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Fusion gene ID: 15865 |
FusionGeneSummary for HBA2_PEG10 |
 Fusion gene summary |
| Fusion gene information | Fusion gene name: HBA2_PEG10 | Fusion gene ID: 15865 | Hgene | Tgene | Gene symbol | HBA2 | PEG10 | Gene ID | 3040 | 23089 |
| Gene name | hemoglobin subunit alpha 2 | paternally expressed 10 | |
| Synonyms | HBA-T2|HBH | EDR|HB-1|MEF3L|Mar2|Mart2|RGAG3|RTL2|SIRH1 | |
| Cytomap | 16p13.3 | 7q21.3 | |
| Type of gene | protein-coding | protein-coding | |
| Description | hemoglobin subunit alphaalpha globinalpha-2 globinhemoglobin alpha chainhemoglobin, alpha 2mutant hemoglobin alpha 2 globin chain | retrotransposon-derived protein PEG10MEF3 like 1Sushi-Ichi retrotransposon homolog 1embryonal carcinoma differentiation regulatedmammalian retrotransposon-derived 2mammalian retrotransposon-derived protein 2myelin expression factor 3-like protein 1 | |
| Modification date | 20180523 | 20180519 | |
| UniProtAcc | P69905 | Q86TG7 | |
| Ensembl transtripts involved in fusion gene | ENST00000251595, ENST00000397806, | ENST00000482108, ENST00000488574, ENST00000465184, | |
| Fusion gene scores | * DoF score | 6 X 6 X 2=72 | 7 X 10 X 1=70 |
| # samples | 7 | 12 | |
| ** MAII score | log2(7/72*10)=-0.0406419844973459 possibly effective Gene in Pan-Cancer Fusion Genes (peGinPCFGs). DoF>8 and MAII<0 | log2(12/70*10)=0.777607578663552 effective Gene in Pan-Cancer Fusion Genes (eGinPCFGs). DoF>8 and MAII>0 | |
| Context | PubMed: HBA2 [Title/Abstract] AND PEG10 [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 |
| Hgene | HBA2 | GO:0010942 | positive regulation of cell death | 19740759 |
| Hgene | HBA2 | GO:0042542 | response to hydrogen peroxide | 19740759 |
| Hgene | HBA2 | GO:0042744 | hydrogen peroxide catabolic process | 19740759 |
| Hgene | HBA2 | GO:0051291 | protein heterooligomerization | 19740759 |
| Tgene | PEG10 | GO:0030512 | negative regulation of transforming growth factor beta receptor signaling pathway | 15611116 |
| 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 | T95813 | HBA2 | chr16 | 223587 | + | PEG10 | chr7 | 94298888 | + | ||
| ChiTaRS3.1 | R10023 | HBA2 | chr16 | 223587 | + | PEG10 | chr7 | 94298889 | + |
| * 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 |
| 5CDS-3UTR | ENST00000251595 | ENST00000482108 | HBA2 | chr16 | 223587 | + | PEG10 | chr7 | 94298888 | + |
| 5CDS-intron | ENST00000251595 | ENST00000488574 | HBA2 | chr16 | 223587 | + | PEG10 | chr7 | 94298888 | + |
| 5CDS-intron | ENST00000251595 | ENST00000465184 | HBA2 | chr16 | 223587 | + | PEG10 | chr7 | 94298888 | + |
| 5CDS-3UTR | ENST00000397806 | ENST00000482108 | HBA2 | chr16 | 223587 | + | PEG10 | chr7 | 94298888 | + |
| 5CDS-intron | ENST00000397806 | ENST00000488574 | HBA2 | chr16 | 223587 | + | PEG10 | chr7 | 94298888 | + |
| 5CDS-intron | ENST00000397806 | ENST00000465184 | HBA2 | chr16 | 223587 | + | PEG10 | chr7 | 94298888 | + |
| 5CDS-3UTR | ENST00000251595 | ENST00000482108 | HBA2 | chr16 | 223587 | + | PEG10 | chr7 | 94298889 | + |
| 5CDS-intron | ENST00000251595 | ENST00000488574 | HBA2 | chr16 | 223587 | + | PEG10 | chr7 | 94298889 | + |
| 5CDS-intron | ENST00000251595 | ENST00000465184 | HBA2 | chr16 | 223587 | + | PEG10 | chr7 | 94298889 | + |
| 5CDS-3UTR | ENST00000397806 | ENST00000482108 | HBA2 | chr16 | 223587 | + | PEG10 | chr7 | 94298889 | + |
| 5CDS-intron | ENST00000397806 | ENST00000488574 | HBA2 | chr16 | 223587 | + | PEG10 | chr7 | 94298889 | + |
| 5CDS-intron | ENST00000397806 | ENST00000465184 | HBA2 | chr16 | 223587 | + | PEG10 | chr7 | 94298889 | + |
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FusionProtFeatures for HBA2_PEG10 |
| Main function of each fusion partner protein. (from UniProt) |
| Hgene | Tgene |
| HBA2 | PEG10 |
| Involved in oxygen transport from the lung to thevarious peripheral tissues. | Prevents apoptosis in hepatocellular carcinoma (HCC)cells through interaction with SIAH1, a mediator of apoptosis. Mayalso have a role in cell growth promotion and hepatoma formation.Inhibits the TGF-beta signaling by interacting with the TGF-betareceptor ALK1. When overexpressed, induces the formation ofcellular extension, such as filipodia in association with ALK1.Involved at the immediate early stage of adipocyte differentiation(By similarity). May bind to the 5'-GCCTGTCTTT-3' DNA sequence ofthe MB1 domain in the myelin basic protein (MBP) promoter (Bysimilarity). {ECO:0000250, ECO:0000269|PubMed:12810624,ECO:0000269|PubMed:15611116, ECO:0000269|PubMed:16423995,ECO:0000269|PubMed:17369855}. |
| 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 HBA2_PEG10 |
| 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 HBA2_PEG10 |
| 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 HBA2_PEG10 |
| 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 |
| Hgene | HBA2 | P69905 | DB01592 | Iron | Hemoglobin subunit alpha | small molecule | approved |
| Hgene | HBA2 | P69905 | DB09146 | Iron saccharate | Hemoglobin subunit alpha | small molecule | approved |
| Hgene | HBA2 | P69905 | DB00358 | Mefloquine | Hemoglobin subunit alpha | small molecule | approved|investigational |
| Hgene | HBA2 | P69905 | DB01593 | Zinc | Hemoglobin subunit alpha | small molecule | approved|investigational |
| Hgene | HBA2 | P69905 | DB09112 | Nitrous acid | Hemoglobin subunit alpha | small molecule | approved|investigational |
| Hgene | HBA2 | P69905 | DB09140 | Oxygen | Hemoglobin subunit alpha | small molecule | approved|vet_approved |
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RelatedDiseases for HBA2_PEG10 |
| Diseases associated with fusion partners. (DisGeNet 4.0) |
| Partner | Gene | Disease ID | Disease name | # pubmeds | Source |
| Hgene | HBA2 | C0002312 | alpha-Thalassemia | 2 | CTD_human |
| Hgene | HBA2 | C0005283 | beta Thalassemia | 1 | CTD_human |
| Hgene | HBA2 | C0263454 | Chloracne | 1 | CTD_human |
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