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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: 20701

FusionGeneSummary for MAML2_CNTN5

check button Fusion gene summary
Fusion gene informationFusion gene name: MAML2_CNTN5
Fusion gene ID: 20701
HgeneTgene
Gene symbol

MAML2

CNTN5

Gene ID

84441

53942

Gene namemastermind like transcriptional coactivator 2contactin 5
SynonymsMAM-3|MAM2|MAM3|MLL-MAML2HNB-2s|NB-2
Cytomap

11q21

11q22.1

Type of geneprotein-codingprotein-coding
Descriptionmastermind-like protein 2mam-2mastermind-like 2contactin-5neural adhesion moleculeneural recognition molecule NB-2
Modification date2018052320180522
UniProtAcc

Q8IZL2

O94779

Ensembl transtripts involved in fusion geneENST00000524717, ENST00000527185, 
ENST00000528682, ENST00000524871, 
ENST00000418526, ENST00000279463, 
ENST00000524560, 
Fusion gene scores* DoF score11 X 8 X 5=44016 X 11 X 12=2112
# samples 1216
** MAII scorelog2(12/440*10)=-1.87446911791614
possibly effective Gene in Pan-Cancer Fusion Genes (peGinPCFGs).
DoF>8 and MAII<0
log2(16/2112*10)=-3.72246602447109
possibly effective Gene in Pan-Cancer Fusion Genes (peGinPCFGs).
DoF>8 and MAII<0
Context

PubMed: MAML2 [Title/Abstract] AND CNTN5 [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
TCGARVBRCATCGA-D8-A27H-01AMAML2chr11

95825056

-CNTN5chr11

99715584

+
* 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-shitENST00000524717ENST00000527185MAML2chr11

95825056

-CNTN5chr11

99715584

+
Frame-shitENST00000524717ENST00000528682MAML2chr11

95825056

-CNTN5chr11

99715584

+
Frame-shitENST00000524717ENST00000524871MAML2chr11

95825056

-CNTN5chr11

99715584

+
Frame-shitENST00000524717ENST00000418526MAML2chr11

95825056

-CNTN5chr11

99715584

+
Frame-shitENST00000524717ENST00000279463MAML2chr11

95825056

-CNTN5chr11

99715584

+
5CDS-intronENST00000524717ENST00000524560MAML2chr11

95825056

-CNTN5chr11

99715584

+

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FusionProtFeatures for MAML2_CNTN5


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

Q8IZL2

CNTN5

O94779

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}. Contactins mediate cell surface interactions duringnervous system development. Has some neurite outgrowth-promotingactivity in the cerebral cortical neurons but not in hippocampalneurons. Probably involved in neuronal activity in the auditorysystem (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 MAML2_CNTN5


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_CNTN5


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
MAML2MAML1, NOTCH1, DIABLO, CREBBP, EP300, RBPJCNTN5ACAD11


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_CNTN5


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_CNTN5


check button Diseases associated with fusion partners.
(DisGeNet 4.0)
PartnerGeneDisease IDDisease name# pubmedsSource
HgeneMAML2C3495559Juvenile arthritis1CTD_human