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	SNRNP200
Previous Symbol	ASCC3L1, RP33
Symbol Alias	U5-200KD, HELIC2, KIAA0788, BRR2
Approved Name	small nuclear ribonucleoprotein 200kDa (U5)
Previous Name	activating signal cointegrator 1 complex subunit 3-like 1, "retinitis pigmentosa 33 (autosomal dominant)"
Name Alias	U5 snRNP specific protein, 200 KD
Location	2q11.2
Position	chr2:96940074-96971297, -
External Links	HGNC: 30859 Entrez Gene: 23020 Ensembl: ENSG00000144028 UCSC: uc002svu.2
No. of Studies	0 (significant: 0; non-significant: 0; trend: 0)
Source	Mapped by LD-proxy

Gene related studies (count: 0)

Gene related SNPs (count: 2)

Literature-origin SNPs (count: 0)

LD-proxies (count: 2)

rs_ID	Location	Functional Annotation
rs772175	Chr2:96944553(Fwd)	NMD_transcript_variant; downstream_gene_variant; intron_variant; nc_transcript_variant; non_coding_exon_variant; synonymous_variant; upstream_gene_variant
rs772178	Chr2:96963684(Fwd)	intron_variant

Gene related CNVs (count: 0)

Gene related other variant (count: 0)

Gene related regions (count: 0)

Gene related GO terms (count: 14)

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[8670905]	51

GO terms by database search (count: 13)

ID	Name	Type	Evidence[PMID]	No. of Genes in ADHDgene
GO:0008380	RNA splicing	Biological Process	IDA[8670905]	65
GO:0010467	gene expression	Biological Process		140
GO:0071013	catalytic step 2 spliceosome	Cellular Component	IDA[11991638]	31
GO:0005682	U5 snRNP	Cellular Component	IDA[9539711]	5
GO:0008026	ATP-dependent helicase activity	Molecular Function	IDA[9539711]	9
GO:0005730	nucleolus	Cellular Component		243
GO:0005524	ATP binding	Molecular Function		228
GO:0005515	protein binding	Molecular Function	IPI[18951082]	910
GO:0005654	nucleoplasm	Cellular Component		183
GO:0005634	nucleus	Cellular Component		770
GO:0000354	cis assembly of pre-catalytic spliceosome	Biological Process	IC[9539711]	2
GO:0003676	nucleic acid binding	Molecular Function		41
GO:0000398	mRNA splicing, via spliceosome	Biological Process	IC[11991638]	54

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 SNRNP200 (count: 65)

Gene Symbol	Pathway Count	Pathway List
DDX23	14	RNA splicing; gene expression; catalytic step 2 spliceosome; U5 snRNP; spliceosomal complex; ATP-dependent helicase activity; nucleolus; ATP binding; protein binding; nucleoplasm; nucleus; cis assembly of pre-catalytic spliceosome; nucleic acid binding; mRNA splicing, via spliceosome;
SF3A3	10	RNA splicing; gene expression; catalytic step 2 spliceosome; spliceosomal complex; nucleolus; protein binding; nucleoplasm; nucleus; nucleic acid binding; mRNA splicing, via spliceosome;
EFTUD2	9	RNA splicing; gene expression; catalytic step 2 spliceosome; spliceosomal complex; nucleolus; protein binding; nucleoplasm; nucleus; mRNA splicing, via spliceosome;
HNRNPA2B1	9	RNA splicing; gene expression; catalytic step 2 spliceosome; spliceosomal complex; nucleolus; protein binding; nucleoplasm; nucleus; mRNA splicing, via spliceosome;
PRPF6	9	RNA splicing; gene expression; catalytic step 2 spliceosome; U5 snRNP; spliceosomal complex; protein binding; nucleoplasm; nucleus; mRNA splicing, via spliceosome;
SF3A1	9	RNA splicing; gene expression; catalytic step 2 spliceosome; spliceosomal complex; nucleolus; protein binding; nucleoplasm; nucleus; mRNA splicing, via spliceosome;
SF3B2	9	RNA splicing; gene expression; catalytic step 2 spliceosome; spliceosomal complex; nucleolus; nucleoplasm; nucleus; nucleic acid binding; mRNA splicing, via spliceosome;
U2AF1	9	RNA splicing; gene expression; catalytic step 2 spliceosome; spliceosomal complex; nucleolus; protein binding; nucleoplasm; nucleus; mRNA splicing, via spliceosome;
DHX8	8	RNA splicing; catalytic step 2 spliceosome; spliceosomal complex; nucleolus; ATP binding; protein binding; nucleus; mRNA splicing, via spliceosome;
DHX9	8	RNA splicing; gene expression; nucleolus; ATP binding; protein binding; nucleoplasm; nucleus; mRNA splicing, via spliceosome;
HNRNPA1	8	RNA splicing; gene expression; catalytic step 2 spliceosome; spliceosomal complex; nucleolus; nucleoplasm; nucleus; mRNA splicing, via spliceosome;
HNRNPH1	8	RNA splicing; gene expression; catalytic step 2 spliceosome; nucleolus; protein binding; nucleoplasm; nucleus; mRNA splicing, via spliceosome;
PRPF4	8	RNA splicing; gene expression; spliceosomal complex; nucleolus; protein binding; nucleoplasm; nucleus; mRNA splicing, via spliceosome;
PRPF8	8	RNA splicing; gene expression; catalytic step 2 spliceosome; U5 snRNP; spliceosomal complex; protein binding; nucleoplasm; mRNA splicing, via spliceosome;
SMC1A	8	RNA splicing; gene expression; nucleolus; ATP binding; protein binding; nucleoplasm; nucleus; mRNA splicing, via spliceosome;
SNW1	8	gene expression; catalytic step 2 spliceosome; spliceosomal complex; nucleolus; protein binding; nucleoplasm; nucleus; mRNA splicing, via spliceosome;
CD2BP2	7	RNA splicing; gene expression; U5 snRNP; protein binding; nucleoplasm; nucleus; mRNA splicing, via spliceosome;
DHX15	7	RNA splicing; spliceosomal complex; ATP-dependent helicase activity; nucleolus; ATP binding; nucleus; nucleic acid binding;
FUS	7	RNA splicing; gene expression; nucleolus; protein binding; nucleoplasm; nucleus; mRNA splicing, via spliceosome;
HNRNPC	7	RNA splicing; gene expression; catalytic step 2 spliceosome; spliceosomal complex; protein binding; nucleoplasm; mRNA splicing, via spliceosome;
HSPA8	7	RNA splicing; gene expression; spliceosomal complex; nucleolus; ATP binding; protein binding; nucleus;
SF3A2	7	RNA splicing; gene expression; catalytic step 2 spliceosome; spliceosomal complex; nucleoplasm; nucleic acid binding; mRNA splicing, via spliceosome;
SF3B3	7	RNA splicing; gene expression; catalytic step 2 spliceosome; spliceosomal complex; nucleoplasm; nucleic acid binding; mRNA splicing, via spliceosome;
SNRPA1	7	RNA splicing; gene expression; catalytic step 2 spliceosome; spliceosomal complex; protein binding; nucleoplasm; mRNA splicing, via spliceosome;
SNRPB	7	RNA splicing; gene expression; catalytic step 2 spliceosome; spliceosomal complex; protein binding; nucleoplasm; mRNA splicing, via spliceosome;
SNRPB2	7	RNA splicing; gene expression; catalytic step 2 spliceosome; spliceosomal complex; protein binding; nucleoplasm; mRNA splicing, via spliceosome;
SNRPD1	7	RNA splicing; gene expression; catalytic step 2 spliceosome; protein binding; nucleoplasm; nucleus; mRNA splicing, via spliceosome;
SNRPD2	7	RNA splicing; gene expression; catalytic step 2 spliceosome; spliceosomal complex; protein binding; nucleoplasm; mRNA splicing, via spliceosome;
SNRPD3	7	RNA splicing; gene expression; catalytic step 2 spliceosome; spliceosomal complex; protein binding; nucleoplasm; mRNA splicing, via spliceosome;
SNRPG	7	RNA splicing; gene expression; catalytic step 2 spliceosome; spliceosomal complex; protein binding; nucleoplasm; mRNA splicing, via spliceosome;
CDC40	6	RNA splicing; gene expression; catalytic step 2 spliceosome; spliceosomal complex; nucleoplasm; mRNA splicing, via spliceosome;
CPSF7	6	RNA splicing; gene expression; protein binding; nucleoplasm; nucleus; mRNA splicing, via spliceosome;
NCBP1	6	RNA splicing; gene expression; protein binding; nucleoplasm; nucleus; mRNA splicing, via spliceosome;
SF3B4	6	RNA splicing; gene expression; spliceosomal complex; protein binding; nucleoplasm; mRNA splicing, via spliceosome;
SNRPA	6	RNA splicing; gene expression; spliceosomal complex; protein binding; nucleoplasm; mRNA splicing, via spliceosome;
SNRPF	6	RNA splicing; gene expression; catalytic step 2 spliceosome; spliceosomal complex; nucleoplasm; mRNA splicing, via spliceosome;
TXNL4A	6	RNA splicing; gene expression; spliceosomal complex; protein binding; nucleoplasm; mRNA splicing, via spliceosome;
U2AF2	6	RNA splicing; gene expression; spliceosomal complex; protein binding; nucleoplasm; mRNA splicing, via spliceosome;
MAPK3	6	gene expression; nucleolus; ATP binding; protein binding; nucleoplasm; nucleus;
SART1	6	catalytic step 2 spliceosome; nucleolus; protein binding; nucleoplasm; nucleus; mRNA splicing, via spliceosome;
CDK12	5	RNA splicing; nucleolus; ATP binding; protein binding; nucleus;
CLP1	5	RNA splicing; gene expression; ATP binding; nucleoplasm; mRNA splicing, via spliceosome;
CPSF3	5	RNA splicing; gene expression; protein binding; nucleoplasm; mRNA splicing, via spliceosome;
PHF5A	5	RNA splicing; gene expression; spliceosomal complex; nucleoplasm; mRNA splicing, via spliceosome;
POLR2G	5	RNA splicing; gene expression; nucleoplasm; nucleus; mRNA splicing, via spliceosome;
RBM4	5	RNA splicing; nucleolus; protein binding; nucleoplasm; nucleus;
THRAP3	5	RNA splicing; nucleolus; ATP binding; protein binding; nucleus;
ZMAT5	5	RNA splicing; spliceosomal complex; nucleolus; nucleus; nucleic acid binding;
DGCR8	5	gene expression; nucleolus; protein binding; nucleoplasm; nucleus;
IARS	5	gene expression; nucleolus; ATP binding; protein binding; nucleus;
MAML1	5	gene expression; nucleolus; protein binding; nucleoplasm; nucleus;
MED1	5	gene expression; nucleolus; protein binding; nucleoplasm; nucleus;
MED4	5	gene expression; nucleolus; protein binding; nucleoplasm; nucleus;
MEN1	5	gene expression; nucleolus; protein binding; nucleoplasm; nucleus;
NCOR2	5	gene expression; nucleolus; protein binding; nucleoplasm; nucleus;
PGR	5	gene expression; nucleolus; protein binding; nucleoplasm; nucleus;
PSMC3	5	gene expression; ATP binding; protein binding; nucleoplasm; nucleus;
RBPJ	5	gene expression; nucleolus; protein binding; nucleoplasm; nucleus;
SSRP1	5	gene expression; nucleolus; protein binding; nucleoplasm; nucleus;
TAF13	5	gene expression; nucleolus; protein binding; nucleoplasm; nucleus;
CWC15	5	catalytic step 2 spliceosome; spliceosomal complex; protein binding; nucleus; mRNA splicing, via spliceosome;
SLU7	5	catalytic step 2 spliceosome; spliceosomal complex; nucleolus; nucleus; mRNA splicing, via spliceosome;
SF1	5	spliceosomal complex; nucleolus; nucleus; nucleic acid binding; mRNA splicing, via spliceosome;
MAPK1	5	nucleolus; ATP binding; protein binding; nucleoplasm; nucleus;
XRCC5	5	nucleolus; ATP binding; protein binding; nucleoplasm; nucleus;

Genes shared at least 2 KEGG pathways with SNRNP200 (count: 0)

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Region: chr2:96940074..96971297 View in gBrowse