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Fusion gene ID: 13936 |
FusionGeneSummary for FRS2_CHMP1A |
 Fusion gene summary |
| Fusion gene information | Fusion gene name: FRS2_CHMP1A | Fusion gene ID: 13936 | Hgene | Tgene | Gene symbol | FRS2 | CHMP1A | Gene ID | 10818 | 5119 |
| Gene name | fibroblast growth factor receptor substrate 2 | charged multivesicular body protein 1A | |
| Synonyms | FRS1A|FRS2A|FRS2alpha|SNT|SNT-1|SNT1 | CHMP1|PCH8|PCOLN3|PRSM1|VPS46-1|VPS46A | |
| Cytomap | 12q15 | 16q24.3 | |
| Type of gene | protein-coding | protein-coding | |
| Description | fibroblast growth factor receptor substrate 2FGFR signalling adaptorFGFR substrate 2FGFR-signaling adaptor SNTsuc1-associated neurotrophic factor target 1 | charged multivesicular body protein 1acharged multivesicular body protein 1/chromatin modifying protein 1chromatin modifying protein 1Aprocollagen (type III) N-endopeptidaseprotease, metallo, 1, 33kDvacuolar protein sorting-associated protein 46-1 | |
| Modification date | 20180522 | 20180523 | |
| UniProtAcc | Q8WU20 | Q9HD42 | |
| Ensembl transtripts involved in fusion gene | ENST00000299293, ENST00000549921, ENST00000550389, ENST00000397997, | ENST00000397901, ENST00000253475, ENST00000535997, ENST00000550102, ENST00000547614, | |
| Fusion gene scores | * DoF score | 56 X 9 X 12=6048 | 15 X 8 X 9=1080 |
| # samples | 47 | 20 | |
| ** MAII score | log2(47/6048*10)=-3.68572547765607 possibly effective Gene in Pan-Cancer Fusion Genes (peGinPCFGs). DoF>8 and MAII<0 | log2(20/1080*10)=-2.43295940727611 possibly effective Gene in Pan-Cancer Fusion Genes (peGinPCFGs). DoF>8 and MAII<0 | |
| Context | PubMed: FRS2 [Title/Abstract] AND CHMP1A [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 |
| Tgene | CHMP1A | GO:0007076 | mitotic chromosome condensation | 11559747 |
| Tgene | CHMP1A | GO:0016192 | vesicle-mediated transport | 11559748 |
| Tgene | CHMP1A | GO:0016458 | gene silencing | 11559747 |
| Tgene | CHMP1A | GO:0045892 | negative regulation of transcription, DNA-templated | 11559747 |
| 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 |
| TCGA | RV | SARC | TCGA-DX-A3LY-01B | FRS2 | chr12 | 69864310 | + | CHMP1A | chr16 | 89713739 | - |
| * 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 |
| 5UTR-3CDS | ENST00000299293 | ENST00000397901 | FRS2 | chr12 | 69864310 | + | CHMP1A | chr16 | 89713739 | - |
| 5UTR-3CDS | ENST00000299293 | ENST00000253475 | FRS2 | chr12 | 69864310 | + | CHMP1A | chr16 | 89713739 | - |
| 5UTR-3CDS | ENST00000299293 | ENST00000535997 | FRS2 | chr12 | 69864310 | + | CHMP1A | chr16 | 89713739 | - |
| 5UTR-3CDS | ENST00000299293 | ENST00000550102 | FRS2 | chr12 | 69864310 | + | CHMP1A | chr16 | 89713739 | - |
| 5UTR-5UTR | ENST00000299293 | ENST00000547614 | FRS2 | chr12 | 69864310 | + | CHMP1A | chr16 | 89713739 | - |
| 5UTR-3CDS | ENST00000549921 | ENST00000397901 | FRS2 | chr12 | 69864310 | + | CHMP1A | chr16 | 89713739 | - |
| 5UTR-3CDS | ENST00000549921 | ENST00000253475 | FRS2 | chr12 | 69864310 | + | CHMP1A | chr16 | 89713739 | - |
| 5UTR-3CDS | ENST00000549921 | ENST00000535997 | FRS2 | chr12 | 69864310 | + | CHMP1A | chr16 | 89713739 | - |
| 5UTR-3CDS | ENST00000549921 | ENST00000550102 | FRS2 | chr12 | 69864310 | + | CHMP1A | chr16 | 89713739 | - |
| 5UTR-5UTR | ENST00000549921 | ENST00000547614 | FRS2 | chr12 | 69864310 | + | CHMP1A | chr16 | 89713739 | - |
| 5UTR-3CDS | ENST00000550389 | ENST00000397901 | FRS2 | chr12 | 69864310 | + | CHMP1A | chr16 | 89713739 | - |
| 5UTR-3CDS | ENST00000550389 | ENST00000253475 | FRS2 | chr12 | 69864310 | + | CHMP1A | chr16 | 89713739 | - |
| 5UTR-3CDS | ENST00000550389 | ENST00000535997 | FRS2 | chr12 | 69864310 | + | CHMP1A | chr16 | 89713739 | - |
| 5UTR-3CDS | ENST00000550389 | ENST00000550102 | FRS2 | chr12 | 69864310 | + | CHMP1A | chr16 | 89713739 | - |
| 5UTR-5UTR | ENST00000550389 | ENST00000547614 | FRS2 | chr12 | 69864310 | + | CHMP1A | chr16 | 89713739 | - |
| intron-3CDS | ENST00000397997 | ENST00000397901 | FRS2 | chr12 | 69864310 | + | CHMP1A | chr16 | 89713739 | - |
| intron-3CDS | ENST00000397997 | ENST00000253475 | FRS2 | chr12 | 69864310 | + | CHMP1A | chr16 | 89713739 | - |
| intron-3CDS | ENST00000397997 | ENST00000535997 | FRS2 | chr12 | 69864310 | + | CHMP1A | chr16 | 89713739 | - |
| intron-3CDS | ENST00000397997 | ENST00000550102 | FRS2 | chr12 | 69864310 | + | CHMP1A | chr16 | 89713739 | - |
| intron-5UTR | ENST00000397997 | ENST00000547614 | FRS2 | chr12 | 69864310 | + | CHMP1A | chr16 | 89713739 | - |
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FusionProtFeatures for FRS2_CHMP1A |
| Main function of each fusion partner protein. (from UniProt) |
| Hgene | Tgene |
| FRS2 | CHMP1A |
| Adapter protein that links activated FGR and NGFreceptors to downstream signaling pathways. Plays an importantrole in the activation of MAP kinases and in the phosphorylationof PIK3R1, the regulatory subunit of phosphatidylinositol 3-kinase, in response to ligand-mediated activation of FGFR1.Modulates signaling via SHC1 by competing for a common bindingsite on NTRK1. {ECO:0000269|PubMed:12974390,ECO:0000269|PubMed:21765395}. | Probable peripherally associated component of theendosomal sorting required for transport complex III (ESCRT-III)which is involved in multivesicular bodies (MVBs) formation andsorting of endosomal cargo proteins into MVBs. MVBs containintraluminal vesicles (ILVs) that are generated by invaginationand scission from the limiting membrane of the endosome and mostlyare delivered to lysosomes enabling degradation of membraneproteins, such as stimulated growth factor receptors, lysosomalenzymes and lipids. The MVB pathway appears to require thesequential function of ESCRT-O, -I,-II and -III complexes. ESCRT-III proteins mostly dissociate from the invaginating membranebefore the ILV is released. The ESCRT machinery also functions intopologically equivalent membrane fission events, such as theterminal stages of cytokinesis and the budding of envelopedviruses (HIV-1 and other lentiviruses). ESCRT-III proteins arebelieved to mediate the necessary vesicle extrusion and/ormembrane fission activities, possibly in conjunction with the AAAATPase VPS4. Involved in cytokinesis. Involved in recruiting VPS4Aand/or VPS4B to the midbody of dividing cells. May also beinvolved in chromosome condensation. Targets the Polycomb group(PcG) protein BMI1/PCGF4 to regions of condensed chromatin. Mayplay a role in stable cell cycle progression and in PcG genesilencing. {ECO:0000269|PubMed:11559747,ECO:0000269|PubMed:11559748, ECO:0000269|PubMed:19129479,ECO:0000269|PubMed:23045692}. |
| 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 FRS2_CHMP1A |
| 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 FRS2_CHMP1A |
| 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 |
| FRS2 | PTPN11, INSR, SOS1, GRB2, CBL, FGFR1, CRK, NTRK1, NTRK2, NTRK3, RET, PRKCI, FGFR2, FLOT1, SORBS1, SPRY2, LYN, BECN1, RPS6, TMEM17, GAB1, GAB2, CDH1, TRIM25 | CHMP1A | KIAA1715, VPS4A, STAMBP, USP8, NR1I2, VPS4B, CHMP1A, CHMP1B, UBE2I, ATP6V1B1, FBXL18, OAS3, MOV10, NXF1, ZDHHC17, MEOX1, IST1, VSX2, LHX4, ZNF524, CLTC, RAB5C, RAB7A, TFG, GOLT1B, CHMP4B, MCM2, NF2, CHMP5, SIX2, BROX, HMGN2, GPX7, MECP2, HEY2 |
| - 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 FRS2_CHMP1A |
| 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 FRS2_CHMP1A |
| Diseases associated with fusion partners. (DisGeNet 4.0) |
| Partner | Gene | Disease ID | Disease name | # pubmeds | Source |
Copyright 2018-Present -The University of Texas Health Science Center at Houston (UTHealth)
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