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Fusion gene ID: 4091 |
FusionGeneSummary for BCR_MTHFS |
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Fusion gene information | Fusion gene name: BCR_MTHFS | Fusion gene ID: 4091 | Hgene | Tgene | Gene symbol | BCR | MTHFS | Gene ID | 613 | 10588 |
Gene name | BCR, RhoGEF and GTPase activating protein | methenyltetrahydrofolate synthetase | |
Synonyms | ALL|BCR1|CML|D22S11|D22S662|PHL | HsT19268 | |
Cytomap | 22q11.23 | 15q25.1 | |
Type of gene | protein-coding | protein-coding | |
Description | breakpoint cluster region proteinBCR/FGFR1 chimera proteinFGFR1/BCR chimera proteinbreakpoint cluster regionrenal carcinoma antigen NY-REN-26 | 5-formyltetrahydrofolate cyclo-ligase5,10-methenyltetrahydrofolate synthetase (5-formyltetrahydrofolate cyclo-ligase)methenyl-THF synthetase | |
Modification date | 20180527 | 20180523 | |
UniProtAcc | P11274 | P49914 | |
Ensembl transtripts involved in fusion gene | ENST00000305877, ENST00000359540, ENST00000398512, ENST00000436990, | ENST00000258874, ENST00000559722, | |
Fusion gene scores | * DoF score | 17 X 39 X 8=5304 | 1 X 1 X 1=1 |
# samples | 70 | 1 | |
** MAII score | log2(70/5304*10)=-2.92165394828026 possibly effective Gene in Pan-Cancer Fusion Genes (peGinPCFGs). DoF>8 and MAII<0 | log2(1/1*10)=3.32192809488736 | |
Context | PubMed: BCR [Title/Abstract] AND MTHFS [Title/Abstract] AND fusion [Title/Abstract] | ||
Functional or gene categories assigned by FusionGDB annotation |
* 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 |
Tgene | MTHFS | GO:0046653 | tetrahydrofolate metabolic process | 7766710|19738041 |
![]() (ChiTars (NAR, 2018), tumorfusions (NAR, 2018), Gao et al. (Cell, 2018)) * 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. |
Data type | Source | Cancer type | Sample | Hgene | Hchr | Hbp | Hstrand | Tgene | Tchr | Tbp | Tstrand |
ChiTaRS3.1 | BF947729 | BCR | chr22 | 23524010 | - | MTHFS | chr15 | 80181535 | + |
* LD: Li Ding group's fusion gene list RV: Roel Verhaak group's fusion gene list ChiTaRs fusion database |
![]() * 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 |
Frame-shift | ENST00000305877 | ENST00000258874 | BCR | chr22 | 23524010 | - | MTHFS | chr15 | 80181535 | + |
5CDS-5UTR | ENST00000305877 | ENST00000559722 | BCR | chr22 | 23524010 | - | MTHFS | chr15 | 80181535 | + |
Frame-shift | ENST00000359540 | ENST00000258874 | BCR | chr22 | 23524010 | - | MTHFS | chr15 | 80181535 | + |
5CDS-5UTR | ENST00000359540 | ENST00000559722 | BCR | chr22 | 23524010 | - | MTHFS | chr15 | 80181535 | + |
Frame-shift | ENST00000398512 | ENST00000258874 | BCR | chr22 | 23524010 | - | MTHFS | chr15 | 80181535 | + |
5CDS-5UTR | ENST00000398512 | ENST00000559722 | BCR | chr22 | 23524010 | - | MTHFS | chr15 | 80181535 | + |
intron-3CDS | ENST00000436990 | ENST00000258874 | BCR | chr22 | 23524010 | - | MTHFS | chr15 | 80181535 | + |
intron-5UTR | ENST00000436990 | ENST00000559722 | BCR | chr22 | 23524010 | - | MTHFS | chr15 | 80181535 | + |
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FusionProtFeatures for BCR_MTHFS |
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Hgene | Tgene |
BCR | MTHFS |
GTPase-activating protein for RAC1 and CDC42. Promotesthe exchange of RAC or CDC42-bound GDP by GTP, thereby activatingthem. Displays serine/threonine kinase activity.{ECO:0000269|PubMed:1657398, ECO:0000269|PubMed:1903516}. | Contributes to tetrahydrofolate metabolism. Helpsregulate carbon flow through the folate-dependent one-carbonmetabolic network that supplies carbon for the biosynthesis ofpurines, thymidine and amino acids. Catalyzes the irreversibleconversion of 5-formyltetrahydrofolate (5-FTHF) to yield 5,10-methenyltetrahydrofolate. {ECO:0000269|PubMed:8522195}. |
![]() * 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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FusionGeneSequence for BCR_MTHFS |
![]() (nt: nucleotides, aa: amino acids) |
* Fusion amino acid sequences. |
* Fusion transcript sequences (only coding sequence (CDS) region). |
* Fusion transcript sequences (Full-length transcript). |
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FusionGenePPI for BCR_MTHFS |
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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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RelatedDrugs for BCR_MTHFS |
![]() (DrugBank Version 5.1.0 2018-04-02) |
Partner | Gene | UniProtAcc | DrugBank ID | Drug name | Drug activity | Drug type | Drug status |
Hgene | BCR | P11274 | DB06616 | Bosutinib | Breakpoint cluster region protein | small molecule | approved |
Hgene | BCR | P11274 | DB01254 | Dasatinib | Breakpoint cluster region protein | small molecule | approved|investigational |
Hgene | BCR | P11274 | DB08901 | Ponatinib | Breakpoint cluster region protein | small molecule | approved|investigational |
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RelatedDiseases for BCR_MTHFS |
![]() (DisGeNet 4.0) |
Partner | Gene | Disease ID | Disease name | # pubmeds | Source |
Hgene | BCR | C0005586 | Bipolar Disorder | 4 | PSYGENET |
Hgene | BCR | C0023473 | Myeloid Leukemia, Chronic | 3 | CTD_human;HPO;ORPHANET |
Hgene | BCR | C0005699 | Blast Phase | 1 | CTD_human |
Hgene | BCR | C0023893 | Liver Cirrhosis, Experimental | 1 | CTD_human |
Hgene | BCR | C0027022 | Myeloproliferative disease | 1 | CTD_human;HPO |
Hgene | BCR | C0027540 | Necrosis | 1 | CTD_human |
Hgene | BCR | C0027659 | Neoplasms, Experimental | 1 | CTD_human |
Hgene | BCR | C0041696 | Unipolar Depression | 1 | PSYGENET |
Hgene | BCR | C1269683 | Major Depressive Disorder | 1 | PSYGENET |
Tgene | MTHFS | C0008924 | Cleft Lip | 1 | CTD_human |
Tgene | MTHFS | C0008925 | Cleft Palate | 1 | CTD_human |