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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: 20707

FusionGeneSummary for MAML2_RTKN

check button Fusion gene summary
Fusion gene informationFusion gene name: MAML2_RTKN
Fusion gene ID: 20707
HgeneTgene
Gene symbol

MAML2

RTKN

Gene ID

84441

6242

Gene namemastermind like transcriptional coactivator 2rhotekin
SynonymsMAM-3|MAM2|MAM3|MLL-MAML2-
Cytomap

11q21

2p13.1

Type of geneprotein-codingprotein-coding
Descriptionmastermind-like protein 2mam-2mastermind-like 2rhotekin
Modification date2018052320180523
UniProtAcc

Q8IZL2

Q9BST9

Ensembl transtripts involved in fusion geneENST00000524717, ENST00000305557, 
ENST00000272430, ENST00000233330, 
ENST00000484453, 
Fusion gene scores* DoF score11 X 8 X 5=4402 X 2 X 1=4
# samples 122
** MAII scorelog2(12/440*10)=-1.87446911791614
possibly effective Gene in Pan-Cancer Fusion Genes (peGinPCFGs).
DoF>8 and MAII<0
log2(2/4*10)=2.32192809488736
Context

PubMed: MAML2 [Title/Abstract] AND RTKN [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

TgeneRTKN

GO:0007165

signal transduction

10940294

TgeneRTKN

GO:0007266

Rho protein signal transduction

15480428

TgeneRTKN

GO:0042981

regulation of apoptotic process

15480428


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
ChiTaRS3.1BG983415MAML2chr11

96045073

-RTKNchr2

74654573

-
* 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-3CDSENST00000524717ENST00000305557MAML2chr11

96045073

-RTKNchr2

74654573

-
intron-3CDSENST00000524717ENST00000272430MAML2chr11

96045073

-RTKNchr2

74654573

-
intron-3CDSENST00000524717ENST00000233330MAML2chr11

96045073

-RTKNchr2

74654573

-
intron-intronENST00000524717ENST00000484453MAML2chr11

96045073

-RTKNchr2

74654573

-

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FusionProtFeatures for MAML2_RTKN


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

Q8IZL2

RTKN

Q9BST9

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}. Mediates Rho signaling to activate NF-kappa-B and mayconfer increased resistance to apoptosis to cells in gastrictumorigenesis. May play a novel role in the organization of septinstructures. {ECO:0000269|PubMed:10940294,ECO:0000269|PubMed:15480428, ECO:0000269|PubMed:16007136}.

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_RTKN


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_RTKN


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_RTKN


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_RTKN


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