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	chr16:6069132-7763340, +
External Links	HGNC: 18222 Entrez Gene: 54715 Ensembl: ENSG00000078328
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: 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: 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:0043484	regulation of RNA splicing	Biological Process		4
GO:0050658	RNA transport	Biological Process	NAS[10814712]	4
GO:0003723	RNA binding	Molecular Function	NAS[10814712]	104
GO:0005515	protein binding	Molecular Function	IPI[16713569]	910
GO:0005634	nucleus	Cellular Component		770
GO:0005737	cytoplasm	Cellular Component	IDA[10814712]	690
GO:0000166	nucleotide binding	Molecular Function		73
GO:0005802	trans-Golgi network	Cellular Component	IDA[10814712]	28
GO:0006397	mRNA processing	Biological Process		50
GO:0008022	protein C-terminus binding	Molecular Function	IPI[10814712]	32
GO:0008380	RNA splicing	Biological Process		65

Gene related KEGG pathways (count: 0)

Genes shared at least 5 GO terms with RBFOX1 (count: 22)

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

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

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Region: chr16:6069132..7763340 View in gBrowse