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Fusion gene ID: 14706 |
FusionGeneSummary for GLI1_DCTN2 |
 Fusion gene summary |
| Fusion gene information | Fusion gene name: GLI1_DCTN2 | Fusion gene ID: 14706 | Hgene | Tgene | Gene symbol | GLI1 | DCTN2 | Gene ID | 2735 | 10540 |
| Gene name | GLI family zinc finger 1 | dynactin subunit 2 | |
| Synonyms | GLI | DCTN50|DYNAMITIN|HEL-S-77|RBP50 | |
| Cytomap | 12q13.3 | 12q13.3 | |
| Type of gene | protein-coding | protein-coding | |
| Description | zinc finger protein GLI1GLI-Kruppel family member GLI1glioma-associated oncogene 1glioma-associated oncogene homolog 1 (zinc finger protein)oncogene GLI | dynactin subunit 250 kDa dynein-associated polypeptidedynactin 2 (p50)dynactin complex 50 kDa subunitepididymis secretory protein Li 77p50 dynamitin | |
| Modification date | 20180527 | 20180523 | |
| UniProtAcc | P08151 | Q13561 | |
| Ensembl transtripts involved in fusion gene | ENST00000543426, ENST00000228682, ENST00000546141, | ENST00000548249, ENST00000537439, ENST00000434715, ENST00000543672, ENST00000551400, | |
| Fusion gene scores | * DoF score | 1 X 1 X 1=1 | 6 X 2 X 5=60 |
| # samples | 1 | 6 | |
| ** MAII score | log2(1/1*10)=3.32192809488736 | log2(6/60*10)=0 | |
| Context | PubMed: GLI1 [Title/Abstract] AND DCTN2 [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 | GLI1 | GO:0001649 | osteoblast differentiation | 12165851 |
| Hgene | GLI1 | GO:0007224 | smoothened signaling pathway | 19878745 |
| Hgene | GLI1 | GO:0009913 | epidermal cell differentiation | 12165851 |
| Hgene | GLI1 | GO:0045740 | positive regulation of DNA replication | 12165851 |
| Hgene | GLI1 | GO:0045880 | positive regulation of smoothened signaling pathway | 17035233 |
| Hgene | GLI1 | GO:0045893 | positive regulation of transcription, DNA-templated | 11238441|12165851|17035233 |
| Hgene | GLI1 | GO:0045944 | positive regulation of transcription by RNA polymerase II | 9118802|10693759|12165851 |
| Hgene | GLI1 | GO:0060045 | positive regulation of cardiac muscle cell proliferation | 28583401 |
| Hgene | GLI1 | GO:1902808 | positive regulation of cell cycle G1/S phase transition | 28583401 |
| 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 | GBM | TCGA-06-5859-01A | GLI1 | chr12 | 57853984 | + | DCTN2 | chr12 | 57929628 | - |
| * 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 |
| 5UTR-3CDS | ENST00000543426 | ENST00000548249 | GLI1 | chr12 | 57853984 | + | DCTN2 | chr12 | 57929628 | - |
| 5UTR-3CDS | ENST00000543426 | ENST00000537439 | GLI1 | chr12 | 57853984 | + | DCTN2 | chr12 | 57929628 | - |
| 5UTR-3CDS | ENST00000543426 | ENST00000434715 | GLI1 | chr12 | 57853984 | + | DCTN2 | chr12 | 57929628 | - |
| 5UTR-3CDS | ENST00000543426 | ENST00000543672 | GLI1 | chr12 | 57853984 | + | DCTN2 | chr12 | 57929628 | - |
| 5UTR-5UTR | ENST00000543426 | ENST00000551400 | GLI1 | chr12 | 57853984 | + | DCTN2 | chr12 | 57929628 | - |
| 5UTR-3CDS | ENST00000228682 | ENST00000548249 | GLI1 | chr12 | 57853984 | + | DCTN2 | chr12 | 57929628 | - |
| 5UTR-3CDS | ENST00000228682 | ENST00000537439 | GLI1 | chr12 | 57853984 | + | DCTN2 | chr12 | 57929628 | - |
| 5UTR-3CDS | ENST00000228682 | ENST00000434715 | GLI1 | chr12 | 57853984 | + | DCTN2 | chr12 | 57929628 | - |
| 5UTR-3CDS | ENST00000228682 | ENST00000543672 | GLI1 | chr12 | 57853984 | + | DCTN2 | chr12 | 57929628 | - |
| 5UTR-5UTR | ENST00000228682 | ENST00000551400 | GLI1 | chr12 | 57853984 | + | DCTN2 | chr12 | 57929628 | - |
| 5UTR-3CDS | ENST00000546141 | ENST00000548249 | GLI1 | chr12 | 57853984 | + | DCTN2 | chr12 | 57929628 | - |
| 5UTR-3CDS | ENST00000546141 | ENST00000537439 | GLI1 | chr12 | 57853984 | + | DCTN2 | chr12 | 57929628 | - |
| 5UTR-3CDS | ENST00000546141 | ENST00000434715 | GLI1 | chr12 | 57853984 | + | DCTN2 | chr12 | 57929628 | - |
| 5UTR-3CDS | ENST00000546141 | ENST00000543672 | GLI1 | chr12 | 57853984 | + | DCTN2 | chr12 | 57929628 | - |
| 5UTR-5UTR | ENST00000546141 | ENST00000551400 | GLI1 | chr12 | 57853984 | + | DCTN2 | chr12 | 57929628 | - |
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FusionProtFeatures for GLI1_DCTN2 |
| Main function of each fusion partner protein. (from UniProt) |
| Hgene | Tgene |
| GLI1 | DCTN2 |
| Acts as a transcriptional activator (PubMed:19706761,PubMed:10806483, PubMed:19878745, PubMed:24311597,PubMed:24217340). Binds to the DNA consensus sequence 5'-GACCACCCA-3' (PubMed:2105456, PubMed:8378770, PubMed:24217340).May regulate the transcription of specific genes during normaldevelopment (PubMed:19706761). May play a role in craniofacialdevelopment and digital development, as well as development of thecentral nervous system and gastrointestinal tract. Mediates SHHsignaling (PubMed:19706761). Plays a role in cell proliferationand differentiation via its role in SHH signaling (Probable).{ECO:0000269|PubMed:10806483, ECO:0000269|PubMed:11238441,ECO:0000269|PubMed:19706761, ECO:0000269|PubMed:19878745,ECO:0000269|PubMed:2105456, ECO:0000269|PubMed:24217340,ECO:0000269|PubMed:24311597, ECO:0000269|PubMed:8378770,ECO:0000305}. Isoform 2: Acts as a transcriptional activator, butactivates a different set of genes than isoform 1. Activatesexpression of CD24, unlike isoform 1. Mediates SHH signaling.Promotes cancer cell migration. {ECO:0000269|PubMed:19706761}. | Modulates cytoplasmic dynein binding to an organelle,and plays a role in prometaphase chromosome alignment and spindleorganization during mitosis. Involved in anchoring microtubules tocentrosomes. May play a role in synapse formation during braindevelopment. |
| 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 GLI1_DCTN2 |
| 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 GLI1_DCTN2 |
| 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 |
| GLI1 | SUFU, ZIC1, ZIC2, STK36, SAP18, HDAC1, HDAC2, XBP1, RAI1, ITCH, NUMB, MYC, CDK4, FEM1B, VHL, PRKAA2, GCC1, TRIM42, SMAD4, SMAD2, KAT2B, BTRC, TP53, ALLC, ALYREF, KIAA1211, SMARCA4, SMARCC2, ZMYM3, KIF7, TRIM27, FARSB, RAD50, TTC26, IFT74, IFT81, MRE11A, RPL21, DES, FXR1, P4HA1, SNX33, USP7, PHB2, EEF1D, NPM1, EIF3I, IKBKB, CAPZB, CAPZA2, ARPC2, CDK1, BUB3, GNB2L1, PGAM5, GNAI1, GNA13, PPP1CB, GNB1, CHUK, FBXL17, USP21, PRKACA, PRKAA1 | DCTN2 | GADD45A, GOLM1, GNAO1, PAFAH1B1, BICD2, MARCKSL1, CALM1, HGS, EGFR, GRB2, UBC, DISC1, MAPK6, CUL3, EMILIN1, NDEL1, KCNA5, ACTR1A, DCTN3, DCTN1, ACTR1B, MCM4, MCM7, PSMC4, POLR2A, PSMD1, RANBP9, STRN4, DYNLRB1, POLR2D, PSMC2, SNRPA1, HSP90AB1, PSMD4, MCM6, TPM4, SMURF1, KPNA2, ACTR10, DCTN4, FLNB, LEO1, LMNB1, NUP43, RABEP1, SEH1L, DYNC1I1, KIFC3, DCTN2, BLOC1S6, HAUS1, CCDC172, NXF1, CSPP1, CAPZA2, EXD2, CCDC138, DCTN5, DCTN6, FBXO28, KLHL2, C17orf59, TRMT1L, TRIM11, ARMC1, CAPZB, CCAR1, PSMA2, PSMA5, PSMB6, SHMT2, DYNC1H1, MCFD2, PSMA1, PSMC1, SMARCC1, SMARCC2, NTRK1, MED4, CEP44, NIN, SCLT1, DBN1, MAPRE1, MYO19, MYO18A, SNW1, CDC5L, MYO6, DUSP13, DUSP19, DUSP28, DEFB127, MIS18A, PDGFD, RPS19BP1, C1orf106, RIC8A, UQCRH, CAPZA1, VTI1B, NINL, CAMK2A, AHI1, CYLD, DNM1L, CCND2 |
| - 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 GLI1_DCTN2 |
| 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 GLI1_DCTN2 |
| Diseases associated with fusion partners. (DisGeNet 4.0) |
| Partner | Gene | Disease ID | Disease name | # pubmeds | Source |
| Hgene | GLI1 | C0005695 | Bladder Neoplasm | 1 | CTD_human |
| Hgene | GLI1 | C0023487 | Acute Promyelocytic Leukemia | 1 | CTD_human |
| Hgene | GLI1 | C0031117 | Peripheral Neuropathy | 1 | CTD_human |
| Hgene | GLI1 | C0079744 | Diffuse Large B-Cell Lymphoma | 1 | CTD_human |
| Hgene | GLI1 | C2239176 | Liver carcinoma | 1 | CTD_human |
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