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	TFEB
Symbol Alias	TCFEB, bHLHe35
Approved Name	transcription factor EB
Location	6p21
Position	chr6:41651716-41703997, -
External Links	HGNC: 11753 Entrez Gene: 7942 Ensembl: ENSG00000112561 UCSC: uc003oqs.1
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
Lesch KP, 2008	Trend associated SNP was mapped in this gene.	Trend

Gene related SNPs (count: 9)

Literature-origin SNPs (count: 1)

rs_ID	Location	Functional Annotation	No. of Studies (significant/non-significant/trend)
rs2842643	Chr6:41650736(Fwd)	downstream_gene_variant; upstream_gene_variant	1(0/0/1)

LD-proxies (count: 8)

rs_ID	Location	Functional Annotation
rs1062966	Chr6:41652604(Fwd)	downstream_gene_variant; synonymous_variant; upstream_gene_variant
rs2842646	Chr6:41646885(Fwd)	downstream_gene_variant
rs9369302	Chr6:41664121(Fwd)	intron_variant; upstream_gene_variant
rs2073157	Chr6:41655005(Fwd)	downstream_gene_variant; intron_variant; nc_transcript_variant
rs973361	Chr6:41647403(Fwd)	downstream_gene_variant
rs4472338	Chr6:41664727(Fwd)	intron_variant
rs2073156	Chr6:41657328(Fwd)	downstream_gene_variant; intron_variant; upstream_gene_variant
rs2246159	Chr6:41650975(Fwd)	downstream_gene_variant; upstream_gene_variant

Gene related CNVs (count: 0)

Gene related other variant (count: 0)

Gene related regions (count: 0)

Gene related GO terms (count: 11)

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

GO terms by database search (count: 11)

ID	Name	Type	Evidence[PMID]	No. of Genes in ADHDgene
GO:0006355	regulation of transcription, DNA-dependent	Biological Process	NAS[2115126]	158
GO:0006351	transcription, DNA-dependent	Biological Process		247
GO:0044212	transcription regulatory region DNA binding	Molecular Function	IDA[19556463]	23
GO:0006959	humoral immune response	Biological Process		4
GO:0046982	protein heterodimerization activity	Molecular Function		68
GO:0045944	positive regulation of transcription from RNA polymerase II promoter	Biological Process	IDA[19556463]	131
GO:0001892	embryonic placenta development	Biological Process		4
GO:0003700	sequence-specific DNA binding transcription factor activity	Molecular Function	IDA[19556463]; NAS[2115126]	132
GO:0005634	nucleus	Cellular Component	IDA[19556463]; NAS[2115126]	770
GO:0005667	transcription factor complex	Cellular Component		51
GO:0005737	cytoplasm	Cellular Component	IDA[19556463]	690

Gene related KEGG pathways (count: 0)

Genes shared at least 5 GO terms with TFEB (count: 29)

Gene Symbol	Pathway Count	Pathway List
BCL11A	6	regulation of transcription, DNA-dependent; transcription, DNA-dependent; protein heterodimerization activity; positive regulation of transcription from RNA polymerase II promoter; nucleus; cytoplasm;
HOXB1	6	regulation of transcription, DNA-dependent; transcription, DNA-dependent; positive regulation of transcription from RNA polymerase II promoter; sequence-specific DNA binding transcription factor activity; nucleus; cytoplasm;
BSX	6	transcription, DNA-dependent; positive regulation of transcription from RNA polymerase II promoter; sequence-specific DNA binding transcription factor activity; nucleus; transcription factor complex; cytoplasm;
IKZF1	6	transcription, DNA-dependent; protein heterodimerization activity; positive regulation of transcription from RNA polymerase II promoter; sequence-specific DNA binding transcription factor activity; nucleus; cytoplasm;
KDM1A	6	transcription, DNA-dependent; transcription regulatory region DNA binding; positive regulation of transcription from RNA polymerase II promoter; sequence-specific DNA binding transcription factor activity; nucleus; transcription factor complex;
NCOR1	6	transcription, DNA-dependent; transcription regulatory region DNA binding; sequence-specific DNA binding transcription factor activity; nucleus; transcription factor complex; cytoplasm;
POU2F3	6	transcription, DNA-dependent; positive regulation of transcription from RNA polymerase II promoter; sequence-specific DNA binding transcription factor activity; nucleus; transcription factor complex; cytoplasm;
HNF1B	6	transcription regulatory region DNA binding; protein heterodimerization activity; positive regulation of transcription from RNA polymerase II promoter; sequence-specific DNA binding transcription factor activity; nucleus; transcription factor complex;
RELA	6	transcription regulatory region DNA binding; positive regulation of transcription from RNA polymerase II promoter; sequence-specific DNA binding transcription factor activity; nucleus; transcription factor complex; cytoplasm;
CLOCK	5	regulation of transcription, DNA-dependent; positive regulation of transcription from RNA polymerase II promoter; sequence-specific DNA binding transcription factor activity; nucleus; transcription factor complex;
FOXD4	5	regulation of transcription, DNA-dependent; positive regulation of transcription from RNA polymerase II promoter; sequence-specific DNA binding transcription factor activity; nucleus; transcription factor complex;
HINFP	5	regulation of transcription, DNA-dependent; transcription, DNA-dependent; transcription regulatory region DNA binding; sequence-specific DNA binding transcription factor activity; nucleus;
HMGA1	5	regulation of transcription, DNA-dependent; transcription, DNA-dependent; sequence-specific DNA binding transcription factor activity; nucleus; transcription factor complex;
TAF4B	5	regulation of transcription, DNA-dependent; protein heterodimerization activity; sequence-specific DNA binding transcription factor activity; nucleus; cytoplasm;
TRIM22	5	regulation of transcription, DNA-dependent; transcription, DNA-dependent; sequence-specific DNA binding transcription factor activity; nucleus; cytoplasm;
ZNF263	5	regulation of transcription, DNA-dependent; transcription, DNA-dependent; sequence-specific DNA binding transcription factor activity; nucleus; cytoplasm;
E2F5	5	transcription, DNA-dependent; positive regulation of transcription from RNA polymerase II promoter; sequence-specific DNA binding transcription factor activity; transcription factor complex; cytoplasm;
ETS1	5	transcription, DNA-dependent; positive regulation of transcription from RNA polymerase II promoter; sequence-specific DNA binding transcription factor activity; nucleus; transcription factor complex;
HOXA13	5	transcription, DNA-dependent; transcription regulatory region DNA binding; positive regulation of transcription from RNA polymerase II promoter; sequence-specific DNA binding transcription factor activity; nucleus;
HOXA9	5	transcription, DNA-dependent; sequence-specific DNA binding transcription factor activity; nucleus; transcription factor complex; cytoplasm;
LPIN1	5	transcription, DNA-dependent; positive regulation of transcription from RNA polymerase II promoter; nucleus; transcription factor complex; cytoplasm;
MEN1	5	transcription, DNA-dependent; transcription regulatory region DNA binding; positive regulation of transcription from RNA polymerase II promoter; nucleus; cytoplasm;
NR4A2	5	transcription, DNA-dependent; protein heterodimerization activity; positive regulation of transcription from RNA polymerase II promoter; nucleus; cytoplasm;
PRDM1	5	transcription, DNA-dependent; embryonic placenta development; sequence-specific DNA binding transcription factor activity; nucleus; cytoplasm;
FOXC2	5	transcription regulatory region DNA binding; positive regulation of transcription from RNA polymerase II promoter; sequence-specific DNA binding transcription factor activity; nucleus; transcription factor complex;
GATA6	5	transcription regulatory region DNA binding; positive regulation of transcription from RNA polymerase II promoter; sequence-specific DNA binding transcription factor activity; nucleus; transcription factor complex;
MTA2	5	transcription regulatory region DNA binding; positive regulation of transcription from RNA polymerase II promoter; sequence-specific DNA binding transcription factor activity; nucleus; transcription factor complex;
YAP1	5	transcription regulatory region DNA binding; positive regulation of transcription from RNA polymerase II promoter; nucleus; transcription factor complex; cytoplasm;
FOXP1	5	protein heterodimerization activity; positive regulation of transcription from RNA polymerase II promoter; nucleus; transcription factor complex; cytoplasm;

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

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Region: chr6:41651716..41703997 View in gBrowse