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Fusion gene ID: 1032 |
FusionGeneSummary for AFG3L2_TIAM1 |
 Fusion gene summary |
| Fusion gene information | Fusion gene name: AFG3L2_TIAM1 | Fusion gene ID: 1032 | Hgene | Tgene | Gene symbol | AFG3L2 | TIAM1 | Gene ID | 10939 | 7074 |
| Gene name | AFG3 like matrix AAA peptidase subunit 2 | T cell lymphoma invasion and metastasis 1 | |
| Synonyms | SCA28|SPAX5 | TIAM-1 | |
| Cytomap | 18p11.21 | 21q22.11 | |
| Type of gene | protein-coding | protein-coding | |
| Description | AFG3-like protein 2AFG3 ATPase family gene 3-like 2AFG3 ATPase family member 3-like 2AFG3 like AAA ATPase 2ATPase family gene 3, yeastparaplegin-like protein | T-lymphoma invasion and metastasis-inducing protein 1human T-lymphoma invasion and metastasis inducing TIAM1 protein | |
| Modification date | 20180523 | 20180522 | |
| UniProtAcc | Q9Y4W6 | Q13009 | |
| Ensembl transtripts involved in fusion gene | ENST00000269143, | ENST00000286827, ENST00000541036, ENST00000469412, | |
| Fusion gene scores | * DoF score | 2 X 2 X 2=8 | 3 X 3 X 3=27 |
| # samples | 2 | 3 | |
| ** MAII score | log2(2/8*10)=1.32192809488736 | log2(3/27*10)=0.15200309344505 effective Gene in Pan-Cancer Fusion Genes (eGinPCFGs). DoF>8 and MAII>0 | |
| Context | PubMed: AFG3L2 [Title/Abstract] AND TIAM1 [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 | TIAM1 | GO:0008284 | positive regulation of cell proliferation | 25032858 |
| Tgene | TIAM1 | GO:0010717 | regulation of epithelial to mesenchymal transition | 20826792 |
| Tgene | TIAM1 | GO:0030335 | positive regulation of cell migration | 25032858 |
| Tgene | TIAM1 | GO:0032092 | positive regulation of protein binding | 23109420 |
| Tgene | TIAM1 | GO:0090630 | activation of GTPase activity | 23109420 |
| 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 | LUAD | TCGA-O1-A52J-01A | AFG3L2 | chr18 | 12337340 | - | TIAM1 | chr21 | 32503266 | - |
| * 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 | ENST00000269143 | ENST00000286827 | AFG3L2 | chr18 | 12337340 | - | TIAM1 | chr21 | 32503266 | - |
| Frame-shift | ENST00000269143 | ENST00000541036 | AFG3L2 | chr18 | 12337340 | - | TIAM1 | chr21 | 32503266 | - |
| 5CDS-intron | ENST00000269143 | ENST00000469412 | AFG3L2 | chr18 | 12337340 | - | TIAM1 | chr21 | 32503266 | - |
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FusionProtFeatures for AFG3L2_TIAM1 |
| Main function of each fusion partner protein. (from UniProt) |
| Hgene | Tgene |
| AFG3L2 | TIAM1 |
| ATP-dependent protease which is essential for axonal andneuron development. In neurons, mediates degradation of SMDT1/EMREbefore its assembly with the uniporter complex, limiting theavailability of SMDT1/EMRE for MCU assembly and promotingefficient assembly of gatekeeper subunits with MCU(PubMed:27642048). Required for the maturation of paraplegin(SPG7) after its cleavage by mitochondrial-processing peptidase(MPP), converting it into a proteolytically active mature form (Bysimilarity). {ECO:0000250|UniProtKB:Q8JZQ2,ECO:0000269|PubMed:27642048}. | Modulates the activity of RHO-like proteins and connectsextracellular signals to cytoskeletal activities. Acts as a GDP-dissociation stimulator protein that stimulates the GDP-GTPexchange activity of RHO-like GTPases and activates them.Activates RAC1, CDC42, and to a lesser extent RHOA. Required fornormal cell adhesion and cell migration.{ECO:0000269|PubMed:20361982}. |
| 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 AFG3L2_TIAM1 |
| 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 AFG3L2_TIAM1 |
| 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 |
| AFG3L2 | PHC2, USP50, BECN1, CLN3, ICT1, MAPK8IP2, RAC2, APP, BTK, HIPK4, FBXO6, CCDC8, SUZ12, RNF2, EGFR, AK2, ATP5F1, CYC1, HSD17B12, NDUFA9, NDUFS1, NDUFS8, SLC25A3, UQCRC2, ATP1A1, ATP5A1, PHB, PHB2, RPN1, TMCO1, UQCRQ, NTRK1, BTRC, MED20, NDUFA11, NDUFA13, TIMMDC1, ELL2, GBA2, TUBA1C, TGS1, NEDD1, RBM45, USF1, NF2, C2orf47, NDUFA4, COQ9, C15orf48, CISD3, OCIAD1, PTPMT1, CCDC58, COQ2, CHCHD2, PDP2, INTU, CYLD, TRIM25 | TIAM1 | PPP1R9B, MAPK8IP2, MAPK8IP1, RAC1, HRAS, MYC, CD44, PRKCA, PRKCB, PRKCG, PRKCE, PRKCD, PRKCZ, ANK1, ANK3, NME1, YWHAG, WHSC1, UBC, ALB, YWHAE, CFTR, BTRC, CSNK1A1, CSNK1E, FBXW11, DARS, KBTBD6, KBTBD7, CTDSPL, KCTD3, KIF13B, ZBTB21, KSR1, GIGYF1, LRFN1, DENND1A, SH3PXD2A, SRGAP2, EIF4E2, SIPA1L1, CGN, RTKN, MAST3, LIMA1, MAGI1, PPM1H, TESK2, DCLK1, ZNF638, DENND4C, SRSF12, SYDE1, AGAP1, CDC25B, CDK16, HDAC4, MAPKAP1, NF1, FAM110B, USP21, CBY1, ANKRD34A, FAM53C, NADK, CDC25C, FAM110A, CAMSAP2, KIAA1804, RASAL2, GIGYF2, PHLDB2, PLEKHA7, KIF1C, INPP5E |
| - 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 AFG3L2_TIAM1 |
| 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 AFG3L2_TIAM1 |
| Diseases associated with fusion partners. (DisGeNet 4.0) |
| Partner | Gene | Disease ID | Disease name | # pubmeds | Source |
| Hgene | AFG3L2 | C1853249 | SPINOCEREBELLAR ATAXIA 28 | 5 | CTD_human;ORPHANET;UNIPROT |
| Hgene | AFG3L2 | C0087012 | Ataxia, Spinocerebellar | 1 | CTD_human |
| Hgene | AFG3L2 | C0751778 | Myoclonic Epilepsies, Progressive | 1 | CTD_human;HPO |
| Hgene | AFG3L2 | C3280977 | SPASTIC ATAXIA 5, AUTOSOMAL RECESSIVE | 1 | ORPHANET;UNIPROT |
| Tgene | TIAM1 | C1862939 | AMYOTROPHIC LATERAL SCLEROSIS 1 | 1 | CTD_human |
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