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	U2AF1
Previous Symbol	U2AFBP
Symbol Alias	U2AF35, RNU2AF1, RN
Approved Name	U2 small nuclear RNA auxiliary factor 1
Previous Name	U2(RNU2) small nuclear RNA auxiliary factor binding protein, "U2(RNU2) small nuclear RNA auxiliary factor 1"
Location	21q22.3
Position	chr21:44513066-44527697, -
External Links	HGNC: 12453 Entrez Gene: 7307 Ensembl: ENSG00000160201 UCSC: uc002zdb.1
No. of Studies	0 (significant: 0; non-significant: 0; trend: 0)
Source	Mapped by PBA pathway

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: 0)

Gene related GO terms (count: 20)

GO terms by PBA (with statistical significance of FDR<0.05) (count: 1)

ID	Name	Type	Evidence[PMID]	No. of Genes in ADHDgene
GO:0005681	spliceosomal complex	Cellular Component	IDA[9731529]	51

GO terms by database search (count: 19)

ID	Name	Type	Evidence[PMID]	No. of Genes in ADHDgene
GO:0005515	protein binding	Molecular Function		910
GO:0005634	nucleus	Cellular Component		770
GO:0005654	nucleoplasm	Cellular Component		183
GO:0005730	nucleolus	Cellular Component		243
GO:0006366	transcription from RNA polymerase II promoter	Biological Process		62
GO:0006369	termination of RNA polymerase II transcription	Biological Process		14
GO:0006397	mRNA processing	Biological Process	TAS[1388271]	50
GO:0000166	nucleotide binding	Molecular Function		73
GO:0000398	mRNA splicing, via spliceosome	Biological Process	IC[9731529]	54
GO:0003723	RNA binding	Molecular Function		104
GO:0071013	catalytic step 2 spliceosome	Cellular Component	IDA[11991638]	31
GO:0050733	RS domain binding	Molecular Function		1
GO:0031124	mRNA 3'-end processing	Biological Process		8
GO:0016607	nuclear speck	Cellular Component		34
GO:0015030	Cajal body	Cellular Component	TAS[1388271]	11
GO:0010467	gene expression	Biological Process		140
GO:0008380	RNA splicing	Biological Process		65
GO:0008270	zinc ion binding	Molecular Function		323
GO:0006406	mRNA export from nucleus	Biological Process		12

Gene related KEGG pathways (count: 2)

ID	Name	No. of Genes in ADHDgene	Brief Description
hsa03040	Spliceosome	47	After transcription, eukaryotic mRNA precursors contain prot...... After transcription, eukaryotic mRNA precursors contain protein-coding exons and noncoding introns. In the following splicing, introns are excised and exons are joined by a macromolecular complex, the spliceosome. The standard spliceosome is made up of five small nuclear ribonucleoproteins (snRNPs), U1, U2, U4, U5, and U6 snRNPs, and several spliceosome-associated proteins (SAPs). Spliceosomes are not a simple stable complex, but a dynamic family of particles that assemble on the mRNA precursor and help fold it into a conformation that allows transesterification to proceed. Various spliceosome forms (e.g. A-, B- and C-complexes) have been identified. More...
hsa05131	Shigellosis	13	Shigellosis, or bacillary dysentery, is an intestinal infect...... Shigellosis, or bacillary dysentery, is an intestinal infection caused by Shigella, a genus of enterobacteria. Shigella are potential food-borne pathogens that are capable of colonizing the intestinal epithelium by exploiting epithelial-cell functions and circumventing the host innate immune response. During basolateral entry into the host-cell cytoplasm, Shigella deliver a subset of effectors into the host cells through the type III secretion system. The effectors induce membrane ruffling through the stimulation of the Rac1-WAVE-Arp2/3 pathway, enabling bacterial entry into the epithelial cells. During multiplication within the cells, Shigella secrete another subset of effectors. VirG induces actin polymerization at one pole of the bacteria, allowing the bacteria to spread intracellularly and to infect adjacent cells. OspF, OspG and IpaH(9.8) downregulate the production of proinflammatory cytokines such as IL-8, helping bacteria circumvent the innate immune response. More...

Genes shared at least 5 GO terms with U2AF1 (count: 98)

Gene Symbol	Pathway Count	Pathway List
U2AF2	13	protein binding; nucleoplasm; spliceosomal complex; transcription from RNA polymerase II promoter; termination of RNA polymerase II transcription; mRNA processing; nucleotide binding; mRNA splicing, via spliceosome; RNA binding; mRNA 3'-end processing; gene expression; RNA splicing; mRNA export from nucleus;
CPSF7	12	protein binding; nucleus; nucleoplasm; transcription from RNA polymerase II promoter; termination of RNA polymerase II transcription; mRNA processing; nucleotide binding; mRNA splicing, via spliceosome; RNA binding; mRNA 3'-end processing; gene expression; RNA splicing;
EFTUD2	12	protein binding; nucleus; nucleoplasm; spliceosomal complex; nucleolus; mRNA processing; mRNA splicing, via spliceosome; catalytic step 2 spliceosome; nuclear speck; Cajal body; gene expression; RNA splicing;
HNRNPA2B1	12	protein binding; nucleus; nucleoplasm; spliceosomal complex; nucleolus; mRNA processing; nucleotide binding; mRNA splicing, via spliceosome; RNA binding; catalytic step 2 spliceosome; gene expression; RNA splicing;
NCBP1	12	protein binding; nucleus; nucleoplasm; transcription from RNA polymerase II promoter; termination of RNA polymerase II transcription; mRNA processing; mRNA splicing, via spliceosome; RNA binding; mRNA 3'-end processing; gene expression; RNA splicing; mRNA export from nucleus;
SF3A3	12	protein binding; nucleus; nucleoplasm; spliceosomal complex; nucleolus; mRNA processing; mRNA splicing, via spliceosome; catalytic step 2 spliceosome; nuclear speck; gene expression; RNA splicing; zinc ion binding;
CPSF3	11	protein binding; nucleoplasm; transcription from RNA polymerase II promoter; termination of RNA polymerase II transcription; mRNA processing; mRNA splicing, via spliceosome; RNA binding; mRNA 3'-end processing; gene expression; RNA splicing; mRNA export from nucleus;
SF3A1	11	protein binding; nucleus; nucleoplasm; spliceosomal complex; nucleolus; mRNA processing; mRNA splicing, via spliceosome; RNA binding; catalytic step 2 spliceosome; gene expression; RNA splicing;
SNRPG	11	protein binding; nucleoplasm; spliceosomal complex; transcription from RNA polymerase II promoter; termination of RNA polymerase II transcription; mRNA processing; mRNA splicing, via spliceosome; RNA binding; catalytic step 2 spliceosome; gene expression; RNA splicing;
HNRNPA1	11	nucleus; nucleoplasm; spliceosomal complex; nucleolus; mRNA processing; nucleotide binding; mRNA splicing, via spliceosome; RNA binding; catalytic step 2 spliceosome; gene expression; RNA splicing;
FUS	10	protein binding; nucleus; nucleoplasm; nucleolus; nucleotide binding; mRNA splicing, via spliceosome; RNA binding; gene expression; RNA splicing; zinc ion binding;
HNRNPH1	10	protein binding; nucleus; nucleoplasm; nucleolus; nucleotide binding; mRNA splicing, via spliceosome; RNA binding; catalytic step 2 spliceosome; gene expression; RNA splicing;
PRPF4	10	protein binding; nucleus; nucleoplasm; spliceosomal complex; nucleolus; mRNA splicing, via spliceosome; nuclear speck; Cajal body; gene expression; RNA splicing;
PRPF6	10	protein binding; nucleus; nucleoplasm; spliceosomal complex; mRNA splicing, via spliceosome; RNA binding; catalytic step 2 spliceosome; nuclear speck; gene expression; RNA splicing;
PRPF8	10	protein binding; nucleoplasm; spliceosomal complex; mRNA processing; mRNA splicing, via spliceosome; RNA binding; catalytic step 2 spliceosome; nuclear speck; gene expression; RNA splicing;
RBM4	10	protein binding; nucleus; nucleoplasm; nucleolus; mRNA processing; nucleotide binding; RNA binding; nuclear speck; RNA splicing; zinc ion binding;
SNRPB	10	protein binding; nucleoplasm; spliceosomal complex; transcription from RNA polymerase II promoter; termination of RNA polymerase II transcription; mRNA processing; mRNA splicing, via spliceosome; catalytic step 2 spliceosome; gene expression; RNA splicing;
SNRPD3	10	protein binding; nucleoplasm; spliceosomal complex; transcription from RNA polymerase II promoter; termination of RNA polymerase II transcription; mRNA processing; mRNA splicing, via spliceosome; catalytic step 2 spliceosome; gene expression; RNA splicing;
CDC40	10	nucleoplasm; spliceosomal complex; transcription from RNA polymerase II promoter; termination of RNA polymerase II transcription; mRNA splicing, via spliceosome; catalytic step 2 spliceosome; mRNA 3'-end processing; gene expression; RNA splicing; mRNA export from nucleus;
SNRPF	10	nucleoplasm; spliceosomal complex; transcription from RNA polymerase II promoter; termination of RNA polymerase II transcription; mRNA processing; mRNA splicing, via spliceosome; RNA binding; catalytic step 2 spliceosome; gene expression; RNA splicing;
DDX23	9	protein binding; nucleus; nucleoplasm; spliceosomal complex; nucleolus; mRNA splicing, via spliceosome; catalytic step 2 spliceosome; gene expression; RNA splicing;
HNRNPC	9	protein binding; nucleoplasm; spliceosomal complex; nucleotide binding; mRNA splicing, via spliceosome; RNA binding; catalytic step 2 spliceosome; gene expression; RNA splicing;
SF3B4	9	protein binding; nucleoplasm; spliceosomal complex; mRNA processing; nucleotide binding; mRNA splicing, via spliceosome; RNA binding; gene expression; RNA splicing;
SNRNP200	9	protein binding; nucleus; nucleoplasm; spliceosomal complex; nucleolus; mRNA splicing, via spliceosome; catalytic step 2 spliceosome; gene expression; RNA splicing;
SNRPB2	9	protein binding; nucleoplasm; spliceosomal complex; mRNA processing; nucleotide binding; mRNA splicing, via spliceosome; catalytic step 2 spliceosome; gene expression; RNA splicing;
SF3B2	9	nucleus; nucleoplasm; spliceosomal complex; nucleolus; mRNA processing; mRNA splicing, via spliceosome; catalytic step 2 spliceosome; gene expression; RNA splicing;
DHX8	8	protein binding; nucleus; spliceosomal complex; nucleolus; mRNA splicing, via spliceosome; RNA binding; catalytic step 2 spliceosome; RNA splicing;
SMNDC1	8	protein binding; nucleus; spliceosomal complex; mRNA processing; RNA binding; nuclear speck; Cajal body; RNA splicing;
SNRPA	8	protein binding; nucleoplasm; spliceosomal complex; nucleotide binding; mRNA splicing, via spliceosome; RNA binding; gene expression; RNA splicing;
SNRPA1	8	protein binding; nucleoplasm; spliceosomal complex; mRNA splicing, via spliceosome; RNA binding; catalytic step 2 spliceosome; gene expression; RNA splicing;
SNRPD1	8	protein binding; nucleus; nucleoplasm; mRNA splicing, via spliceosome; RNA binding; catalytic step 2 spliceosome; gene expression; RNA splicing;
SNW1	8	protein binding; nucleus; nucleoplasm; spliceosomal complex; nucleolus; mRNA splicing, via spliceosome; catalytic step 2 spliceosome; gene expression;
TARDBP	8	protein binding; nucleus; nucleolus; transcription from RNA polymerase II promoter; mRNA processing; nucleotide binding; RNA binding; RNA splicing;
CLP1	8	nucleoplasm; transcription from RNA polymerase II promoter; termination of RNA polymerase II transcription; mRNA processing; mRNA splicing, via spliceosome; mRNA 3'-end processing; gene expression; RNA splicing;
PCF11	8	nucleoplasm; transcription from RNA polymerase II promoter; termination of RNA polymerase II transcription; mRNA processing; mRNA splicing, via spliceosome; mRNA 3'-end processing; gene expression; RNA splicing;
SF3A2	8	nucleoplasm; spliceosomal complex; mRNA processing; mRNA splicing, via spliceosome; catalytic step 2 spliceosome; gene expression; RNA splicing; zinc ion binding;
CD2BP2	7	protein binding; nucleus; nucleoplasm; mRNA splicing, via spliceosome; nuclear speck; gene expression; RNA splicing;
DHX9	7	protein binding; nucleus; nucleoplasm; nucleolus; mRNA splicing, via spliceosome; gene expression; RNA splicing;
HSPA8	7	protein binding; nucleus; spliceosomal complex; nucleolus; mRNA processing; gene expression; RNA splicing;
LSM11	7	protein binding; nucleus; nucleoplasm; transcription from RNA polymerase II promoter; termination of RNA polymerase II transcription; mRNA processing; gene expression;
SART1	7	protein binding; nucleus; nucleoplasm; nucleolus; mRNA splicing, via spliceosome; catalytic step 2 spliceosome; Cajal body;
SMC1A	7	protein binding; nucleus; nucleoplasm; nucleolus; mRNA splicing, via spliceosome; gene expression; RNA splicing;
SNRPD2	7	protein binding; nucleoplasm; spliceosomal complex; mRNA splicing, via spliceosome; catalytic step 2 spliceosome; gene expression; RNA splicing;
POLR2G	7	nucleus; nucleoplasm; transcription from RNA polymerase II promoter; mRNA splicing, via spliceosome; RNA binding; gene expression; RNA splicing;
SCAF8	7	nucleus; spliceosomal complex; nucleolus; mRNA processing; nucleotide binding; RNA binding; RNA splicing;
SLU7	7	nucleus; spliceosomal complex; nucleolus; mRNA splicing, via spliceosome; catalytic step 2 spliceosome; nuclear speck; zinc ion binding;
SF3B3	7	nucleoplasm; spliceosomal complex; mRNA processing; mRNA splicing, via spliceosome; catalytic step 2 spliceosome; gene expression; RNA splicing;
ZCRB1	7	nucleoplasm; spliceosomal complex; mRNA processing; nucleotide binding; RNA binding; RNA splicing; zinc ion binding;
CDK12	6	protein binding; nucleus; nucleolus; mRNA processing; nuclear speck; RNA splicing;
CWC15	6	protein binding; nucleus; spliceosomal complex; mRNA splicing, via spliceosome; RNA binding; catalytic step 2 spliceosome;
HINFP	6	protein binding; nucleus; nucleoplasm; nucleolus; Cajal body; zinc ion binding;
LSM4	6	protein binding; spliceosomal complex; mRNA processing; RNA binding; gene expression; RNA splicing;
MAML1	6	protein binding; nucleus; nucleoplasm; nucleolus; nuclear speck; gene expression;
MED4	6	protein binding; nucleus; nucleoplasm; nucleolus; transcription from RNA polymerase II promoter; gene expression;
NXF1	6	protein binding; nucleoplasm; nucleotide binding; nuclear speck; gene expression; mRNA export from nucleus;
PGR	6	protein binding; nucleus; nucleoplasm; nucleolus; gene expression; zinc ion binding;
PSPC1	6	protein binding; nucleus; nucleolus; nucleotide binding; RNA binding; nuclear speck;
RBFOX1	6	protein binding; nucleus; mRNA processing; nucleotide binding; RNA binding; RNA splicing;
RFWD2	6	protein binding; nucleus; nucleoplasm; nucleolus; nuclear speck; zinc ion binding;
SETD1A	6	protein binding; nucleus; nucleolus; nucleotide binding; RNA binding; nuclear speck;
SSRP1	6	protein binding; nucleus; nucleoplasm; nucleolus; transcription from RNA polymerase II promoter; gene expression;
TAF13	6	protein binding; nucleus; nucleoplasm; nucleolus; transcription from RNA polymerase II promoter; gene expression;
TXNL4A	6	protein binding; nucleoplasm; spliceosomal complex; mRNA splicing, via spliceosome; gene expression; RNA splicing;
XPO1	6	protein binding; nucleoplasm; nucleolus; RNA binding; Cajal body; gene expression;
ZRSR2	6	protein binding; spliceosomal complex; nucleotide binding; mRNA splicing, via spliceosome; RNA splicing; zinc ion binding;
SF1	6	nucleus; spliceosomal complex; nucleolus; mRNA splicing, via spliceosome; RNA binding; zinc ion binding;
ZMAT5	6	nucleus; spliceosomal complex; nucleolus; mRNA processing; RNA splicing; zinc ion binding;
PHF5A	6	nucleoplasm; spliceosomal complex; mRNA splicing, via spliceosome; nuclear speck; gene expression; RNA splicing;
RBM4B	6	nucleolus; mRNA processing; nucleotide binding; RNA binding; RNA splicing; zinc ion binding;
BCAS2	5	protein binding; spliceosomal complex; nucleolus; mRNA processing; RNA splicing;
CELF1	5	protein binding; nucleus; mRNA processing; nucleotide binding; RNA binding;
DGCR8	5	protein binding; nucleus; nucleoplasm; nucleolus; gene expression;
ESRRA	5	protein binding; nucleus; nucleoplasm; gene expression; zinc ion binding;
GATA6	5	protein binding; nucleus; nucleoplasm; transcription from RNA polymerase II promoter; zinc ion binding;
MAPK3	5	protein binding; nucleus; nucleoplasm; nucleolus; gene expression;
MAZ	5	protein binding; nucleus; termination of RNA polymerase II transcription; RNA binding; zinc ion binding;
MED1	5	protein binding; nucleus; nucleoplasm; nucleolus; gene expression;
MEN1	5	protein binding; nucleus; nucleoplasm; nucleolus; gene expression;
NCOR1	5	protein binding; nucleus; nucleoplasm; transcription from RNA polymerase II promoter; gene expression;
NCOR2	5	protein binding; nucleus; nucleoplasm; nucleolus; gene expression;
NOL8	5	protein binding; nucleus; nucleolus; nucleotide binding; RNA binding;
NR4A2	5	protein binding; nucleus; nucleoplasm; gene expression; zinc ion binding;
NR5A1	5	protein binding; nucleus; nucleoplasm; gene expression; zinc ion binding;
NSRP1	5	protein binding; nucleus; mRNA processing; nuclear speck; RNA splicing;
PRPF19	5	protein binding; nucleus; mRNA splicing, via spliceosome; catalytic step 2 spliceosome; nuclear speck;
RBM14	5	protein binding; nucleus; nucleolus; nucleotide binding; RNA binding;
RBPJ	5	protein binding; nucleus; nucleoplasm; nucleolus; gene expression;
RCHY1	5	protein binding; nucleus; nucleolus; nuclear speck; zinc ion binding;
SNRPC	5	protein binding; spliceosomal complex; mRNA splicing, via spliceosome; Cajal body; zinc ion binding;
TAF10	5	protein binding; nucleus; nucleoplasm; transcription from RNA polymerase II promoter; gene expression;
THRAP3	5	protein binding; nucleus; nucleolus; mRNA processing; RNA splicing;
TUT1	5	protein binding; nucleolus; RNA binding; nuclear speck; zinc ion binding;
ZFR	5	protein binding; nucleus; nucleolus; RNA binding; zinc ion binding;
DHX15	5	nucleus; spliceosomal complex; nucleolus; mRNA processing; RNA splicing;
PRPF18	5	nucleus; spliceosomal complex; mRNA processing; nuclear speck; RNA splicing;
SNRNP35	5	nucleus; mRNA processing; nucleotide binding; RNA binding; RNA splicing;
SRSF8	5	nucleus; mRNA processing; nucleotide binding; RNA binding; RNA splicing;
TAF4B	5	nucleus; nucleoplasm; nucleolus; transcription from RNA polymerase II promoter; gene expression;

Genes shared at least 2 KEGG pathways with U2AF1 (count: 0)

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Region: chr21:44513066..44527697 View in gBrowse