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Fusion gene ID: 9960 |
FusionGeneSummary for DIAPH1_CYSTM1 |
 Fusion gene summary |
| Fusion gene information | Fusion gene name: DIAPH1_CYSTM1 | Fusion gene ID: 9960 | Hgene | Tgene | Gene symbol | DIAPH1 | CYSTM1 | Gene ID | 1729 | 84418 |
| Gene name | diaphanous related formin 1 | cysteine rich transmembrane module containing 1 | |
| Synonyms | DFNA1|DIA1|DRF1|LFHL1|SCBMS|hDIA1 | C5orf32|ORF1-FL49 | |
| Cytomap | 5q31.3 | 5q31.3 | |
| Type of gene | protein-coding | protein-coding | |
| Description | protein diaphanous homolog 1 | cysteine-rich and transmembrane domain-containing protein 1UPF0467 protein C5orf32putative nuclear protein ORF1-FL49 | |
| Modification date | 20180527 | 20180519 | |
| UniProtAcc | O60610 | Q9H1C7 | |
| Ensembl transtripts involved in fusion gene | ENST00000389054, ENST00000520569, ENST00000253811, ENST00000398566, ENST00000398562, ENST00000398557, ENST00000389057, ENST00000518047, ENST00000494967, | ENST00000261811, ENST00000509789, | |
| Fusion gene scores | * DoF score | 1 X 1 X 1=1 | 8 X 5 X 7=280 |
| # samples | 1 | 8 | |
| ** MAII score | log2(1/1*10)=3.32192809488736 | log2(8/280*10)=-1.8073549220576 possibly effective Gene in Pan-Cancer Fusion Genes (peGinPCFGs). DoF>8 and MAII<0 | |
| Context | PubMed: DIAPH1 [Title/Abstract] AND CYSTM1 [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 | LD | LUSC | TCGA-66-2768-01A | DIAPH1 | chr5 | 140998365 | - | CYSTM1 | chr5 | 139622890 | + |
| * 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 |
| Frame-shift | ENST00000389054 | ENST00000261811 | DIAPH1 | chr5 | 140998365 | - | CYSTM1 | chr5 | 139622890 | + |
| 5CDS-3UTR | ENST00000389054 | ENST00000509789 | DIAPH1 | chr5 | 140998365 | - | CYSTM1 | chr5 | 139622890 | + |
| intron-3CDS | ENST00000520569 | ENST00000261811 | DIAPH1 | chr5 | 140998365 | - | CYSTM1 | chr5 | 139622890 | + |
| intron-3UTR | ENST00000520569 | ENST00000509789 | DIAPH1 | chr5 | 140998365 | - | CYSTM1 | chr5 | 139622890 | + |
| Frame-shift | ENST00000253811 | ENST00000261811 | DIAPH1 | chr5 | 140998365 | - | CYSTM1 | chr5 | 139622890 | + |
| 5CDS-3UTR | ENST00000253811 | ENST00000509789 | DIAPH1 | chr5 | 140998365 | - | CYSTM1 | chr5 | 139622890 | + |
| Frame-shift | ENST00000398566 | ENST00000261811 | DIAPH1 | chr5 | 140998365 | - | CYSTM1 | chr5 | 139622890 | + |
| 5CDS-3UTR | ENST00000398566 | ENST00000509789 | DIAPH1 | chr5 | 140998365 | - | CYSTM1 | chr5 | 139622890 | + |
| Frame-shift | ENST00000398562 | ENST00000261811 | DIAPH1 | chr5 | 140998365 | - | CYSTM1 | chr5 | 139622890 | + |
| 5CDS-3UTR | ENST00000398562 | ENST00000509789 | DIAPH1 | chr5 | 140998365 | - | CYSTM1 | chr5 | 139622890 | + |
| Frame-shift | ENST00000398557 | ENST00000261811 | DIAPH1 | chr5 | 140998365 | - | CYSTM1 | chr5 | 139622890 | + |
| 5CDS-3UTR | ENST00000398557 | ENST00000509789 | DIAPH1 | chr5 | 140998365 | - | CYSTM1 | chr5 | 139622890 | + |
| Frame-shift | ENST00000389057 | ENST00000261811 | DIAPH1 | chr5 | 140998365 | - | CYSTM1 | chr5 | 139622890 | + |
| 5CDS-3UTR | ENST00000389057 | ENST00000509789 | DIAPH1 | chr5 | 140998365 | - | CYSTM1 | chr5 | 139622890 | + |
| Frame-shift | ENST00000518047 | ENST00000261811 | DIAPH1 | chr5 | 140998365 | - | CYSTM1 | chr5 | 139622890 | + |
| 5CDS-3UTR | ENST00000518047 | ENST00000509789 | DIAPH1 | chr5 | 140998365 | - | CYSTM1 | chr5 | 139622890 | + |
| intron-3CDS | ENST00000494967 | ENST00000261811 | DIAPH1 | chr5 | 140998365 | - | CYSTM1 | chr5 | 139622890 | + |
| intron-3UTR | ENST00000494967 | ENST00000509789 | DIAPH1 | chr5 | 140998365 | - | CYSTM1 | chr5 | 139622890 | + |
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FusionProtFeatures for DIAPH1_CYSTM1 |
| Main function of each fusion partner protein. (from UniProt) |
| Hgene | Tgene |
| DIAPH1 | CYSTM1 |
| Acts in a Rho-dependent manner to recruit PFY1 to themembrane. Required for the assembly of F-actin structures, such asactin cables and stress fibers. Nucleates actin filaments. Bindsto the barbed end of the actin filament and slows down actinpolymerization and depolymerization. Required for cytokinesis, andtranscriptional activation of the serum response factor. DFRproteins couple Rho and Src tyrosine kinase during signaling andthe regulation of actin dynamics. Functions as a scaffold proteinfor MAPRE1 and APC to stabilize microtubules and promote cellmigration (By similarity). Has neurite outgrowth promotingactivity (By similarity). In hear cells, it may play a role in theregulation of actin polymerization in hair cells. The MEMO1-RHOA-DIAPH1 signaling pathway plays an important role in ERBB2-dependent stabilization of microtubules at the cell cortex. Itcontrols the localization of APC and CLASP2 to the cell membrane,via the regulation of GSK3B activity. In turn, membrane-bound APCallows the localization of the MACF1 to the cell membrane, whichis required for microtubule capture and stabilization. Plays arole in the regulation of cell morphology and cytoskeletalorganization. Required in the control of cell shape(PubMed:20937854, PubMed:21834987). Plays a role in braindevelopment (PubMed:24781755). {ECO:0000250|UniProtKB:O08808,ECO:0000269|PubMed:20937854, ECO:0000269|PubMed:21834987,ECO:0000269|PubMed:24781755, ECO:0000269|PubMed:26912466}. |
| 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 DIAPH1_CYSTM1 |
| 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 DIAPH1_CYSTM1 |
| 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 |
| DIAPH1 | XPO6, RHOA, SRGAP2, TCERG1, DCAF7, MYO1E, HSPA4L, FN1, VCAM1, GRB2, PRPF40A, CENPA, WBP4, APBB1, GAS7, NEDD4, ARCN1, COPB1, COPZ1, KIF5B, KLC1, KLC4, PTPN23, SMEK2, WWOX, IQGAP1, RHOD, PSMC3, CCNL2, UBA6, UPF1, MTOR, TLN2, TTC4, UBL7, NTRK1, MED23, LRP1, PLXNB1, PABPN1, SLC16A3, CEP192, SOWAHC, ZCCHC6, RAB34, SKI, SNW1, CDC5L, RHOC, PFN2, TRIM25, BRCA1, TES | CYSTM1 | UQCR10, RAB11A, IER3IP1, NDUFB11, UQCRQ, TMX1, GNAI2, SLC16A1, GLP1R, MFSD4, SLC39A5 |
| - 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 DIAPH1_CYSTM1 |
| 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 DIAPH1_CYSTM1 |
| Diseases associated with fusion partners. (DisGeNet 4.0) |
| Partner | Gene | Disease ID | Disease name | # pubmeds | Source |
| Tgene | CYSTM1 | C0023893 | Liver Cirrhosis, Experimental | 1 | CTD_human |
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