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Fusion gene ID: 4097 |
FusionGeneSummary for BCR_UPB1 |
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Fusion gene information | Fusion gene name: BCR_UPB1 | Fusion gene ID: 4097 | Hgene | Tgene | Gene symbol | BCR | UPB1 | Gene ID | 613 | 51733 |
Gene name | BCR, RhoGEF and GTPase activating protein | beta-ureidopropionase 1 | |
Synonyms | ALL|BCR1|CML|D22S11|D22S662|PHL | BUP1 | |
Cytomap | 22q11.23 | 22q11.23 | |
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 | beta-ureidopropionasebeta-alanine synthasen-carbamoyl-beta-alanine amidohydrolaseureidopropionase, beta | |
Modification date | 20180527 | 20180523 | |
UniProtAcc | P11274 | Q9UBR1 | |
Ensembl transtripts involved in fusion gene | ENST00000305877, ENST00000359540, ENST00000398512, ENST00000436990, | ENST00000413389, ENST00000326010, ENST00000382760, ENST00000498140, | |
Fusion gene scores | * DoF score | 17 X 39 X 8=5304 | 3 X 3 X 3=27 |
# samples | 70 | 3 | |
** MAII score | log2(70/5304*10)=-2.92165394828026 possibly effective Gene in Pan-Cancer Fusion Genes (peGinPCFGs). DoF>8 and MAII<0 | log2(3/27*10)=0.15200309344505 effective Gene in Pan-Cancer Fusion Genes (eGinPCFGs). DoF>8 and MAII>0 | |
Context | PubMed: BCR [Title/Abstract] AND UPB1 [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 |
![]() (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 |
TCGA | RV | HNSC | TCGA-CX-7086-01A | BCR | chr22 | 23524426 | + | UPB1 | chr22 | 24890077 | + |
TCGA | LD | HNSC | TCGA-CX-7086-01A | BCR | chr22 | 23524426 | + | UPB1 | chr22 | 24896075 | + |
* 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 |
5CDS-5UTR | ENST00000305877 | ENST00000413389 | BCR | chr22 | 23524426 | + | UPB1 | chr22 | 24890077 | + |
5CDS-intron | ENST00000305877 | ENST00000326010 | BCR | chr22 | 23524426 | + | UPB1 | chr22 | 24890077 | + |
5CDS-intron | ENST00000305877 | ENST00000382760 | BCR | chr22 | 23524426 | + | UPB1 | chr22 | 24890077 | + |
5CDS-intron | ENST00000305877 | ENST00000498140 | BCR | chr22 | 23524426 | + | UPB1 | chr22 | 24890077 | + |
5CDS-5UTR | ENST00000359540 | ENST00000413389 | BCR | chr22 | 23524426 | + | UPB1 | chr22 | 24890077 | + |
5CDS-intron | ENST00000359540 | ENST00000326010 | BCR | chr22 | 23524426 | + | UPB1 | chr22 | 24890077 | + |
5CDS-intron | ENST00000359540 | ENST00000382760 | BCR | chr22 | 23524426 | + | UPB1 | chr22 | 24890077 | + |
5CDS-intron | ENST00000359540 | ENST00000498140 | BCR | chr22 | 23524426 | + | UPB1 | chr22 | 24890077 | + |
5CDS-5UTR | ENST00000398512 | ENST00000413389 | BCR | chr22 | 23524426 | + | UPB1 | chr22 | 24890077 | + |
5CDS-intron | ENST00000398512 | ENST00000326010 | BCR | chr22 | 23524426 | + | UPB1 | chr22 | 24890077 | + |
5CDS-intron | ENST00000398512 | ENST00000382760 | BCR | chr22 | 23524426 | + | UPB1 | chr22 | 24890077 | + |
5CDS-intron | ENST00000398512 | ENST00000498140 | BCR | chr22 | 23524426 | + | UPB1 | chr22 | 24890077 | + |
intron-5UTR | ENST00000436990 | ENST00000413389 | BCR | chr22 | 23524426 | + | UPB1 | chr22 | 24890077 | + |
intron-intron | ENST00000436990 | ENST00000326010 | BCR | chr22 | 23524426 | + | UPB1 | chr22 | 24890077 | + |
intron-intron | ENST00000436990 | ENST00000382760 | BCR | chr22 | 23524426 | + | UPB1 | chr22 | 24890077 | + |
intron-intron | ENST00000436990 | ENST00000498140 | BCR | chr22 | 23524426 | + | UPB1 | chr22 | 24890077 | + |
5CDS-intron | ENST00000305877 | ENST00000413389 | BCR | chr22 | 23524426 | + | UPB1 | chr22 | 24896075 | + |
5CDS-intron | ENST00000305877 | ENST00000326010 | BCR | chr22 | 23524426 | + | UPB1 | chr22 | 24896075 | + |
5CDS-intron | ENST00000305877 | ENST00000382760 | BCR | chr22 | 23524426 | + | UPB1 | chr22 | 24896075 | + |
5CDS-intron | ENST00000305877 | ENST00000498140 | BCR | chr22 | 23524426 | + | UPB1 | chr22 | 24896075 | + |
5CDS-intron | ENST00000359540 | ENST00000413389 | BCR | chr22 | 23524426 | + | UPB1 | chr22 | 24896075 | + |
5CDS-intron | ENST00000359540 | ENST00000326010 | BCR | chr22 | 23524426 | + | UPB1 | chr22 | 24896075 | + |
5CDS-intron | ENST00000359540 | ENST00000382760 | BCR | chr22 | 23524426 | + | UPB1 | chr22 | 24896075 | + |
5CDS-intron | ENST00000359540 | ENST00000498140 | BCR | chr22 | 23524426 | + | UPB1 | chr22 | 24896075 | + |
5CDS-intron | ENST00000398512 | ENST00000413389 | BCR | chr22 | 23524426 | + | UPB1 | chr22 | 24896075 | + |
5CDS-intron | ENST00000398512 | ENST00000326010 | BCR | chr22 | 23524426 | + | UPB1 | chr22 | 24896075 | + |
5CDS-intron | ENST00000398512 | ENST00000382760 | BCR | chr22 | 23524426 | + | UPB1 | chr22 | 24896075 | + |
5CDS-intron | ENST00000398512 | ENST00000498140 | BCR | chr22 | 23524426 | + | UPB1 | chr22 | 24896075 | + |
intron-intron | ENST00000436990 | ENST00000413389 | BCR | chr22 | 23524426 | + | UPB1 | chr22 | 24896075 | + |
intron-intron | ENST00000436990 | ENST00000326010 | BCR | chr22 | 23524426 | + | UPB1 | chr22 | 24896075 | + |
intron-intron | ENST00000436990 | ENST00000382760 | BCR | chr22 | 23524426 | + | UPB1 | chr22 | 24896075 | + |
intron-intron | ENST00000436990 | ENST00000498140 | BCR | chr22 | 23524426 | + | UPB1 | chr22 | 24896075 | + |
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FusionProtFeatures for BCR_UPB1 |
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Hgene | Tgene |
BCR | UPB1 |
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}. | Converts N-carbamoyl-beta-aminoisobutyrate and N-carbamoyl-beta-alanine (3-ureidopropanoate) to, respectively,beta-aminoisobutyrate and beta-alanine, ammonia and carbondioxide. |
![]() * 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_UPB1 |
![]() (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_UPB1 |
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Hgene | Hgene's interactors | Tgene | Tgene's interactors |
BCR | MLLT4, HCK, PTPN6, FES, RB1, ERCC3, GRB2, ABL1, GAB2, HOXA9, CRKL, KIT, PIK3CG, IGSF21, TP53, UNC119, SOS1, PXN, RAC1, CDC42, RHOA, IL3, WDR48, TSG101, VPS28, INPP5D, MYC, HSP90AA1, HSPA8, HIF1A, CRK, GABRR1, CBL, LNX1, LRRK1, GRK5, UBASH3B, PIK3R2, SHC1, AP2M1, CFTR, ERBB2IP, DOK1, PTGES3, HSPA4, HSPD1, UBC, CSNK2A2, STUB1, CCDC183, RSPH9, SEC13, NTRK1, CEP128, NINL, XPO1, PIK3R1, PDZK1, COMMD1, TULP3, JPH4, NAGK, USP15, SPAG9, MCM2, MCM4, WEE1, CSNK1A1, MCM6, TRIM25, RAD51 | UPB1 | C6orf211 |
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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_UPB1 |
![]() (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_UPB1 |
![]() (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 | UPB1 | C0004352 | Autistic Disorder | 1 | CTD_human |
Tgene | UPB1 | C0025517 | Metabolic Diseases | 1 | CTD_human |
Tgene | UPB1 | C0037769 | West Syndrome | 1 | CTD_human |
Tgene | UPB1 | C1291512 | Beta-Ureidopropionase Deficiency | 1 | CTD_human;ORPHANET;UNIPROT |