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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: 21044

FusionGeneSummary for MAPKBP1_EPB42

check button Fusion gene summary
Fusion gene informationFusion gene name: MAPKBP1_EPB42
Fusion gene ID: 21044
HgeneTgene
Gene symbol

MAPKBP1

EPB42

Gene ID

23005

2038

Gene namemitogen-activated protein kinase binding protein 1erythrocyte membrane protein band 4.2
SynonymsJNKBP-1|JNKBP1|NPHP20PA|SPH5
Cytomap

15q15.1

15q15.2

Type of geneprotein-codingprotein-coding
Descriptionmitogen-activated protein kinase-binding protein 1JNK-binding protein 1erythrocyte membrane protein band 4.2P4.2erythrocyte protein 4.2erythrocyte surface protein band 4.2
Modification date2018051920180519
UniProtAcc

O60336

P16452

Ensembl transtripts involved in fusion geneENST00000221214, ENST00000457542, 
ENST00000260357, ENST00000456763, 
ENST00000514566, ENST00000507762, 
ENST00000563128, ENST00000300215, 
ENST00000540029, ENST00000441366, 
Fusion gene scores* DoF score7 X 4 X 3=843 X 2 X 3=18
# samples 63
** MAII scorelog2(6/84*10)=-0.485426827170242
possibly effective Gene in Pan-Cancer Fusion Genes (peGinPCFGs).
DoF>8 and MAII<0		log2(3/18*10)=0.736965594166206
effective Gene in Pan-Cancer Fusion Genes (eGinPCFGs).
DoF>8 and MAII>0
Context

PubMed: MAPKBP1 [Title/Abstract] AND EPB42 [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
TCGALDMESOTCGA-3H-AB3M-01AMAPKBP1chr15

42067587

+EPB42chr15

43495473

-
* 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-5UTRENST00000221214ENST00000563128MAPKBP1chr15

42067587

+EPB42chr15

43495473

-
5CDS-5UTRENST00000221214ENST00000300215MAPKBP1chr15

42067587

+EPB42chr15

43495473

-
5CDS-5UTRENST00000221214ENST00000540029MAPKBP1chr15

42067587

+EPB42chr15

43495473

-
5CDS-5UTRENST00000221214ENST00000441366MAPKBP1chr15

42067587

+EPB42chr15

43495473

-
5CDS-5UTRENST00000457542ENST00000563128MAPKBP1chr15

42067587

+EPB42chr15

43495473

-
5CDS-5UTRENST00000457542ENST00000300215MAPKBP1chr15

42067587

+EPB42chr15

43495473

-
5CDS-5UTRENST00000457542ENST00000540029MAPKBP1chr15

42067587

+EPB42chr15

43495473

-
5CDS-5UTRENST00000457542ENST00000441366MAPKBP1chr15

42067587

+EPB42chr15

43495473

-
5UTR-5UTRENST00000260357ENST00000563128MAPKBP1chr15

42067587

+EPB42chr15

43495473

-
5UTR-5UTRENST00000260357ENST00000300215MAPKBP1chr15

42067587

+EPB42chr15

43495473

-
5UTR-5UTRENST00000260357ENST00000540029MAPKBP1chr15

42067587

+EPB42chr15

43495473

-
5UTR-5UTRENST00000260357ENST00000441366MAPKBP1chr15

42067587

+EPB42chr15

43495473

-
5CDS-5UTRENST00000456763ENST00000563128MAPKBP1chr15

42067587

+EPB42chr15

43495473

-
5CDS-5UTRENST00000456763ENST00000300215MAPKBP1chr15

42067587

+EPB42chr15

43495473

-
5CDS-5UTRENST00000456763ENST00000540029MAPKBP1chr15

42067587

+EPB42chr15

43495473

-
5CDS-5UTRENST00000456763ENST00000441366MAPKBP1chr15

42067587

+EPB42chr15

43495473

-
5CDS-5UTRENST00000514566ENST00000563128MAPKBP1chr15

42067587

+EPB42chr15

43495473

-
5CDS-5UTRENST00000514566ENST00000300215MAPKBP1chr15

42067587

+EPB42chr15

43495473

-
5CDS-5UTRENST00000514566ENST00000540029MAPKBP1chr15

42067587

+EPB42chr15

43495473

-
5CDS-5UTRENST00000514566ENST00000441366MAPKBP1chr15

42067587

+EPB42chr15

43495473

-
3UTR-5UTRENST00000507762ENST00000563128MAPKBP1chr15

42067587

+EPB42chr15

43495473

-
3UTR-5UTRENST00000507762ENST00000300215MAPKBP1chr15

42067587

+EPB42chr15

43495473

-
3UTR-5UTRENST00000507762ENST00000540029MAPKBP1chr15

42067587

+EPB42chr15

43495473

-
3UTR-5UTRENST00000507762ENST00000441366MAPKBP1chr15

42067587

+EPB42chr15

43495473

-

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FusionProtFeatures for MAPKBP1_EPB42


check buttonMain function of each fusion partner protein. (from UniProt)
HgeneTgene
MAPKBP1

O60336

EPB42

P16452

Negative regulator of NOD2 function. It down-regulatesNOD2-induced processes such as activation of NF-kappa-B signaling,IL8 secretion and antibacterial response (PubMed:22700971).Involved in JNK signaling pathway (By similarity).{ECO:0000250|UniProtKB:Q6NS57, ECO:0000269|PubMed:22700971}. Probably plays an important role in the regulation oferythrocyte shape and mechanical properties.

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 MAPKBP1_EPB42


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 MAPKBP1_EPB42


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
MAPKBP1APTX, KRTAP5-9, KRT31, MDFI, MEOX2, TRIM27, SIAH1, TCF4, TCF12, TRIP6, RGS20, KEAP1, SPRY2, GLRX3, ADAMTSL4, TEX11, ALG13, KRTAP4-12, KRTAP3-2, KRTAP9-2, KRTAP9-4, KRT40, KRTAP10-7, KRTAP10-9, KRTAP10-1, KRTAP10-8, KRTAP10-3, NOTCH2NL, WDR62EPB42SPINK7, ANK2, SLC4A1, KRAS, SPTAN1, MAPK14, SLC4A7, HSPA8, SNX6


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 MAPKBP1_EPB42


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 MAPKBP1_EPB42


check button Diseases associated with fusion partners.
(DisGeNet 4.0)
PartnerGeneDisease IDDisease name# pubmedsSource
TgeneEPB42C2675192Spherocytosis, Type 54CTD_human;UNIPROT