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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: 2127

FusionGeneSummary for APBB2_DMD

check button Fusion gene summary
Fusion gene informationFusion gene name: APBB2_DMD
Fusion gene ID: 2127
HgeneTgene
Gene symbol

APBB2

DMD

Gene ID

323

1756

Gene nameamyloid beta precursor protein binding family B member 2dystrophin
SynonymsFE65L|FE65L1BMD|CMD3B|DXS142|DXS164|DXS206|DXS230|DXS239|DXS268|DXS269|DXS270|DXS272|MRX85
Cytomap

4p14-p13

Xp21.2-p21.1

Type of geneprotein-codingprotein-coding
Descriptionamyloid-beta A4 precursor protein-binding family B member 2Fe65-like 1protein Fe65-like 1dystrophin
Modification date2018052320180522
UniProtAcc

Q92870

P11532

Ensembl transtripts involved in fusion geneENST00000295974, ENST00000513140, 
ENST00000508593, ENST00000506352, 
ENST00000511572, ENST00000543538, 
ENST00000502841, ENST00000504305, 
ENST00000378707, ENST00000359836, 
ENST00000541735, ENST00000343523, 
ENST00000378677, ENST00000357033, 
ENST00000474231, ENST00000378723, 
ENST00000378702, ENST00000361471, 
ENST00000378680, ENST00000288447, 
ENST00000445312, 
Fusion gene scores* DoF score8 X 8 X 3=19216 X 18 X 7=2016
# samples 818
** MAII scorelog2(8/192*10)=-1.26303440583379
possibly effective Gene in Pan-Cancer Fusion Genes (peGinPCFGs).
DoF>8 and MAII<0
log2(18/2016*10)=-3.48542682717024
possibly effective Gene in Pan-Cancer Fusion Genes (peGinPCFGs).
DoF>8 and MAII<0
Context

PubMed: APBB2 [Title/Abstract] AND DMD [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
TgeneDMD

GO:0043043

peptide biosynthetic process

16000376


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
TCGARVBRCATCGA-A2-A0T0-01AAPBB2chr4

40823888

-DMDchrX

31525570

-
* 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-shiftENST00000295974ENST00000378707APBB2chr4

40823888

-DMDchrX

31525570

-
Frame-shiftENST00000295974ENST00000359836APBB2chr4

40823888

-DMDchrX

31525570

-
Frame-shiftENST00000295974ENST00000541735APBB2chr4

40823888

-DMDchrX

31525570

-
Frame-shiftENST00000295974ENST00000343523APBB2chr4

40823888

-DMDchrX

31525570

-
Frame-shiftENST00000295974ENST00000378677APBB2chr4

40823888

-DMDchrX

31525570

-
Frame-shiftENST00000295974ENST00000357033APBB2chr4

40823888

-DMDchrX

31525570

-
Frame-shiftENST00000295974ENST00000474231APBB2chr4

40823888

-DMDchrX

31525570

-
5CDS-intronENST00000295974ENST00000378723APBB2chr4

40823888

-DMDchrX

31525570

-
5CDS-intronENST00000295974ENST00000378702APBB2chr4

40823888

-DMDchrX

31525570

-
5CDS-intronENST00000295974ENST00000361471APBB2chr4

40823888

-DMDchrX

31525570

-
5CDS-intronENST00000295974ENST00000378680APBB2chr4

40823888

-DMDchrX

31525570

-
5CDS-intronENST00000295974ENST00000288447APBB2chr4

40823888

-DMDchrX

31525570

-
5CDS-5UTRENST00000295974ENST00000445312APBB2chr4

40823888

-DMDchrX

31525570

-
Frame-shiftENST00000513140ENST00000378707APBB2chr4

40823888

-DMDchrX

31525570

-
Frame-shiftENST00000513140ENST00000359836APBB2chr4

40823888

-DMDchrX

31525570

-
Frame-shiftENST00000513140ENST00000541735APBB2chr4

40823888

-DMDchrX

31525570

-
Frame-shiftENST00000513140ENST00000343523APBB2chr4

40823888

-DMDchrX

31525570

-
Frame-shiftENST00000513140ENST00000378677APBB2chr4

40823888

-DMDchrX

31525570

-
Frame-shiftENST00000513140ENST00000357033APBB2chr4

40823888

-DMDchrX

31525570

-
Frame-shiftENST00000513140ENST00000474231APBB2chr4

40823888

-DMDchrX

31525570

-
5CDS-intronENST00000513140ENST00000378723APBB2chr4

40823888

-DMDchrX

31525570

-
5CDS-intronENST00000513140ENST00000378702APBB2chr4

40823888

-DMDchrX

31525570

-
5CDS-intronENST00000513140ENST00000361471APBB2chr4

40823888

-DMDchrX

31525570

-
5CDS-intronENST00000513140ENST00000378680APBB2chr4

40823888

-DMDchrX

31525570

-
5CDS-intronENST00000513140ENST00000288447APBB2chr4

40823888

-DMDchrX

31525570

-
5CDS-5UTRENST00000513140ENST00000445312APBB2chr4

40823888

-DMDchrX

31525570

-
Frame-shiftENST00000508593ENST00000378707APBB2chr4

40823888

-DMDchrX

31525570

-
Frame-shiftENST00000508593ENST00000359836APBB2chr4

40823888

-DMDchrX

31525570

-
Frame-shiftENST00000508593ENST00000541735APBB2chr4

40823888

-DMDchrX

31525570

-
Frame-shiftENST00000508593ENST00000343523APBB2chr4

40823888

-DMDchrX

31525570

-
Frame-shiftENST00000508593ENST00000378677APBB2chr4

40823888

-DMDchrX

31525570

-
Frame-shiftENST00000508593ENST00000357033APBB2chr4

40823888

-DMDchrX

31525570

-
Frame-shiftENST00000508593ENST00000474231APBB2chr4

40823888

-DMDchrX

31525570

-
5CDS-intronENST00000508593ENST00000378723APBB2chr4

40823888

-DMDchrX

31525570

-
5CDS-intronENST00000508593ENST00000378702APBB2chr4

40823888

-DMDchrX

31525570

-
5CDS-intronENST00000508593ENST00000361471APBB2chr4

40823888

-DMDchrX

31525570

-
5CDS-intronENST00000508593ENST00000378680APBB2chr4

40823888

-DMDchrX

31525570

-
5CDS-intronENST00000508593ENST00000288447APBB2chr4

40823888

-DMDchrX

31525570

-
5CDS-5UTRENST00000508593ENST00000445312APBB2chr4

40823888

-DMDchrX

31525570

-
Frame-shiftENST00000506352ENST00000378707APBB2chr4

40823888

-DMDchrX

31525570

-
Frame-shiftENST00000506352ENST00000359836APBB2chr4

40823888

-DMDchrX

31525570

-
Frame-shiftENST00000506352ENST00000541735APBB2chr4

40823888

-DMDchrX

31525570

-
Frame-shiftENST00000506352ENST00000343523APBB2chr4

40823888

-DMDchrX

31525570

-
Frame-shiftENST00000506352ENST00000378677APBB2chr4

40823888

-DMDchrX

31525570

-
Frame-shiftENST00000506352ENST00000357033APBB2chr4

40823888

-DMDchrX

31525570

-
Frame-shiftENST00000506352ENST00000474231APBB2chr4

40823888

-DMDchrX

31525570

-
5CDS-intronENST00000506352ENST00000378723APBB2chr4

40823888

-DMDchrX

31525570

-
5CDS-intronENST00000506352ENST00000378702APBB2chr4

40823888

-DMDchrX

31525570

-
5CDS-intronENST00000506352ENST00000361471APBB2chr4

40823888

-DMDchrX

31525570

-
5CDS-intronENST00000506352ENST00000378680APBB2chr4

40823888

-DMDchrX

31525570

-
5CDS-intronENST00000506352ENST00000288447APBB2chr4

40823888

-DMDchrX

31525570

-
5CDS-5UTRENST00000506352ENST00000445312APBB2chr4

40823888

-DMDchrX

31525570

-
intron-3CDSENST00000511572ENST00000378707APBB2chr4

40823888

-DMDchrX

31525570

-
intron-3CDSENST00000511572ENST00000359836APBB2chr4

40823888

-DMDchrX

31525570

-
intron-3CDSENST00000511572ENST00000541735APBB2chr4

40823888

-DMDchrX

31525570

-
intron-3CDSENST00000511572ENST00000343523APBB2chr4

40823888

-DMDchrX

31525570

-
intron-3CDSENST00000511572ENST00000378677APBB2chr4

40823888

-DMDchrX

31525570

-
intron-3CDSENST00000511572ENST00000357033APBB2chr4

40823888

-DMDchrX

31525570

-
intron-3CDSENST00000511572ENST00000474231APBB2chr4

40823888

-DMDchrX

31525570

-
intron-intronENST00000511572ENST00000378723APBB2chr4

40823888

-DMDchrX

31525570

-
intron-intronENST00000511572ENST00000378702APBB2chr4

40823888

-DMDchrX

31525570

-
intron-intronENST00000511572ENST00000361471APBB2chr4

40823888

-DMDchrX

31525570

-
intron-intronENST00000511572ENST00000378680APBB2chr4

40823888

-DMDchrX

31525570

-
intron-intronENST00000511572ENST00000288447APBB2chr4

40823888

-DMDchrX

31525570

-
intron-5UTRENST00000511572ENST00000445312APBB2chr4

40823888

-DMDchrX

31525570

-
Frame-shiftENST00000543538ENST00000378707APBB2chr4

40823888

-DMDchrX

31525570

-
Frame-shiftENST00000543538ENST00000359836APBB2chr4

40823888

-DMDchrX

31525570

-
Frame-shiftENST00000543538ENST00000541735APBB2chr4

40823888

-DMDchrX

31525570

-
Frame-shiftENST00000543538ENST00000343523APBB2chr4

40823888

-DMDchrX

31525570

-
Frame-shiftENST00000543538ENST00000378677APBB2chr4

40823888

-DMDchrX

31525570

-
Frame-shiftENST00000543538ENST00000357033APBB2chr4

40823888

-DMDchrX

31525570

-
Frame-shiftENST00000543538ENST00000474231APBB2chr4

40823888

-DMDchrX

31525570

-
5CDS-intronENST00000543538ENST00000378723APBB2chr4

40823888

-DMDchrX

31525570

-
5CDS-intronENST00000543538ENST00000378702APBB2chr4

40823888

-DMDchrX

31525570

-
5CDS-intronENST00000543538ENST00000361471APBB2chr4

40823888

-DMDchrX

31525570

-
5CDS-intronENST00000543538ENST00000378680APBB2chr4

40823888

-DMDchrX

31525570

-
5CDS-intronENST00000543538ENST00000288447APBB2chr4

40823888

-DMDchrX

31525570

-
5CDS-5UTRENST00000543538ENST00000445312APBB2chr4

40823888

-DMDchrX

31525570

-
Frame-shiftENST00000502841ENST00000378707APBB2chr4

40823888

-DMDchrX

31525570

-
Frame-shiftENST00000502841ENST00000359836APBB2chr4

40823888

-DMDchrX

31525570

-
Frame-shiftENST00000502841ENST00000541735APBB2chr4

40823888

-DMDchrX

31525570

-
Frame-shiftENST00000502841ENST00000343523APBB2chr4

40823888

-DMDchrX

31525570

-
Frame-shiftENST00000502841ENST00000378677APBB2chr4

40823888

-DMDchrX

31525570

-
Frame-shiftENST00000502841ENST00000357033APBB2chr4

40823888

-DMDchrX

31525570

-
Frame-shiftENST00000502841ENST00000474231APBB2chr4

40823888

-DMDchrX

31525570

-
5CDS-intronENST00000502841ENST00000378723APBB2chr4

40823888

-DMDchrX

31525570

-
5CDS-intronENST00000502841ENST00000378702APBB2chr4

40823888

-DMDchrX

31525570

-
5CDS-intronENST00000502841ENST00000361471APBB2chr4

40823888

-DMDchrX

31525570

-
5CDS-intronENST00000502841ENST00000378680APBB2chr4

40823888

-DMDchrX

31525570

-
5CDS-intronENST00000502841ENST00000288447APBB2chr4

40823888

-DMDchrX

31525570

-
5CDS-5UTRENST00000502841ENST00000445312APBB2chr4

40823888

-DMDchrX

31525570

-
Frame-shiftENST00000504305ENST00000378707APBB2chr4

40823888

-DMDchrX

31525570

-
Frame-shiftENST00000504305ENST00000359836APBB2chr4

40823888

-DMDchrX

31525570

-
Frame-shiftENST00000504305ENST00000541735APBB2chr4

40823888

-DMDchrX

31525570

-
Frame-shiftENST00000504305ENST00000343523APBB2chr4

40823888

-DMDchrX

31525570

-
Frame-shiftENST00000504305ENST00000378677APBB2chr4

40823888

-DMDchrX

31525570

-
Frame-shiftENST00000504305ENST00000357033APBB2chr4

40823888

-DMDchrX

31525570

-
Frame-shiftENST00000504305ENST00000474231APBB2chr4

40823888

-DMDchrX

31525570

-
5CDS-intronENST00000504305ENST00000378723APBB2chr4

40823888

-DMDchrX

31525570

-
5CDS-intronENST00000504305ENST00000378702APBB2chr4

40823888

-DMDchrX

31525570

-
5CDS-intronENST00000504305ENST00000361471APBB2chr4

40823888

-DMDchrX

31525570

-
5CDS-intronENST00000504305ENST00000378680APBB2chr4

40823888

-DMDchrX

31525570

-
5CDS-intronENST00000504305ENST00000288447APBB2chr4

40823888

-DMDchrX

31525570

-
5CDS-5UTRENST00000504305ENST00000445312APBB2chr4

40823888

-DMDchrX

31525570

-

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FusionProtFeatures for APBB2_DMD


check buttonMain function of each fusion partner protein. (from UniProt)
HgeneTgene
APBB2

Q92870

DMD

P11532

May modulate the internalization of amyloid-betaprecursor protein.

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 APBB2_DMD


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 APBB2_DMD


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
APBB2APP, EGFR, HSPA8, TBC1D4, OSBPL2, APLP2, APBB1, AKAP1, GOPC, TUBA1A, APLP1, CBWD1, APOL2, RAP1GDS1, SYDE2, ATP7A, WDR41, TBC1D2B, FMN2, QTRT1, LDHAL6B, WISP3, NCK1, SORT1, SYNCRIP, MRPL1, GAN, TMEM30B, ADCYAP1, VAV1, HGFACDMDDTNA, KCNJ12, KCNJ4, SNTA1, SNTB2, SNTB1, DAG1, ACTA1, MAP3K5, TERF1, TERF2, DISC1, TRAF3IP1, ARRB1, NFX1, MARK2, APP, NEDD4, PTRF, AHNAK, ALB, NOS1, CDC25A, DTNB, CTNNAL1, HAUS1, LPAR6, CTNNA1, XPO1, NUPL1, KIF15, GAN, MCM2, TENC1, TNS1, TNS3, SNTG2, LONRF3, HAUS4, UTRN, OSBPL1A, LRRC8E, KIF23, SIRT2, TRIM41, IFIT5, WDR54, MPP6, TRIM25


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 APBB2_DMD


check button Drugs targeting genes involved in this fusion gene.
(DrugBank Version 5.1.0 2018-04-02)
PartnerGeneUniProtAccDrugBank IDDrug nameDrug activityDrug typeDrug status

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RelatedDiseases for APBB2_DMD


check button Diseases associated with fusion partners.
(DisGeNet 4.0)
PartnerGeneDisease IDDisease name# pubmedsSource
HgeneAPBB2C0043094Weight Gain1CTD_human
TgeneDMDC0013264Muscular Dystrophy, Duchenne16CTD_human;ORPHANET;UNIPROT
TgeneDMDC0026850Muscular Dystrophy4CTD_human;HPO
TgeneDMDC3668940Dmd-Associated Dilated Cardiomyopathy4CTD_human;UNIPROT
TgeneDMDC0878544Cardiomyopathies3CTD_human;HPO
TgeneDMDC0006663Calcinosis1CTD_human
TgeneDMDC0007193Cardiomyopathy, Dilated1CTD_human;HPO
TgeneDMDC0018800Cardiomegaly1CTD_human
TgeneDMDC0023269leiomyosarcoma1CTD_human
TgeneDMDC0026851Muscular Dystrophy, Animal1CTD_human
TgeneDMDC0027540Necrosis1CTD_human
TgeneDMDC0027626Neoplasm Invasiveness1CTD_human
TgeneDMDC0027627Neoplasm Metastasis1CTD_human
TgeneDMDC0032460Polycystic Ovary Syndrome1CTD_human
TgeneDMDC0038220Status Epilepticus1CTD_human
TgeneDMDC0151786Muscle Weakness1CTD_human;HPO
TgeneDMDC0206656Rhabdomyosarcoma, Embryonal1CTD_human
TgeneDMDC0238198Gastrointestinal Stromal Tumors1CTD_human
TgeneDMDC0242973Ventricular Dysfunction1CTD_human
TgeneDMDC0917713Becker Muscular Dystrophy1ORPHANET;UNIPROT