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Fusion gene ID: 13187 |
FusionGeneSummary for FBXO42_SHANK3 |
 Fusion gene summary |
| Fusion gene information | Fusion gene name: FBXO42_SHANK3 | Fusion gene ID: 13187 | Hgene | Tgene | Gene symbol | FBXO42 | SHANK3 | Gene ID | 54455 | 85358 |
| Gene name | F-box protein 42 | SH3 and multiple ankyrin repeat domains 3 | |
| Synonyms | Fbx42|JFK | DEL22q13.3|PROSAP2|PSAP2|SCZD15|SPANK-2 | |
| Cytomap | 1p36.13 | 22q13.33 | |
| Type of gene | protein-coding | protein-coding | |
| Description | F-box only protein 42just one F-box and Kelch domain-containing protein | SH3 and multiple ankyrin repeat domains protein 3proline rich synapse associated protein 2shank postsynaptic density protein | |
| Modification date | 20180519 | 20180523 | |
| UniProtAcc | Q6P3S6 | ||
| Ensembl transtripts involved in fusion gene | ENST00000375592, ENST00000478089, | ENST00000414786, ENST00000445220, ENST00000262795, | |
| Fusion gene scores | * DoF score | 8 X 8 X 8=512 | 4 X 4 X 3=48 |
| # samples | 12 | 4 | |
| ** MAII score | log2(12/512*10)=-2.09310940439148 possibly effective Gene in Pan-Cancer Fusion Genes (peGinPCFGs). DoF>8 and MAII<0 | log2(4/48*10)=-0.263034405833794 possibly effective Gene in Pan-Cancer Fusion Genes (peGinPCFGs). DoF>8 and MAII<0 | |
| Context | PubMed: FBXO42 [Title/Abstract] AND SHANK3 [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 |
| ChiTaRS3.1 | BF155428 | FBXO42 | chr1 | 16665992 | + | SHANK3 | chr22 | 51122465 | + |
| * 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-intron | ENST00000375592 | ENST00000414786 | FBXO42 | chr1 | 16665992 | + | SHANK3 | chr22 | 51122465 | + |
| intron-intron | ENST00000375592 | ENST00000445220 | FBXO42 | chr1 | 16665992 | + | SHANK3 | chr22 | 51122465 | + |
| intron-intron | ENST00000375592 | ENST00000262795 | FBXO42 | chr1 | 16665992 | + | SHANK3 | chr22 | 51122465 | + |
| intron-intron | ENST00000478089 | ENST00000414786 | FBXO42 | chr1 | 16665992 | + | SHANK3 | chr22 | 51122465 | + |
| intron-intron | ENST00000478089 | ENST00000445220 | FBXO42 | chr1 | 16665992 | + | SHANK3 | chr22 | 51122465 | + |
| intron-intron | ENST00000478089 | ENST00000262795 | FBXO42 | chr1 | 16665992 | + | SHANK3 | chr22 | 51122465 | + |
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FusionProtFeatures for FBXO42_SHANK3 |
| Main function of each fusion partner protein. (from UniProt) |
| Hgene | Tgene |
| FBXO42 | SHANK3 |
| Substrate-recognition component of some SCF (SKP1-CUL1-F-box protein)-type E3 ubiquitin ligase complex. Specificallyrecognizes p53/TP53, promoting its ubiquitination and degradation.{ECO:0000269|PubMed:19509332}. | Lectin that binds to various sugars: galactose > mannose= fucose > N-acetylglucosamine > N-acetylgalactosamine(PubMed:10224141). Acts as a chemoattractant, probably involved inthe regulation of cell migration (PubMed:28301481).{ECO:0000269|PubMed:10224141, ECO:0000269|PubMed:28301481}. |
| 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 FBXO42_SHANK3 |
| 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 FBXO42_SHANK3 |
| 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 FBXO42_SHANK3 |
| 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 FBXO42_SHANK3 |
| Diseases associated with fusion partners. (DisGeNet 4.0) |
| Partner | Gene | Disease ID | Disease name | # pubmeds | Source |
| Tgene | SHANK3 | C0004352 | Autistic Disorder | 2 | CTD_human |
| Tgene | SHANK3 | C0023014 | Language Development Disorders | 2 | CTD_human |
| Tgene | SHANK3 | C1510586 | Autism Spectrum Disorders | 2 | CTD_human |
| Tgene | SHANK3 | C0008073 | Developmental Disabilities | 1 | CTD_human |
| Tgene | SHANK3 | C0338831 | Manic | 1 | PSYGENET |
| Tgene | SHANK3 | C0564408 | Manic mood | 1 | PSYGENET |
| Tgene | SHANK3 | C1853490 | 22q13.3 Deletion Syndrome | 1 | ORPHANET;UNIPROT |
| Tgene | SHANK3 | C3151380 | SCHIZOPHRENIA 15 | 1 | UNIPROT |
| Tgene | SHANK3 | C3714756 | Intellectual Disability | 1 | CTD_human |
| Tgene | SHANK3 | C4048800 | Telomeric 22q13 Monosomy Syndrome | 1 | CTD_human |
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