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	RBFOX1
Symbol Alias	A2BP1, FOX-1, HRNBP1
Approved Name	RNA binding protein, fox-1 homolog (C. elegans) 1
Name Alias	"ataxin 2-binding protein 1", "hexaribonucleotide binding protein 1"
Location	16p13.3
Position	chr16:6069095-7763340, 1
External Links	HGNC: 18222 Entrez Gene: 54715 Ensembl: ENSG00000078328 UCSC: uc002cyy.2
No. of Studies	0 (significant: 0; non-significant: 0; trend: 0)
Source	Mapped by CNV; Mapped by significant region

Gene related studies (count: 0)

Gene related SNPs (count: 0)

Gene related CNVs (count: 3)

ID	Location	Size	Band	Type	Inheritance
CNV_Elia[2010]_186	chr16:6072599-6783832 (NCBI Build 35 (hg17))	711234	16p13.3-16p13.2	Duplication	Paternal
CNV_Elia[2010]_173	chr16:6753260-6841514 (NCBI Build 35 (hg17))	88255	16p13.2	Deletion (hemizygous)	Paternal
CNV_Elia[2010]_181	chr16:7223181-7270339 (NCBI Build 35 (hg17))	47159	16p13.2	Deletion (hemizygous)	Maternal

Gene related other variant (count: 0)

Gene related regions (count: 2)

Region Name	Position	No. of Studies (significant/non-significant/trend)
16p13	chr16:0-16800000	3 (2/1/0)
16p13.3	chr16:0-7900000	1 (1/0/0)

Gene related GO terms (count: 11)

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

GO terms by database search (count: 11)

ID	Name	Type	Evidence[PMID]	No. of Genes in ADHDgene
GO:0003723	RNA binding	molecular function	NAS[10814712]	115
GO:0000166	nucleotide binding	molecular function	IEA	83
GO:0005802	trans-Golgi network	cellular component	IDA[10814712]	29
GO:0043484	regulation of RNA splicing	biological process	IEA	4
GO:0006397	mRNA processing	biological process	IEA	53
GO:0005737	cytoplasm	cellular component	IDA[10814712]	781
GO:0005634	nucleus	cellular component	IEA	877
GO:0008380	RNA splicing	biological process	IEA	70
GO:0008022	protein C-terminus binding	molecular function	IPI[10814712]	42
GO:0005515	protein binding	molecular function	IPI[16713569]	1015
GO:0050658	RNA transport	biological process	NAS[10814712]	4

Gene related KEGG pathways (count: 0)

Genes shared at least 5 GO terms with RBFOX1 (count: 25)

Gene Symbol	Pathway Count	Pathway List
HNRNPA2B1	8	RNA binding; nucleotide binding; mRNA processing; cytoplasm; nucleus; RNA splicing; protein binding; RNA transport;
CELF1	7	RNA binding; nucleotide binding; regulation of RNA splicing; mRNA processing; cytoplasm; nucleus; protein binding;
HNRNPH1	7	RNA binding; nucleotide binding; regulation of RNA splicing; cytoplasm; nucleus; RNA splicing; protein binding;
RBM4	7	RNA binding; nucleotide binding; mRNA processing; cytoplasm; nucleus; RNA splicing; protein binding;
ATXN2	7	RNA binding; trans-Golgi network; cytoplasm; nucleus; protein C-terminus binding; protein binding; RNA transport;
SMNDC1	6	RNA binding; mRNA processing; cytoplasm; nucleus; RNA splicing; protein binding;
HNRNPA1	6	RNA binding; nucleotide binding; mRNA processing; cytoplasm; nucleus; RNA splicing;
FUS	6	RNA binding; nucleotide binding; cytoplasm; nucleus; RNA splicing; protein binding;
CPSF7	6	RNA binding; nucleotide binding; mRNA processing; nucleus; RNA splicing; protein binding;
U2AF1	6	RNA binding; nucleotide binding; mRNA processing; nucleus; RNA splicing; protein binding;
RNPS1	6	RNA binding; nucleotide binding; cytoplasm; nucleus; RNA splicing; protein binding;
SNRNP35	5	RNA binding; nucleotide binding; mRNA processing; nucleus; RNA splicing;
U2AF2	5	RNA binding; nucleotide binding; mRNA processing; RNA splicing; protein binding;
SCAF8	5	RNA binding; nucleotide binding; mRNA processing; nucleus; RNA splicing;
SRSF8	5	RNA binding; nucleotide binding; mRNA processing; nucleus; RNA splicing;
PSPC1	5	RNA binding; nucleotide binding; cytoplasm; nucleus; protein binding;
SF3B4	5	RNA binding; nucleotide binding; mRNA processing; RNA splicing; protein binding;
IGF2BP3	5	RNA binding; nucleotide binding; cytoplasm; nucleus; protein binding;
NCL	5	RNA binding; nucleotide binding; nucleus; protein C-terminus binding; protein binding;
NCBP1	5	RNA binding; mRNA processing; nucleus; RNA splicing; protein binding;
SF3A1	5	RNA binding; mRNA processing; nucleus; RNA splicing; protein binding;
PTBP3	5	RNA binding; nucleotide binding; mRNA processing; nucleus; RNA splicing;
NOL8	5	RNA binding; nucleotide binding; cytoplasm; nucleus; protein binding;
GEMIN2	5	mRNA processing; cytoplasm; nucleus; RNA splicing; protein binding;
EFTUD2	5	mRNA processing; cytoplasm; nucleus; RNA splicing; protein binding;

Genes shared at least 2 KEGG pathways with RBFOX1 (count: 0)

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Region: chr16:6069095..7763340 View in gBrowse