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Fusion gene ID: 20701 |
FusionGeneSummary for MAML2_CNTN5 |
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Fusion gene information | Fusion gene name: MAML2_CNTN5 | Fusion gene ID: 20701 | Hgene | Tgene | Gene symbol | MAML2 | CNTN5 | Gene ID | 84441 | 53942 |
Gene name | mastermind like transcriptional coactivator 2 | contactin 5 | |
Synonyms | MAM-3|MAM2|MAM3|MLL-MAML2 | HNB-2s|NB-2 | |
Cytomap | 11q21 | 11q22.1 | |
Type of gene | protein-coding | protein-coding | |
Description | mastermind-like protein 2mam-2mastermind-like 2 | contactin-5neural adhesion moleculeneural recognition molecule NB-2 | |
Modification date | 20180523 | 20180522 | |
UniProtAcc | Q8IZL2 | O94779 | |
Ensembl transtripts involved in fusion gene | ENST00000524717, | ENST00000527185, ENST00000528682, ENST00000524871, ENST00000418526, ENST00000279463, ENST00000524560, | |
Fusion gene scores | * DoF score | 11 X 8 X 5=440 | 16 X 11 X 12=2112 |
# samples | 12 | 16 | |
** MAII score | log2(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) |
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Partner | Gene | GO ID | GO term | PubMed ID |
Hgene | MAML2 | GO:0007219 | Notch signaling pathway | 12370315 |
Hgene | MAML2 | GO:0045944 | positive regulation of transcription by RNA polymerase II | 12370315 |
![]() (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 type | Source | Cancer type | Sample | Hgene | Hchr | Hbp | Hstrand | Tgene | Tchr | Tbp | Tstrand |
TCGA | RV | BRCA | TCGA-D8-A27H-01A | MAML2 | chr11 | 95825056 | - | CNTN5 | chr11 | 99715584 | + |
* LD: Li Ding group's fusion gene list RV: Roel Verhaak group's fusion gene list ChiTaRs fusion database |
![]() * Click on the break point to see the gene structure around the break point region using the UCSC Genome Browser. |
ORF | Henst | Tenst | Hgene | Hchr | Hbp | Hstrand | Tgene | Tchr | Tbp | Tstrand |
Frame-shift | ENST00000524717 | ENST00000527185 | MAML2 | chr11 | 95825056 | - | CNTN5 | chr11 | 99715584 | + |
Frame-shift | ENST00000524717 | ENST00000528682 | MAML2 | chr11 | 95825056 | - | CNTN5 | chr11 | 99715584 | + |
Frame-shift | ENST00000524717 | ENST00000524871 | MAML2 | chr11 | 95825056 | - | CNTN5 | chr11 | 99715584 | + |
Frame-shift | ENST00000524717 | ENST00000418526 | MAML2 | chr11 | 95825056 | - | CNTN5 | chr11 | 99715584 | + |
Frame-shift | ENST00000524717 | ENST00000279463 | MAML2 | chr11 | 95825056 | - | CNTN5 | chr11 | 99715584 | + |
5CDS-intron | ENST00000524717 | ENST00000524560 | MAML2 | chr11 | 95825056 | - | CNTN5 | chr11 | 99715584 | + |
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FusionProtFeatures for MAML2_CNTN5 |
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Hgene | Tgene |
MAML2 | CNTN5 |
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}. |
![]() * 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. |
Partner | Gene | Hbp | Tbp | ENST | Strand | BPexon | TotalExon | Protein feature loci | *BPloci | TotalLen | Protein feature | Protein feature note |
- In-frame and not-retained protein feature among the 13 regional features. |
Partner | Gene | Hbp | Tbp | ENST | Strand | BPexon | TotalExon | Protein feature loci | *BPloci | TotalLen | Protein feature | Protein feature note |
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FusionGeneSequence for MAML2_CNTN5 |
![]() (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 |
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Hgene | Hgene's interactors | Tgene | Tgene's interactors |
MAML2 | MAML1, NOTCH1, DIABLO, CREBBP, EP300, RBPJ | CNTN5 | ACAD11 |
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Partner | Gene | Hbp | Tbp | ENST | Strand | BPexon | TotalExon | Protein feature loci | *BPloci | TotalLen | Still interaction with |
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Partner | Gene | Hbp | Tbp | ENST | Strand | BPexon | TotalExon | Protein feature loci | *BPloci | TotalLen | Interaction lost with |
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Partner | Gene | Hbp | Tbp | ENST | Strand | BPexon | TotalExon | Protein feature loci | *BPloci | TotalLen | Interaction lost with |
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RelatedDrugs for MAML2_CNTN5 |
![]() (DrugBank Version 5.1.0 2018-04-02) |
Partner | Gene | UniProtAcc | DrugBank ID | Drug name | Drug activity | Drug type | Drug status |
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RelatedDiseases for MAML2_CNTN5 |
![]() (DisGeNet 4.0) |
Partner | Gene | Disease ID | Disease name | # pubmeds | Source |
Hgene | MAML2 | C3495559 | Juvenile arthritis | 1 | CTD_human |