======= BLM =======


== Gene Information ==
  * **<color #00a2e8>Official Symbol</color>**: BLM
  * **<color #00a2e8>Official Name</color>**: BLM RecQ like helicase
  * **<color #00a2e8>Aliases and Previous Symbols</color>**: N/A
  * **<color #00a2e8>Entrez ID</color>**: [[https://www.ncbi.nlm.nih.gov/gene/?term=641|641]]
  * **<color #00a2e8>UniProt</color>**: [[https://www.uniprot.org/uniprot/P54132|P54132]]
  * **<color #00a2e8>Interactions</color>**: [[https://thebiogrid.org/search.php?search=BLM&organism=9606|BioGRID]]
  * **<color #00a2e8>PubMed articles</color>**: [[https://www.ncbi.nlm.nih.gov/pubmed/?term=gene%20BLM|Open PubMed]]
  * **<color #00a2e8>OMIM</color>**: [[https://omim.org/entry/604610|Open OMIM]]

== Function Summary ==
  * **<color #00a2e8>Entrez Summary</color>**:  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]. 
  * **<color #00a2e8>UniProt Summary</color>**:  ATP-dependent DNA helicase that unwinds single- and double-stranded DNA in a 3'-5' direction (PubMed:9388193, PubMed:24816114, PubMed:25901030). Participates in DNA replication and repair (PubMed:12019152, PubMed:21325134, PubMed:23509288). Involved in 5'-end resection of DNA during double-strand break (DSB) repair: unwinds DNA and recruits DNA2 which mediates the cleavage of 5'-ssDNA (PubMed:21325134). Negatively regulates sister chromatid exchange (SCE) (PubMed:25901030). Stimulates DNA 4-way junction branch migration and DNA Holliday junction dissolution (PubMed:25901030). Binds single-stranded DNA (ssDNA), forked duplex DNA and DNA Holliday junction (PubMed:20639533, PubMed:24257077, PubMed:25901030). {ECO:0000269|PubMed:12019152, ECO:0000269|PubMed:20639533, ECO:0000269|PubMed:21325134, ECO:0000269|PubMed:23509288, ECO:0000269|PubMed:24257077, ECO:0000269|PubMed:24816114, ECO:0000269|PubMed:25901030, ECO:0000269|PubMed:9388193}.

<button type='primary' size='sm' modal='Pfam_Domains'>Pfam Domains</button>
<button type='primary' size='sm' modal='GO_terms'>GO Terms</button>


<modal id='Pfam_Domains' size='lg' title='Pfam Domains'>
|DEAD|
|BDHCT|
|RQC|
|Helicase C|
|HRDC|
</modal>

<modal id='GO_terms' size='lg' title='GO Terms'>
|forked DNA-dependent helicase activity|
|telomeric G-quadruplex DNA binding|
|8-hydroxy-2-deoxyguanosine DNA binding|
|cellular response to camptothecin|
|telomeric D-loop binding|
|Y-form DNA binding|
|response to camptothecin|
|four-way junction helicase activity|
|annealing helicase activity|
|G-quadruplex DNA unwinding|
|DNA strand renaturation|
|telomeric D-loop disassembly|
|bubble DNA binding|
|G-quadruplex DNA binding|
|replication fork protection|
|telomere maintenance via telomere trimming|
|t-circle formation|
|formation of extrachromosomal circular DNA|
|cellular response to hydroxyurea|
|response to hydroxyurea|
|telomeric loop disassembly|
|lateral element|
|DNA unwinding involved in DNA replication|
|four-way junction DNA binding|
|response to antimetabolite|
|negative regulation of cell division|
|3-5 DNA helicase activity|
|mitotic G2 DNA damage checkpoint|
|DNA double-strand break processing|
|negative regulation of DNA-dependent DNA replication|
|replication fork|
|nuclear chromosome|
|mitotic G2/M transition checkpoint|
|G2 DNA damage checkpoint|
|response to X-ray|
|replication fork processing|
|helicase activity|
|cellular response to alkaloid|
|DNA-dependent DNA replication maintenance of fidelity|
|negative regulation of DNA replication|
|DNA-dependent ATPase activity|
|negative regulation of DNA recombination|
|chromosome, telomeric region|
|regulation of DNA-dependent DNA replication|
|DNA helicase activity|
|p53 binding|
|cellular response to ionizing radiation|
|cellular response to alcohol|
|negative regulation of G2/M transition of mitotic cell cycle|
|response to antineoplastic agent|
|mitotic DNA damage checkpoint|
|double-strand break repair via homologous recombination|
|regulation of cyclin-dependent protein serine/threonine kinase activity|
|recombinational repair|
|telomere maintenance|
|PML body|
|negative regulation of cell cycle G2/M phase transition|
|telomere organization|
|regulation of cyclin-dependent protein kinase activity|
|regulation of DNA recombination|
|mitotic DNA integrity checkpoint|
|single-stranded DNA binding|
|regulation of DNA replication|
|nuclear matrix|
|DNA duplex unwinding|
|response to alkaloid|
|DNA geometric change|
|DNA-dependent DNA replication|
|negative regulation of DNA metabolic process|
|chromosome|
|DNA damage checkpoint|
|DNA integrity checkpoint|
|response to ionizing radiation|
|mitotic cell cycle checkpoint|
|regulation of cell division|
|cellular response to radiation|
|regulation of signal transduction by p53 class mediator|
|double-strand break repair|
|cell cycle checkpoint|
|regulation of G2/M transition of mitotic cell cycle|
|regulation of cell cycle G2/M phase transition|
|negative regulation of mitotic cell cycle phase transition|
|DNA replication|
|cellular response to inorganic substance|
|DNA recombination|
|negative regulation of cell cycle phase transition|
|response to alcohol|
|ATPase activity|
|DNA conformation change|
|negative regulation of mitotic cell cycle|
|cellular response to abiotic stimulus|
|cellular response to environmental stimulus|
|negative regulation of cell cycle process|
|protein homooligomerization|
|anatomical structure homeostasis|
|regulation of DNA metabolic process|
|cellular response to drug|
|regulation of mitotic cell cycle phase transition|
|response to radiation|
|regulation of cell cycle phase transition|
|DNA repair|
|regulation of protein serine/threonine kinase activity|
|protein complex oligomerization|
|response to inorganic substance|
|cellular response to organic cyclic compound|
|negative regulation of cell cycle|
|mitotic cell cycle process|
|cellular response to organonitrogen compound|
|regulation of mitotic cell cycle|
|cellular response to nitrogen compound|
|mitotic cell cycle|
|DNA metabolic process|
|regulation of cell cycle process|
|cellular response to DNA damage stimulus|
|regulation of protein kinase activity|
|zinc ion binding|
|nucleolus|
|regulation of kinase activity|
|protein homodimerization activity|
|response to organic cyclic compound|
|regulation of transferase activity|
|cell cycle process|
|response to organonitrogen compound|
|response to drug|
|cellular response to oxygen-containing compound|
|chromosome organization|
|response to nitrogen compound|
|response to abiotic stimulus|
|regulation of cell cycle|
|cellular response to endogenous stimulus|
|cell cycle|
|negative regulation of cellular macromolecule biosynthetic process|
|negative regulation of nucleobase-containing compound metabolic process|
|regulation of protein phosphorylation|
|DNA binding|
|negative regulation of macromolecule biosynthetic process|
|response to endogenous stimulus|
|ATP binding|
|negative regulation of cellular biosynthetic process|
|positive regulation of transcription, DNA-templated|
|negative regulation of biosynthetic process|
|response to oxygen-containing compound|
|protein-containing complex assembly|
|regulation of phosphorylation|
|positive regulation of nucleic acid-templated transcription|
|positive regulation of RNA biosynthetic process|
|homeostatic process|
|cellular response to stress|
|cellular macromolecule biosynthetic process|
|positive regulation of RNA metabolic process|
|macromolecule biosynthetic process|
|regulation of phosphate metabolic process|
|regulation of phosphorus metabolic process|
|regulation of intracellular signal transduction|
|regulation of protein modification process|
|protein-containing complex subunit organization|
|positive regulation of nucleobase-containing compound metabolic process|
|positive regulation of macromolecule biosynthetic process|
|positive regulation of cellular biosynthetic process|
|positive regulation of gene expression|
|positive regulation of biosynthetic process|
</modal>
\\

 === CRISPR Data ===
<button type='primary' size='small' modal='Compound_Hit'>Compound Hit</button>
<button type='primary' size='small' modal='Most_Correlated_Genes'>Most Correlated Genes in Chemogenomics</button>
<button type='primary' size='small' modal='Essential_Avana'>Tissues where Essential in the Avana Dataset (DepMap 20Q1)</button>

<modal id='Compound_Hit' size='lg' title='Compound Hit'>
^Screen^Score^
|[[:results:exp518|RK-33 8μM R08 exp518]]|1.7|
|[[:results:exp215|Colchicine 0.009μM R05 exp215]]|1.78|
|[[:results:exp520|Rucaparib 6.5μM R08 exp520]]|2.04|
|[[:results:exp300|VE-822 0.04μM R06 exp300]]|2.39|
|[[:results:exp503|Mitomycin-C 0.06μM R08 exp503]]|2.72|
|[[:results:exp512|Olaparib 4μM R08 exp512]]|2.83|
|[[:results:exp354|Diepoxybutane 3μM R07 exp354]]|6.22|
|[[:results:exp294|Nutlin-3A 1.6μM R06 exp294]]|7|
|[[:results:exp299|Talazoparib 0.006μM R06 exp299]]|7.65|
</modal>

<modal id='Most_Correlated_Genes' size='lg' title='Most Correlated Genes in Chemogenomics'>
^Gene^Correlation^
|[[:human genes:r:rmi1|RMI1]]|0.775|
|[[:human genes:r:rmi2|RMI2]]|0.727|
|[[:human genes:p:pml|PML]]|0.617|
|[[:human genes:t:top3a|TOP3A]]|0.547|
|[[:human genes:r:rrm1|RRM1]]|0.486|
|[[:human genes:s:slfn11|SLFN11]]|0.417|
</modal>

<modal id='Essential_Avana' size='lg' title='Tissues where Essential in the Avana Dataset (DepMap 20Q1)'>
Global Fraction of Cell Lines Where Essential: 0/739
^Tissue^Fraction Of Cell Lines Where Essential^
|1290807.0|0/1|
|909776.0|0/1|
|bile duct|0/28|
|blood|0/28|
|bone|0/26|
|breast|0/33|
|central nervous system|0/56|
|cervix|0/4|
|colorectal|0/17|
|esophagus|0/13|
|fibroblast|0/1|
|gastric|0/16|
|kidney|0/21|
|liver|0/20|
|lung|0/75|
|lymphocyte|0/16|
|ovary|0/26|
|pancreas|0/24|
|peripheral nervous system|0/16|
|plasma cell|0/15|
|prostate|0/1|
|skin|0/24|
|soft tissue|0/9|
|thyroid|0/2|
|upper aerodigestive|0/22|
|urinary tract|0/29|
|uterus|0/5|
</modal>

== Essentiality in NALM6  ==
    * **<color #00a2e8>Essentiality Rank</color>**: 2477
    * **<color #00a2e8>Expression level (log2 read counts)</color>**: 6.89 
<button type='primary' size='small' modal='Dist_expr'>Expression Distribution</button>
<modal id='Dist_expr' size='lg' title='BLM Expression in NALM6 Cells: 6.89'>
{{:chemogenomics:nalm6 dist.png?nolink |}}
</modal>