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Fusion gene ID: 20001 |
FusionGeneSummary for LPGAT1_SIX1 |
 Fusion gene summary |
| Fusion gene information | Fusion gene name: LPGAT1_SIX1 | Fusion gene ID: 20001 | Hgene | Tgene | Gene symbol | LPGAT1 | SIX1 | Gene ID | 9926 | 6495 |
| Gene name | lysophosphatidylglycerol acyltransferase 1 | SIX homeobox 1 | |
| Synonyms | FAM34A|FAM34A1|NET8 | BOS3|DFNA23|TIP39 | |
| Cytomap | 1q32.3 | 14q23.1 | |
| Type of gene | protein-coding | protein-coding | |
| Description | acyl-CoA:lysophosphatidylglycerol acyltransferase 1family with sequence similarity 34, member A | homeobox protein SIX1sine oculis homeobox homolog 1 | |
| Modification date | 20180523 | 20180527 | |
| UniProtAcc | Q92604 | Q15475 | |
| Ensembl transtripts involved in fusion gene | ENST00000366997, ENST00000366996, ENST00000488600, | ENST00000247182, ENST00000554986, | |
| Fusion gene scores | * DoF score | 2 X 2 X 1=4 | 3 X 4 X 2=24 |
| # samples | 2 | 4 | |
| ** MAII score | log2(2/4*10)=2.32192809488736 | log2(4/24*10)=0.736965594166206 effective Gene in Pan-Cancer Fusion Genes (eGinPCFGs). DoF>8 and MAII>0 | |
| Context | PubMed: LPGAT1 [Title/Abstract] AND SIX1 [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 | SIX1 | GO:0034504 | protein localization to nucleus | 19497856 |
| Tgene | SIX1 | GO:0045944 | positive regulation of transcription by RNA polymerase II | 15141091 |
| 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 | CB267058 | LPGAT1 | chr1 | 211950561 | - | SIX1 | chr14 | 61112995 | - |
| * 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-3UTR | ENST00000366997 | ENST00000247182 | LPGAT1 | chr1 | 211950561 | - | SIX1 | chr14 | 61112995 | - |
| intron-3UTR | ENST00000366997 | ENST00000554986 | LPGAT1 | chr1 | 211950561 | - | SIX1 | chr14 | 61112995 | - |
| intron-3UTR | ENST00000366996 | ENST00000247182 | LPGAT1 | chr1 | 211950561 | - | SIX1 | chr14 | 61112995 | - |
| intron-3UTR | ENST00000366996 | ENST00000554986 | LPGAT1 | chr1 | 211950561 | - | SIX1 | chr14 | 61112995 | - |
| intron-3UTR | ENST00000488600 | ENST00000247182 | LPGAT1 | chr1 | 211950561 | - | SIX1 | chr14 | 61112995 | - |
| intron-3UTR | ENST00000488600 | ENST00000554986 | LPGAT1 | chr1 | 211950561 | - | SIX1 | chr14 | 61112995 | - |
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FusionProtFeatures for LPGAT1_SIX1 |
| Main function of each fusion partner protein. (from UniProt) |
| Hgene | Tgene |
| LPGAT1 | SIX1 |
| Lysophosphatidylglycerol (LPG) specific acyltransferasethat recognizes various acyl-CoAs and LPGs as substrates butdemonstrates a clear preference for long chain saturated fattyacyl-CoAs and oleoyl-CoA as acyl donors. Prefers oleoyl-LPG overpalmitoyl-LPG as an acyl receptor and oleoyl-CoA over lauroyl-CoAas an acyl donor. {ECO:0000269|PubMed:15485873}. | Transcription factor that is involved in the regulationof cell proliferation, apoptosis and embryonic development. Playsan important role in the development of several organs, includingkidney, muscle and inner ear. Depending on context, functions astranscriptional repressor or activator. Lacks an activationdomain, and requires interaction with EYA family members fortranscription activation. Mediates nuclear translocation of EYA1and EYA2. Binds the 5'-TCA[AG][AG]TTNC-3' motif present in theMEF3 element in the MYOG promoter. Regulates the expression ofnumerous genes, including MYC, CCND1 and EZR. Acts as activator ofthe IGFBP5 promoter, probably coactivated by EYA2. Repression ofprecursor cell proliferation in myoblasts is switched toactivation through recruitment of EYA3 to the SIX1-DACH1 complex.During myogenesis, seems to act together with EYA2 and DACH2 (Bysimilarity). Regulates the expression of CCNA1. {ECO:0000250,ECO:0000269|PubMed:15123840, ECO:0000269|PubMed:15141091,ECO:0000269|PubMed:19497856, ECO:0000269|PubMed:23435380}. |
| 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 LPGAT1_SIX1 |
| 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 LPGAT1_SIX1 |
| 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 LPGAT1_SIX1 |
| 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 LPGAT1_SIX1 |
| Diseases associated with fusion partners. (DisGeNet 4.0) |
| Partner | Gene | Disease ID | Disease name | # pubmeds | Source |
| Hgene | LPGAT1 | C0043094 | Weight Gain | 1 | CTD_human |
| Tgene | SIX1 | C1842124 | BRANCHIOOTIC SYNDROME 3 (disorder) | 4 | CTD_human;UNIPROT |
| Tgene | SIX1 | C0000768 | Congenital Abnormality | 1 | CTD_human |
| Tgene | SIX1 | C0376634 | Craniofacial Abnormalities | 1 | CTD_human |
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