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Fusion gene ID: 13345 |
FusionGeneSummary for FGD4_CNTN5 |
 Fusion gene summary |
| Fusion gene information | Fusion gene name: FGD4_CNTN5 | Fusion gene ID: 13345 | Hgene | Tgene | Gene symbol | FGD4 | CNTN5 | Gene ID | 121512 | 53942 |
| Gene name | FYVE, RhoGEF and PH domain containing 4 | contactin 5 | |
| Synonyms | CMT4H|FRABP|ZFYVE6 | HNB-2s|NB-2 | |
| Cytomap | 12p11.21 | 11q22.1 | |
| Type of gene | protein-coding | protein-coding | |
| Description | FYVE, RhoGEF and PH domain-containing protein 4FGD1 family, member 4FGD1-related F-actin-binding proteinactin-filament binding protein frabinzinc finger FYVE domain-containing protein 6 | contactin-5neural adhesion moleculeneural recognition molecule NB-2 | |
| Modification date | 20180519 | 20180522 | |
| UniProtAcc | Q96M96 | O94779 | |
| Ensembl transtripts involved in fusion gene | ENST00000534526, ENST00000531134, ENST00000427716, ENST00000266482, ENST00000546442, ENST00000525053, ENST00000381025, ENST00000472289, ENST00000473513, | ENST00000527185, ENST00000528682, ENST00000524871, ENST00000418526, ENST00000279463, ENST00000524560, | |
| Fusion gene scores | * DoF score | 14 X 9 X 12=1512 | 16 X 11 X 12=2112 |
| # samples | 15 | 16 | |
| ** MAII score | log2(15/1512*10)=-3.33342373372519 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: FGD4 [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) |
| 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 |
| 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 | READ | TCGA-AF-6655-01A | FGD4 | chr12 | 32655272 | + | CNTN5 | chr11 | 99426876 | + |
| * 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 |
| intron-5UTR | ENST00000534526 | ENST00000527185 | FGD4 | chr12 | 32655272 | + | CNTN5 | chr11 | 99426876 | + |
| intron-5UTR | ENST00000534526 | ENST00000528682 | FGD4 | chr12 | 32655272 | + | CNTN5 | chr11 | 99426876 | + |
| intron-5UTR | ENST00000534526 | ENST00000524871 | FGD4 | chr12 | 32655272 | + | CNTN5 | chr11 | 99426876 | + |
| intron-5UTR | ENST00000534526 | ENST00000418526 | FGD4 | chr12 | 32655272 | + | CNTN5 | chr11 | 99426876 | + |
| intron-intron | ENST00000534526 | ENST00000279463 | FGD4 | chr12 | 32655272 | + | CNTN5 | chr11 | 99426876 | + |
| intron-intron | ENST00000534526 | ENST00000524560 | FGD4 | chr12 | 32655272 | + | CNTN5 | chr11 | 99426876 | + |
| intron-5UTR | ENST00000531134 | ENST00000527185 | FGD4 | chr12 | 32655272 | + | CNTN5 | chr11 | 99426876 | + |
| intron-5UTR | ENST00000531134 | ENST00000528682 | FGD4 | chr12 | 32655272 | + | CNTN5 | chr11 | 99426876 | + |
| intron-5UTR | ENST00000531134 | ENST00000524871 | FGD4 | chr12 | 32655272 | + | CNTN5 | chr11 | 99426876 | + |
| intron-5UTR | ENST00000531134 | ENST00000418526 | FGD4 | chr12 | 32655272 | + | CNTN5 | chr11 | 99426876 | + |
| intron-intron | ENST00000531134 | ENST00000279463 | FGD4 | chr12 | 32655272 | + | CNTN5 | chr11 | 99426876 | + |
| intron-intron | ENST00000531134 | ENST00000524560 | FGD4 | chr12 | 32655272 | + | CNTN5 | chr11 | 99426876 | + |
| 5UTR-5UTR | ENST00000427716 | ENST00000527185 | FGD4 | chr12 | 32655272 | + | CNTN5 | chr11 | 99426876 | + |
| 5UTR-5UTR | ENST00000427716 | ENST00000528682 | FGD4 | chr12 | 32655272 | + | CNTN5 | chr11 | 99426876 | + |
| 5UTR-5UTR | ENST00000427716 | ENST00000524871 | FGD4 | chr12 | 32655272 | + | CNTN5 | chr11 | 99426876 | + |
| 5UTR-5UTR | ENST00000427716 | ENST00000418526 | FGD4 | chr12 | 32655272 | + | CNTN5 | chr11 | 99426876 | + |
| 5UTR-intron | ENST00000427716 | ENST00000279463 | FGD4 | chr12 | 32655272 | + | CNTN5 | chr11 | 99426876 | + |
| 5UTR-intron | ENST00000427716 | ENST00000524560 | FGD4 | chr12 | 32655272 | + | CNTN5 | chr11 | 99426876 | + |
| 5UTR-5UTR | ENST00000266482 | ENST00000527185 | FGD4 | chr12 | 32655272 | + | CNTN5 | chr11 | 99426876 | + |
| 5UTR-5UTR | ENST00000266482 | ENST00000528682 | FGD4 | chr12 | 32655272 | + | CNTN5 | chr11 | 99426876 | + |
| 5UTR-5UTR | ENST00000266482 | ENST00000524871 | FGD4 | chr12 | 32655272 | + | CNTN5 | chr11 | 99426876 | + |
| 5UTR-5UTR | ENST00000266482 | ENST00000418526 | FGD4 | chr12 | 32655272 | + | CNTN5 | chr11 | 99426876 | + |
| 5UTR-intron | ENST00000266482 | ENST00000279463 | FGD4 | chr12 | 32655272 | + | CNTN5 | chr11 | 99426876 | + |
| 5UTR-intron | ENST00000266482 | ENST00000524560 | FGD4 | chr12 | 32655272 | + | CNTN5 | chr11 | 99426876 | + |
| 5UTR-5UTR | ENST00000546442 | ENST00000527185 | FGD4 | chr12 | 32655272 | + | CNTN5 | chr11 | 99426876 | + |
| 5UTR-5UTR | ENST00000546442 | ENST00000528682 | FGD4 | chr12 | 32655272 | + | CNTN5 | chr11 | 99426876 | + |
| 5UTR-5UTR | ENST00000546442 | ENST00000524871 | FGD4 | chr12 | 32655272 | + | CNTN5 | chr11 | 99426876 | + |
| 5UTR-5UTR | ENST00000546442 | ENST00000418526 | FGD4 | chr12 | 32655272 | + | CNTN5 | chr11 | 99426876 | + |
| 5UTR-intron | ENST00000546442 | ENST00000279463 | FGD4 | chr12 | 32655272 | + | CNTN5 | chr11 | 99426876 | + |
| 5UTR-intron | ENST00000546442 | ENST00000524560 | FGD4 | chr12 | 32655272 | + | CNTN5 | chr11 | 99426876 | + |
| intron-5UTR | ENST00000525053 | ENST00000527185 | FGD4 | chr12 | 32655272 | + | CNTN5 | chr11 | 99426876 | + |
| intron-5UTR | ENST00000525053 | ENST00000528682 | FGD4 | chr12 | 32655272 | + | CNTN5 | chr11 | 99426876 | + |
| intron-5UTR | ENST00000525053 | ENST00000524871 | FGD4 | chr12 | 32655272 | + | CNTN5 | chr11 | 99426876 | + |
| intron-5UTR | ENST00000525053 | ENST00000418526 | FGD4 | chr12 | 32655272 | + | CNTN5 | chr11 | 99426876 | + |
| intron-intron | ENST00000525053 | ENST00000279463 | FGD4 | chr12 | 32655272 | + | CNTN5 | chr11 | 99426876 | + |
| intron-intron | ENST00000525053 | ENST00000524560 | FGD4 | chr12 | 32655272 | + | CNTN5 | chr11 | 99426876 | + |
| intron-5UTR | ENST00000381025 | ENST00000527185 | FGD4 | chr12 | 32655272 | + | CNTN5 | chr11 | 99426876 | + |
| intron-5UTR | ENST00000381025 | ENST00000528682 | FGD4 | chr12 | 32655272 | + | CNTN5 | chr11 | 99426876 | + |
| intron-5UTR | ENST00000381025 | ENST00000524871 | FGD4 | chr12 | 32655272 | + | CNTN5 | chr11 | 99426876 | + |
| intron-5UTR | ENST00000381025 | ENST00000418526 | FGD4 | chr12 | 32655272 | + | CNTN5 | chr11 | 99426876 | + |
| intron-intron | ENST00000381025 | ENST00000279463 | FGD4 | chr12 | 32655272 | + | CNTN5 | chr11 | 99426876 | + |
| intron-intron | ENST00000381025 | ENST00000524560 | FGD4 | chr12 | 32655272 | + | CNTN5 | chr11 | 99426876 | + |
| 5UTR-5UTR | ENST00000472289 | ENST00000527185 | FGD4 | chr12 | 32655272 | + | CNTN5 | chr11 | 99426876 | + |
| 5UTR-5UTR | ENST00000472289 | ENST00000528682 | FGD4 | chr12 | 32655272 | + | CNTN5 | chr11 | 99426876 | + |
| 5UTR-5UTR | ENST00000472289 | ENST00000524871 | FGD4 | chr12 | 32655272 | + | CNTN5 | chr11 | 99426876 | + |
| 5UTR-5UTR | ENST00000472289 | ENST00000418526 | FGD4 | chr12 | 32655272 | + | CNTN5 | chr11 | 99426876 | + |
| 5UTR-intron | ENST00000472289 | ENST00000279463 | FGD4 | chr12 | 32655272 | + | CNTN5 | chr11 | 99426876 | + |
| 5UTR-intron | ENST00000472289 | ENST00000524560 | FGD4 | chr12 | 32655272 | + | CNTN5 | chr11 | 99426876 | + |
| 3UTR-5UTR | ENST00000473513 | ENST00000527185 | FGD4 | chr12 | 32655272 | + | CNTN5 | chr11 | 99426876 | + |
| 3UTR-5UTR | ENST00000473513 | ENST00000528682 | FGD4 | chr12 | 32655272 | + | CNTN5 | chr11 | 99426876 | + |
| 3UTR-5UTR | ENST00000473513 | ENST00000524871 | FGD4 | chr12 | 32655272 | + | CNTN5 | chr11 | 99426876 | + |
| 3UTR-5UTR | ENST00000473513 | ENST00000418526 | FGD4 | chr12 | 32655272 | + | CNTN5 | chr11 | 99426876 | + |
| 3UTR-intron | ENST00000473513 | ENST00000279463 | FGD4 | chr12 | 32655272 | + | CNTN5 | chr11 | 99426876 | + |
| 3UTR-intron | ENST00000473513 | ENST00000524560 | FGD4 | chr12 | 32655272 | + | CNTN5 | chr11 | 99426876 | + |
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FusionProtFeatures for FGD4_CNTN5 |
| Main function of each fusion partner protein. (from UniProt) |
| Hgene | Tgene |
| FGD4 | CNTN5 |
| Activates CDC42, a member of the Ras-like family ofRho- and Rac proteins, by exchanging bound GDP for free GTP. Playsa role in regulating the actin cytoskeleton and cell shape.Activates MAPK8 (By similarity). {ECO:0000250,ECO:0000269|PubMed:15133042}. | 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}. |
| 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 FGD4_CNTN5 |
| 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 FGD4_CNTN5 |
| 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 |
| FGD4 | CAPZA2, FGD3, PRKCA | CNTN5 | ACAD11 |
| - 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 FGD4_CNTN5 |
| 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 FGD4_CNTN5 |
| Diseases associated with fusion partners. (DisGeNet 4.0) |
| Partner | Gene | Disease ID | Disease name | # pubmeds | Source |
| Hgene | FGD4 | C1836336 | CHARCOT-MARIE-TOOTH DISEASE, TYPE 4H | 2 | CTD_human;ORPHANET;UNIPROT |
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