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Fusion gene ID: 11527 |
FusionGeneSummary for EMC7_DYNLL1 |
 Fusion gene summary |
| Fusion gene information | Fusion gene name: EMC7_DYNLL1 | Fusion gene ID: 11527 | Hgene | Tgene | Gene symbol | EMC7 | DYNLL1 | Gene ID | 56851 | 8655 |
| Gene name | ER membrane protein complex subunit 7 | dynein light chain LC8-type 1 | |
| Synonyms | C11orf3|C15orf24|HT022|ORF1-FL1 | DLC1|DLC8|DNCL1|DNCLC1|LC8|LC8a|PIN|hdlc1 | |
| Cytomap | 15q14 | 12q24.31 | |
| Type of gene | protein-coding | protein-coding | |
| Description | ER membrane protein complex subunit 7UPF0480 protein C15orf24chromosome 15 hypothetical ATG/GTP binding protein | dynein light chain 1, cytoplasmic8 kDa dynein light chaincytoplasmic dynein light polypeptidedynein, cytoplasmic, light polypeptide 1protein inhibitor of neuronal nitric oxide synthase | |
| Modification date | 20180523 | 20180523 | |
| UniProtAcc | Q9NPA0 | P63167 | |
| Ensembl transtripts involved in fusion gene | ENST00000256545, ENST00000532113, | ENST00000392509, ENST00000548342, ENST00000242577, ENST00000548214, ENST00000392508, ENST00000550178, ENST00000550845, ENST00000549989, ENST00000552870, ENST00000552316, | |
| Fusion gene scores | * DoF score | 3 X 3 X 2=18 | 1 X 1 X 1=1 |
| # samples | 3 | 1 | |
| ** MAII score | log2(3/18*10)=0.736965594166206 effective Gene in Pan-Cancer Fusion Genes (eGinPCFGs). DoF>8 and MAII>0 | log2(1/1*10)=3.32192809488736 | |
| Context | PubMed: EMC7 [Title/Abstract] AND DYNLL1 [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 |
| Tgene | DYNLL1 | GO:0042326 | negative regulation of phosphorylation | 18579519 |
| 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 | BE831593 | EMC7 | chr15 | 34388135 | - | DYNLL1 | chr12 | 120936008 | - |
| * 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-3CDS | ENST00000256545 | ENST00000392509 | EMC7 | chr15 | 34388135 | - | DYNLL1 | chr12 | 120936008 | - |
| intron-3CDS | ENST00000256545 | ENST00000548342 | EMC7 | chr15 | 34388135 | - | DYNLL1 | chr12 | 120936008 | - |
| intron-3CDS | ENST00000256545 | ENST00000242577 | EMC7 | chr15 | 34388135 | - | DYNLL1 | chr12 | 120936008 | - |
| intron-intron | ENST00000256545 | ENST00000548214 | EMC7 | chr15 | 34388135 | - | DYNLL1 | chr12 | 120936008 | - |
| intron-intron | ENST00000256545 | ENST00000392508 | EMC7 | chr15 | 34388135 | - | DYNLL1 | chr12 | 120936008 | - |
| intron-intron | ENST00000256545 | ENST00000550178 | EMC7 | chr15 | 34388135 | - | DYNLL1 | chr12 | 120936008 | - |
| intron-intron | ENST00000256545 | ENST00000550845 | EMC7 | chr15 | 34388135 | - | DYNLL1 | chr12 | 120936008 | - |
| intron-intron | ENST00000256545 | ENST00000549989 | EMC7 | chr15 | 34388135 | - | DYNLL1 | chr12 | 120936008 | - |
| intron-3UTR | ENST00000256545 | ENST00000552870 | EMC7 | chr15 | 34388135 | - | DYNLL1 | chr12 | 120936008 | - |
| intron-3UTR | ENST00000256545 | ENST00000552316 | EMC7 | chr15 | 34388135 | - | DYNLL1 | chr12 | 120936008 | - |
| intron-3CDS | ENST00000532113 | ENST00000392509 | EMC7 | chr15 | 34388135 | - | DYNLL1 | chr12 | 120936008 | - |
| intron-3CDS | ENST00000532113 | ENST00000548342 | EMC7 | chr15 | 34388135 | - | DYNLL1 | chr12 | 120936008 | - |
| intron-3CDS | ENST00000532113 | ENST00000242577 | EMC7 | chr15 | 34388135 | - | DYNLL1 | chr12 | 120936008 | - |
| intron-intron | ENST00000532113 | ENST00000548214 | EMC7 | chr15 | 34388135 | - | DYNLL1 | chr12 | 120936008 | - |
| intron-intron | ENST00000532113 | ENST00000392508 | EMC7 | chr15 | 34388135 | - | DYNLL1 | chr12 | 120936008 | - |
| intron-intron | ENST00000532113 | ENST00000550178 | EMC7 | chr15 | 34388135 | - | DYNLL1 | chr12 | 120936008 | - |
| intron-intron | ENST00000532113 | ENST00000550845 | EMC7 | chr15 | 34388135 | - | DYNLL1 | chr12 | 120936008 | - |
| intron-intron | ENST00000532113 | ENST00000549989 | EMC7 | chr15 | 34388135 | - | DYNLL1 | chr12 | 120936008 | - |
| intron-3UTR | ENST00000532113 | ENST00000552870 | EMC7 | chr15 | 34388135 | - | DYNLL1 | chr12 | 120936008 | - |
| intron-3UTR | ENST00000532113 | ENST00000552316 | EMC7 | chr15 | 34388135 | - | DYNLL1 | chr12 | 120936008 | - |
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FusionProtFeatures for EMC7_DYNLL1 |
| Main function of each fusion partner protein. (from UniProt) |
| Hgene | Tgene |
| EMC7 | DYNLL1 |
| Acts as one of several non-catalytic accessorycomponents of the cytoplasmic dynein 1 complex that are thought tobe involved in linking dynein to cargos and to adapter proteinsthat regulate dynein function. Cytoplasmic dynein 1 acts as amotor for the intracellular retrograde motility of vesicles andorganelles along microtubules. May play a role in changing ormaintaining the spatial distribution of cytoskeletal structures. Binds and inhibits the catalytic activity of neuronalnitric oxide synthase. Promotes transactivation functions of ESR1 and plays arole in the nuclear localization of ESR1. Regulates apoptotic activities of BCL2L11 bysequestering it to microtubules. Upon apoptotic stimuli theBCL2L11-DYNLL1 complex dissociates from cytoplasmic dynein andtranslocates to mitochondria and sequesters BCL2 thus neutralizingits antiapoptotic activity. |
| 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 EMC7_DYNLL1 |
| 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 EMC7_DYNLL1 |
| 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 EMC7_DYNLL1 |
| 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 EMC7_DYNLL1 |
| Diseases associated with fusion partners. (DisGeNet 4.0) |
| Partner | Gene | Disease ID | Disease name | # pubmeds | Source |
| Tgene | DYNLL1 | C0007786 | Brain Ischemia | 1 | CTD_human |
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