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	TARDBP
Symbol Alias	TDP-43, ALS10
Approved Name	TAR DNA binding protein
Location	1p36.22
Position	chr1:11072414-11085796, +
External Links	HGNC: 11571 Entrez Gene: 23435 Ensembl: ENSG00000120948 UCSC: uc001art.2
No. of Studies	0 (significant: 0; non-significant: 0; trend: 0)
Source	Mapped by literature SNP

Gene related studies (count: 0)

Gene related SNPs (count: 1)

Literature-origin SNPs (count: 1)

rs_ID	Location	Functional Annotation	No. of Studies (significant/non-significant/trend)
rs11689432	Chr1:11082610(Fwd)	NMD_transcript_variant; downstream_gene_variant; intron_variant; missense_variant; upstream_gene_variant	1(1/0/0)

LD-proxies (count: 0)

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: 0)

GO terms by database search (count: 14)

ID	Name	Type	Evidence[PMID]	No. of Genes in ADHDgene
GO:0070935	3'-UTR-mediated mRNA stabilization	Biological Process	IDA[17481916]	2
GO:0008380	RNA splicing	Biological Process	IDA[11285240]	65
GO:0043922	negative regulation by host of viral transcription	Biological Process	IDA[7745706]	2
GO:0006397	mRNA processing	Biological Process		50
GO:0008219	cell death	Biological Process		33
GO:0005730	nucleolus	Cellular Component		243
GO:0006366	transcription from RNA polymerase II promoter	Biological Process	TAS[7745706]	62
GO:0005515	protein binding	Molecular Function		910
GO:0005634	nucleus	Cellular Component		770
GO:0003723	RNA binding	Molecular Function	IDA[11285240]	104
GO:0003730	mRNA 3'-UTR binding	Molecular Function	IDA[17481916]	7
GO:0003700	sequence-specific DNA binding transcription factor activity	Molecular Function	TAS[7745706]	132
GO:0003690	double-stranded DNA binding	Molecular Function	IDA[7745706]	17
GO:0000166	nucleotide binding	Molecular Function		73

Gene related KEGG pathways (count: 0)

Genes shared at least 5 GO terms with TARDBP (count: 34)

Gene Symbol	Pathway Count	Pathway List
RBM4	8	RNA splicing; mRNA processing; nucleolus; protein binding; nucleus; RNA binding; mRNA 3'-UTR binding; nucleotide binding;
U2AF1	8	RNA splicing; mRNA processing; nucleolus; transcription from RNA polymerase II promoter; protein binding; nucleus; RNA binding; nucleotide binding;
CPSF7	7	RNA splicing; mRNA processing; transcription from RNA polymerase II promoter; protein binding; nucleus; RNA binding; nucleotide binding;
FUS	7	RNA splicing; cell death; nucleolus; protein binding; nucleus; RNA binding; nucleotide binding;
HNRNPA2B1	7	RNA splicing; mRNA processing; nucleolus; protein binding; nucleus; RNA binding; nucleotide binding;
HNRNPA1	6	RNA splicing; mRNA processing; nucleolus; nucleus; RNA binding; nucleotide binding;
HNRNPH1	6	RNA splicing; nucleolus; protein binding; nucleus; RNA binding; nucleotide binding;
NCBP1	6	RNA splicing; mRNA processing; transcription from RNA polymerase II promoter; protein binding; nucleus; RNA binding;
RBFOX1	6	RNA splicing; mRNA processing; protein binding; nucleus; RNA binding; nucleotide binding;
SCAF8	6	RNA splicing; mRNA processing; nucleolus; nucleus; RNA binding; nucleotide binding;
SF3A1	6	RNA splicing; mRNA processing; nucleolus; protein binding; nucleus; RNA binding;
U2AF2	6	RNA splicing; mRNA processing; transcription from RNA polymerase II promoter; protein binding; RNA binding; nucleotide binding;
CDK12	5	RNA splicing; mRNA processing; nucleolus; protein binding; nucleus;
CPSF3	5	RNA splicing; mRNA processing; transcription from RNA polymerase II promoter; protein binding; RNA binding;
DHX8	5	RNA splicing; nucleolus; protein binding; nucleus; RNA binding;
EFTUD2	5	RNA splicing; mRNA processing; nucleolus; protein binding; nucleus;
HSPA8	5	RNA splicing; mRNA processing; nucleolus; protein binding; nucleus;
RBM4B	5	RNA splicing; mRNA processing; nucleolus; RNA binding; nucleotide binding;
SF3A3	5	RNA splicing; mRNA processing; nucleolus; protein binding; nucleus;
SF3B4	5	RNA splicing; mRNA processing; protein binding; RNA binding; nucleotide binding;
SMNDC1	5	RNA splicing; mRNA processing; protein binding; nucleus; RNA binding;
SNRNP35	5	RNA splicing; mRNA processing; nucleus; RNA binding; nucleotide binding;
SNRPG	5	RNA splicing; mRNA processing; transcription from RNA polymerase II promoter; protein binding; RNA binding;
SRSF8	5	RNA splicing; mRNA processing; nucleus; RNA binding; nucleotide binding;
THRAP3	5	RNA splicing; mRNA processing; nucleolus; protein binding; nucleus;
POU2F3	5	negative regulation by host of viral transcription; nucleolus; protein binding; nucleus; sequence-specific DNA binding transcription factor activity;
CELF1	5	mRNA processing; protein binding; nucleus; RNA binding; nucleotide binding;
ATXN2	5	cell death; nucleolus; protein binding; nucleus; RNA binding;
NOL8	5	nucleolus; protein binding; nucleus; RNA binding; nucleotide binding;
PSPC1	5	nucleolus; protein binding; nucleus; RNA binding; nucleotide binding;
RBM14	5	nucleolus; protein binding; nucleus; RNA binding; nucleotide binding;
SETD1A	5	nucleolus; protein binding; nucleus; RNA binding; nucleotide binding;
TAF13	5	nucleolus; transcription from RNA polymerase II promoter; protein binding; nucleus; sequence-specific DNA binding transcription factor activity;
IGF2BP3	5	protein binding; nucleus; RNA binding; mRNA 3'-UTR binding; nucleotide binding;

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

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Region: chr1:11072414..11085796 View in gBrowse