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	SF3A1
Symbol Alias	SF3a120, SAP114, PRPF21, Prp21
Approved Name	splicing factor 3a, subunit 1, 120kDa
Previous Name	splicing factor 3a, subunit 1, 120kD
Location	22q12.2
Position	chr22:30727977-30752936, -
External Links	HGNC: 10765 Entrez Gene: 10291 Ensembl: ENSG00000099995 UCSC: uc003ahl.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: 13)

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: 12)

ID	Name	Type	Evidence[PMID]	No. of Genes in ADHDgene
GO:0006397	mRNA processing	Biological Process	IMP[15647371]	50
GO:0005730	nucleolus	Cellular Component		243
GO:0010467	gene expression	Biological Process		140
GO:0008380	RNA splicing	Biological Process		65
GO:0071013	catalytic step 2 spliceosome	Cellular Component	IDA[11991638]	31
GO:0000398	mRNA splicing, via spliceosome	Biological Process	IC[9731529]; IDA[10882114]	54
GO:0000389	mRNA 3'-splice site recognition	Biological Process	TAS[15647371]	5
GO:0005515	protein binding	Molecular Function		910
GO:0003723	RNA binding	Molecular Function	IDA[10882114]	104
GO:0005654	nucleoplasm	Cellular Component		183
GO:0005634	nucleus	Cellular Component		770
GO:0005684	U2-type spliceosomal complex	Cellular Component	IDA[10882114]	1

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 SF3A1 (count: 71)

Gene Symbol	Pathway Count	Pathway List
HNRNPA2B1	11	mRNA processing; nucleolus; gene expression; RNA splicing; catalytic step 2 spliceosome; mRNA splicing, via spliceosome; protein binding; RNA binding; nucleoplasm; nucleus; spliceosomal complex;
SF3A3	11	mRNA processing; nucleolus; gene expression; RNA splicing; catalytic step 2 spliceosome; mRNA splicing, via spliceosome; mRNA 3'-splice site recognition; protein binding; nucleoplasm; nucleus; spliceosomal complex;
U2AF1	11	mRNA processing; nucleolus; gene expression; RNA splicing; catalytic step 2 spliceosome; mRNA splicing, via spliceosome; protein binding; RNA binding; nucleoplasm; nucleus; spliceosomal complex;
EFTUD2	10	mRNA processing; nucleolus; gene expression; RNA splicing; catalytic step 2 spliceosome; mRNA splicing, via spliceosome; protein binding; nucleoplasm; nucleus; spliceosomal complex;
HNRNPA1	10	mRNA processing; nucleolus; gene expression; RNA splicing; catalytic step 2 spliceosome; mRNA splicing, via spliceosome; RNA binding; nucleoplasm; nucleus; spliceosomal complex;
PRPF8	9	mRNA processing; gene expression; RNA splicing; catalytic step 2 spliceosome; mRNA splicing, via spliceosome; protein binding; RNA binding; nucleoplasm; spliceosomal complex;
SF3B2	9	mRNA processing; nucleolus; gene expression; RNA splicing; catalytic step 2 spliceosome; mRNA splicing, via spliceosome; nucleoplasm; nucleus; spliceosomal complex;
SNRPG	9	mRNA processing; gene expression; RNA splicing; catalytic step 2 spliceosome; mRNA splicing, via spliceosome; protein binding; RNA binding; nucleoplasm; spliceosomal complex;
DDX23	9	nucleolus; gene expression; RNA splicing; catalytic step 2 spliceosome; mRNA splicing, via spliceosome; protein binding; nucleoplasm; nucleus; spliceosomal complex;
HNRNPH1	9	nucleolus; gene expression; RNA splicing; catalytic step 2 spliceosome; mRNA splicing, via spliceosome; protein binding; RNA binding; nucleoplasm; nucleus;
SNRNP200	9	nucleolus; gene expression; RNA splicing; catalytic step 2 spliceosome; mRNA splicing, via spliceosome; protein binding; nucleoplasm; nucleus; spliceosomal complex;
PRPF6	9	gene expression; RNA splicing; catalytic step 2 spliceosome; mRNA splicing, via spliceosome; protein binding; RNA binding; nucleoplasm; nucleus; spliceosomal complex;
CPSF7	8	mRNA processing; gene expression; RNA splicing; mRNA splicing, via spliceosome; protein binding; RNA binding; nucleoplasm; nucleus;
NCBP1	8	mRNA processing; gene expression; RNA splicing; mRNA splicing, via spliceosome; protein binding; RNA binding; nucleoplasm; nucleus;
SF3A2	8	mRNA processing; gene expression; RNA splicing; catalytic step 2 spliceosome; mRNA splicing, via spliceosome; mRNA 3'-splice site recognition; nucleoplasm; spliceosomal complex;
SF3B4	8	mRNA processing; gene expression; RNA splicing; mRNA splicing, via spliceosome; protein binding; RNA binding; nucleoplasm; spliceosomal complex;
SNRPB	8	mRNA processing; gene expression; RNA splicing; catalytic step 2 spliceosome; mRNA splicing, via spliceosome; protein binding; nucleoplasm; spliceosomal complex;
SNRPB2	8	mRNA processing; gene expression; RNA splicing; catalytic step 2 spliceosome; mRNA splicing, via spliceosome; protein binding; nucleoplasm; spliceosomal complex;
SNRPD3	8	mRNA processing; gene expression; RNA splicing; catalytic step 2 spliceosome; mRNA splicing, via spliceosome; protein binding; nucleoplasm; spliceosomal complex;
SNRPF	8	mRNA processing; gene expression; RNA splicing; catalytic step 2 spliceosome; mRNA splicing, via spliceosome; RNA binding; nucleoplasm; spliceosomal complex;
U2AF2	8	mRNA processing; gene expression; RNA splicing; mRNA splicing, via spliceosome; protein binding; RNA binding; nucleoplasm; spliceosomal complex;
DHX8	8	nucleolus; RNA splicing; catalytic step 2 spliceosome; mRNA splicing, via spliceosome; protein binding; RNA binding; nucleus; spliceosomal complex;
FUS	8	nucleolus; gene expression; RNA splicing; mRNA splicing, via spliceosome; protein binding; RNA binding; nucleoplasm; nucleus;
PRPF4	8	nucleolus; gene expression; RNA splicing; mRNA splicing, via spliceosome; protein binding; nucleoplasm; nucleus; spliceosomal complex;
SNW1	8	nucleolus; gene expression; catalytic step 2 spliceosome; mRNA splicing, via spliceosome; protein binding; nucleoplasm; nucleus; spliceosomal complex;
HNRNPC	8	gene expression; RNA splicing; catalytic step 2 spliceosome; mRNA splicing, via spliceosome; protein binding; RNA binding; nucleoplasm; spliceosomal complex;
SNRPA1	8	gene expression; RNA splicing; catalytic step 2 spliceosome; mRNA splicing, via spliceosome; protein binding; RNA binding; nucleoplasm; spliceosomal complex;
SNRPD1	8	gene expression; RNA splicing; catalytic step 2 spliceosome; mRNA splicing, via spliceosome; protein binding; RNA binding; nucleoplasm; nucleus;
CPSF3	7	mRNA processing; gene expression; RNA splicing; mRNA splicing, via spliceosome; protein binding; RNA binding; nucleoplasm;
HSPA8	7	mRNA processing; nucleolus; gene expression; RNA splicing; protein binding; nucleus; spliceosomal complex;
RBM4	7	mRNA processing; nucleolus; RNA splicing; protein binding; RNA binding; nucleoplasm; nucleus;
SF3B3	7	mRNA processing; gene expression; RNA splicing; catalytic step 2 spliceosome; mRNA splicing, via spliceosome; nucleoplasm; spliceosomal complex;
DHX9	7	nucleolus; gene expression; RNA splicing; mRNA splicing, via spliceosome; protein binding; nucleoplasm; nucleus;
SMC1A	7	nucleolus; gene expression; RNA splicing; mRNA splicing, via spliceosome; protein binding; nucleoplasm; nucleus;
SNRPA	7	gene expression; RNA splicing; mRNA splicing, via spliceosome; protein binding; RNA binding; nucleoplasm; spliceosomal complex;
SNRPD2	7	gene expression; RNA splicing; catalytic step 2 spliceosome; mRNA splicing, via spliceosome; protein binding; nucleoplasm; spliceosomal complex;
LSM4	6	mRNA processing; gene expression; RNA splicing; protein binding; RNA binding; spliceosomal complex;
SCAF8	6	mRNA processing; nucleolus; RNA splicing; RNA binding; nucleus; spliceosomal complex;
SMNDC1	6	mRNA processing; RNA splicing; protein binding; RNA binding; nucleus; spliceosomal complex;
TARDBP	6	mRNA processing; nucleolus; RNA splicing; protein binding; RNA binding; nucleus;
SART1	6	nucleolus; catalytic step 2 spliceosome; mRNA splicing, via spliceosome; protein binding; nucleoplasm; nucleus;
SF1	6	nucleolus; mRNA splicing, via spliceosome; mRNA 3'-splice site recognition; RNA binding; nucleus; spliceosomal complex;
SLU7	6	nucleolus; catalytic step 2 spliceosome; mRNA splicing, via spliceosome; mRNA 3'-splice site recognition; nucleus; spliceosomal complex;
CD2BP2	6	gene expression; RNA splicing; mRNA splicing, via spliceosome; protein binding; nucleoplasm; nucleus;
CDC40	6	gene expression; RNA splicing; catalytic step 2 spliceosome; mRNA splicing, via spliceosome; nucleoplasm; spliceosomal complex;
POLR2G	6	gene expression; RNA splicing; mRNA splicing, via spliceosome; RNA binding; nucleoplasm; nucleus;
TXNL4A	6	gene expression; RNA splicing; mRNA splicing, via spliceosome; protein binding; nucleoplasm; spliceosomal complex;
CWC15	6	catalytic step 2 spliceosome; mRNA splicing, via spliceosome; protein binding; RNA binding; nucleus; spliceosomal complex;
BCAS2	5	mRNA processing; nucleolus; RNA splicing; protein binding; spliceosomal complex;
CDK12	5	mRNA processing; nucleolus; RNA splicing; protein binding; nucleus;
CLP1	5	mRNA processing; gene expression; RNA splicing; mRNA splicing, via spliceosome; nucleoplasm;
DHX15	5	mRNA processing; nucleolus; RNA splicing; nucleus; spliceosomal complex;
LSM11	5	mRNA processing; gene expression; protein binding; nucleoplasm; nucleus;
PCF11	5	mRNA processing; gene expression; RNA splicing; mRNA splicing, via spliceosome; nucleoplasm;
RBFOX1	5	mRNA processing; RNA splicing; protein binding; RNA binding; nucleus;
THRAP3	5	mRNA processing; nucleolus; RNA splicing; protein binding; nucleus;
ZCRB1	5	mRNA processing; RNA splicing; RNA binding; nucleoplasm; spliceosomal complex;
ZMAT5	5	mRNA processing; nucleolus; RNA splicing; nucleus; spliceosomal complex;
DGCR8	5	nucleolus; gene expression; protein binding; nucleoplasm; nucleus;
MAML1	5	nucleolus; gene expression; protein binding; nucleoplasm; nucleus;
MAPK3	5	nucleolus; gene expression; protein binding; nucleoplasm; nucleus;
MED1	5	nucleolus; gene expression; protein binding; nucleoplasm; nucleus;
MED4	5	nucleolus; gene expression; protein binding; nucleoplasm; nucleus;
MEN1	5	nucleolus; gene expression; protein binding; nucleoplasm; nucleus;
NCOR2	5	nucleolus; gene expression; protein binding; nucleoplasm; nucleus;
PGR	5	nucleolus; gene expression; protein binding; nucleoplasm; nucleus;
RBPJ	5	nucleolus; gene expression; protein binding; nucleoplasm; nucleus;
SSRP1	5	nucleolus; gene expression; protein binding; nucleoplasm; nucleus;
TAF13	5	nucleolus; gene expression; protein binding; nucleoplasm; nucleus;
XPO1	5	nucleolus; gene expression; protein binding; RNA binding; nucleoplasm;
PHF5A	5	gene expression; RNA splicing; mRNA splicing, via spliceosome; nucleoplasm; spliceosomal complex;

Genes shared at least 2 KEGG pathways with SF3A1 (count: 0)

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Region: chr22:30727977..30752936 View in gBrowse