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Fusion gene ID: 10397 |
FusionGeneSummary for DOCK3_TMIGD2 |
 Fusion gene summary |
| Fusion gene information | Fusion gene name: DOCK3_TMIGD2 | Fusion gene ID: 10397 | Hgene | Tgene | Gene symbol | DOCK3 | TMIGD2 | Gene ID | 1795 | 126259 |
| Gene name | dedicator of cytokinesis 3 | transmembrane and immunoglobulin domain containing 2 | |
| Synonyms | MOCA|PBP | CD28H|IGPR-1|IGPR1 | |
| Cytomap | 3p21.2 | 19p13.3 | |
| Type of gene | protein-coding | protein-coding | |
| Description | dedicator of cytokinesis protein 3modifier of cell adhesionpresenilin-binding protein | transmembrane and immunoglobulin domain-containing protein 2CD28 homologCD28 homologueimmunoglobulin and proline-rich receptor 1immunoglobulin-containing and proline-rich receptor 1transmembrane and immunoglobulin domain-containing protein 2 variant | |
| Modification date | 20180522 | 20180523 | |
| UniProtAcc | Q8IZD9 | Q96BF3 | |
| Ensembl transtripts involved in fusion gene | ENST00000266037, | ENST00000595645, ENST00000301272, ENST00000600349, ENST00000600114, | |
| Fusion gene scores | * DoF score | 7 X 5 X 7=245 | 1 X 1 X 1=1 |
| # samples | 7 | 1 | |
| ** MAII score | log2(7/245*10)=-1.8073549220576 possibly effective Gene in Pan-Cancer Fusion Genes (peGinPCFGs). DoF>8 and MAII<0 | log2(1/1*10)=3.32192809488736 | |
| Context | PubMed: DOCK3 [Title/Abstract] AND TMIGD2 [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 | TMIGD2 | GO:0001819 | positive regulation of cytokine production | 23784006 |
| Tgene | TMIGD2 | GO:0031295 | T cell costimulation | 23784006 |
| Tgene | TMIGD2 | GO:0042104 | positive regulation of activated T cell proliferation | 23784006 |
| 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 | THYM | TCGA-ZB-A96L-01A | DOCK3 | chr3 | 50971508 | + | TMIGD2 | chr19 | 4294813 | - |
| * 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 | ENST00000266037 | ENST00000595645 | DOCK3 | chr3 | 50971508 | + | TMIGD2 | chr19 | 4294813 | - |
| Frame-shift | ENST00000266037 | ENST00000301272 | DOCK3 | chr3 | 50971508 | + | TMIGD2 | chr19 | 4294813 | - |
| 5CDS-intron | ENST00000266037 | ENST00000600349 | DOCK3 | chr3 | 50971508 | + | TMIGD2 | chr19 | 4294813 | - |
| 5CDS-intron | ENST00000266037 | ENST00000600114 | DOCK3 | chr3 | 50971508 | + | TMIGD2 | chr19 | 4294813 | - |
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FusionProtFeatures for DOCK3_TMIGD2 |
| Main function of each fusion partner protein. (from UniProt) |
| Hgene | Tgene |
| DOCK3 | TMIGD2 |
| Potential guanine nucleotide exchange factor (GEF). GEFproteins activate some small GTPases by exchanging bound GDP forfree GTP. Its interaction with presenilin proteins as well as itsability to stimulate Tau/MAPT phosphorylation suggest that it maybe involved in Alzheimer disease. Ectopic expression in nervecells decreases the secretion of amyloid-beta APBA1 protein andlowers the rate of cell-substratum adhesion, suggesting that itmay affect the function of some small GTPase involved in theregulation of actin cytoskeleton or cell adhesion receptors (Bysimilarity). {ECO:0000250}. | Plays a role in cell-cell interaction, cell migration,and angiogenesis. Through interaction with HHLA2, costimulates T-cells in the context of TCR-mediated activation. Enhances T-cellproliferation and cytokine production via an AKT-dependentsignaling cascade. {ECO:0000269|PubMed:22419821,ECO:0000269|PubMed:23784006}. |
| 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 DOCK3_TMIGD2 |
| 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 DOCK3_TMIGD2 |
| 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 |
| DOCK3 | CALM1, KHDRBS1, ELMO1, SRPK2, ELMO3 | TMIGD2 | BAG3 |
| - 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 DOCK3_TMIGD2 |
| 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 DOCK3_TMIGD2 |
| Diseases associated with fusion partners. (DisGeNet 4.0) |
| Partner | Gene | Disease ID | Disease name | # pubmeds | Source |
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