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	EFTUD2
Symbol Alias	U5-116KD, Snrp116, Snu114
Approved Name	elongation factor Tu GTP binding domain containing 2
Name Alias	U5 snRNP specific protein, 116 kD
Location	17q21.31
Position	chr17:42927655-42976993, -
External Links	HGNC: 30858 Entrez Gene: 9343 Ensembl: ENSG00000108883 UCSC: uc002ihn.2
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: 16)

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	TAS[9233818]	51

GO terms by database search (count: 15)

ID	Name	Type	Evidence[PMID]	No. of Genes in ADHDgene
GO:0005525	GTP binding	Molecular Function		53
GO:0005515	protein binding	Molecular Function	IPI[17314511]	910
GO:0005654	nucleoplasm	Cellular Component		183
GO:0005634	nucleus	Cellular Component		770
GO:0005730	nucleolus	Cellular Component		243
GO:0006184	GTP catabolic process	Biological Process	TAS[9233818]	22
GO:0005737	cytoplasm	Cellular Component		690
GO:0003924	GTPase activity	Molecular Function		41
GO:0000398	mRNA splicing, via spliceosome	Biological Process	IC[11991638]	54
GO:0010467	gene expression	Biological Process		140
GO:0015030	Cajal body	Cellular Component	IDA[15257298]	11
GO:0006397	mRNA processing	Biological Process	TAS[9233818]	50
GO:0008380	RNA splicing	Biological Process		65
GO:0016607	nuclear speck	Cellular Component	IDA[15257298]	34
GO:0071013	catalytic step 2 spliceosome	Cellular Component	IDA[11991638]	31

Gene related KEGG pathways (count: 1)

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...

Genes shared at least 5 GO terms with EFTUD2 (count: 98)

Gene Symbol	Pathway Count	Pathway List
U2AF1	12	protein binding; nucleoplasm; nucleus; nucleolus; spliceosomal complex; mRNA splicing, via spliceosome; gene expression; Cajal body; mRNA processing; RNA splicing; nuclear speck; catalytic step 2 spliceosome;
HNRNPA2B1	11	protein binding; nucleoplasm; nucleus; nucleolus; spliceosomal complex; cytoplasm; mRNA splicing, via spliceosome; gene expression; mRNA processing; RNA splicing; catalytic step 2 spliceosome;
SF3A3	11	protein binding; nucleoplasm; nucleus; nucleolus; spliceosomal complex; mRNA splicing, via spliceosome; gene expression; mRNA processing; RNA splicing; nuclear speck; catalytic step 2 spliceosome;
PRPF4	10	protein binding; nucleoplasm; nucleus; nucleolus; spliceosomal complex; mRNA splicing, via spliceosome; gene expression; Cajal body; RNA splicing; nuclear speck;
SF3A1	10	protein binding; nucleoplasm; nucleus; nucleolus; spliceosomal complex; mRNA splicing, via spliceosome; gene expression; mRNA processing; RNA splicing; catalytic step 2 spliceosome;
HNRNPA1	10	nucleoplasm; nucleus; nucleolus; spliceosomal complex; cytoplasm; mRNA splicing, via spliceosome; gene expression; mRNA processing; RNA splicing; catalytic step 2 spliceosome;
DDX23	9	protein binding; nucleoplasm; nucleus; nucleolus; spliceosomal complex; mRNA splicing, via spliceosome; gene expression; RNA splicing; catalytic step 2 spliceosome;
HNRNPH1	9	protein binding; nucleoplasm; nucleus; nucleolus; cytoplasm; mRNA splicing, via spliceosome; gene expression; RNA splicing; catalytic step 2 spliceosome;
PRPF6	9	protein binding; nucleoplasm; nucleus; spliceosomal complex; mRNA splicing, via spliceosome; gene expression; RNA splicing; nuclear speck; catalytic step 2 spliceosome;
PRPF8	9	protein binding; nucleoplasm; spliceosomal complex; mRNA splicing, via spliceosome; gene expression; mRNA processing; RNA splicing; nuclear speck; catalytic step 2 spliceosome;
SNRNP200	9	protein binding; nucleoplasm; nucleus; nucleolus; spliceosomal complex; mRNA splicing, via spliceosome; gene expression; RNA splicing; catalytic step 2 spliceosome;
SF3B2	9	nucleoplasm; nucleus; nucleolus; spliceosomal complex; mRNA splicing, via spliceosome; gene expression; mRNA processing; RNA splicing; catalytic step 2 spliceosome;
CD2BP2	8	protein binding; nucleoplasm; nucleus; cytoplasm; mRNA splicing, via spliceosome; gene expression; RNA splicing; nuclear speck;
DHX9	8	protein binding; nucleoplasm; nucleus; nucleolus; cytoplasm; mRNA splicing, via spliceosome; gene expression; RNA splicing;
FUS	8	protein binding; nucleoplasm; nucleus; nucleolus; cytoplasm; mRNA splicing, via spliceosome; gene expression; RNA splicing;
RBM4	8	protein binding; nucleoplasm; nucleus; nucleolus; cytoplasm; mRNA processing; RNA splicing; nuclear speck;
SART1	8	protein binding; nucleoplasm; nucleus; nucleolus; cytoplasm; mRNA splicing, via spliceosome; Cajal body; catalytic step 2 spliceosome;
SMC1A	8	protein binding; nucleoplasm; nucleus; nucleolus; cytoplasm; mRNA splicing, via spliceosome; gene expression; RNA splicing;
SMNDC1	8	protein binding; nucleus; spliceosomal complex; cytoplasm; Cajal body; mRNA processing; RNA splicing; nuclear speck;
SNRPB	8	protein binding; nucleoplasm; spliceosomal complex; mRNA splicing, via spliceosome; gene expression; mRNA processing; RNA splicing; catalytic step 2 spliceosome;
SNRPB2	8	protein binding; nucleoplasm; spliceosomal complex; mRNA splicing, via spliceosome; gene expression; mRNA processing; RNA splicing; catalytic step 2 spliceosome;
SNRPD3	8	protein binding; nucleoplasm; spliceosomal complex; mRNA splicing, via spliceosome; gene expression; mRNA processing; RNA splicing; catalytic step 2 spliceosome;
SNRPG	8	protein binding; nucleoplasm; spliceosomal complex; mRNA splicing, via spliceosome; gene expression; mRNA processing; RNA splicing; catalytic step 2 spliceosome;
SNW1	8	protein binding; nucleoplasm; nucleus; nucleolus; spliceosomal complex; mRNA splicing, via spliceosome; gene expression; catalytic step 2 spliceosome;
CPSF7	7	protein binding; nucleoplasm; nucleus; mRNA splicing, via spliceosome; gene expression; mRNA processing; RNA splicing;
DHX8	7	protein binding; nucleus; nucleolus; spliceosomal complex; mRNA splicing, via spliceosome; RNA splicing; catalytic step 2 spliceosome;
HNRNPC	7	protein binding; nucleoplasm; spliceosomal complex; mRNA splicing, via spliceosome; gene expression; RNA splicing; catalytic step 2 spliceosome;
HSPA8	7	protein binding; nucleus; nucleolus; spliceosomal complex; gene expression; mRNA processing; RNA splicing;
NCBP1	7	protein binding; nucleoplasm; nucleus; mRNA splicing, via spliceosome; gene expression; mRNA processing; RNA splicing;
SF3B4	7	protein binding; nucleoplasm; spliceosomal complex; mRNA splicing, via spliceosome; gene expression; mRNA processing; RNA splicing;
SNRPA1	7	protein binding; nucleoplasm; spliceosomal complex; mRNA splicing, via spliceosome; gene expression; RNA splicing; catalytic step 2 spliceosome;
SNRPD1	7	protein binding; nucleoplasm; nucleus; mRNA splicing, via spliceosome; gene expression; RNA splicing; catalytic step 2 spliceosome;
SNRPD2	7	protein binding; nucleoplasm; spliceosomal complex; mRNA splicing, via spliceosome; gene expression; RNA splicing; catalytic step 2 spliceosome;
U2AF2	7	protein binding; nucleoplasm; spliceosomal complex; mRNA splicing, via spliceosome; gene expression; mRNA processing; RNA splicing;
SF3A2	7	nucleoplasm; spliceosomal complex; mRNA splicing, via spliceosome; gene expression; mRNA processing; RNA splicing; catalytic step 2 spliceosome;
SF3B3	7	nucleoplasm; spliceosomal complex; mRNA splicing, via spliceosome; gene expression; mRNA processing; RNA splicing; catalytic step 2 spliceosome;
SNRPF	7	nucleoplasm; spliceosomal complex; mRNA splicing, via spliceosome; gene expression; mRNA processing; RNA splicing; catalytic step 2 spliceosome;
SLU7	7	nucleus; nucleolus; spliceosomal complex; cytoplasm; mRNA splicing, via spliceosome; nuclear speck; catalytic step 2 spliceosome;
RAN	6	GTP binding; protein binding; nucleoplasm; cytoplasm; GTPase activity; gene expression;
CDK12	6	protein binding; nucleus; nucleolus; mRNA processing; RNA splicing; nuclear speck;
CPSF3	6	protein binding; nucleoplasm; mRNA splicing, via spliceosome; gene expression; mRNA processing; RNA splicing;
DGCR8	6	protein binding; nucleoplasm; nucleus; nucleolus; cytoplasm; gene expression;
MAML1	6	protein binding; nucleoplasm; nucleus; nucleolus; gene expression; nuclear speck;
MEN1	6	protein binding; nucleoplasm; nucleus; nucleolus; cytoplasm; gene expression;
PGR	6	protein binding; nucleoplasm; nucleus; nucleolus; cytoplasm; gene expression;
PRPF19	6	protein binding; nucleus; cytoplasm; mRNA splicing, via spliceosome; nuclear speck; catalytic step 2 spliceosome;
RBPJ	6	protein binding; nucleoplasm; nucleus; nucleolus; cytoplasm; gene expression;
RFWD2	6	protein binding; nucleoplasm; nucleus; nucleolus; cytoplasm; nuclear speck;
SNRPA	6	protein binding; nucleoplasm; spliceosomal complex; mRNA splicing, via spliceosome; gene expression; RNA splicing;
SSRP1	6	protein binding; nucleoplasm; nucleus; nucleolus; cytoplasm; gene expression;
TXNL4A	6	protein binding; nucleoplasm; spliceosomal complex; mRNA splicing, via spliceosome; gene expression; RNA splicing;
XPO1	6	protein binding; nucleoplasm; nucleolus; cytoplasm; gene expression; Cajal body;
CDC40	6	nucleoplasm; spliceosomal complex; mRNA splicing, via spliceosome; gene expression; RNA splicing; catalytic step 2 spliceosome;
PHF5A	6	nucleoplasm; spliceosomal complex; mRNA splicing, via spliceosome; gene expression; RNA splicing; nuclear speck;
ZMAT5	6	nucleus; nucleolus; spliceosomal complex; cytoplasm; mRNA processing; RNA splicing;
ARL2	5	GTP binding; protein binding; nucleus; GTP catabolic process; GTPase activity;
EHD3	5	GTP binding; protein binding; nucleus; cytoplasm; GTPase activity;
MTG1	5	GTP binding; nucleus; nucleolus; GTP catabolic process; GTPase activity;
RAB6C	5	GTP binding; nucleus; GTP catabolic process; cytoplasm; GTPase activity;
ATXN1	5	protein binding; nucleoplasm; nucleus; nucleolus; cytoplasm;
BCAS2	5	protein binding; nucleolus; spliceosomal complex; mRNA processing; RNA splicing;
CWC15	5	protein binding; nucleus; spliceosomal complex; mRNA splicing, via spliceosome; catalytic step 2 spliceosome;
DCPS	5	protein binding; nucleus; nucleolus; cytoplasm; gene expression;
HINFP	5	protein binding; nucleoplasm; nucleus; nucleolus; Cajal body;
IARS	5	protein binding; nucleus; nucleolus; cytoplasm; gene expression;
LSM11	5	protein binding; nucleoplasm; nucleus; gene expression; mRNA processing;
LSM4	5	protein binding; spliceosomal complex; gene expression; mRNA processing; RNA splicing;
MAPK1	5	protein binding; nucleoplasm; nucleus; nucleolus; cytoplasm;
MAPK3	5	protein binding; nucleoplasm; nucleus; nucleolus; gene expression;
MED1	5	protein binding; nucleoplasm; nucleus; nucleolus; gene expression;
MED4	5	protein binding; nucleoplasm; nucleus; nucleolus; gene expression;
NCOR1	5	protein binding; nucleoplasm; nucleus; cytoplasm; gene expression;
NCOR2	5	protein binding; nucleoplasm; nucleus; nucleolus; gene expression;
NEDD4L	5	protein binding; nucleoplasm; nucleus; cytoplasm; gene expression;
NR4A2	5	protein binding; nucleoplasm; nucleus; cytoplasm; gene expression;
NSRP1	5	protein binding; nucleus; mRNA processing; RNA splicing; nuclear speck;
NUMA1	5	protein binding; nucleoplasm; nucleus; nucleolus; cytoplasm;
PPIH	5	protein binding; spliceosomal complex; cytoplasm; mRNA splicing, via spliceosome; nuclear speck;
PSMC3	5	protein binding; nucleoplasm; nucleus; cytoplasm; gene expression;
PSPC1	5	protein binding; nucleus; nucleolus; cytoplasm; nuclear speck;
RAD23B	5	protein binding; nucleoplasm; nucleus; nucleolus; cytoplasm;
RAD9A	5	protein binding; nucleoplasm; nucleus; nucleolus; cytoplasm;
RBFOX1	5	protein binding; nucleus; cytoplasm; mRNA processing; RNA splicing;
RCC1	5	protein binding; nucleoplasm; nucleus; nucleolus; cytoplasm;
RCHY1	5	protein binding; nucleus; nucleolus; cytoplasm; nuclear speck;
TAF10	5	protein binding; nucleoplasm; nucleus; cytoplasm; gene expression;
TAF13	5	protein binding; nucleoplasm; nucleus; nucleolus; gene expression;
TARDBP	5	protein binding; nucleus; nucleolus; mRNA processing; RNA splicing;
THRAP3	5	protein binding; nucleus; nucleolus; mRNA processing; RNA splicing;
XRCC5	5	protein binding; nucleoplasm; nucleus; nucleolus; cytoplasm;
YAP1	5	protein binding; nucleoplasm; nucleus; cytoplasm; gene expression;
CLP1	5	nucleoplasm; mRNA splicing, via spliceosome; gene expression; mRNA processing; RNA splicing;
PCF11	5	nucleoplasm; mRNA splicing, via spliceosome; gene expression; mRNA processing; RNA splicing;
POLR2G	5	nucleoplasm; nucleus; mRNA splicing, via spliceosome; gene expression; RNA splicing;
TAF4B	5	nucleoplasm; nucleus; nucleolus; cytoplasm; gene expression;
DHX15	5	nucleus; nucleolus; spliceosomal complex; mRNA processing; RNA splicing;
PRPF18	5	nucleus; spliceosomal complex; mRNA processing; RNA splicing; nuclear speck;
SCAF8	5	nucleus; nucleolus; spliceosomal complex; mRNA processing; RNA splicing;

Genes shared at least 2 KEGG pathways with EFTUD2 (count: 0)

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Region: chr17:42927655..42976993 View in gBrowse