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![]() | Fusion Gene Summary |
![]() | Fusion Gene ORF analysis |
![]() | Fusion Genomic Features |
![]() | Fusion Protein Features |
![]() | Fusion Gene Sequence |
![]() | Fusion Gene PPI analysis |
![]() | Related Drugs |
![]() | Related Diseases |
Fusion gene:CD2AP-MDFI (FusionGDB2 ID:HG23607TG4188) |
Fusion Gene Summary for CD2AP-MDFI |
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Fusion gene information | Fusion gene name: CD2AP-MDFI | Fusion gene ID: hg23607tg4188 | Hgene | Tgene | Gene symbol | CD2AP | MDFI | Gene ID | 23607 | 4188 |
Gene name | CD2 associated protein | MyoD family inhibitor | |
Synonyms | CMS | I-MF|I-mfa | |
Cytomap | ('CD2AP')('MDFI') 6p12.3 | 6p21.1 | |
Type of gene | protein-coding | protein-coding | |
Description | CD2-associated proteinCas ligand with multiple Src homology 3 (SH3) domainsadapter protein CMScas ligand with multiple SH3 domains | myoD family inhibitorinhibitor of MyoD family amyogenic repressor I-mf | |
Modification date | 20200327 | 20200327 | |
UniProtAcc | Q9Y5K6 | Q99750 | |
Ensembl transtripts involved in fusion gene | ENST00000359314, ENST00000486693, | ||
Fusion gene scores | * DoF score | 18 X 10 X 12=2160 | 3 X 3 X 3=27 |
# samples | 20 | 4 | |
** MAII score | log2(20/2160*10)=-3.43295940727611 possibly effective Gene in Pan-Cancer Fusion Genes (peGinPCFGs). DoF>8 and MAII<0 | log2(4/27*10)=0.567040592723894 effective Gene in Pan-Cancer Fusion Genes (eGinPCFGs). DoF>8 and MAII>0 | |
Context | PubMed: CD2AP [Title/Abstract] AND MDFI [Title/Abstract] AND fusion [Title/Abstract] | ||
Most frequent breakpoint | CD2AP(47445984)-MDFI(41621056), # samples:1 CD2AP(47445984)-MDFI(41621057), # samples:1 | ||
Anticipated loss of major functional domain due to fusion event. | CD2AP-MDFI seems lost the major protein functional domain in Tgene partner, which is a essential gene due to the frame-shifted ORF. |
* 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 |
![]() * 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. |
Source | Disease | Sample | Hgene | Hchr | Hbp | Hstrand | Tgene | Tchr | Tbp | Tstrand |
ChimerDB4 | COAD | TCGA-AA-A00O-01A | CD2AP | chr6 | 47445984 | + | MDFI | chr6 | 41621057 | + |
ChimerDB4 | COAD | TCGA-AA-A00O | CD2AP | chr6 | 47445984 | + | MDFI | chr6 | 41621056 | + |
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Fusion Gene ORF analysis for CD2AP-MDFI |
![]() * 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 | ENST00000359314 | ENST00000373050 | CD2AP | chr6 | 47445984 | + | MDFI | chr6 | 41621057 | + |
Frame-shift | ENST00000359314 | ENST00000373050 | CD2AP | chr6 | 47445984 | + | MDFI | chr6 | 41621056 | + |
intron-3CDS | ENST00000486693 | ENST00000373050 | CD2AP | chr6 | 47445984 | + | MDFI | chr6 | 41621057 | + |
intron-3CDS | ENST00000486693 | ENST00000373050 | CD2AP | chr6 | 47445984 | + | MDFI | chr6 | 41621056 | + |
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Henst | Tenst | Hgene | Hchr | Hbp | Hstrand | Tgene | Tchr | Tbp | Tstrand | Seq length (transcript) | BP loci (transcript) | Predicted start (transcript) | Predicted stop (transcript) | Seq length (amino acids) |
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Henst | Tenst | Hgene | Hchr | Hbp | Hstrand | Tgene | Tchr | Tbp | Tstrand | No-coding score | Coding score |
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Fusion Genomic Features for CD2AP-MDFI |
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Hgene | Hchr | Hbp | Hstrand | Tgene | Tchr | Tbp | Tstrand | 1-p | p (fusion gene breakpoint) |
CD2AP | chr6 | 47445984 | + | MDFI | chr6 | 41621056 | + | 2.70E-06 | 0.99999726 |
CD2AP | chr6 | 47445984 | + | MDFI | chr6 | 41621056 | + | 2.70E-06 | 0.99999726 |
CD2AP | chr6 | 47445984 | + | MDFI | chr6 | 41621056 | + | 2.70E-06 | 0.99999726 |
CD2AP | chr6 | 47445984 | + | MDFI | chr6 | 41621056 | + | 2.70E-06 | 0.99999726 |
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Fusion Protein Features for CD2AP-MDFI |
![]() Go to FGviewer search page for the most frequent breakpoint (https://ccsmweb.uth.edu/FGviewer/:47445984/:41621056) - FGviewer provides the online visualization of the retention search of the protein functional features across DNA, RNA, protein, and pathological levels. - How to search 1. Put your fusion gene symbol. 2. Press the tab key until there will be shown the breakpoint information filled. 4. Go down and press 'Search' tab twice. 4. Go down to have the hyperlink of the search result. 5. Click the hyperlink. 6. See the FGviewer result for your fusion gene. |
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Hgene | Tgene |
CD2AP | MDFI |
FUNCTION: Seems to act as an adapter protein between membrane proteins and the actin cytoskeleton (PubMed:10339567). In collaboration with CBLC, modulates the rate of RET turnover and may act as regulatory checkpoint that limits the potency of GDNF on neuronal survival. Controls CBLC function, converting it from an inhibitor to a promoter of RET degradation (By similarity). May play a role in receptor clustering and cytoskeletal polarity in the junction between T-cell and antigen-presenting cell (By similarity). May anchor the podocyte slit diaphragm to the actin cytoskeleton in renal glomerolus. Also required for cytokinesis (PubMed:15800069). Plays a role in epithelial cell junctions formation (PubMed:22891260). {ECO:0000250|UniProtKB:F1LRS8, ECO:0000250|UniProtKB:Q9JLQ0, ECO:0000269|PubMed:10339567, ECO:0000269|PubMed:15800069, ECO:0000269|PubMed:22891260}. | FUNCTION: Inhibits the transactivation activity of the Myod family of myogenic factors and represses myogenesis. Acts by associating with Myod family members and retaining them in the cytoplasm by masking their nuclear localization signals. Can also interfere with the DNA-binding activity of Myod family members. Plays an important role in trophoblast and chondrogenic differentiation. Regulates the transcriptional activity of TCF7L1/TCF3 by interacting directly with TCF7L1/TCF3 and preventing it from binding DNA. Binds to the axin complex, resulting in an increase in the level of free beta-catenin. Affects axin regulation of the WNT and JNK signaling pathways (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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Fusion Gene Sequence for CD2AP-MDFI |
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Fusion Gene PPI Analysis for CD2AP-MDFI |
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Hgene | Hgene's interactors | Tgene | Tgene's interactors |
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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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Related Drugs for CD2AP-MDFI |
![]() (DrugBank Version 5.1.8 2021-05-08) |
Partner | Gene | UniProtAcc | DrugBank ID | Drug name | Drug activity | Drug type | Drug status |
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Related Diseases for CD2AP-MDFI |
![]() (DisGeNet 4.0) |
Partner | Gene | Disease ID | Disease name | # pubmeds | Source |
Hgene | CD2AP | C0002395 | Alzheimer's Disease | 3 | CTD_human |
Hgene | CD2AP | C0011265 | Presenile dementia | 3 | CTD_human |
Hgene | CD2AP | C0276496 | Familial Alzheimer Disease (FAD) | 3 | CTD_human |
Hgene | CD2AP | C0494463 | Alzheimer Disease, Late Onset | 3 | CTD_human |
Hgene | CD2AP | C0546126 | Acute Confusional Senile Dementia | 3 | CTD_human |
Hgene | CD2AP | C0750900 | Alzheimer's Disease, Focal Onset | 3 | CTD_human |
Hgene | CD2AP | C0750901 | Alzheimer Disease, Early Onset | 3 | CTD_human |
Hgene | CD2AP | C1842982 | FOCAL SEGMENTAL GLOMERULOSCLEROSIS 3, SUSCEPTIBILITY TO | 2 | GENOMICS_ENGLAND |
Hgene | CD2AP | C1868672 | NEPHROTIC SYNDROME, STEROID-RESISTANT, AUTOSOMAL RECESSIVE | 1 | ORPHANET |