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Fusion gene ID: 25310 |
FusionGeneSummary for OAF_APOA5 |
Fusion gene summary |
Fusion gene information | Fusion gene name: OAF_APOA5 | Fusion gene ID: 25310 | Hgene | Tgene | Gene symbol | OAF | APOA5 | Gene ID | 220323 | 116519 |
Gene name | out at first homolog | apolipoprotein A5 | |
Synonyms | NS5ATP13TP2 | APOAV|RAP3 | |
Cytomap | 11q23.3 | 11q23.3 | |
Type of gene | protein-coding | protein-coding | |
Description | out at first protein homologHCV NS5A-transactivated protein 13 target protein 2OAF homolog | apolipoprotein A-Vapo-AVapolipoprotein A-V precursor variant 3regeneration-associated protein 3 | |
Modification date | 20180519 | 20180523 | |
UniProtAcc | Q86UD1 | Q6Q788 | |
Ensembl transtripts involved in fusion gene | ENST00000328965, ENST00000531220, ENST00000534735, | ENST00000227665, ENST00000542499, | |
Fusion gene scores | * DoF score | 6 X 5 X 3=90 | 2 X 2 X 2=8 |
# samples | 6 | 2 | |
** MAII score | log2(6/90*10)=-0.584962500721156 possibly effective Gene in Pan-Cancer Fusion Genes (peGinPCFGs). DoF>8 and MAII<0 | log2(2/8*10)=1.32192809488736 | |
Context | PubMed: OAF [Title/Abstract] AND APOA5 [Title/Abstract] AND fusion [Title/Abstract] | ||
Functional or gene categories assigned by FusionGDB annotation | Tissue-specifically expressed gene involved fusion gene, inframe and retained their domain. |
* 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 | APOA5 | GO:0006641 | triglyceride metabolic process | 11588264 |
Tgene | APOA5 | GO:0006869 | lipid transport | 15178420 |
Tgene | APOA5 | GO:0010898 | positive regulation of triglyceride catabolic process | 18635818 |
Tgene | APOA5 | GO:0010902 | positive regulation of very-low-density lipoprotein particle remodeling | 18635818 |
Tgene | APOA5 | GO:0042632 | cholesterol homeostasis | 19121291 |
Tgene | APOA5 | GO:0045723 | positive regulation of fatty acid biosynthetic process | 18635818 |
Tgene | APOA5 | GO:0050996 | positive regulation of lipid catabolic process | 16806135 |
Tgene | APOA5 | GO:0051006 | positive regulation of lipoprotein lipase activity | 15178420|16806135|18635818 |
Tgene | APOA5 | GO:0055090 | acylglycerol homeostasis | 11588264 |
Tgene | APOA5 | GO:0070328 | triglyceride homeostasis | 19121291 |
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 | LIHC | TCGA-BC-A217-01A | OAF | chr11 | 120082218 | + | APOA5 | chr11 | 116661783 | - |
TCGA | LD | LIHC | TCGA-BC-A217-01A | OAF | chr11 | 120082218 | + | APOA5 | chr11 | 116662608 | - |
* 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 | ENST00000328965 | ENST00000227665 | OAF | chr11 | 120082218 | + | APOA5 | chr11 | 116661783 | - |
Frame-shift | ENST00000328965 | ENST00000542499 | OAF | chr11 | 120082218 | + | APOA5 | chr11 | 116661783 | - |
5UTR-3CDS | ENST00000531220 | ENST00000227665 | OAF | chr11 | 120082218 | + | APOA5 | chr11 | 116661783 | - |
5UTR-3CDS | ENST00000531220 | ENST00000542499 | OAF | chr11 | 120082218 | + | APOA5 | chr11 | 116661783 | - |
intron-3CDS | ENST00000534735 | ENST00000227665 | OAF | chr11 | 120082218 | + | APOA5 | chr11 | 116661783 | - |
intron-3CDS | ENST00000534735 | ENST00000542499 | OAF | chr11 | 120082218 | + | APOA5 | chr11 | 116661783 | - |
In-frame | ENST00000328965 | ENST00000227665 | OAF | chr11 | 120082218 | + | APOA5 | chr11 | 116662608 | - |
5CDS-5UTR | ENST00000328965 | ENST00000542499 | OAF | chr11 | 120082218 | + | APOA5 | chr11 | 116662608 | - |
5UTR-3CDS | ENST00000531220 | ENST00000227665 | OAF | chr11 | 120082218 | + | APOA5 | chr11 | 116662608 | - |
5UTR-5UTR | ENST00000531220 | ENST00000542499 | OAF | chr11 | 120082218 | + | APOA5 | chr11 | 116662608 | - |
intron-3CDS | ENST00000534735 | ENST00000227665 | OAF | chr11 | 120082218 | + | APOA5 | chr11 | 116662608 | - |
intron-5UTR | ENST00000534735 | ENST00000542499 | OAF | chr11 | 120082218 | + | APOA5 | chr11 | 116662608 | - |
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FusionProtFeatures for OAF_APOA5 |
Main function of each fusion partner protein. (from UniProt) |
Hgene | Tgene |
OAF | APOA5 |
Minor apolipoprotein mainly associated with HDL and to alesser extent with VLDL. May also be associated with chylomicrons.Important determinant of plasma triglyceride (TG) levels by bothbeing a potent stimulator of apo-CII lipoprotein lipase (LPL) TGhydrolysis and a inhibitor of the hepatic VLDL-TG production rate(without affecting the VLDL-apoB production rate) (By similarity).Activates poorly lecithin:cholesterol acyltransferase (LCAT) anddoes not enhance efflux of cholesterol from macrophages.{ECO:0000250, ECO:0000269|PubMed:11588264,ECO:0000269|PubMed:12899628, ECO:0000269|PubMed:15528295}. |
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 |
Tgene | >APOA5 | chr11:120082218 | chr11:116662608 | ENST00000227665 | - | -1 | 3 | 236_262 | 16 | 367 | Coiled coil | Ontology_term=ECO:0000255 |
Tgene | >APOA5 | chr11:120082218 | chr11:116662608 | ENST00000227665 | - | -1 | 3 | 54_157 | 16 | 367 | Coiled coil | Ontology_term=ECO:0000255 |
Tgene | >APOA5 | chr11:120082218 | chr11:116662608 | ENST00000542499 | - | 0 | 4 | 236_262 | -11 | 367 | Coiled coil | Ontology_term=ECO:0000255 |
Tgene | >APOA5 | chr11:120082218 | chr11:116662608 | ENST00000542499 | - | 0 | 4 | 54_157 | -11 | 367 | Coiled coil | Ontology_term=ECO:0000255 |
- 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 OAF_APOA5 |
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. |
>In-frame_OAF_ENST00000328965_chr11_120082218_+_APOA5_ENST00000227665_chr11_116662608_-_77aa |
* Fusion transcript sequences (only coding sequence (CDS) region). |
>In-frame_OAF_ENST00000328965_chr11_120082218_+_APOA5_ENST00000227665_chr11_116662608_-_231nt ATGCGCCTTCCCGGGGTACCCCTGGCGCGCCCTGCGCTGCTGCTGCTGCTGCCGCTGCTCGCGCCGCTGCTGGGAACGGGTGCGCCGGCC GAGCTGCGGGTCCGCGTGCGGCTGCCGGACGGCCAGGTGACCGAGGAGAGCCTGCAGGCGGACAGCGACGCGGACAGCATCAGCCTCGAG |
* Fusion transcript sequences (Full-length transcript). |
>In-frame_OAF_ENST00000328965_chr11_120082218_+_APOA5_ENST00000227665_chr11_116662608_-_2641nt AAACTTCTGACTCCGCCTGGGTCGCTGACTCCGCGCGGCCGGGCGGGAGGGAGGTCGAGGAGGCCGCTCGCACAAAGCCGCGGAGCCGCT GCCCCCTCTCCCCGCCCCCTGCCCGGCCAACGCCGAAGTGCGGAGAGCAGCCGCGGGCCCTTTAAGGGCCGCGAGGTGCGCGGTCTCTTT AAGGCGGGTCCTGGTGGTTTCTGTTTTCTGAAGGAAGTGACGGGGGGTGGGATTGAATGAAAAGTGCAAAACACAGGCTCGCAGCGCTGG AGCCCGGGGCCGCGGAGCCGGGCCGGGGCAGCGCCGTCTCCGCCTCGGGGCCGCCGGGGGCGCCCTGCTGAGCGCTACCCACGTGCGTCC GCGCCACCTCGCGGGCGACCCCGCGGCCAAGGCCCCCGGCGGAGCGGCTCCCGGGCGCCCCGAACTAGCCCCCAACTTTGGGCGAAGTTT GCCTGCGCCTCTCCCCGCCCCCACGCGGCGCGCCGGGGCCGCGGACGGCAGCGGCCCCCGGGGATGCGCCTTCCCGGGGTACCCCTGGCG CGCCCTGCGCTGCTGCTGCTGCTGCCGCTGCTCGCGCCGCTGCTGGGAACGGGTGCGCCGGCCGAGCTGCGGGTCCGCGTGCGGCTGCCG GACGGCCAGGTGACCGAGGAGAGCCTGCAGGCGGACAGCGACGCGGACAGCATCAGCCTCGAGCTGCGCAAGCCCGACGGCACCCTCGTC TCCTTCACCGCCGACTTCAAGAAGCAGGCCTCCCTCCACCTGTCTTCTCAGAGCAGGTAATGGCAAGCATGGCTGCCGTGCTCACCTGGG CTCTGGCTCTTCTTTCAGCGTTTTCGGCCACCCAGGCACGGAAAGGCTTCTGGGACTACTTCAGCCAGACCAGCGGGGACAAAGGCAGGG TGGAGCAGATCCATCAGCAGAAGATGGCTCGCGAGCCCGCGACCCTGAAAGACAGCCTTGAGCAAGACCTCAACAATATGAACAAGTTCC TGGAAAAGCTGAGGCCTCTGAGTGGGAGCGAGGCTCCTCGGCTCCCACAGGACCCGGTGGGCATGCGGCGGCAGCTGCAGGAGGAGTTGG AGGAGGTGAAGGCTCGCCTCCAGCCCTACATGGCAGAGGCGCACGAGCTGGTGGGCTGGAATTTGGAGGGCTTGCGGCAGCAACTGAAGC CCTACACGATGGATCTGATGGAGCAGGTGGCCCTGCGCGTGCAGGAGCTGCAGGAGCAGTTGCGCGTGGTGGGGGAAGACACCAAGGCCC AGTTGCTGGGGGGCGTGGACGAGGCTTGGGCTTTGCTGCAGGGACTGCAGAGCCGCGTGGTGCACCACACCGGCCGCTTCAAAGAGCTCT TCCACCCATACGCCGAGAGCCTGGTGAGCGGCATCGGGCGCCACGTGCAGGAGCTGCACCGCAGTGTGGCTCCGCACGCCCCCGCCAGCC CCGCGCGCCTCAGTCGCTGCGTGCAGGTGCTCTCCCGGAAGCTCACGCTCAAGGCCAAGGCCCTGCACGCACGCATCCAGCAGAACCTGG ACCAGCTGCGCGAAGAGCTCAGCAGAGCCTTTGCAGGCACTGGGACTGAGGAAGGGGCCGGCCCGGACCCCCAGATGCTCTCCGAGGAGG TGCGCCAGCGACTTCAGGCTTTCCGCCAGGACACCTACCTGCAGATAGCTGCCTTCACTCGCGCCATCGACCAGGAGACTGAGGAGGTCC AGCAGCAGCTGGCGCCACCTCCACCAGGCCACAGTGCCTTCGCCCCAGAGTTTCAACAAACAGACAGTGGCAAGGTTCTGAGCAAGCTGC AGGCCCGTCTGGATGACCTGTGGGAAGACATCACTCACAGCCTTCATGACCAGGGCCACAGCCATCTGGGGGACCCCTGAGGATCTACCT GCCCAGGCCCATTCCCAGCTCCTTGTCTGGGGAGCCTTGGCTCTGAGCCTCTAGCATGGTTCAGTCCTTGAAAGTGGCCTGTTGGGTGGA GGGTGGAAGGTCCTGTGCAGGACAGGGAGGCCACCAAAGGGGCTGCTGTCTCCTGCACATCCAGCCTCCTGCGACTCCCCAATCTGGATG CATTACATTCACCAGGCTTTGCAAACCCAGCCTCCCAGTGCTCATTTGGGAATGCTCATGAGTTACTCCATTCAAGGGTGAGGGAGTAGG GAGGGAGAGGCACCATGCATGTGGGTGATTATCTGCAAGCCTGTTTGCCGTGATGCTGGAAGCCTGTGCCACTACATCCTGGAGTTTGGC TCTAGTCACTTCTGGCTGCCTGGTGGCCACTGCTACAGCTGGTCCACAGAGAGGAGCACTTGTCTCCCCAGGGCTGCCATGGCAGCTATC AGGGGAATAGAAGGGAGAAAGAGAATATCATGGGGAGAACATGTGATGGTGTGTGAATATCCCTGCTGGCTCTGATGCTGGTGGGTACGA AAGGTGTGGGCTGTGATAGGAGAGGGCAGAGCCCATGTTTCCTGACATAGCTCTACACCTAAATAAGGGACTGAACCCTCCCAACTGTGG GAGCTCCTTAAACCCTCTGGGGAGCATACTGTGTGCTCTCCCCATCTCCAGCCCCTCCCTCTGGGTTCCCAAGTTGAAGCCTAGACTTCT |
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FusionGenePPI for OAF_APOA5 |
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 |
OAF | TM2D3, FCGR3B, HLA-DQB2, TRAC, CEACAM21, ST3GAL4, FIGF, ATP1B4, SIAE, NAAA, BOC, DKKL1, PLA2G10, ARL4C, SFTA2, ST8SIA4, CFB, CCL22, LYPD4, EPHA7, F9 | APOA5 | FAS, RAB5B, SMARCD1 |
- 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 OAF_APOA5 |
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 OAF_APOA5 |
Diseases associated with fusion partners. (DisGeNet 4.0) |
Partner | Gene | Disease ID | Disease name | # pubmeds | Source |
Tgene | APOA5 | C0020479 | Hyperlipoproteinemia Type III | 1 | CTD_human |
Tgene | APOA5 | C0020557 | Hypertriglyceridemia | 1 | CTD_human |
Tgene | APOA5 | C1956346 | Coronary Artery Disease | 1 | CTD_human |
Tgene | APOA5 | C2362324 | Pediatric Obesity | 1 | CTD_human |