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Fusion gene ID: 34981 |
FusionGeneSummary for SMU1_AFAP1 |
 Fusion gene summary |
| Fusion gene information | Fusion gene name: SMU1_AFAP1 | Fusion gene ID: 34981 | Hgene | Tgene | Gene symbol | SMU1 | AFAP1 | Gene ID | 55234 | 60312 |
| Gene name | SMU1, DNA replication regulator and spliceosomal factor | actin filament associated protein 1 | |
| Synonyms | BWD|SMU-1|fSAP57 | AFAP|AFAP-110|AFAP110 | |
| Cytomap | 9p21.1 | 4p16.1 | |
| Type of gene | protein-coding | protein-coding | |
| Description | WD40 repeat-containing protein SMU1DNA replication regulator and spliceosomal factorbrain-enriched WD-repeat proteinfunctional spliceosome-associated protein 57smu-1 suppressor of mec-8 and unc-52 homologsmu-1 suppressor of mec-8 and unc-52 protein h | actin filament-associated protein 1110 kDa actin filament-associated proteinactin filament-associated protein, 110 kDa | |
| Modification date | 20180523 | 20180519 | |
| UniProtAcc | Q2TAY7 | Q8N556 | |
| Ensembl transtripts involved in fusion gene | ENST00000397149, ENST00000536631, | ENST00000360265, ENST00000358461, ENST00000420658, ENST00000382543, ENST00000513842, | |
| Fusion gene scores | * DoF score | 5 X 4 X 4=80 | 2 X 2 X 2=8 |
| # samples | 5 | 2 | |
| ** MAII score | log2(5/80*10)=-0.678071905112638 possibly effective Gene in Pan-Cancer Fusion Genes (peGinPCFGs). DoF>8 and MAII<0 | log2(2/8*10)=1.32192809488736 | |
| Context | PubMed: SMU1 [Title/Abstract] AND AFAP1 [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 |
| Hgene | SMU1 | GO:0000398 | mRNA splicing, via spliceosome | 28781166 |
| 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 | LUSC | TCGA-63-A5MV-01A | SMU1 | chr9 | 33068822 | - | AFAP1 | chr4 | 7873807 | - |
| * 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 |
| 5CDS-5UTR | ENST00000397149 | ENST00000360265 | SMU1 | chr9 | 33068822 | - | AFAP1 | chr4 | 7873807 | - |
| 5CDS-5UTR | ENST00000397149 | ENST00000358461 | SMU1 | chr9 | 33068822 | - | AFAP1 | chr4 | 7873807 | - |
| 5CDS-5UTR | ENST00000397149 | ENST00000420658 | SMU1 | chr9 | 33068822 | - | AFAP1 | chr4 | 7873807 | - |
| 5CDS-5UTR | ENST00000397149 | ENST00000382543 | SMU1 | chr9 | 33068822 | - | AFAP1 | chr4 | 7873807 | - |
| 5CDS-intron | ENST00000397149 | ENST00000513842 | SMU1 | chr9 | 33068822 | - | AFAP1 | chr4 | 7873807 | - |
| 5CDS-5UTR | ENST00000536631 | ENST00000360265 | SMU1 | chr9 | 33068822 | - | AFAP1 | chr4 | 7873807 | - |
| 5CDS-5UTR | ENST00000536631 | ENST00000358461 | SMU1 | chr9 | 33068822 | - | AFAP1 | chr4 | 7873807 | - |
| 5CDS-5UTR | ENST00000536631 | ENST00000420658 | SMU1 | chr9 | 33068822 | - | AFAP1 | chr4 | 7873807 | - |
| 5CDS-5UTR | ENST00000536631 | ENST00000382543 | SMU1 | chr9 | 33068822 | - | AFAP1 | chr4 | 7873807 | - |
| 5CDS-intron | ENST00000536631 | ENST00000513842 | SMU1 | chr9 | 33068822 | - | AFAP1 | chr4 | 7873807 | - |
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FusionProtFeatures for SMU1_AFAP1 |
| Main function of each fusion partner protein. (from UniProt) |
| Hgene | Tgene |
| SMU1 | AFAP1 |
| Auxiliary spliceosomal protein that regulates selectionof alternative splice sites in a small set of target pre-mRNAspecies (Probable). Regulates alternative splicing of the HSPG2pre-mRNA (By similarity). Required for normal mitotic spindleassembly and normal progress through mitosis (PubMed:15878348).Required for normal accumulation of IK (PubMed:24945353).{ECO:0000250|UniProtKB:Q76B40, ECO:0000269|PubMed:15878348,ECO:0000269|PubMed:24945353, ECO:0000305}. (Microbial infection) Required, together with IK, fornormal splicing of influenza A virus NS1 pre-mRNA, which isrequired for the production of the exportin NS2 and for theproduction of influenza A virus particles. Not required for theproduction of VSV virus particles. {ECO:0000269|PubMed:24945353}. | Can cross-link actin filaments into both network andbundle structures (By similarity). May modulate changes in actinfilament integrity and induce lamellipodia formation. May functionas an adapter molecule that links other proteins, such as SRC andPKC to the actin cytoskeleton. Seems to play a role in thedevelopment and progression of prostate adenocarcinoma byregulating cell-matrix adhesions and migration in the cancercells. {ECO:0000250, ECO:0000269|PubMed:15485829}. |
| 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 SMU1_AFAP1 |
| 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 SMU1_AFAP1 |
| 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 |
| SMU1 | RAE1, CUL4B, SIRT7, CUL3, RBM39, SRSF1, SRSF3, ACIN1, SRSF5, SRSF11, RNPS1, PRPF8, SF3B3, LUC7L3, SAP18, HNRNPU, MATR3, HNRNPC, SAFB, RANBP2, VTN, KDM4B, NCSTN, RABEP1, ZC3H18, PHGDH, TFPI, EMD, SRSF10, TPBG, YBX1, LSM4, LSM8, MFAP1, IK, CD2BP2, GRB2, MRFAP1L1, CUL7, OBSL1, BMI1, FAM172A, FOXK2, IFI16, XPO1, SNCA, TSNAX, FBXW7, SNRNP200, RIOK1, PRPF6, EFTUD2, G3BP1, RNF157 | AFAP1 | AFAP1, ACTC1, PRKCB, PRKCE, PRKCG, PRKCD, PRKCA, MYC, NXF1, BRCA1, CAPZA2, CDK2, DBN1, FLNA, GAK, MYH9, MYO1C, PPP1CB, IQGAP1, SYNPO, MAPRE1, TPX2, LIMA1, ANLN, MYO5C, MYO19, MYO18A, EXT2, TRIM25, TES |
| - 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 SMU1_AFAP1 |
| 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 SMU1_AFAP1 |
| 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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