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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: 22892

FusionGeneSummary for MUM1_EFNA2

check button Fusion gene summary
Fusion gene informationFusion gene name: MUM1_EFNA2
Fusion gene ID: 22892
HgeneTgene
Gene symbol

MUM1

EFNA2

Gene ID

84939

1943

Gene namemelanoma associated antigen (mutated) 1ephrin A2
SynonymsEXPAND1|HSPC211|MUM-1ELF-1|EPLG6|HEK7-L|LERK-6|LERK6
Cytomap

19p13.3

19p13.3

Type of geneprotein-codingprotein-coding
DescriptionPWWP domain-containing protein MUM1melanoma ubiquitous mutated proteinmutated melanoma-associated antigen 1protein expandereephrin-A2HEK7 ligandeph-related receptor tyrosine kinase ligand 6
Modification date2018051920180523
UniProtAcc

Q2TAK8

O43921

Ensembl transtripts involved in fusion geneENST00000344663, ENST00000591806, 
ENST00000311401, ENST00000415183, 
ENST00000591453, 
ENST00000215368, 
Fusion gene scores* DoF score3 X 3 X 3=272 X 2 X 2=8
# samples 32
** MAII scorelog2(3/27*10)=0.15200309344505
effective Gene in Pan-Cancer Fusion Genes (eGinPCFGs).
DoF>8 and MAII>0
log2(2/8*10)=1.32192809488736
Context

PubMed: MUM1 [Title/Abstract] AND EFNA2 [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
TCGALDCHOLTCGA-3X-AAVA-01AMUM1chr19

1367219

+EFNA2chr19

1299823

+
* 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-shiftENST00000344663ENST00000215368MUM1chr19

1367219

+EFNA2chr19

1299823

+
Frame-shiftENST00000591806ENST00000215368MUM1chr19

1367219

+EFNA2chr19

1299823

+
Frame-shiftENST00000311401ENST00000215368MUM1chr19

1367219

+EFNA2chr19

1299823

+
Frame-shiftENST00000415183ENST00000215368MUM1chr19

1367219

+EFNA2chr19

1299823

+
intron-3CDSENST00000591453ENST00000215368MUM1chr19

1367219

+EFNA2chr19

1299823

+

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FusionProtFeatures for MUM1_EFNA2


check buttonMain function of each fusion partner protein. (from UniProt)
HgeneTgene
MUM1

Q2TAK8

EFNA2

O43921

Cell surface GPI-bound ligand for Eph receptors, afamily of receptor tyrosine kinases which are crucial formigration, repulsion and adhesion during neuronal, vascular andepithelial development. Binds promiscuously Eph receptors residingon adjacent cells, leading to contact-dependent bidirectionalsignaling into neighboring cells. The signaling pathway downstreamof the receptor is referred to as forward signaling while thesignaling pathway downstream of the ephrin ligand is referred toas reverse signaling. With the EPHA2 receptor may play a role inbone remodeling through regulation of osteoclastogenesis andosteoblastogenesis (By similarity). {ECO:0000250}.

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 MUM1_EFNA2


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 MUM1_EFNA2


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
MUM1ELAVL1, HIST2H3C, CUL5, BAG3, MEOX2, PSMA3, CEP55, GOPC, GSTO2, CBWD1, SMC6, BAIAP2L1, PPP1R15AEFNA2ZHX1, ADAM10, EPHA7, BAP1


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 MUM1_EFNA2


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 MUM1_EFNA2


check button Diseases associated with fusion partners.
(DisGeNet 4.0)
PartnerGeneDisease IDDisease name# pubmedsSource