ADHDgene Database

Hot Results

Quick Search

Keyword:
Type:

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	ATXN1
Previous Symbol	SCA1
Symbol Alias	D6S504E, ATX1
Approved Name	ataxin 1
Previous Name	spinocerebellar ataxia 1 (olivopontocerebellar ataxia 1, autosomal dominant, ataxin 1)
Location	6p23
Position	chr6:16299343-16761722, -
External Links	HGNC: 10548 Entrez Gene: 6310 Ensembl: ENSG00000124788 UCSC: uc010jpi.2
No. of Studies	1 (significant: 0; non-significant: 0; trend: 1)
Source	Literature-origin; Mapped by LD-proxy; Mapped by literature SNP

Gene related studies (count: 1)

Reference	Statistical Values/Author Comments	Result of Statistical Analysis
Neale BM, 2010 (a)	2 SNPs of top 50 hits located within the gene	Trend

Gene related SNPs (count: 12)

Literature-origin SNPs (count: 2)

rs_ID	Location	Functional Annotation	No. of Studies (significant/non-significant/trend)
rs607138	Chr6:16749567(Fwd)	downstream_gene_variant; intron_variant; nc_transcript_variant	1(0/0/1)
rs649266	Chr6:16750901(Fwd)	downstream_gene_variant; intron_variant; nc_transcript_variant; upstream_gene_variant	1(0/0/1)

LD-proxies (count: 10)

rs_ID	Location	Functional Annotation
rs1150637	Chr6:16731227(Fwd)	intron_variant; nc_transcript_variant
rs651702	Chr6:16744616(Fwd)	intron_variant; nc_transcript_variant
rs547491	Chr6:16745530(Fwd)	intron_variant; nc_transcript_variant
rs500803	Chr6:16754454(Fwd)	intron_variant; nc_transcript_variant; upstream_gene_variant
rs2927	Chr6:16758112(Fwd)	intron_variant; nc_transcript_variant; upstream_gene_variant
rs660586	Chr6:16744053(Fwd)	intron_variant; nc_transcript_variant
rs492412	Chr6:16744072(Fwd)	intron_variant; nc_transcript_variant
rs493352	Chr6:16744169(Fwd)	intron_variant; nc_transcript_variant
rs639621	Chr6:16744265(Fwd)	intron_variant; nc_transcript_variant
rs648411	Chr6:16744500(Fwd)	intron_variant; nc_transcript_variant

Gene related CNVs (count: 0)

Gene related other variant (count: 0)

Gene related regions (count: 0)

Gene related GO terms (count: 26)

GO terms by PBA (with statistical significance of FDR<0.05) (count: 0)

GO terms by database search (count: 26)

ID	Name	Type	Evidence[PMID]	No. of Genes in ADHDgene
GO:0005515	protein binding	Molecular Function	IPI[17110330]	910
GO:0003677	DNA binding	Molecular Function		220
GO:0005654	nucleoplasm	Cellular Component	IDA[12757932]	183
GO:0005634	nucleus	Cellular Component		770
GO:0005737	cytoplasm	Cellular Component		690
GO:0005730	nucleolus	Cellular Component		243
GO:0006396	RNA processing	Biological Process	NAS[15615787]	11
GO:0006351	transcription, DNA-dependent	Biological Process		247
GO:0008219	cell death	Biological Process		33
GO:0008022	protein C-terminus binding	Molecular Function	IPI[15016912]	32
GO:0008344	adult locomotory behavior	Biological Process		12
GO:0008266	poly(U) RNA binding	Molecular Function	IDA[11136710]	3
GO:0016363	nuclear matrix	Cellular Component	IDA[9353120]	16
GO:0008542	visual learning	Biological Process		12
GO:0060079	regulation of excitatory postsynaptic membrane potential	Biological Process		9
GO:0051168	nuclear export	Biological Process	IDA[15615787]	3
GO:0045944	positive regulation of transcription from RNA polymerase II promoter	Biological Process		131
GO:0045892	negative regulation of transcription, DNA-dependent	Biological Process	IDA[15016912]	64
GO:0043621	protein self-association	Molecular Function	IDA[9097953]	8
GO:0043569	negative regulation of insulin-like growth factor receptor signaling pathway	Biological Process		3
GO:0043231	intracellular membrane-bounded organelle	Cellular Component		62
GO:0042802	identical protein binding	Molecular Function	IPI[16713569]	70
GO:0042405	nuclear inclusion body	Cellular Component	IDA[15615787]	2
GO:0042326	negative regulation of phosphorylation	Biological Process		5
GO:0042272	nuclear RNA export factor complex	Cellular Component	IDA[15615787]	1
GO:0034046	poly(G) RNA binding	Molecular Function	IDA[11136710]	2

Gene related KEGG pathways (count: 0)

Genes shared at least 5 GO terms with ATXN1 (count: 119)

Gene Symbol	Pathway Count	Pathway List
MEN1	9	protein binding; nucleoplasm; nucleus; cytoplasm; nucleolus; transcription, DNA-dependent; nuclear matrix; positive regulation of transcription from RNA polymerase II promoter; negative regulation of transcription, DNA-dependent;
XRCC5	9	protein binding; DNA binding; nucleoplasm; nucleus; cytoplasm; nucleolus; transcription, DNA-dependent; protein C-terminus binding; negative regulation of transcription, DNA-dependent;
RBPJ	8	protein binding; DNA binding; nucleoplasm; nucleus; cytoplasm; nucleolus; positive regulation of transcription from RNA polymerase II promoter; negative regulation of transcription, DNA-dependent;
RELA	8	protein binding; DNA binding; nucleoplasm; nucleus; cytoplasm; positive regulation of transcription from RNA polymerase II promoter; negative regulation of transcription, DNA-dependent; identical protein binding;
BCLAF1	7	protein binding; DNA binding; nucleus; cytoplasm; nucleolus; transcription, DNA-dependent; negative regulation of transcription, DNA-dependent;
FUS	7	protein binding; DNA binding; nucleoplasm; nucleus; cytoplasm; nucleolus; cell death;
HINFP	7	protein binding; DNA binding; nucleoplasm; nucleus; nucleolus; transcription, DNA-dependent; negative regulation of transcription, DNA-dependent;
HNRNPH1	7	protein binding; nucleoplasm; nucleus; cytoplasm; nucleolus; RNA processing; poly(U) RNA binding;
MAPK1	7	protein binding; DNA binding; nucleoplasm; nucleus; cytoplasm; nucleolus; transcription, DNA-dependent;
NR4A2	7	protein binding; nucleoplasm; nucleus; cytoplasm; transcription, DNA-dependent; adult locomotory behavior; positive regulation of transcription from RNA polymerase II promoter;
PGR	7	protein binding; DNA binding; nucleoplasm; nucleus; cytoplasm; nucleolus; intracellular membrane-bounded organelle;
SNW1	7	protein binding; nucleoplasm; nucleus; nucleolus; nuclear matrix; positive regulation of transcription from RNA polymerase II promoter; negative regulation of transcription, DNA-dependent;
TFAP2A	7	protein binding; nucleus; cytoplasm; nucleolus; positive regulation of transcription from RNA polymerase II promoter; negative regulation of transcription, DNA-dependent; intracellular membrane-bounded organelle;
ATXN2	6	protein binding; nucleus; cytoplasm; nucleolus; cell death; protein C-terminus binding;
BAIAP2	6	protein binding; nucleus; cytoplasm; nucleolus; protein C-terminus binding; identical protein binding;
BNIP3	6	protein binding; nucleoplasm; nucleus; cytoplasm; cell death; identical protein binding;
DAXX	6	protein binding; nucleus; cytoplasm; nucleolus; transcription, DNA-dependent; negative regulation of transcription, DNA-dependent;
DHX9	6	protein binding; DNA binding; nucleoplasm; nucleus; cytoplasm; nucleolus;
E2F5	6	protein binding; DNA binding; nucleoplasm; cytoplasm; transcription, DNA-dependent; positive regulation of transcription from RNA polymerase II promoter;
ELK3	6	protein binding; nucleus; nucleolus; transcription, DNA-dependent; negative regulation of transcription, DNA-dependent; intracellular membrane-bounded organelle;
GSK3B	6	protein binding; nucleus; cytoplasm; nucleolus; positive regulation of transcription from RNA polymerase II promoter; negative regulation of transcription, DNA-dependent;
HES1	6	protein binding; DNA binding; nucleus; cytoplasm; positive regulation of transcription from RNA polymerase II promoter; negative regulation of transcription, DNA-dependent;
HMGA1	6	protein binding; DNA binding; nucleoplasm; nucleus; transcription, DNA-dependent; negative regulation of transcription, DNA-dependent;
IGHMBP2	6	protein binding; DNA binding; nucleus; cytoplasm; transcription, DNA-dependent; cell death;
IRF7	6	protein binding; DNA binding; nucleoplasm; nucleus; cytoplasm; positive regulation of transcription from RNA polymerase II promoter;
KAT5	6	protein binding; nucleus; nucleolus; transcription, DNA-dependent; positive regulation of transcription from RNA polymerase II promoter; negative regulation of transcription, DNA-dependent;
KDM1A	6	protein binding; nucleoplasm; nucleus; transcription, DNA-dependent; positive regulation of transcription from RNA polymerase II promoter; negative regulation of transcription, DNA-dependent;
MALT1	6	protein binding; nucleus; cytoplasm; nucleolus; nuclear export; protein self-association;
MAML1	6	protein binding; nucleoplasm; nucleus; nucleolus; positive regulation of transcription from RNA polymerase II promoter; intracellular membrane-bounded organelle;
MRE11A	6	protein binding; DNA binding; nucleoplasm; nucleus; nucleolus; protein C-terminus binding;
MYB	6	protein binding; DNA binding; transcription, DNA-dependent; nuclear matrix; positive regulation of transcription from RNA polymerase II promoter; negative regulation of transcription, DNA-dependent;
NCOA6	6	protein binding; nucleoplasm; nucleus; nucleolus; positive regulation of transcription from RNA polymerase II promoter; intracellular membrane-bounded organelle;
NCOR2	6	protein binding; DNA binding; nucleoplasm; nucleus; nucleolus; transcription, DNA-dependent;
NUMA1	6	protein binding; nucleoplasm; nucleus; cytoplasm; nucleolus; nuclear matrix;
POU2F3	6	protein binding; nucleus; cytoplasm; nucleolus; transcription, DNA-dependent; positive regulation of transcription from RNA polymerase II promoter;
PSPC1	6	protein binding; nucleus; cytoplasm; nucleolus; transcription, DNA-dependent; nuclear matrix;
RBM4	6	protein binding; nucleoplasm; nucleus; cytoplasm; nucleolus; RNA processing;
SMARCB1	6	protein binding; nucleoplasm; nucleus; nucleolus; transcription, DNA-dependent; positive regulation of transcription from RNA polymerase II promoter;
SNCA	6	protein binding; nucleus; cytoplasm; adult locomotory behavior; regulation of excitatory postsynaptic membrane potential; identical protein binding;
SSRP1	6	protein binding; DNA binding; nucleoplasm; nucleus; cytoplasm; nucleolus;
STRN3	6	protein binding; nucleoplasm; nucleus; cytoplasm; positive regulation of transcription from RNA polymerase II promoter; negative regulation of transcription, DNA-dependent;
TAF13	6	protein binding; DNA binding; nucleoplasm; nucleus; nucleolus; protein C-terminus binding;
TCF25	6	protein binding; DNA binding; nucleus; cytoplasm; nucleolus; transcription, DNA-dependent;
ZBTB16	6	protein binding; DNA binding; nucleus; transcription, DNA-dependent; negative regulation of transcription, DNA-dependent; identical protein binding;
HOXB1	6	DNA binding; nucleus; cytoplasm; nucleolus; transcription, DNA-dependent; positive regulation of transcription from RNA polymerase II promoter;
ZNF263	6	DNA binding; nucleus; cytoplasm; nucleolus; transcription, DNA-dependent; negative regulation of transcription, DNA-dependent;
AATF	5	protein binding; nucleus; cytoplasm; nucleolus; positive regulation of transcription from RNA polymerase II promoter;
APBB1	5	protein binding; nucleus; cytoplasm; transcription, DNA-dependent; visual learning;
BRMS1	5	protein binding; nucleus; cytoplasm; transcription, DNA-dependent; negative regulation of transcription, DNA-dependent;
CBFA2T3	5	protein binding; nucleoplasm; nucleolus; transcription, DNA-dependent; positive regulation of transcription from RNA polymerase II promoter;
CBX3	5	protein binding; nucleus; transcription, DNA-dependent; negative regulation of transcription, DNA-dependent; identical protein binding;
CCDC85B	5	protein binding; nucleus; cytoplasm; transcription, DNA-dependent; negative regulation of transcription, DNA-dependent;
CHD1L	5	protein binding; DNA binding; nucleus; cytoplasm; nucleolus;
CREBZF	5	protein binding; DNA binding; nucleus; transcription, DNA-dependent; negative regulation of transcription, DNA-dependent;
DDB1	5	protein binding; DNA binding; nucleoplasm; nucleus; cytoplasm;
DGCR8	5	protein binding; nucleoplasm; nucleus; cytoplasm; nucleolus;
EED	5	protein binding; nucleus; transcription, DNA-dependent; negative regulation of transcription, DNA-dependent; identical protein binding;
EFTUD2	5	protein binding; nucleoplasm; nucleus; cytoplasm; nucleolus;
ERBB2	5	protein binding; nucleus; transcription, DNA-dependent; protein C-terminus binding; identical protein binding;
ESRRA	5	protein binding; DNA binding; nucleoplasm; nucleus; positive regulation of transcription from RNA polymerase II promoter;
ETS1	5	protein binding; DNA binding; nucleus; transcription, DNA-dependent; positive regulation of transcription from RNA polymerase II promoter;
FEN1	5	protein binding; DNA binding; nucleoplasm; nucleus; nucleolus;
FLII	5	protein binding; nucleus; cytoplasm; nucleolus; transcription, DNA-dependent;
FOXG1	5	protein binding; DNA binding; nucleus; positive regulation of transcription from RNA polymerase II promoter; negative regulation of transcription, DNA-dependent;
GATA6	5	protein binding; nucleoplasm; nucleus; positive regulation of transcription from RNA polymerase II promoter; negative regulation of transcription, DNA-dependent;
GPSM2	5	protein binding; nucleus; cytoplasm; nucleolus; identical protein binding;
HEY2	5	protein binding; nucleus; cytoplasm; positive regulation of transcription from RNA polymerase II promoter; negative regulation of transcription, DNA-dependent;
HNF1B	5	protein binding; DNA binding; nucleus; nucleolus; positive regulation of transcription from RNA polymerase II promoter;
HNRNPA2B1	5	protein binding; nucleoplasm; nucleus; cytoplasm; nucleolus;
HOXA5	5	protein binding; DNA binding; nucleus; transcription, DNA-dependent; positive regulation of transcription from RNA polymerase II promoter;
HSPA8	5	protein binding; nucleus; nucleolus; transcription, DNA-dependent; negative regulation of transcription, DNA-dependent;
ID2	5	protein binding; nucleus; cytoplasm; nucleolus; negative regulation of transcription, DNA-dependent;
MAPK3	5	protein binding; nucleoplasm; nucleus; nucleolus; positive regulation of transcription from RNA polymerase II promoter;
MED1	5	protein binding; nucleoplasm; nucleus; nucleolus; positive regulation of transcription from RNA polymerase II promoter;
NCOR1	5	protein binding; nucleoplasm; nucleus; cytoplasm; transcription, DNA-dependent;
NEDD4L	5	protein binding; nucleoplasm; nucleus; cytoplasm; transcription, DNA-dependent;
NR5A1	5	protein binding; DNA binding; nucleoplasm; nucleus; positive regulation of transcription from RNA polymerase II promoter;
NUP62	5	protein binding; cytoplasm; transcription, DNA-dependent; cell death; intracellular membrane-bounded organelle;
PAFAH1B1	5	protein binding; nucleus; cytoplasm; nucleolus; adult locomotory behavior;
PDCD4	5	protein binding; nucleus; cytoplasm; nucleolus; negative regulation of transcription, DNA-dependent;
PRC1	5	protein binding; nucleus; cytoplasm; nucleolus; identical protein binding;
PRKD1	5	protein binding; nucleus; cytoplasm; positive regulation of transcription from RNA polymerase II promoter; identical protein binding;
PRPF19	5	protein binding; DNA binding; nucleus; cytoplasm; identical protein binding;
PRPF4	5	protein binding; nucleoplasm; nucleus; nucleolus; RNA processing;
RAD1	5	protein binding; nucleoplasm; nucleus; nucleolus; intracellular membrane-bounded organelle;
RAD23B	5	protein binding; nucleoplasm; nucleus; cytoplasm; nucleolus;
RAD9A	5	protein binding; nucleoplasm; nucleus; cytoplasm; nucleolus;
RCC1	5	protein binding; nucleoplasm; nucleus; cytoplasm; nucleolus;
RFWD2	5	protein binding; nucleoplasm; nucleus; cytoplasm; nucleolus;
RPS6KA4	5	protein binding; nucleus; cytoplasm; nucleolus; positive regulation of transcription from RNA polymerase II promoter;
RRP8	5	protein binding; nucleus; cytoplasm; nucleolus; transcription, DNA-dependent;
SAP18	5	protein binding; nucleus; cytoplasm; nucleolus; transcription, DNA-dependent;
SART1	5	protein binding; nucleoplasm; nucleus; cytoplasm; nucleolus;
SMARCD3	5	protein binding; nucleoplasm; nucleus; cytoplasm; transcription, DNA-dependent;
SMC1A	5	protein binding; nucleoplasm; nucleus; cytoplasm; nucleolus;
SMC3	5	protein binding; nucleoplasm; nucleus; cytoplasm; nuclear matrix;
SREBF1	5	protein binding; DNA binding; nucleus; transcription, DNA-dependent; positive regulation of transcription from RNA polymerase II promoter;
STAP1	5	protein binding; nucleus; cytoplasm; nucleolus; intracellular membrane-bounded organelle;
TERF2IP	5	protein binding; nucleoplasm; nucleus; cytoplasm; transcription, DNA-dependent;
THRAP3	5	protein binding; nucleus; nucleolus; positive regulation of transcription from RNA polymerase II promoter; intracellular membrane-bounded organelle;
TNFAIP3	5	protein binding; DNA binding; nucleus; cytoplasm; protein self-association;
TP53BP1	5	protein binding; nucleoplasm; nucleus; cytoplasm; positive regulation of transcription from RNA polymerase II promoter;
TRIM5	5	protein binding; nucleus; cytoplasm; nucleolus; identical protein binding;
YAP1	5	protein binding; nucleoplasm; nucleus; cytoplasm; positive regulation of transcription from RNA polymerase II promoter;
ZFR	5	protein binding; DNA binding; nucleus; cytoplasm; nucleolus;
ZNF24	5	protein binding; DNA binding; nucleus; transcription, DNA-dependent; negative regulation of transcription, DNA-dependent;
ZNF423	5	protein binding; DNA binding; nucleus; transcription, DNA-dependent; negative regulation of transcription, DNA-dependent;
ARID3C	5	DNA binding; nucleus; cytoplasm; transcription, DNA-dependent; positive regulation of transcription from RNA polymerase II promoter;
GRHL1	5	DNA binding; nucleoplasm; nucleus; cytoplasm; transcription, DNA-dependent;
IKZF1	5	DNA binding; nucleus; cytoplasm; transcription, DNA-dependent; positive regulation of transcription from RNA polymerase II promoter;
NPAS3	5	DNA binding; nucleus; cytoplasm; nucleolus; transcription, DNA-dependent;
POLA2	5	DNA binding; nucleoplasm; nucleus; cytoplasm; nucleolus;
TAF4B	5	DNA binding; nucleoplasm; nucleus; cytoplasm; nucleolus;
ZNF367	5	DNA binding; nucleus; cytoplasm; nucleolus; transcription, DNA-dependent;
ZNF77	5	DNA binding; nucleus; cytoplasm; nucleolus; transcription, DNA-dependent;
HNRNPA1	5	nucleoplasm; nucleus; cytoplasm; nucleolus; nuclear export;
DPF2	5	nucleus; cytoplasm; nucleolus; transcription, DNA-dependent; intracellular membrane-bounded organelle;
FOXP1	5	nucleus; cytoplasm; nucleolus; positive regulation of transcription from RNA polymerase II promoter; negative regulation of transcription, DNA-dependent;
MPHOSPH8	5	nucleus; cytoplasm; nucleolus; transcription, DNA-dependent; negative regulation of transcription, DNA-dependent;

Genes shared at least 2 KEGG pathways with ATXN1 (count: 0)

View in gBrowse

Region: chr6:16299343..16761722 View in gBrowse