ADHDgene Database

Gene Report

Basic Info

Approved Symbol	BLMH
Symbol Alias	BH
Approved Name	bleomycin hydrolase
Location	17q11.2
Position	chr17:28575223-28619074, -
External Links	HGNC: 1059 Entrez Gene: 642 Ensembl: ENSG00000108578 UCSC: uc002hez.1
No. of Studies	0 (significant: 0; non-significant: 0; trend: 0)
Source	Mapped by CNV; Mapped by LD-proxy

Gene related studies (count: 0)

Gene related SNPs (count: 14)

rs_ID	Location	Functional Annotation
rs8069399	Chr17:28615073(Fwd)	NMD_transcript_variant; downstream_gene_variant; intron_variant; upstream_gene_variant
rs6505170	Chr17:28619370(Fwd)	upstream_gene_variant
rs16965639	Chr17:28570431(Fwd)	downstream_gene_variant; intron_variant; nc_transcript_variant
rs6505166	Chr17:28577164(Fwd)	NMD_transcript_variant; intron_variant; nc_transcript_variant; non_coding_exon_variant; upstream_gene_variant
rs8071585	Chr17:28574372(Fwd)	downstream_gene_variant; intron_variant; nc_transcript_variant; upstream_gene_variant
rs16965661	Chr17:28600626(Fwd)	NMD_transcript_variant; downstream_gene_variant; intron_variant; nc_transcript_variant; upstream_gene_variant
rs16965656	Chr17:28591750(Fwd)	NMD_transcript_variant; downstream_gene_variant; intron_variant
rs7209807	Chr17:28603194(Fwd)	NMD_transcript_variant; intron_variant; nc_transcript_variant; upstream_gene_variant
rs16965663	Chr17:28601005(Fwd)	NMD_transcript_variant; intron_variant; nc_transcript_variant; non_coding_exon_variant; upstream_gene_variant
rs6505167	Chr17:28583053(Fwd)	NMD_transcript_variant; downstream_gene_variant; intron_variant
rs1552472	Chr17:28581020(Fwd)	NMD_transcript_variant; downstream_gene_variant; intron_variant; upstream_gene_variant
rs2129785	Chr17:28590530(Fwd)	NMD_transcript_variant; downstream_gene_variant; intron_variant
rs7223487	Chr17:28588295(Fwd)	NMD_transcript_variant; intron_variant
rs11871800	Chr17:28583651(Fwd)	NMD_transcript_variant; downstream_gene_variant; intron_variant

Gene related CNVs (count: 1)

ID	Location	Size	Band	Type	Inheritance
CNV_Elia[2010]_192	chr17:25613604-26191779 (NCBI Build 35 (hg17))	578176	17q11.2	Duplication	Paternal

Gene related other variant (count: 0)

Gene related regions (count: 0)

Gene related GO terms (count: 13)

ID	Name	Type	Evidence[PMID]	No. of Genes in ADHDgene
GO:0042493	response to drug	Biological Process		68
GO:0009636	response to toxin	Biological Process		15
GO:0008234	cysteine-type peptidase activity	Molecular Function	TAS[8639621]	10
GO:0006508	proteolysis	Biological Process		102
GO:0005829	cytosol	Cellular Component		447
GO:0005737	cytoplasm	Cellular Component		690
GO:0005634	nucleus	Cellular Component		770
GO:0005515	protein binding	Molecular Function	IPI[11350084]	910
GO:0004197	cysteine-type endopeptidase activity	Molecular Function		17
GO:0004180	carboxypeptidase activity	Molecular Function	TAS[9546396]	6
GO:0004177	aminopeptidase activity	Molecular Function	TAS[9546396]	6
GO:0002474	antigen processing and presentation of peptide antigen via MHC class I	Biological Process		17
GO:0000209	protein polyubiquitination	Biological Process		23

Gene related KEGG pathways (count: 0)

Genes shared at least 5 GO terms with BLMH (count: 13)

Gene Symbol	Pathway Count	Pathway List
MALT1	6	proteolysis; cytosol; cytoplasm; nucleus; protein binding; cysteine-type endopeptidase activity;
PYCARD	6	proteolysis; cytosol; cytoplasm; nucleus; protein binding; cysteine-type endopeptidase activity;
PSMC3	6	cytosol; cytoplasm; nucleus; protein binding; antigen processing and presentation of peptide antigen via MHC class I; protein polyubiquitination;
GSK3B	5	response to drug; cytosol; cytoplasm; nucleus; protein binding;
NCF2	5	response to drug; cytosol; cytoplasm; protein binding; antigen processing and presentation of peptide antigen via MHC class I;
RELA	5	response to drug; cytosol; cytoplasm; nucleus; protein binding;
SNCA	5	response to drug; cytosol; cytoplasm; nucleus; protein binding;
TJP1	5	response to drug; cytosol; cytoplasm; nucleus; protein binding;
MAPK1	5	response to toxin; cytosol; cytoplasm; nucleus; protein binding;
PYDC1	5	proteolysis; cytosol; nucleus; protein binding; cysteine-type endopeptidase activity;
TNFAIP3	5	proteolysis; cytosol; cytoplasm; nucleus; protein binding;
UBE3A	5	proteolysis; cytosol; cytoplasm; nucleus; protein binding;
PARK2	5	cytosol; cytoplasm; nucleus; protein binding; protein polyubiquitination;

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

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Region: chr17:28575223..28619074 View in gBrowse