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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: 20703

FusionGeneSummary for MAML2_EPHB2

check button Fusion gene summary
Fusion gene informationFusion gene name: MAML2_EPHB2
Fusion gene ID: 20703
HgeneTgene
Gene symbol

MAML2

EPHB2

Gene ID

84441

2048

Gene namemastermind like transcriptional coactivator 2EPH receptor B2
SynonymsMAM-3|MAM2|MAM3|MLL-MAML2CAPB|DRT|EK5|EPHT3|ERK|Hek5|PCBC|Tyro5
Cytomap

11q21

1p36.12

Type of geneprotein-codingprotein-coding
Descriptionmastermind-like protein 2mam-2mastermind-like 2ephrin type-B receptor 2EPH-like kinase 5developmentally-regulated Eph-related tyrosine kinaseelk-related tyrosine kinaseeph tyrosine kinase 3protein-tyrosine kinase HEK5renal carcinoma antigen NY-REN-47tyrosine-protein kinase TYRO5tyrosine-protei
Modification date2018052320180523
UniProtAcc

Q8IZL2

P29323

Ensembl transtripts involved in fusion geneENST00000524717, ENST00000544305, 
ENST00000374630, ENST00000400191, 
ENST00000374632, ENST00000374627, 
ENST00000465676, 
Fusion gene scores* DoF score11 X 8 X 5=4409 X 8 X 4=288
# samples 1211
** MAII scorelog2(12/440*10)=-1.87446911791614
possibly effective Gene in Pan-Cancer Fusion Genes (peGinPCFGs).
DoF>8 and MAII<0
log2(11/288*10)=-1.38856528791765
possibly effective Gene in Pan-Cancer Fusion Genes (peGinPCFGs).
DoF>8 and MAII<0
Context

PubMed: MAML2 [Title/Abstract] AND EPHB2 [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
HgeneMAML2

GO:0007219

Notch signaling pathway

12370315

HgeneMAML2

GO:0045944

positive regulation of transcription by RNA polymerase II

12370315


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
ChiTaRS3.1BF929677MAML2chr11

95756315

-EPHB2chr1

23235514

+
* 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
intron-intronENST00000524717ENST00000544305MAML2chr11

95756315

-EPHB2chr1

23235514

+
intron-intronENST00000524717ENST00000374630MAML2chr11

95756315

-EPHB2chr1

23235514

+
intron-intronENST00000524717ENST00000400191MAML2chr11

95756315

-EPHB2chr1

23235514

+
intron-intronENST00000524717ENST00000374632MAML2chr11

95756315

-EPHB2chr1

23235514

+
intron-intronENST00000524717ENST00000374627MAML2chr11

95756315

-EPHB2chr1

23235514

+
intron-intronENST00000524717ENST00000465676MAML2chr11

95756315

-EPHB2chr1

23235514

+

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FusionProtFeatures for MAML2_EPHB2


check buttonMain function of each fusion partner protein. (from UniProt)
HgeneTgene
MAML2

Q8IZL2

EPHB2

P29323

Acts as a transcriptional coactivator for NOTCHproteins. Has been shown to amplify NOTCH-induced transcription ofHES1. Potentiates activation by NOTCH3 and NOTCH4 more efficientlythan MAML1 or MAML3. {ECO:0000269|PubMed:12370315,ECO:0000269|PubMed:12386158, ECO:0000269|PubMed:12539049}. Receptor tyrosine kinase which binds promiscuouslytransmembrane ephrin-B family ligands residing on adjacent cells,leading to contact-dependent bidirectional signaling intoneighboring cells. The signaling pathway downstream of thereceptor is referred to as forward signaling while the signalingpathway downstream of the ephrin ligand is referred to as reversesignaling. Functions in axon guidance during development. Involvedin the guidance of commissural axons, that form a majorinterhemispheric connection between the 2 temporal lobes of thecerebral cortex. Also involved in guidance of contralateral innerear efferent growth cones at the midline and of retinal ganglioncell axons to the optic disk. In addition to axon guidance, alsoregulates dendritic spines development and maturation andstimulates the formation of excitatory synapses. Upon activationby EFNB1, abolishes the ARHGEF15-mediated negative regulation onexcitatory synapse formation. Controls other aspects ofdevelopment including angiogenesis, palate development and ininner ear development through regulation of endolymph production.Forward and reverse signaling through the EFNB2/EPHB2 complexregulate movement and adhesion of cells that tubularize theurethra and septate the cloaca. May function as a tumorsuppressor. {ECO:0000269|PubMed:15300251}.

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 MAML2_EPHB2


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 MAML2_EPHB2


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 MAML2_EPHB2


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 MAML2_EPHB2


check button Diseases associated with fusion partners.
(DisGeNet 4.0)
PartnerGeneDisease IDDisease name# pubmedsSource
HgeneMAML2C3495559Juvenile arthritis1CTD_human
TgeneEPHB2C0376358Malignant neoplasm of prostate3UNIPROT
TgeneEPHB2C0014474Ependymoma1CTD_human