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	MLL
Symbol Alias	TRX1, HRX, ALL-1, HTRX1, CXXC7, MLL1A, KMT2A
Approved Name	myeloid/lymphoid or mixed-lineage leukemia (trithorax homolog, Drosophila)
Previous Name	myeloid/lymphoid or mixed-lineage leukemia (trithorax (Drosophila) homolog)
Location	11q23
Position	chr11:118307205-118397539, +
External Links	HGNC: 7132 Entrez Gene: 4297 Ensembl: ENSG00000118058 UCSC: uc001pta.2
No. of Studies	0 (significant: 0; non-significant: 0; trend: 0)
Source	Mapped by significant region

Gene related studies (count: 0)

Gene related SNPs (count: 0)

Gene related CNVs (count: 0)

Gene related other variant (count: 0)

Gene related regions (count: 1)

Region Name	Position	No. of Studies (significant/non-significant/trend)
11q	chr11:53700000-135006516	2 (1/1/0)

Gene related GO terms (count: 24)

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

GO terms by database search (count: 24)

ID	Name	Type	Evidence[PMID]	No. of Genes in ADHDgene
GO:0032411	positive regulation of transporter activity	Biological Process		2
GO:0008270	zinc ion binding	Molecular Function	IDA[19187761]	323
GO:0006915	apoptotic process	Biological Process		111
GO:0006461	protein complex assembly	Biological Process	IDA[15199122]	28
GO:0006366	transcription from RNA polymerase II promoter	Biological Process	TAS[10821850]	62
GO:0005634	nucleus	Cellular Component	IDA[15640349]; NAS[1423624]	770
GO:0005515	protein binding	Molecular Function		910
GO:0003700	sequence-specific DNA binding transcription factor activity	Molecular Function	NAS[10821850]	132
GO:0003680	AT DNA binding	Molecular Function	NAS[1423624]	2
GO:2001040	positive regulation of cellular response to drug	Biological Process		1
GO:0071339	MLL1 complex	Cellular Component	IDA[15960975]	7
GO:0080182	histone H3-K4 trimethylation	Biological Process		1
GO:0051568	histone H3-K4 methylation	Biological Process	IDA[19556245]; IMP[15960975]	2
GO:0070577	histone acetyl-lysine binding	Molecular Function	IDA[19187761]	1
GO:0045893	positive regulation of transcription, DNA-dependent	Biological Process	IMP[15960975]	80
GO:0045944	positive regulation of transcription from RNA polymerase II promoter	Biological Process		131
GO:0044212	transcription regulatory region DNA binding	Molecular Function		23
GO:0045322	unmethylated CpG binding	Molecular Function	IDA[16990798]	2
GO:0042803	protein homodimerization activity	Molecular Function	IDA[11313484]	113
GO:0043984	histone H4-K16 acetylation	Biological Process	IMP[15960975]	2
GO:0042800	histone methyltransferase activity (H3-K4 specific)	Molecular Function	IDA[19556245]; IMP[15960975]	2
GO:0042802	identical protein binding	Molecular Function	IPI[11313484]	70
GO:0035097	histone methyltransferase complex	Cellular Component	IDA[19556245]	4
GO:0035162	embryonic hemopoiesis	Biological Process	TAS[15618964]	4

Gene related KEGG pathways (count: 1)

ID	Name	No. of Genes in ADHDgene	Brief Description
hsa00310	Lysine degradation	9

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

Gene Symbol	Pathway Count	Pathway List
GATA6	8	zinc ion binding; apoptotic process; transcription from RNA polymerase II promoter; nucleus; protein binding; sequence-specific DNA binding transcription factor activity; positive regulation of transcription from RNA polymerase II promoter; transcription regulatory region DNA binding;
ZBTB16	7	zinc ion binding; apoptotic process; nucleus; protein binding; positive regulation of transcription, DNA-dependent; protein homodimerization activity; identical protein binding;
TFAP2A	7	transcription from RNA polymerase II promoter; nucleus; protein binding; positive regulation of transcription, DNA-dependent; positive regulation of transcription from RNA polymerase II promoter; transcription regulatory region DNA binding; protein homodimerization activity;
HNF1B	7	nucleus; protein binding; sequence-specific DNA binding transcription factor activity; positive regulation of transcription, DNA-dependent; positive regulation of transcription from RNA polymerase II promoter; transcription regulatory region DNA binding; protein homodimerization activity;
RELA	7	nucleus; protein binding; sequence-specific DNA binding transcription factor activity; positive regulation of transcription, DNA-dependent; positive regulation of transcription from RNA polymerase II promoter; transcription regulatory region DNA binding; identical protein binding;
CREB5	6	zinc ion binding; transcription from RNA polymerase II promoter; nucleus; protein binding; sequence-specific DNA binding transcription factor activity; positive regulation of transcription, DNA-dependent;
HINFP	6	zinc ion binding; nucleus; protein binding; sequence-specific DNA binding transcription factor activity; positive regulation of transcription, DNA-dependent; transcription regulatory region DNA binding;
KLF11	6	zinc ion binding; apoptotic process; transcription from RNA polymerase II promoter; nucleus; sequence-specific DNA binding transcription factor activity; transcription regulatory region DNA binding;
KLF4	6	zinc ion binding; transcription from RNA polymerase II promoter; sequence-specific DNA binding transcription factor activity; positive regulation of transcription, DNA-dependent; positive regulation of transcription from RNA polymerase II promoter; transcription regulatory region DNA binding;
MTA2	6	zinc ion binding; nucleus; protein binding; sequence-specific DNA binding transcription factor activity; positive regulation of transcription from RNA polymerase II promoter; transcription regulatory region DNA binding;
SQSTM1	6	zinc ion binding; apoptotic process; protein binding; positive regulation of transcription from RNA polymerase II promoter; protein homodimerization activity; identical protein binding;
HES1	6	protein complex assembly; nucleus; protein binding; sequence-specific DNA binding transcription factor activity; positive regulation of transcription from RNA polymerase II promoter; protein homodimerization activity;
HMGA1	6	protein complex assembly; nucleus; protein binding; sequence-specific DNA binding transcription factor activity; AT DNA binding; positive regulation of transcription, DNA-dependent;
ETS1	6	transcription from RNA polymerase II promoter; nucleus; protein binding; sequence-specific DNA binding transcription factor activity; positive regulation of transcription, DNA-dependent; positive regulation of transcription from RNA polymerase II promoter;
KLF13	5	zinc ion binding; transcription from RNA polymerase II promoter; nucleus; protein binding; positive regulation of transcription from RNA polymerase II promoter;
LHX1	5	zinc ion binding; transcription from RNA polymerase II promoter; nucleus; sequence-specific DNA binding transcription factor activity; positive regulation of transcription, DNA-dependent;
LHX2	5	zinc ion binding; nucleus; sequence-specific DNA binding transcription factor activity; positive regulation of transcription, DNA-dependent; positive regulation of transcription from RNA polymerase II promoter;
RREB1	5	zinc ion binding; transcription from RNA polymerase II promoter; nucleus; sequence-specific DNA binding transcription factor activity; positive regulation of transcription, DNA-dependent;
TRIM5	5	zinc ion binding; nucleus; protein binding; protein homodimerization activity; identical protein binding;
AATF	5	apoptotic process; nucleus; protein binding; sequence-specific DNA binding transcription factor activity; positive regulation of transcription from RNA polymerase II promoter;
BNIP3	5	apoptotic process; nucleus; protein binding; protein homodimerization activity; identical protein binding;
PRKD1	5	apoptotic process; nucleus; protein binding; positive regulation of transcription from RNA polymerase II promoter; identical protein binding;
ARRB1	5	transcription from RNA polymerase II promoter; nucleus; protein binding; positive regulation of transcription from RNA polymerase II promoter; transcription regulatory region DNA binding;
HSF2	5	transcription from RNA polymerase II promoter; nucleus; sequence-specific DNA binding transcription factor activity; positive regulation of transcription from RNA polymerase II promoter; protein homodimerization activity;
IRF7	5	transcription from RNA polymerase II promoter; nucleus; protein binding; positive regulation of transcription, DNA-dependent; positive regulation of transcription from RNA polymerase II promoter;
MEIS2	5	transcription from RNA polymerase II promoter; nucleus; protein binding; sequence-specific DNA binding transcription factor activity; positive regulation of transcription from RNA polymerase II promoter;
NCOR1	5	transcription from RNA polymerase II promoter; nucleus; protein binding; sequence-specific DNA binding transcription factor activity; transcription regulatory region DNA binding;
FOXC2	5	nucleus; sequence-specific DNA binding transcription factor activity; positive regulation of transcription, DNA-dependent; positive regulation of transcription from RNA polymerase II promoter; transcription regulatory region DNA binding;
KDM1A	5	nucleus; protein binding; sequence-specific DNA binding transcription factor activity; positive regulation of transcription from RNA polymerase II promoter; transcription regulatory region DNA binding;
MED1	5	nucleus; protein binding; positive regulation of transcription, DNA-dependent; positive regulation of transcription from RNA polymerase II promoter; embryonic hemopoiesis;
MEN1	5	nucleus; protein binding; positive regulation of transcription from RNA polymerase II promoter; transcription regulatory region DNA binding; histone methyltransferase complex;
NCOA6	5	nucleus; protein binding; positive regulation of transcription, DNA-dependent; positive regulation of transcription from RNA polymerase II promoter; histone methyltransferase complex;
SETD1A	5	nucleus; protein binding; histone H3-K4 methylation; histone methyltransferase activity (H3-K4 specific); histone methyltransferase complex;
TBX1	5	nucleus; sequence-specific DNA binding transcription factor activity; positive regulation of transcription, DNA-dependent; positive regulation of transcription from RNA polymerase II promoter; protein homodimerization activity;

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

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Region: chr11:118307205..118397539 View in gBrowse