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Fusion gene ID: 9288 |
FusionGeneSummary for DAPK1_MAMDC2 |
 Fusion gene summary |
| Fusion gene information | Fusion gene name: DAPK1_MAMDC2 | Fusion gene ID: 9288 | Hgene | Tgene | Gene symbol | DAPK1 | MAMDC2 | Gene ID | 1612 | 256691 |
| Gene name | death associated protein kinase 1 | MAM domain containing 2 | |
| Synonyms | DAPK|ROCO3 | - | |
| Cytomap | 9q21.33 | 9q21.12 | |
| Type of gene | protein-coding | protein-coding | |
| Description | death-associated protein kinase 1DAP kinase 1 | MAM domain-containing protein 2MAM domain-containing proteoglycanmamcan | |
| Modification date | 20180523 | 20180522 | |
| UniProtAcc | P53355 | Q7Z304 | |
| Ensembl transtripts involved in fusion gene | ENST00000358077, ENST00000472284, ENST00000469640, ENST00000408954, ENST00000491893, ENST00000466188, | ENST00000377182, ENST00000460688, | |
| Fusion gene scores | * DoF score | 8 X 8 X 4=256 | 5 X 4 X 4=80 |
| # samples | 8 | 5 | |
| ** MAII score | log2(8/256*10)=-1.67807190511264 possibly effective Gene in Pan-Cancer Fusion Genes (peGinPCFGs). DoF>8 and MAII<0 | log2(5/80*10)=-0.678071905112638 possibly effective Gene in Pan-Cancer Fusion Genes (peGinPCFGs). DoF>8 and MAII<0 | |
| Context | PubMed: DAPK1 [Title/Abstract] AND MAMDC2 [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) |
| Gene ontology of each fusion partner gene with evidence of Inferred from Direct Assay (IDA) from Entrez |
| Partner | Gene | GO ID | GO term | PubMed ID |
| Hgene | DAPK1 | GO:0006468 | protein phosphorylation | 10629061 |
| Hgene | DAPK1 | GO:0017148 | negative regulation of translation | 18995835 |
| Hgene | DAPK1 | GO:0035556 | intracellular signal transduction | 10629061 |
| Hgene | DAPK1 | GO:0043280 | positive regulation of cysteine-type endopeptidase activity involved in apoptotic process | 16132846 |
| Hgene | DAPK1 | GO:0046777 | protein autophosphorylation | 10629061|12730201 |
| Hgene | DAPK1 | GO:0071346 | cellular response to interferon-gamma | 18995835 |
| 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 type | Source | Cancer type | Sample | Hgene | Hchr | Hbp | Hstrand | Tgene | Tchr | Tbp | Tstrand |
| ChiTaRS3.1 | BC003614 | DAPK1 | chr9 | 90260886 | + | MAMDC2 | chr9 | 72832516 | + |
| * LD: Li Ding group's fusion gene list RV: Roel Verhaak group's fusion gene list ChiTaRs fusion database |
| 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. |
| ORF | Henst | Tenst | Hgene | Hchr | Hbp | Hstrand | Tgene | Tchr | Tbp | Tstrand |
| 5CDS-intron | ENST00000358077 | ENST00000377182 | DAPK1 | chr9 | 90260886 | + | MAMDC2 | chr9 | 72832516 | + |
| 5CDS-intron | ENST00000358077 | ENST00000460688 | DAPK1 | chr9 | 90260886 | + | MAMDC2 | chr9 | 72832516 | + |
| 5CDS-intron | ENST00000472284 | ENST00000377182 | DAPK1 | chr9 | 90260886 | + | MAMDC2 | chr9 | 72832516 | + |
| 5CDS-intron | ENST00000472284 | ENST00000460688 | DAPK1 | chr9 | 90260886 | + | MAMDC2 | chr9 | 72832516 | + |
| 5CDS-intron | ENST00000469640 | ENST00000377182 | DAPK1 | chr9 | 90260886 | + | MAMDC2 | chr9 | 72832516 | + |
| 5CDS-intron | ENST00000469640 | ENST00000460688 | DAPK1 | chr9 | 90260886 | + | MAMDC2 | chr9 | 72832516 | + |
| 5CDS-intron | ENST00000408954 | ENST00000377182 | DAPK1 | chr9 | 90260886 | + | MAMDC2 | chr9 | 72832516 | + |
| 5CDS-intron | ENST00000408954 | ENST00000460688 | DAPK1 | chr9 | 90260886 | + | MAMDC2 | chr9 | 72832516 | + |
| 5CDS-intron | ENST00000491893 | ENST00000377182 | DAPK1 | chr9 | 90260886 | + | MAMDC2 | chr9 | 72832516 | + |
| 5CDS-intron | ENST00000491893 | ENST00000460688 | DAPK1 | chr9 | 90260886 | + | MAMDC2 | chr9 | 72832516 | + |
| intron-intron | ENST00000466188 | ENST00000377182 | DAPK1 | chr9 | 90260886 | + | MAMDC2 | chr9 | 72832516 | + |
| intron-intron | ENST00000466188 | ENST00000460688 | DAPK1 | chr9 | 90260886 | + | MAMDC2 | chr9 | 72832516 | + |
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FusionProtFeatures for DAPK1_MAMDC2 |
| Main function of each fusion partner protein. (from UniProt) |
| Hgene | Tgene |
| DAPK1 | MAMDC2 |
| Calcium/calmodulin-dependent serine/threonine kinaseinvolved in multiple cellular signaling pathways that trigger cellsurvival, apoptosis, and autophagy. Regulates both type Iapoptotic and type II autophagic cell deaths signal, depending onthe cellular setting. The former is caspase-dependent, while thelatter is caspase-independent and is characterized by theaccumulation of autophagic vesicles. Phosphorylates PIN1 resultingin inhibition of its catalytic activity, nuclear localization, andcellular function. Phosphorylates TPM1, enhancing stress fiberformation in endothelial cells. Phosphorylates STX1A andsignificantly decreases its binding to STXBP1. PhosphorylatesPRKD1 and regulates JNK signaling by binding and activating PRKD1under oxidative stress. Phosphorylates BECN1, reducing itsinteraction with BCL2 and BCL2L1 and promoting the induction ofautophagy. Phosphorylates TSC2, disrupting the TSC1-TSC2 complexand stimulating mTORC1 activity in a growth factor-dependentpathway. Phosphorylates RPS6, MYL9 and DAPK3. Acts as a signalingamplifier of NMDA receptors at extrasynaptic sites for mediatingbrain damage in stroke. Cerebral ischemia recruits DAPK1 into theNMDA receptor complex and it phosphorylates GRINB at Ser-1303inducing injurious Ca(2+) influx through NMDA receptor channels,resulting in an irreversible neuronal death. Required togetherwith DAPK3 for phosphorylation of RPL13A upon interferon-gammaactivation which is causing RPL13A involvement in transcript-selective translation inhibition. Isoform 2 cannot induce apoptosis but can inducemembrane blebbing. |
| Retention 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 . * 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 DAPK1_MAMDC2 |
| 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 DAPK1_MAMDC2 |
| Go to ChiPPI (Chimeric Protein-Protein interactions) to see the chimeric PPI interaction in . |
| Protein-protein interactors with each fusion partner protein in wild-type (BIOGRID-3.4.160) |
| Hgene | Hgene's interactors | Tgene | Tgene's interactors |
| - Retained PPIs in in-frame fusion. |
| Partner | Gene | Hbp | Tbp | ENST | Strand | BPexon | TotalExon | Protein feature loci | *BPloci | TotalLen | Still interaction with |
| - Lost PPIs in in-frame fusion. |
| Partner | Gene | Hbp | Tbp | ENST | Strand | BPexon | TotalExon | Protein feature loci | *BPloci | TotalLen | Interaction lost with |
| - Retained PPIs, but lost function due to frame-shift fusion. |
| Partner | Gene | Hbp | Tbp | ENST | Strand | BPexon | TotalExon | Protein feature loci | *BPloci | TotalLen | Interaction lost with |
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RelatedDrugs for DAPK1_MAMDC2 |
| Drugs targeting genes involved in this fusion gene. (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 DAPK1_MAMDC2 |
| Diseases associated with fusion partners. (DisGeNet 4.0) |
| Partner | Gene | Disease ID | Disease name | # pubmeds | Source |
| Hgene | DAPK1 | C0001418 | Adenocarcinoma | 1 | CTD_human |
| Hgene | DAPK1 | C0006118 | Brain Neoplasms | 1 | CTD_human |
| Hgene | DAPK1 | C0007131 | Non-Small Cell Lung Carcinoma | 1 | CTD_human |
| Hgene | DAPK1 | C0007134 | Renal Cell Carcinoma | 1 | CTD_human |
| Hgene | DAPK1 | C0007138 | Carcinoma, Transitional Cell | 1 | CTD_human |
| Hgene | DAPK1 | C0009759 | Conjunctival Diseases | 1 | CTD_human |
| Hgene | DAPK1 | C0010606 | Adenoid Cystic Carcinoma | 1 | CTD_human |
| Hgene | DAPK1 | C0023467 | Leukemia, Myelocytic, Acute | 1 | CTD_human |
| Hgene | DAPK1 | C0024121 | Lung Neoplasms | 1 | CTD_human |
| Hgene | DAPK1 | C0027627 | Neoplasm Metastasis | 1 | CTD_human |
| Hgene | DAPK1 | C0031117 | Peripheral Neuropathy | 1 | CTD_human |
| Hgene | DAPK1 | C0035242 | Respiratory Tract Diseases | 1 | CTD_human |
| Hgene | DAPK1 | C0036095 | Salivary Gland Neoplasms | 1 | CTD_human |
| Hgene | DAPK1 | C0085183 | Neoplasms, Second Primary | 1 | CTD_human |
| Hgene | DAPK1 | C3463824 | MYELODYSPLASTIC SYNDROME | 1 | CTD_human |
| Hgene | DAPK1 | C3495559 | Juvenile arthritis | 1 | CTD_human |
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