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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: 4091

FusionGeneSummary for BCR_MTHFS

check button Fusion gene summary
Fusion gene informationFusion gene name: BCR_MTHFS
Fusion gene ID: 4091
HgeneTgene
Gene symbol

BCR

MTHFS

Gene ID

613

10588

Gene nameBCR, RhoGEF and GTPase activating proteinmethenyltetrahydrofolate synthetase
SynonymsALL|BCR1|CML|D22S11|D22S662|PHLHsT19268
Cytomap

22q11.23

15q25.1

Type of geneprotein-codingprotein-coding
Descriptionbreakpoint cluster region proteinBCR/FGFR1 chimera proteinFGFR1/BCR chimera proteinbreakpoint cluster regionrenal carcinoma antigen NY-REN-265-formyltetrahydrofolate cyclo-ligase5,10-methenyltetrahydrofolate synthetase (5-formyltetrahydrofolate cyclo-ligase)methenyl-THF synthetase
Modification date2018052720180523
UniProtAcc

P11274

P49914

Ensembl transtripts involved in fusion geneENST00000305877, ENST00000359540, 
ENST00000398512, ENST00000436990, 
ENST00000258874, ENST00000559722, 
Fusion gene scores* DoF score17 X 39 X 8=53041 X 1 X 1=1
# samples 701
** MAII scorelog2(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)

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

GO:0046653

tetrahydrofolate metabolic process

7766710|19738041


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
ChiTaRS3.1BF947729BCRchr22

23524010

-MTHFSchr15

80181535

+
* 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
Frame-shitENST00000305877ENST00000258874BCRchr22

23524010

-MTHFSchr15

80181535

+
5CDS-5UTRENST00000305877ENST00000559722BCRchr22

23524010

-MTHFSchr15

80181535

+
Frame-shitENST00000359540ENST00000258874BCRchr22

23524010

-MTHFSchr15

80181535

+
5CDS-5UTRENST00000359540ENST00000559722BCRchr22

23524010

-MTHFSchr15

80181535

+
Frame-shitENST00000398512ENST00000258874BCRchr22

23524010

-MTHFSchr15

80181535

+
5CDS-5UTRENST00000398512ENST00000559722BCRchr22

23524010

-MTHFSchr15

80181535

+
intron-3CDSENST00000436990ENST00000258874BCRchr22

23524010

-MTHFSchr15

80181535

+
intron-5UTRENST00000436990ENST00000559722BCRchr22

23524010

-MTHFSchr15

80181535

+

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FusionProtFeatures for BCR_MTHFS


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

P11274

MTHFS

P49914

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}.

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_MTHFS


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_MTHFS


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


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_MTHFS


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_MTHFS


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
TgeneMTHFSC0008924Cleft Lip1CTD_human
TgeneMTHFSC0008925Cleft Palate1CTD_human