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Fusion gene ID: 10754 |
FusionGeneSummary for DYNC1H1_EVL |
 Fusion gene summary |
| Fusion gene information | Fusion gene name: DYNC1H1_EVL | Fusion gene ID: 10754 | Hgene | Tgene | Gene symbol | DYNC1H1 | EVL | Gene ID | 1778 | 51466 |
| Gene name | dynein cytoplasmic 1 heavy chain 1 | Enah/Vasp-like | |
| Synonyms | CMT2O|DHC1|DHC1a|DNCH1|DNCL|DNECL|DYHC|Dnchc1|HL-3|SMALED1|p22 | RNB6 | |
| Cytomap | 14q32.31 | 14q32.2 | |
| Type of gene | protein-coding | protein-coding | |
| Description | cytoplasmic dynein 1 heavy chain 1dynein heavy chain, cytosolicdynein, cytoplasmic, heavy polypeptide 1 | ena/VASP-like proteinena/vasodilator-stimulated phosphoprotein-like | |
| Modification date | 20180523 | 20180519 | |
| UniProtAcc | Q14204 | Q9UI08 | |
| Ensembl transtripts involved in fusion gene | ENST00000360184, ENST00000556791, | ENST00000402714, ENST00000544450, ENST00000392920, ENST00000555048, | |
| Fusion gene scores | * DoF score | 17 X 15 X 7=1785 | 7 X 5 X 5=175 |
| # samples | 20 | 7 | |
| ** MAII score | log2(20/1785*10)=-3.15785216914174 possibly effective Gene in Pan-Cancer Fusion Genes (peGinPCFGs). DoF>8 and MAII<0 | log2(7/175*10)=-1.32192809488736 possibly effective Gene in Pan-Cancer Fusion Genes (peGinPCFGs). DoF>8 and MAII<0 | |
| Context | PubMed: DYNC1H1 [Title/Abstract] AND EVL [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 | PRAD | TCGA-YJ-A8SW-01A | DYNC1H1 | chr14 | 102478807 | + | EVL | chr14 | 100551024 | + |
| * 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 | ENST00000360184 | ENST00000402714 | DYNC1H1 | chr14 | 102478807 | + | EVL | chr14 | 100551024 | + |
| Frame-shift | ENST00000360184 | ENST00000544450 | DYNC1H1 | chr14 | 102478807 | + | EVL | chr14 | 100551024 | + |
| Frame-shift | ENST00000360184 | ENST00000392920 | DYNC1H1 | chr14 | 102478807 | + | EVL | chr14 | 100551024 | + |
| 5CDS-3UTR | ENST00000360184 | ENST00000555048 | DYNC1H1 | chr14 | 102478807 | + | EVL | chr14 | 100551024 | + |
| intron-3CDS | ENST00000556791 | ENST00000402714 | DYNC1H1 | chr14 | 102478807 | + | EVL | chr14 | 100551024 | + |
| intron-3CDS | ENST00000556791 | ENST00000544450 | DYNC1H1 | chr14 | 102478807 | + | EVL | chr14 | 100551024 | + |
| intron-3CDS | ENST00000556791 | ENST00000392920 | DYNC1H1 | chr14 | 102478807 | + | EVL | chr14 | 100551024 | + |
| intron-3UTR | ENST00000556791 | ENST00000555048 | DYNC1H1 | chr14 | 102478807 | + | EVL | chr14 | 100551024 | + |
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FusionProtFeatures for DYNC1H1_EVL |
| Main function of each fusion partner protein. (from UniProt) |
| Hgene | Tgene |
| DYNC1H1 | EVL |
| Cytoplasmic dynein 1 acts as a motor for theintracellular retrograde motility of vesicles and organelles alongmicrotubules. Dynein has ATPase activity; the force-producingpower stroke is thought to occur on release of ADP. Plays a rolein mitotic spindle assembly and metaphase plate congression(PubMed:27462074). {ECO:0000269|PubMed:27462074}. | Ena/VASP proteins are actin-associated proteins involvedin a range of processes dependent on cytoskeleton remodeling andcell polarity such as axon guidance and lamellipodial andfilopodial dynamics in migrating cells. EVL enhances actinnucleation and polymerization. |
| 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 DYNC1H1_EVL |
| 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 DYNC1H1_EVL |
| 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 |
| DYNC1H1 | ARF6, TSC22D1, SNRPB, C20orf24, TOR1A, NME2, DCTN1, NDEL1, PAFAH1B1, BICD2, EPB41, CDC5L, EGFR, RYK, MYC, SPG20, SIRT1, DISC1, TNIK, CSNK2B, ARRB2, SIRT7, CUL3, CDK2, COPS5, KATNA1, KATNB1, LRRK2, GRB2, SNCA, PSEN2, DYNLT1, DYNC1LI2, DYNC1LI1, MAX, SNRPA1, HTATSF1, SRSF9, U2AF2, SF3A1, FUS, DYNLRB1, NCOA5, YARS, STRN, STRN4, XRCC5, FLNC, RANBP9, NUP133, SAP30BP, TNKS1BP1, DYNLT3, LONP1, HNRNPL, TPM2, PLOD3, EPPK1, MCCC1, MCCC2, HEXIM1, ZC3H4, RPA2, LRRFIP1, BRCA1, IKBKAP, HSP90AA1, FN1, VCAM1, PEX14, SMAD2, FAM46A, METTL21A, METTL21C, ITGA4, YWHAQ, AKAP12, DDX1, DYNC1I2, FLNA, PRUNE2, SERBP1, EIF3K, RPS24, RPS5, YBX1, PRKCD, DYNC1I1, SPRTN, TRIM58, HDAC6, RUFY1, CUL7, OBSL1, CCDC8, SUZ12, RNF2, BMI1, USP7, FBXW11, UNK, DCTN2, NCBP1, PIN4, PRMT5, RUVBL2, NTRK1, OFD1, CNTRL, NINL, NIN, NPHP1, RPGRIP1L, SCLT1, POC5, DYNLL1, SYNCRIP, MAPRE1, PPP2R3C, HNRNPD, HSPA1A, MKLN1, CLIP1, TPD52, ACTR1A, RPRD2, GLTSCR1, DCTN4, DCTN5, NUMA1, FOXB1, SKI, CRY2, FOXL1, MCM2, ATOH1, ZNF746, MTNR1B, CYLD, COX15, DLST, DNM1L, HSD17B10, PDHA1, TES | EVL | DNMBP, SEMA6A, ABL1, SRC, LYN, APBB1, PFN2, RAD21, TERF1, POT1, HTT, SPTAN1, TES, BAG3, TCERG1, PRPF40A, XIRP1, ABI3, EVL, TRIM9, ZDHHC17, VASP, PVRL4, NAP1L5, ENAH, XPO1, U2AF2, TRMT61A, UBP1, DDX49, ENDOG, TACC3, EXD2, LETMD1, RPL23, TRAF7, ZYX, FBLIM1, LYRM5, WASF2 |
| - 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 DYNC1H1_EVL |
| 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 DYNC1H1_EVL |
| Diseases associated with fusion partners. (DisGeNet 4.0) |
| Partner | Gene | Disease ID | Disease name | # pubmeds | Source |
| Hgene | DYNC1H1 | C3280220 | CHARCOT-MARIE-TOOTH DISEASE, AXONAL, TYPE 2O | 4 | ORPHANET;UNIPROT |
| Hgene | DYNC1H1 | C3281202 | MENTAL RETARDATION, AUTOSOMAL DOMINANT 13 | 4 | UNIPROT |
| Hgene | DYNC1H1 | C1834690 | Spinal Muscular Atrophy, Childhood, Proximal, Autosomal Dominant | 2 | ORPHANET;UNIPROT |
| Hgene | DYNC1H1 | C0025958 | Microcephaly | 1 | CTD_human |
| Hgene | DYNC1H1 | C1955869 | Malformations of Cortical Development | 1 | CTD_human |
| Hgene | DYNC1H1 | C3714756 | Intellectual Disability | 1 | CTD_human;HPO |
| Tgene | EVL | C0009404 | Colorectal Neoplasms | 2 | CTD_human |
| Tgene | EVL | C1458155 | Mammary Neoplasms | 1 | CTD_human |
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