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Fusion gene ID: 10775 |
FusionGeneSummary for DYNC1LI2_NAE1 |
 Fusion gene summary |
| Fusion gene information | Fusion gene name: DYNC1LI2_NAE1 | Fusion gene ID: 10775 | Hgene | Tgene | Gene symbol | DYNC1LI2 | NAE1 | Gene ID | 1783 | 8883 |
| Gene name | dynein cytoplasmic 1 light intermediate chain 2 | NEDD8 activating enzyme E1 subunit 1 | |
| Synonyms | DNCLI2|LIC2 | A-116A10.1|APPBP1|HPP1|ula-1 | |
| Cytomap | 16q22.1 | 16q22.1 | |
| Type of gene | protein-coding | protein-coding | |
| Description | cytoplasmic dynein 1 light intermediate chain 2LIC-2LIC53/55dynein light intermediate chain 2, cytosolicdynein, cytoplasmic, light intermediate polypeptide 2 | NEDD8-activating enzyme E1 regulatory subunitAPP-BP1NEDD8-activating enzyme E1 subunitamyloid beta precursor protein binding protein 1, 59kDaamyloid beta precursor protein-binding protein 1, 59 kDaamyloid beta precursor protein-binding protein 1, 59k | |
| Modification date | 20180523 | 20180523 | |
| UniProtAcc | O43237 | Q13564 | |
| Ensembl transtripts involved in fusion gene | ENST00000258198, ENST00000379482, ENST00000443351, ENST00000570201, ENST00000440564, | ENST00000359087, ENST00000290810, ENST00000379463, ENST00000394074, ENST00000564040, | |
| Fusion gene scores | * DoF score | 4 X 4 X 2=32 | 3 X 4 X 2=24 |
| # samples | 4 | 4 | |
| ** MAII score | log2(4/32*10)=0.321928094887362 effective Gene in Pan-Cancer Fusion Genes (eGinPCFGs). DoF>8 and MAII>0 | log2(4/24*10)=0.736965594166206 effective Gene in Pan-Cancer Fusion Genes (eGinPCFGs). DoF>8 and MAII>0 | |
| Context | PubMed: DYNC1LI2 [Title/Abstract] AND NAE1 [Title/Abstract] AND fusion [Title/Abstract] | ||
| Functional or gene categories assigned by FusionGDB annotation | Oncogene involved fusion gene, in-frame and retained their domain. | ||
| * 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 | NAE1 | GO:0033314 | mitotic DNA replication checkpoint | 10722740 |
| Tgene | NAE1 | GO:0042981 | regulation of apoptotic process | 14557245 |
| Tgene | NAE1 | GO:0043523 | regulation of neuron apoptotic process | 10722740 |
| Tgene | NAE1 | GO:0045116 | protein neddylation | 10207026|12740388 |
| Tgene | NAE1 | GO:0051402 | neuron apoptotic process | 14557245 |
| 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 | ESCA | TCGA-VR-A8Q7-01A | DYNC1LI2 | chr16 | 66783100 | - | NAE1 | chr16 | 66839929 | - |
| * 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 |
| In-frame | ENST00000258198 | ENST00000359087 | DYNC1LI2 | chr16 | 66783100 | - | NAE1 | chr16 | 66839929 | - |
| In-frame | ENST00000258198 | ENST00000290810 | DYNC1LI2 | chr16 | 66783100 | - | NAE1 | chr16 | 66839929 | - |
| In-frame | ENST00000258198 | ENST00000379463 | DYNC1LI2 | chr16 | 66783100 | - | NAE1 | chr16 | 66839929 | - |
| In-frame | ENST00000258198 | ENST00000394074 | DYNC1LI2 | chr16 | 66783100 | - | NAE1 | chr16 | 66839929 | - |
| 5CDS-intron | ENST00000258198 | ENST00000564040 | DYNC1LI2 | chr16 | 66783100 | - | NAE1 | chr16 | 66839929 | - |
| In-frame | ENST00000379482 | ENST00000359087 | DYNC1LI2 | chr16 | 66783100 | - | NAE1 | chr16 | 66839929 | - |
| In-frame | ENST00000379482 | ENST00000290810 | DYNC1LI2 | chr16 | 66783100 | - | NAE1 | chr16 | 66839929 | - |
| In-frame | ENST00000379482 | ENST00000379463 | DYNC1LI2 | chr16 | 66783100 | - | NAE1 | chr16 | 66839929 | - |
| In-frame | ENST00000379482 | ENST00000394074 | DYNC1LI2 | chr16 | 66783100 | - | NAE1 | chr16 | 66839929 | - |
| 5CDS-intron | ENST00000379482 | ENST00000564040 | DYNC1LI2 | chr16 | 66783100 | - | NAE1 | chr16 | 66839929 | - |
| In-frame | ENST00000443351 | ENST00000359087 | DYNC1LI2 | chr16 | 66783100 | - | NAE1 | chr16 | 66839929 | - |
| In-frame | ENST00000443351 | ENST00000290810 | DYNC1LI2 | chr16 | 66783100 | - | NAE1 | chr16 | 66839929 | - |
| In-frame | ENST00000443351 | ENST00000379463 | DYNC1LI2 | chr16 | 66783100 | - | NAE1 | chr16 | 66839929 | - |
| In-frame | ENST00000443351 | ENST00000394074 | DYNC1LI2 | chr16 | 66783100 | - | NAE1 | chr16 | 66839929 | - |
| 5CDS-intron | ENST00000443351 | ENST00000564040 | DYNC1LI2 | chr16 | 66783100 | - | NAE1 | chr16 | 66839929 | - |
| intron-3CDS | ENST00000570201 | ENST00000359087 | DYNC1LI2 | chr16 | 66783100 | - | NAE1 | chr16 | 66839929 | - |
| intron-3CDS | ENST00000570201 | ENST00000290810 | DYNC1LI2 | chr16 | 66783100 | - | NAE1 | chr16 | 66839929 | - |
| intron-3CDS | ENST00000570201 | ENST00000379463 | DYNC1LI2 | chr16 | 66783100 | - | NAE1 | chr16 | 66839929 | - |
| intron-3CDS | ENST00000570201 | ENST00000394074 | DYNC1LI2 | chr16 | 66783100 | - | NAE1 | chr16 | 66839929 | - |
| intron-intron | ENST00000570201 | ENST00000564040 | DYNC1LI2 | chr16 | 66783100 | - | NAE1 | chr16 | 66839929 | - |
| intron-3CDS | ENST00000440564 | ENST00000359087 | DYNC1LI2 | chr16 | 66783100 | - | NAE1 | chr16 | 66839929 | - |
| intron-3CDS | ENST00000440564 | ENST00000290810 | DYNC1LI2 | chr16 | 66783100 | - | NAE1 | chr16 | 66839929 | - |
| intron-3CDS | ENST00000440564 | ENST00000379463 | DYNC1LI2 | chr16 | 66783100 | - | NAE1 | chr16 | 66839929 | - |
| intron-3CDS | ENST00000440564 | ENST00000394074 | DYNC1LI2 | chr16 | 66783100 | - | NAE1 | chr16 | 66839929 | - |
| intron-intron | ENST00000440564 | ENST00000564040 | DYNC1LI2 | chr16 | 66783100 | - | NAE1 | chr16 | 66839929 | - |
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FusionProtFeatures for DYNC1LI2_NAE1 |
| Main function of each fusion partner protein. (from UniProt) |
| Hgene | Tgene |
| DYNC1LI2 | NAE1 |
| 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 binding dyneinto membranous organelles or chromosomes. | Regulatory subunit of the dimeric UBA3-NAE1 E1 enzyme.E1 activates NEDD8 by first adenylating its C-terminal glycineresidue with ATP, thereafter linking this residue to the sidechain of the catalytic cysteine, yielding a NEDD8-UBA3 thioesterand free AMP. E1 finally transfers NEDD8 to the catalytic cysteineof UBE2M. Necessary for cell cycle progression through the S-Mcheckpoint. Overexpression of NAE1 causes apoptosis throughderegulation of NEDD8 conjugation. {ECO:0000269|PubMed:10207026,ECO:0000269|PubMed:10722740, ECO:0000269|PubMed:12740388}. |
| 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 |
| Hgene | DYNC1LI2 | chr16:66783100 | chr16:66839929 | ENST00000258198 | - | 3 | 13 | 61_68 | 99 | 493 | Nucleotide binding | ATP |
| - 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 DYNC1LI2_NAE1 |
| 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 DYNC1LI2_NAE1 |
| 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 |
| DYNC1LI2 | DMTN, ELAVL1, CUL3, APP, DYNC1H1, DYNC1LI1, DYNLT1, DYNLT3, DYNC1I2, DYNLRB1, FLNA, PRUNE2, DYNLL1, EIF3K, GNB2L1, HNRNPA2B1, RPSA, NMT1, RPS23, RPS26, RPS5, YBX1, TRIM58, C2CD2, CLUH, NTRK1, NINL, NIN, SNW1, CDC5L, DYNC1I1, PCBP4 | NAE1 | UBE2M, UBQLN4, APP, UBA3, TRIP12, UIMC1, NEDD8, TP53BP2, ALG8, SREBF2, APEX1, CAPN2, DCPS, MCTS1, MSN, ATIC, CAMK1D, NUCB2, PAFAH1B2, PDIA4, PROSC, RAP1GDS1, TATDN1, TUFM, NSFL1C, PAPSS1, PCYT2, PPP1R2, TXNRD1, XPO1, PINK1, UBE2F, ZBTB44, EXOC6, NUDCD3, PLOD1, UBA5, XRCC6, NTRK1, KRAS |
| - 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 |
| Tgene | NAE1 | chr16:66783100 | chr16:66839929 | ENST00000290810 | - | 16 | 20 | 331_344 | 443 | 535 | UBA3 |
| Tgene | NAE1 | chr16:66783100 | chr16:66839929 | ENST00000379463 | - | 17 | 21 | 331_344 | 437 | 529 | UBA3 |
| - 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 DYNC1LI2_NAE1 |
| 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 DYNC1LI2_NAE1 |
| Diseases associated with fusion partners. (DisGeNet 4.0) |
| Partner | Gene | Disease ID | Disease name | # pubmeds | Source |
| Hgene | DYNC1LI2 | C0043094 | Weight Gain | 1 | CTD_human |
Copyright 2018-Present -The University of Texas Health Science Center at Houston (UTHealth)
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