BLM

Summary: The Bloom syndrome gene product is related to the RecQ subset of DExH box-containing DNA helicases and has both DNA-stimulated ATPase and ATP-dependent DNA helicase activities. Mutations causing Bloom syndrome delete or alter helicase motifs and may disable the 3'-5' helicase activity. The normal protein may act to suppress inappropriate recombination. [provided by RefSeq, Jul 2008].

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Name
OMIM ID
Ensembl ID
HGNC ID
PHARMGKB ID
Map Location
NameBloom syndrome RecQ like helicase
OMIM IDMIM:604610
Ensembl IDEnsembl:ENSG00000197299
HGNC IDHGNC:HGNC:1058
PHARMGKB IDPA25369
Map Location15q26.1

GO terms in BLM


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Term Type
Evidence Type
GO Term ID
GO Des.
CC IBA GO:0000228 nuclear chromosome
CC IDA GO:0000228 nuclear chromosome
CC IBA GO:0000781 chromosome, telomeric region
CC IDA GO:0000781 chromosome, telomeric region
CC IBA GO:0000800 lateral element
CC IDA GO:0000800 lateral element
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Gene expression in normal tissue: BLM

Gene-model tissue-cancer distribution: Bubble Plot

undefinetissue: undefine cancer: undefined model num: 0undefinedtissue: undefined cancer: PANCAN model num: 57BOWEtissue: BOWE cancer: BOWEL model num: 0BOWELtissue: BOWEL cancer: undefined model num: 16SKItissue: SKI cancer: SKIN model num: 0SKINtissue: SKIN cancer: undefined model num: 8UTERUtissue: UTERU cancer: UTERUS model num: 0UTERUStissue: UTERUS cancer: Endometrial Carcinoma (UCEC) model num: 2

Gene-drug pathway distribution

undefined27Biosynthesis of secondary metabolites2Proteasome1Longevity regulating pathway1Ferroptosis1Metabolism1Cell cycle1Th17 cell differentiation1

Pathways in BLM


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Database
Pathway ID
Pathway Des.
kegg hsa03440 Homologous recombination - Homo sapiens (human)
kegg hsa03460 Fanconi anemia pathway - Homo sapiens (human)
pid atm_pathway ATM pathway
pid fanconi_pathway Fanconi anemia pathway
pid telomerasepathway Regulation of Telomerase
reactome R-HSA-1474165 Reproduction
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Gene-Drug: Aster Plot


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Drug ID
Drug Name
Model Num.
iGMDRD251 ML162 3
iGMDRD121 GMX1778 5
iGMDRD434 BMS-536924 2
iGMDRD286 Nsc 632839 5
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Gene in drug-gene network: Network Plot

Gene-drug targets distribution

Gene Structure: PDB

Models in BLM

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Model
Level
Reference ID
Tissue
Cancer
Drug
Clinical Response
Source
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