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	SNRPD3
Symbol Alias	SMD3, Sm-D3
Approved Name	small nuclear ribonucleoprotein D3 polypeptide 18kDa
Previous Name	small nuclear ribonucleoprotein D3 polypeptide (18kD)
Location	22q11.23
Position	chr22:24951471-25006498, +
External Links	HGNC: 11160 Entrez Gene: 6634 Ensembl: ENSG00000100028 UCSC: uc003aam.1
No. of Studies	0 (significant: 0; non-significant: 0; trend: 0)
Source	Mapped by CNV; Mapped by PBA pathway

Gene related studies (count: 0)

Gene related SNPs (count: 0)

Gene related CNVs (count: 1)

ID	Location	Size	Band	Type	Inheritance
CNV_Williams[2010]_37	chr22:22020325-23326630 (NCBI Build 36.1 (hg18))	1306306	22q11.23	Gain

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	TAS[7527560]	51

GO terms by database search (count: 19)

ID	Name	Type	Evidence[PMID]	No. of Genes in ADHDgene
GO:0006366	transcription from RNA polymerase II promoter	Biological Process		62
GO:0006369	termination of RNA polymerase II transcription	Biological Process		14
GO:0005689	U12-type spliceosomal complex	Cellular Component	IDA[15146077]	16
GO:0005829	cytosol	Cellular Component		447
GO:0008380	RNA splicing	Biological Process		65
GO:0010467	gene expression	Biological Process		140
GO:0006397	mRNA processing	Biological Process		50
GO:0008334	histone mRNA metabolic process	Biological Process		6
GO:0000387	spliceosomal snRNP assembly	Biological Process		10
GO:0000398	mRNA splicing, via spliceosome	Biological Process	IC[11991638]	54
GO:0005683	U7 snRNP	Cellular Component	IDA[11574479]	5
GO:0005515	protein binding	Molecular Function		910
GO:0005654	nucleoplasm	Cellular Component		183
GO:0071013	catalytic step 2 spliceosome	Cellular Component	IDA[11991638]	31
GO:0071208	histone pre-mRNA DCP binding	Molecular Function		2
GO:0016070	RNA metabolic process	Biological Process		46
GO:0019899	enzyme binding	Molecular Function	IPI[17709427]	47
GO:0030532	small nuclear ribonucleoprotein complex	Cellular Component	TAS[1701240]	12
GO:0034660	ncRNA metabolic process	Biological Process		8

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...
hsa05322	Systemic lupus erythematosus	19	Systemic lupus erythematosus (SLE) is a prototypic autoimmun...... Systemic lupus erythematosus (SLE) is a prototypic autoimmune disease characterised by the production of IgG autoantibodies that are specific for self-antigens, such as DNA, nuclear proteins and certain cytoplasmic components, in association with a diverse array of clinical manifestations. The primary pathological findings in patients with SLE are those of inflammation, vasculitis, immune complex deposition, and vasculopathy. Immune complexes comprising autoantibody and self-antigen is deposited particulary in the renal glomeruli and mediate a systemic inflammatory response by activating complement or via Fc{gamma}R-mediated neutrophil and macrophage activation. Activation of complement (C5) leads to injury both through formation of the membrane attack complex (C5b-9) or by generation of the anaphylatoxin and cell activator C5a. Neutrophils and macrophages cause tissue injury by the release of oxidants and proteases. More...

Genes shared at least 5 GO terms with SNRPD3 (count: 57)

Gene Symbol	Pathway Count	Pathway List
SNRPB	19	transcription from RNA polymerase II promoter; termination of RNA polymerase II transcription; U12-type spliceosomal complex; cytosol; RNA splicing; gene expression; mRNA processing; histone mRNA metabolic process; spliceosomal snRNP assembly; mRNA splicing, via spliceosome; spliceosomal complex; U7 snRNP; protein binding; nucleoplasm; catalytic step 2 spliceosome; histone pre-mRNA DCP binding; RNA metabolic process; small nuclear ribonucleoprotein complex; ncRNA metabolic process;
SNRPG	18	transcription from RNA polymerase II promoter; termination of RNA polymerase II transcription; U12-type spliceosomal complex; cytosol; RNA splicing; gene expression; mRNA processing; histone mRNA metabolic process; spliceosomal snRNP assembly; mRNA splicing, via spliceosome; spliceosomal complex; U7 snRNP; protein binding; nucleoplasm; catalytic step 2 spliceosome; RNA metabolic process; small nuclear ribonucleoprotein complex; ncRNA metabolic process;
SNRPF	17	transcription from RNA polymerase II promoter; termination of RNA polymerase II transcription; U12-type spliceosomal complex; cytosol; RNA splicing; gene expression; mRNA processing; histone mRNA metabolic process; spliceosomal snRNP assembly; mRNA splicing, via spliceosome; spliceosomal complex; U7 snRNP; nucleoplasm; catalytic step 2 spliceosome; RNA metabolic process; small nuclear ribonucleoprotein complex; ncRNA metabolic process;
NCBP1	13	transcription from RNA polymerase II promoter; termination of RNA polymerase II transcription; cytosol; RNA splicing; gene expression; mRNA processing; histone mRNA metabolic process; spliceosomal snRNP assembly; mRNA splicing, via spliceosome; protein binding; nucleoplasm; RNA metabolic process; ncRNA metabolic process;
SNRPD2	13	U12-type spliceosomal complex; cytosol; RNA splicing; gene expression; spliceosomal snRNP assembly; mRNA splicing, via spliceosome; spliceosomal complex; protein binding; nucleoplasm; catalytic step 2 spliceosome; RNA metabolic process; small nuclear ribonucleoprotein complex; ncRNA metabolic process;
SNRPD1	12	U12-type spliceosomal complex; cytosol; RNA splicing; gene expression; spliceosomal snRNP assembly; mRNA splicing, via spliceosome; protein binding; nucleoplasm; catalytic step 2 spliceosome; RNA metabolic process; small nuclear ribonucleoprotein complex; ncRNA metabolic process;
U2AF1	10	transcription from RNA polymerase II promoter; termination of RNA polymerase II transcription; RNA splicing; gene expression; mRNA processing; mRNA splicing, via spliceosome; spliceosomal complex; protein binding; nucleoplasm; catalytic step 2 spliceosome;
U2AF2	10	transcription from RNA polymerase II promoter; termination of RNA polymerase II transcription; RNA splicing; gene expression; mRNA processing; mRNA splicing, via spliceosome; spliceosomal complex; protein binding; nucleoplasm; enzyme binding;
SF3B3	9	U12-type spliceosomal complex; RNA splicing; gene expression; mRNA processing; mRNA splicing, via spliceosome; spliceosomal complex; nucleoplasm; catalytic step 2 spliceosome; small nuclear ribonucleoprotein complex;
CDC40	8	transcription from RNA polymerase II promoter; termination of RNA polymerase II transcription; RNA splicing; gene expression; mRNA splicing, via spliceosome; spliceosomal complex; nucleoplasm; catalytic step 2 spliceosome;
CPSF3	8	transcription from RNA polymerase II promoter; termination of RNA polymerase II transcription; RNA splicing; gene expression; mRNA processing; mRNA splicing, via spliceosome; protein binding; nucleoplasm;
CPSF7	8	transcription from RNA polymerase II promoter; termination of RNA polymerase II transcription; RNA splicing; gene expression; mRNA processing; mRNA splicing, via spliceosome; protein binding; nucleoplasm;
LSM11	8	transcription from RNA polymerase II promoter; termination of RNA polymerase II transcription; gene expression; mRNA processing; histone mRNA metabolic process; U7 snRNP; protein binding; nucleoplasm;
SF3B2	8	U12-type spliceosomal complex; RNA splicing; gene expression; mRNA processing; mRNA splicing, via spliceosome; spliceosomal complex; nucleoplasm; catalytic step 2 spliceosome;
SF3B4	8	U12-type spliceosomal complex; RNA splicing; gene expression; mRNA processing; mRNA splicing, via spliceosome; spliceosomal complex; protein binding; nucleoplasm;
LSM4	8	cytosol; RNA splicing; gene expression; mRNA processing; spliceosomal complex; protein binding; RNA metabolic process; small nuclear ribonucleoprotein complex;
EFTUD2	8	RNA splicing; gene expression; mRNA processing; mRNA splicing, via spliceosome; spliceosomal complex; protein binding; nucleoplasm; catalytic step 2 spliceosome;
HNRNPA2B1	8	RNA splicing; gene expression; mRNA processing; mRNA splicing, via spliceosome; spliceosomal complex; protein binding; nucleoplasm; catalytic step 2 spliceosome;
PRPF8	8	RNA splicing; gene expression; mRNA processing; mRNA splicing, via spliceosome; spliceosomal complex; protein binding; nucleoplasm; catalytic step 2 spliceosome;
SF3A1	8	RNA splicing; gene expression; mRNA processing; mRNA splicing, via spliceosome; spliceosomal complex; protein binding; nucleoplasm; catalytic step 2 spliceosome;
SF3A2	8	RNA splicing; gene expression; mRNA processing; mRNA splicing, via spliceosome; spliceosomal complex; nucleoplasm; catalytic step 2 spliceosome; small nuclear ribonucleoprotein complex;
SF3A3	8	RNA splicing; gene expression; mRNA processing; mRNA splicing, via spliceosome; spliceosomal complex; protein binding; nucleoplasm; catalytic step 2 spliceosome;
SNRPA1	8	RNA splicing; gene expression; mRNA splicing, via spliceosome; spliceosomal complex; protein binding; nucleoplasm; catalytic step 2 spliceosome; small nuclear ribonucleoprotein complex;
SNRPB2	8	RNA splicing; gene expression; mRNA processing; mRNA splicing, via spliceosome; spliceosomal complex; protein binding; nucleoplasm; catalytic step 2 spliceosome;
CLP1	7	transcription from RNA polymerase II promoter; termination of RNA polymerase II transcription; RNA splicing; gene expression; mRNA processing; mRNA splicing, via spliceosome; nucleoplasm;
PCF11	7	transcription from RNA polymerase II promoter; termination of RNA polymerase II transcription; RNA splicing; gene expression; mRNA processing; mRNA splicing, via spliceosome; nucleoplasm;
HSPA8	7	cytosol; RNA splicing; gene expression; mRNA processing; spliceosomal complex; protein binding; RNA metabolic process;
DDX23	7	RNA splicing; gene expression; mRNA splicing, via spliceosome; spliceosomal complex; protein binding; nucleoplasm; catalytic step 2 spliceosome;
HNRNPA1	7	RNA splicing; gene expression; mRNA processing; mRNA splicing, via spliceosome; spliceosomal complex; nucleoplasm; catalytic step 2 spliceosome;
HNRNPC	7	RNA splicing; gene expression; mRNA splicing, via spliceosome; spliceosomal complex; protein binding; nucleoplasm; catalytic step 2 spliceosome;
PRPF6	7	RNA splicing; gene expression; mRNA splicing, via spliceosome; spliceosomal complex; protein binding; nucleoplasm; catalytic step 2 spliceosome;
SNRNP200	7	RNA splicing; gene expression; mRNA splicing, via spliceosome; spliceosomal complex; protein binding; nucleoplasm; catalytic step 2 spliceosome;
PHF5A	6	U12-type spliceosomal complex; RNA splicing; gene expression; mRNA splicing, via spliceosome; spliceosomal complex; nucleoplasm;
CLNS1A	6	cytosol; gene expression; spliceosomal snRNP assembly; protein binding; RNA metabolic process; ncRNA metabolic process;
SART1	6	cytosol; spliceosomal snRNP assembly; mRNA splicing, via spliceosome; protein binding; nucleoplasm; catalytic step 2 spliceosome;
HNRNPH1	6	RNA splicing; gene expression; mRNA splicing, via spliceosome; protein binding; nucleoplasm; catalytic step 2 spliceosome;
PRPF4	6	RNA splicing; gene expression; mRNA splicing, via spliceosome; spliceosomal complex; protein binding; nucleoplasm;
SNRPA	6	RNA splicing; gene expression; mRNA splicing, via spliceosome; spliceosomal complex; protein binding; nucleoplasm;
TXNL4A	6	RNA splicing; gene expression; mRNA splicing, via spliceosome; spliceosomal complex; protein binding; nucleoplasm;
SNW1	6	gene expression; mRNA splicing, via spliceosome; spliceosomal complex; protein binding; nucleoplasm; catalytic step 2 spliceosome;
POLR2G	5	transcription from RNA polymerase II promoter; RNA splicing; gene expression; mRNA splicing, via spliceosome; nucleoplasm;
TAF10	5	transcription from RNA polymerase II promoter; gene expression; protein binding; nucleoplasm; enzyme binding;
TCEB1	5	transcription from RNA polymerase II promoter; cytosol; gene expression; protein binding; nucleoplasm;
ZCRB1	5	U12-type spliceosomal complex; RNA splicing; mRNA processing; spliceosomal complex; nucleoplasm;
ZRSR2	5	U12-type spliceosomal complex; RNA splicing; mRNA splicing, via spliceosome; spliceosomal complex; protein binding;
PSMB7	5	cytosol; gene expression; protein binding; nucleoplasm; RNA metabolic process;
PSMC3	5	cytosol; gene expression; protein binding; nucleoplasm; RNA metabolic process;
PSMD5	5	cytosol; gene expression; protein binding; nucleoplasm; RNA metabolic process;
PSMD7	5	cytosol; gene expression; protein binding; nucleoplasm; RNA metabolic process;
UBB	5	cytosol; gene expression; protein binding; nucleoplasm; RNA metabolic process;
UBC	5	cytosol; gene expression; protein binding; nucleoplasm; RNA metabolic process;
XPO1	5	cytosol; gene expression; protein binding; nucleoplasm; RNA metabolic process;
CD2BP2	5	RNA splicing; gene expression; mRNA splicing, via spliceosome; protein binding; nucleoplasm;
DHX8	5	RNA splicing; mRNA splicing, via spliceosome; spliceosomal complex; protein binding; catalytic step 2 spliceosome;
DHX9	5	RNA splicing; gene expression; mRNA splicing, via spliceosome; protein binding; nucleoplasm;
FUS	5	RNA splicing; gene expression; mRNA splicing, via spliceosome; protein binding; nucleoplasm;
SMC1A	5	RNA splicing; gene expression; mRNA splicing, via spliceosome; protein binding; nucleoplasm;

Genes shared at least 2 KEGG pathways with SNRPD3 (count: 2)

Gene Symbol	Pathway Count	Pathway List
SNRPB	2	Spliceosome; Systemic lupus erythematosus;
SNRPD1	2	Spliceosome; Systemic lupus erythematosus;

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Region: chr22:24951471..25006498 View in gBrowse