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Center for Computational Systems Medicine
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FusionGeneSummary

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FusionProtFeature

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FusionGeneSequence

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FusionGenePPI

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RelatedDrugs

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RelatedDiseases

Fusion gene ID: 4097

FusionGeneSummary for BCR_UPB1

check button Fusion gene summary
Fusion gene informationFusion gene name: BCR_UPB1
Fusion gene ID: 4097
HgeneTgene
Gene symbol

BCR

UPB1

Gene ID

613

51733

Gene nameBCR, RhoGEF and GTPase activating proteinbeta-ureidopropionase 1
SynonymsALL|BCR1|CML|D22S11|D22S662|PHLBUP1
Cytomap

22q11.23

22q11.23

Type of geneprotein-codingprotein-coding
Descriptionbreakpoint cluster region proteinBCR/FGFR1 chimera proteinFGFR1/BCR chimera proteinbreakpoint cluster regionrenal carcinoma antigen NY-REN-26beta-ureidopropionasebeta-alanine synthasen-carbamoyl-beta-alanine amidohydrolaseureidopropionase, beta
Modification date2018052720180523
UniProtAcc

P11274

Q9UBR1

Ensembl transtripts involved in fusion geneENST00000305877, ENST00000359540, 
ENST00000398512, ENST00000436990, 
ENST00000413389, ENST00000326010, 
ENST00000382760, ENST00000498140, 
Fusion gene scores* DoF score17 X 39 X 8=53043 X 3 X 3=27
# samples 703
** MAII scorelog2(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)

check button Gene ontology of each fusion partner gene with evidence of Inferred from Direct Assay (IDA) from Entrez
PartnerGeneGO IDGO termPubMed ID

check button Fusion gene information from three resources
(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 typeSourceCancer typeSampleHgeneHchrHbpHstrandTgeneTchrTbpTstrand
TCGARVHNSCTCGA-CX-7086-01ABCRchr22

23524426

+UPB1chr22

24890077

+
TCGALDHNSCTCGA-CX-7086-01ABCRchr22

23524426

+UPB1chr22

24896075

+
* LD: Li Ding group's fusion gene list
  RV: Roel Verhaak group's fusion gene list
  ChiTaRs fusion database

check button Open reading frame (ORF) analsis of fusion genes based on Ensembl gene isoform structure.
* Click on the break point to see the gene structure around the break point region using the UCSC Genome Browser.
ORFHenstTenstHgeneHchrHbpHstrandTgeneTchrTbpTstrand
5CDS-5UTRENST00000305877ENST00000413389BCRchr22

23524426

+UPB1chr22

24890077

+
5CDS-intronENST00000305877ENST00000326010BCRchr22

23524426

+UPB1chr22

24890077

+
5CDS-intronENST00000305877ENST00000382760BCRchr22

23524426

+UPB1chr22

24890077

+
5CDS-intronENST00000305877ENST00000498140BCRchr22

23524426

+UPB1chr22

24890077

+
5CDS-5UTRENST00000359540ENST00000413389BCRchr22

23524426

+UPB1chr22

24890077

+
5CDS-intronENST00000359540ENST00000326010BCRchr22

23524426

+UPB1chr22

24890077

+
5CDS-intronENST00000359540ENST00000382760BCRchr22

23524426

+UPB1chr22

24890077

+
5CDS-intronENST00000359540ENST00000498140BCRchr22

23524426

+UPB1chr22

24890077

+
5CDS-5UTRENST00000398512ENST00000413389BCRchr22

23524426

+UPB1chr22

24890077

+
5CDS-intronENST00000398512ENST00000326010BCRchr22

23524426

+UPB1chr22

24890077

+
5CDS-intronENST00000398512ENST00000382760BCRchr22

23524426

+UPB1chr22

24890077

+
5CDS-intronENST00000398512ENST00000498140BCRchr22

23524426

+UPB1chr22

24890077

+
intron-5UTRENST00000436990ENST00000413389BCRchr22

23524426

+UPB1chr22

24890077

+
intron-intronENST00000436990ENST00000326010BCRchr22

23524426

+UPB1chr22

24890077

+
intron-intronENST00000436990ENST00000382760BCRchr22

23524426

+UPB1chr22

24890077

+
intron-intronENST00000436990ENST00000498140BCRchr22

23524426

+UPB1chr22

24890077

+
5CDS-intronENST00000305877ENST00000413389BCRchr22

23524426

+UPB1chr22

24896075

+
5CDS-intronENST00000305877ENST00000326010BCRchr22

23524426

+UPB1chr22

24896075

+
5CDS-intronENST00000305877ENST00000382760BCRchr22

23524426

+UPB1chr22

24896075

+
5CDS-intronENST00000305877ENST00000498140BCRchr22

23524426

+UPB1chr22

24896075

+
5CDS-intronENST00000359540ENST00000413389BCRchr22

23524426

+UPB1chr22

24896075

+
5CDS-intronENST00000359540ENST00000326010BCRchr22

23524426

+UPB1chr22

24896075

+
5CDS-intronENST00000359540ENST00000382760BCRchr22

23524426

+UPB1chr22

24896075

+
5CDS-intronENST00000359540ENST00000498140BCRchr22

23524426

+UPB1chr22

24896075

+
5CDS-intronENST00000398512ENST00000413389BCRchr22

23524426

+UPB1chr22

24896075

+
5CDS-intronENST00000398512ENST00000326010BCRchr22

23524426

+UPB1chr22

24896075

+
5CDS-intronENST00000398512ENST00000382760BCRchr22

23524426

+UPB1chr22

24896075

+
5CDS-intronENST00000398512ENST00000498140BCRchr22

23524426

+UPB1chr22

24896075

+
intron-intronENST00000436990ENST00000413389BCRchr22

23524426

+UPB1chr22

24896075

+
intron-intronENST00000436990ENST00000326010BCRchr22

23524426

+UPB1chr22

24896075

+
intron-intronENST00000436990ENST00000382760BCRchr22

23524426

+UPB1chr22

24896075

+
intron-intronENST00000436990ENST00000498140BCRchr22

23524426

+UPB1chr22

24896075

+

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FusionProtFeatures for BCR_UPB1


check buttonMain function of each fusion partner protein. (from UniProt)
HgeneTgene
BCR

P11274

UPB1

Q9UBR1

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.

check buttonRetention analysis result of each fusion partner protein across 39 protein features of UniProt such as six molecule processing features, 13 region features, four site features, six amino acid modification features, two natural variation features, five experimental info features, and 3 secondary structure features. Here, because of limited space for viewing, we only show the protein feature retention information belong to the 13 regional features. All retention annotation result can be downloaded at

download page

.

* 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.
PartnerGeneHbpTbpENSTStrandBPexonTotalExonProtein feature loci*BPlociTotalLenProtein featureProtein feature note

- In-frame and not-retained protein feature among the 13 regional features.
PartnerGeneHbpTbpENSTStrandBPexonTotalExonProtein feature loci*BPlociTotalLenProtein featureProtein feature note


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FusionGeneSequence for BCR_UPB1


check button For in-frame fusion transcripts, we provide the fusion transcript sequences and fusion amino acid sequences.
(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


check button Go to ChiPPI (Chimeric Protein-Protein interactions) to see the chimeric PPI interaction in

ChiPPI page

.

check button Protein-protein interactors with each fusion partner protein in wild-type (BIOGRID-3.4.160)
HgeneHgene's interactorsTgeneTgene's interactors
BCRMLLT4, 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, RAD51UPB1C6orf211


check button - Retained PPIs in in-frame fusion.
PartnerGeneHbpTbpENSTStrandBPexonTotalExonProtein feature loci*BPlociTotalLenStill interaction with


check button - Lost PPIs in in-frame fusion.
PartnerGeneHbpTbpENSTStrandBPexonTotalExonProtein feature loci*BPlociTotalLenInteraction lost with


check button - Retained PPIs, but lost function due to frame-shift fusion.
PartnerGeneHbpTbpENSTStrandBPexonTotalExonProtein feature loci*BPlociTotalLenInteraction lost with


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RelatedDrugs for BCR_UPB1


check button Drugs targeting genes involved in this fusion gene.
(DrugBank Version 5.1.0 2018-04-02)
PartnerGeneUniProtAccDrugBank IDDrug nameDrug activityDrug typeDrug status
HgeneBCRP11274DB06616BosutinibBreakpoint cluster region proteinsmall moleculeapproved
HgeneBCRP11274DB01254DasatinibBreakpoint cluster region proteinsmall moleculeapproved|investigational
HgeneBCRP11274DB08901PonatinibBreakpoint cluster region proteinsmall moleculeapproved|investigational

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RelatedDiseases for BCR_UPB1


check button Diseases associated with fusion partners.
(DisGeNet 4.0)
PartnerGeneDisease IDDisease name# pubmedsSource
HgeneBCRC0005586Bipolar Disorder4PSYGENET
HgeneBCRC0023473Myeloid Leukemia, Chronic3CTD_human;HPO;ORPHANET
HgeneBCRC0005699Blast Phase1CTD_human
HgeneBCRC0023893Liver Cirrhosis, Experimental1CTD_human
HgeneBCRC0027022Myeloproliferative disease1CTD_human;HPO
HgeneBCRC0027540Necrosis1CTD_human
HgeneBCRC0027659Neoplasms, Experimental1CTD_human
HgeneBCRC0041696Unipolar Depression1PSYGENET
HgeneBCRC1269683Major Depressive Disorder1PSYGENET
TgeneUPB1C0004352Autistic Disorder1CTD_human
TgeneUPB1C0025517Metabolic Diseases1CTD_human
TgeneUPB1C0037769West Syndrome1CTD_human
TgeneUPB1C1291512Beta-Ureidopropionase Deficiency1CTD_human;ORPHANET;UNIPROT