vesicle development	Biological Process		1
GO:0070986	left/right axis specification	Biological Process		1
GO:0060271	cilium morphogenesis	Biological Process		10
GO:0065001	specification of axis polarity	Biological Process		1
GO:0045944	positive regulation of transcription from RNA polymerase II promoter	Biological Process		131
GO:0050795	regulation of behavior	Biological Process		3
GO:0042384	cilium assembly	Biological Process		15
GO:0043066	negative regulation of apoptotic process	Biological Process		77
GO:0039008	pronephric nephron tubule morphogenesis	Biological Process		1
GO:0039023	pronephric duct morphogenesis	Biological Process		1
GO:0035845	photoreceptor cell outer segment organization	Biological Process		1
GO:0036038	TCTN-B9D complex	Cellular Component		5
GO:0034613	cellular protein localization	Biological Process		9
GO:0035844	cloaca development	Biological Process		1

Gene related KEGG pathways (count: 0)

Genes shared at least 5 GO terms with AHI1 (count: 4)

Gene Symbol	Pathway Count	Pathway List
TFAP2A	5	retina layer formation; protein binding; centrosome; positive regulation of transcription from RNA polymerase II promoter; negative regulation of apoptotic process;
B9D1	5	microtubule basal body; centrosome; cilium morphogenesis; cilium assembly; TCTN-B9D complex;
CEP250	5	microtubule basal body; cilium; protein binding; centriole; centrosome;
TMEM216	5	microtubule basal body; cilium; cilium morphogenesis; cilium assembly; TCTN-B9D complex;

Genes shared at least 2 KEGG pathways with AHI1 (count: 0)

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Region: chr6:135604670..135818914 View in gBrowse