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![]() | Fusion Gene Summary |
![]() | Fusion Gene ORF analysis |
![]() | Fusion Genomic Features |
![]() | Fusion Protein Features |
![]() | Fusion Gene Sequence |
![]() | Fusion Gene PPI analysis |
![]() | Related Drugs |
![]() | Related Diseases |
Fusion gene:BLM-ZNF592 (FusionGDB2 ID:HG641TG9640) |
Fusion Gene Summary for BLM-ZNF592 |
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Fusion gene information | Fusion gene name: BLM-ZNF592 | Fusion gene ID: hg641tg9640 | Hgene | Tgene | Gene symbol | BLM | ZNF592 | Gene ID | 641 | 9640 |
Gene name | BLM RecQ like helicase | zinc finger protein 592 | |
Synonyms | BS|MGRISCE1|RECQ2|RECQL2|RECQL3 | CAMOS|SCAR5 | |
Cytomap | ('BLM')('ZNF592') 15q26.1 | 15q25.3 | |
Type of gene | protein-coding | protein-coding | |
Description | Bloom syndrome proteinBloom syndrome RecQ like helicaseBloom syndrome, RecQ helicase-likeDNA helicase, RecQ-like type 2recQ protein-like 3 | zinc finger protein 592 | |
Modification date | 20200313 | 20200313 | |
UniProtAcc | . | . | |
Ensembl transtripts involved in fusion gene | ENST00000560136, ENST00000355112, ENST00000560509, | ||
Fusion gene scores | * DoF score | 7 X 7 X 2=98 | 5 X 5 X 3=75 |
# samples | 8 | 5 | |
** MAII score | log2(8/98*10)=-0.292781749227846 possibly effective Gene in Pan-Cancer Fusion Genes (peGinPCFGs). DoF>8 and MAII<0 | log2(5/75*10)=-0.584962500721156 possibly effective Gene in Pan-Cancer Fusion Genes (peGinPCFGs). DoF>8 and MAII<0 | |
Context | PubMed: BLM [Title/Abstract] AND ZNF592 [Title/Abstract] AND fusion [Title/Abstract] | ||
Most frequent breakpoint | BLM(91310253)-ZNF592(85307937), # samples:1 | ||
Anticipated loss of major functional domain due to fusion event. |
* DoF score (Degree of Frequency) = # partners X # break points X # cancer types ** MAII score (Major Active Isofusion Index) = log2(# samples/DoF score*10) |
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Partner | Gene | GO ID | GO term | PubMed ID |
Hgene | BLM | GO:0000729 | DNA double-strand break processing | 21325134 |
Hgene | BLM | GO:0006974 | cellular response to DNA damage stimulus | 23509288 |
Hgene | BLM | GO:0007095 | mitotic G2 DNA damage checkpoint | 11309417 |
Hgene | BLM | GO:0010165 | response to X-ray | 11309417 |
Hgene | BLM | GO:0031297 | replication fork processing | 17115688 |
Hgene | BLM | GO:0032508 | DNA duplex unwinding | 11735402|24816114|25901030 |
Hgene | BLM | GO:0044806 | G-quadruplex DNA unwinding | 11735402 |
Hgene | BLM | GO:0045893 | positive regulation of transcription, DNA-templated | 11781842 |
Hgene | BLM | GO:0051259 | protein complex oligomerization | 28228481 |
Hgene | BLM | GO:0051260 | protein homooligomerization | 28228481 |
Hgene | BLM | GO:0061820 | telomeric D-loop disassembly | 19734539 |
Hgene | BLM | GO:0071479 | cellular response to ionizing radiation | 23509288 |
Hgene | BLM | GO:0072711 | cellular response to hydroxyurea | 23509288 |
Hgene | BLM | GO:0072757 | cellular response to camptothecin | 23509288 |
![]() * All genome coordinats were lifted-over on hg19. * Click on the break point to see the gene structure around the break point region using the UCSC Genome Browser. |
Source | Disease | Sample | Hgene | Hchr | Hbp | Hstrand | Tgene | Tchr | Tbp | Tstrand |
ChimerDB4 | STAD | TCGA-CD-8528 | BLM | chr15 | 91310253 | + | ZNF592 | chr15 | 85307937 | + |
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Fusion Gene ORF analysis for BLM-ZNF592 |
![]() * Click on the break point to see the gene structure around the break point region using the UCSC Genome Browser. |
ORF | Henst | Tenst | Hgene | Hchr | Hbp | Hstrand | Tgene | Tchr | Tbp | Tstrand |
3UTR-5UTR | ENST00000560136 | ENST00000560079 | BLM | chr15 | 91310253 | + | ZNF592 | chr15 | 85307937 | + |
3UTR-intron | ENST00000560136 | ENST00000299927 | BLM | chr15 | 91310253 | + | ZNF592 | chr15 | 85307937 | + |
5CDS-5UTR | ENST00000355112 | ENST00000560079 | BLM | chr15 | 91310253 | + | ZNF592 | chr15 | 85307937 | + |
5CDS-5UTR | ENST00000560509 | ENST00000560079 | BLM | chr15 | 91310253 | + | ZNF592 | chr15 | 85307937 | + |
5CDS-intron | ENST00000355112 | ENST00000299927 | BLM | chr15 | 91310253 | + | ZNF592 | chr15 | 85307937 | + |
5CDS-intron | ENST00000560509 | ENST00000299927 | BLM | chr15 | 91310253 | + | ZNF592 | chr15 | 85307937 | + |
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Henst | Tenst | Hgene | Hchr | Hbp | Hstrand | Tgene | Tchr | Tbp | Tstrand | Seq length (transcript) | BP loci (transcript) | Predicted start (transcript) | Predicted stop (transcript) | Seq length (amino acids) |
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Henst | Tenst | Hgene | Hchr | Hbp | Hstrand | Tgene | Tchr | Tbp | Tstrand | No-coding score | Coding score |
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Fusion Genomic Features for BLM-ZNF592 |
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Hgene | Hchr | Hbp | Hstrand | Tgene | Tchr | Tbp | Tstrand | 1-p | p (fusion gene breakpoint) |
BLM | chr15 | 91310253 | + | ZNF592 | chr15 | 85307937 | + | 0.000210521 | 0.99978954 |
BLM | chr15 | 91310253 | + | ZNF592 | chr15 | 85307937 | + | 0.000210521 | 0.99978954 |
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Fusion Protein Features for BLM-ZNF592 |
![]() Go to FGviewer search page for the most frequent breakpoint (https://ccsmweb.uth.edu/FGviewer/:91310253/:85307937) - FGviewer provides the online visualization of the retention search of the protein functional features across DNA, RNA, protein, and pathological levels. - How to search 1. Put your fusion gene symbol. 2. Press the tab key until there will be shown the breakpoint information filled. 4. Go down and press 'Search' tab twice. 4. Go down to have the hyperlink of the search result. 5. Click the hyperlink. 6. See the FGviewer result for your fusion gene. |
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Hgene | Tgene |
. | . |
FUNCTION: Transcriptional activator which is required for calcium-dependent dendritic growth and branching in cortical neurons. Recruits CREB-binding protein (CREBBP) to nuclear bodies. Component of the CREST-BRG1 complex, a multiprotein complex that regulates promoter activation by orchestrating a calcium-dependent release of a repressor complex and a recruitment of an activator complex. In resting neurons, transcription of the c-FOS promoter is inhibited by BRG1-dependent recruitment of a phospho-RB1-HDAC1 repressor complex. Upon calcium influx, RB1 is dephosphorylated by calcineurin, which leads to release of the repressor complex. At the same time, there is increased recruitment of CREBBP to the promoter by a CREST-dependent mechanism, which leads to transcriptional activation. The CREST-BRG1 complex also binds to the NR2B promoter, and activity-dependent induction of NR2B expression involves a release of HDAC1 and recruitment of CREBBP (By similarity). {ECO:0000250}. | FUNCTION: Transcriptional activator which is required for calcium-dependent dendritic growth and branching in cortical neurons. Recruits CREB-binding protein (CREBBP) to nuclear bodies. Component of the CREST-BRG1 complex, a multiprotein complex that regulates promoter activation by orchestrating a calcium-dependent release of a repressor complex and a recruitment of an activator complex. In resting neurons, transcription of the c-FOS promoter is inhibited by BRG1-dependent recruitment of a phospho-RB1-HDAC1 repressor complex. Upon calcium influx, RB1 is dephosphorylated by calcineurin, which leads to release of the repressor complex. At the same time, there is increased recruitment of CREBBP to the promoter by a CREST-dependent mechanism, which leads to transcriptional activation. The CREST-BRG1 complex also binds to the NR2B promoter, and activity-dependent induction of NR2B expression involves a release of HDAC1 and recruitment of CREBBP (By similarity). {ECO:0000250}. |
![]() * Minus value of BPloci means that the break pointn is located before the CDS. |
- In-frame and retained protein feature among the 13 regional features. |
Partner | Gene | Hbp | Tbp | ENST | Strand | BPexon | TotalExon | Protein feature loci | *BPloci | TotalLen | Protein feature | Protein feature note |
- In-frame and not-retained protein feature among the 13 regional features. |
Partner | Gene | Hbp | Tbp | ENST | Strand | BPexon | TotalExon | Protein feature loci | *BPloci | TotalLen | Protein feature | Protein feature note |
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Fusion Gene Sequence for BLM-ZNF592 |
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Fusion Gene PPI Analysis for BLM-ZNF592 |
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Hgene | Hgene's interactors | Tgene | Tgene's interactors |
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Partner | Gene | Hbp | Tbp | ENST | Strand | BPexon | TotalExon | Protein feature loci | *BPloci | TotalLen | Still interaction with |
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Partner | Gene | Hbp | Tbp | ENST | Strand | BPexon | TotalExon | Protein feature loci | *BPloci | TotalLen | Interaction lost with |
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Partner | Gene | Hbp | Tbp | ENST | Strand | BPexon | TotalExon | Protein feature loci | *BPloci | TotalLen | Interaction lost with |
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Related Drugs for BLM-ZNF592 |
![]() (DrugBank Version 5.1.8 2021-05-08) |
Partner | Gene | UniProtAcc | DrugBank ID | Drug name | Drug activity | Drug type | Drug status |
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Related Diseases for BLM-ZNF592 |
![]() (DisGeNet 4.0) |
Partner | Gene | Disease ID | Disease name | # pubmeds | Source |
Hgene | BLM | C0005859 | Bloom Syndrome | 10 | CLINGEN;CTD_human;GENOMICS_ENGLAND;UNIPROT |
Hgene | BLM | C0007097 | Carcinoma | 1 | GENOMICS_ENGLAND |
Hgene | BLM | C0021051 | Immunologic Deficiency Syndromes | 1 | GENOMICS_ENGLAND |
Hgene | BLM | C0023418 | leukemia | 1 | CGI;GENOMICS_ENGLAND |
Hgene | BLM | C0023449 | Acute lymphocytic leukemia | 1 | GENOMICS_ENGLAND |
Hgene | BLM | C0023465 | Acute monocytic leukemia | 1 | GENOMICS_ENGLAND |
Hgene | BLM | C0023467 | Leukemia, Myelocytic, Acute | 1 | GENOMICS_ENGLAND |
Hgene | BLM | C0024299 | Lymphoma | 1 | CGI;GENOMICS_ENGLAND |
Hgene | BLM | C0265219 | Miller Dieker syndrome | 1 | GENOMICS_ENGLAND |
Hgene | BLM | C1961102 | Precursor Cell Lymphoblastic Leukemia Lymphoma | 1 | GENOMICS_ENGLAND |
Hgene | BLM | C3463824 | MYELODYSPLASTIC SYNDROME | 1 | GENOMICS_ENGLAND |
Tgene | C1847114 | SPINOCEREBELLAR ATAXIA, AUTOSOMAL RECESSIVE 5 | 2 | CTD_human;GENOMICS_ENGLAND;ORPHANET | |
Tgene | C0005586 | Bipolar Disorder | 1 | CTD_human | |
Tgene | C0005587 | Depression, Bipolar | 1 | CTD_human | |
Tgene | C0024713 | Manic Disorder | 1 | CTD_human | |
Tgene | C0338831 | Manic | 1 | CTD_human |