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Fusion gene ID: 20001 |
FusionGeneSummary for LPGAT1_SIX1 |
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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) |
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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 |
![]() (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 |
![]() * 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 |
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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}. |
![]() * 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 |
![]() (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 |
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Hgene | Hgene's interactors | Tgene | Tgene's interactors |
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Partner | Gene | Hbp | Tbp | ENST | Strand | BPexon | TotalExon | Protein feature loci | *BPloci | TotalLen | Still interaction with |
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Partner | Gene | Hbp | Tbp | ENST | Strand | BPexon | TotalExon | Protein feature loci | *BPloci | TotalLen | Interaction lost with |
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Partner | Gene | Hbp | Tbp | ENST | Strand | BPexon | TotalExon | Protein feature loci | *BPloci | TotalLen | Interaction lost with |
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RelatedDrugs for LPGAT1_SIX1 |
![]() (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 |
![]() (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 |