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Fusion gene ID: 7111 |
FusionGeneSummary for CHMP4A_TM9SF1 |
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Fusion gene information | Fusion gene name: CHMP4A_TM9SF1 | Fusion gene ID: 7111 | Hgene | Tgene | Gene symbol | CHMP4A | TM9SF1 | Gene ID | 128866 | 10548 |
Gene name | charged multivesicular body protein 4B | transmembrane 9 superfamily member 1 | |
Synonyms | C20orf178|CHMP4A|CTPP3|CTRCT31|SNF7|SNF7-2|Shax1|VPS32B|Vps32-2|dJ553F4.4 | HMP70|MP70 | |
Cytomap | 20q11.22 | 14q12 | |
Type of gene | protein-coding | protein-coding | |
Description | charged multivesicular body protein 4bSNF7 homolog associated with Alix 1Snf7 homologue associated with Alix 1chromatin modifying protein 4Bchromatin-modifying protein 4bhSnf7-2hVps32-2vacuolar protein-sorting-associated protein 32-2 | transmembrane 9 superfamily member 1MP70 protein family membermultispanning membrane protein (70kD)transmembrane protein 9 superfamily member 1 | |
Modification date | 20180522 | 20180523 | |
UniProtAcc | Q9BY43 | O15321 | |
Ensembl transtripts involved in fusion gene | ENST00000347519, ENST00000530996, ENST00000542700, ENST00000609024, | ENST00000261789, ENST00000528669, ENST00000556387, ENST00000530611, ENST00000524835, ENST00000396854, | |
Fusion gene scores | * DoF score | 1 X 1 X 1=1 | 2 X 2 X 2=8 |
# samples | 1 | 2 | |
** MAII score | log2(1/1*10)=3.32192809488736 | log2(2/8*10)=1.32192809488736 | |
Context | PubMed: CHMP4A [Title/Abstract] AND TM9SF1 [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 | CHMP4A | GO:0039702 | viral budding via host ESCRT complex | 24878737 |
Hgene | CHMP4A | GO:0051260 | protein homooligomerization | 18209100 |
![]() (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 | BF312811 | CHMP4A | chr14 | 24684997 | + | TM9SF1 | chr14 | 24684871 | - |
* 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 |
intron-intron | ENST00000347519 | ENST00000261789 | CHMP4A | chr14 | 24684997 | + | TM9SF1 | chr14 | 24684871 | - |
intron-intron | ENST00000347519 | ENST00000528669 | CHMP4A | chr14 | 24684997 | + | TM9SF1 | chr14 | 24684871 | - |
intron-intron | ENST00000347519 | ENST00000556387 | CHMP4A | chr14 | 24684997 | + | TM9SF1 | chr14 | 24684871 | - |
intron-intron | ENST00000347519 | ENST00000530611 | CHMP4A | chr14 | 24684997 | + | TM9SF1 | chr14 | 24684871 | - |
intron-intron | ENST00000347519 | ENST00000524835 | CHMP4A | chr14 | 24684997 | + | TM9SF1 | chr14 | 24684871 | - |
intron-intron | ENST00000347519 | ENST00000396854 | CHMP4A | chr14 | 24684997 | + | TM9SF1 | chr14 | 24684871 | - |
intron-intron | ENST00000530996 | ENST00000261789 | CHMP4A | chr14 | 24684997 | + | TM9SF1 | chr14 | 24684871 | - |
intron-intron | ENST00000530996 | ENST00000528669 | CHMP4A | chr14 | 24684997 | + | TM9SF1 | chr14 | 24684871 | - |
intron-intron | ENST00000530996 | ENST00000556387 | CHMP4A | chr14 | 24684997 | + | TM9SF1 | chr14 | 24684871 | - |
intron-intron | ENST00000530996 | ENST00000530611 | CHMP4A | chr14 | 24684997 | + | TM9SF1 | chr14 | 24684871 | - |
intron-intron | ENST00000530996 | ENST00000524835 | CHMP4A | chr14 | 24684997 | + | TM9SF1 | chr14 | 24684871 | - |
intron-intron | ENST00000530996 | ENST00000396854 | CHMP4A | chr14 | 24684997 | + | TM9SF1 | chr14 | 24684871 | - |
intron-intron | ENST00000542700 | ENST00000261789 | CHMP4A | chr14 | 24684997 | + | TM9SF1 | chr14 | 24684871 | - |
intron-intron | ENST00000542700 | ENST00000528669 | CHMP4A | chr14 | 24684997 | + | TM9SF1 | chr14 | 24684871 | - |
intron-intron | ENST00000542700 | ENST00000556387 | CHMP4A | chr14 | 24684997 | + | TM9SF1 | chr14 | 24684871 | - |
intron-intron | ENST00000542700 | ENST00000530611 | CHMP4A | chr14 | 24684997 | + | TM9SF1 | chr14 | 24684871 | - |
intron-intron | ENST00000542700 | ENST00000524835 | CHMP4A | chr14 | 24684997 | + | TM9SF1 | chr14 | 24684871 | - |
intron-intron | ENST00000542700 | ENST00000396854 | CHMP4A | chr14 | 24684997 | + | TM9SF1 | chr14 | 24684871 | - |
intron-intron | ENST00000609024 | ENST00000261789 | CHMP4A | chr14 | 24684997 | + | TM9SF1 | chr14 | 24684871 | - |
intron-intron | ENST00000609024 | ENST00000528669 | CHMP4A | chr14 | 24684997 | + | TM9SF1 | chr14 | 24684871 | - |
intron-intron | ENST00000609024 | ENST00000556387 | CHMP4A | chr14 | 24684997 | + | TM9SF1 | chr14 | 24684871 | - |
intron-intron | ENST00000609024 | ENST00000530611 | CHMP4A | chr14 | 24684997 | + | TM9SF1 | chr14 | 24684871 | - |
intron-intron | ENST00000609024 | ENST00000524835 | CHMP4A | chr14 | 24684997 | + | TM9SF1 | chr14 | 24684871 | - |
intron-intron | ENST00000609024 | ENST00000396854 | CHMP4A | chr14 | 24684997 | + | TM9SF1 | chr14 | 24684871 | - |
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FusionProtFeatures for CHMP4A_TM9SF1 |
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Hgene | Tgene |
CHMP4A | TM9SF1 |
Probable core component of the endosomal sortingrequired for transport complex III (ESCRT-III) which is involvedin multivesicular bodies (MVBs) formation and sorting of endosomalcargo proteins into MVBs. MVBs contain intraluminal vesicles(ILVs) that are generated by invagination and scission from thelimiting membrane of the endosome and mostly are delivered tolysosomes enabling degradation of membrane proteins, such asstimulated growth factor receptors, lysosomal enzymes and lipids.The MVB pathway appears to require the sequential function ofESCRT-O, -I,-II and -III complexes. ESCRT-III proteins mostlydissociate from the invaginating membrane before the ILV isreleased. The ESCRT machinery also functions in topologicallyequivalent membrane fission events, such as the terminal stages ofcytokinesis and the budding of enveloped viruses (HIV-1 and otherlentiviruses). ESCRT-III proteins are believed to mediate thenecessary vesicle extrusion and/or membrane fission activities,possibly in conjunction with the AAA ATPase VPS4. Whenoverexpressed, membrane-assembled circular arrays of CHMP4Afilaments can promote or stabilize negative curvature and outwardbudding. Via its interaction with PDCD6IP involved in HIV-1p6- and p9-dependent virus release. CHMP4A/B/C are required forthe exosomal release of SDCBP, CD63 and syndecan(PubMed:22660413). {ECO:0000269|PubMed:12860994,ECO:0000269|PubMed:14505569, ECO:0000269|PubMed:14519844,ECO:0000269|PubMed:14583093, ECO:0000269|PubMed:18209100,ECO:0000269|PubMed:22660413}. | Plays an essential role in autophagy.{ECO:0000269|PubMed:19029833}. |
![]() * 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 CHMP4A_TM9SF1 |
![]() (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 CHMP4A_TM9SF1 |
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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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RelatedDrugs for CHMP4A_TM9SF1 |
![]() (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 CHMP4A_TM9SF1 |
![]() (DisGeNet 4.0) |
Partner | Gene | Disease ID | Disease name | # pubmeds | Source |