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Fusion gene ID: 12246 |
FusionGeneSummary for EXD2_FAM162A |
 Fusion gene summary |
| Fusion gene information | Fusion gene name: EXD2_FAM162A | Fusion gene ID: 12246 | Hgene | Tgene | Gene symbol | EXD2 | FAM162A | Gene ID | 55218 | 26355 |
| Gene name | exonuclease 3'-5' domain containing 2 | family with sequence similarity 162 member A | |
| Synonyms | C14orf114|EXDL2 | C3orf28|E2IG5|HGTD-P | |
| Cytomap | 14q24.1 | 3q21.1 | |
| Type of gene | protein-coding | protein-coding | |
| Description | exonuclease 3'-5' domain-containing protein 2exonuclease 3'-5' domain-like 2exonuclease 3'-5' domain-like-containing protein 2 | protein FAM162AE2-induced gene 5 proteinHIF-1 alpha-responsive proapoptotic moleculegrowth and transformation-dependent protein | |
| Modification date | 20180523 | 20180519 | |
| UniProtAcc | Q9NVH0 | Q96A26 | |
| Ensembl transtripts involved in fusion gene | ENST00000409018, ENST00000492815, ENST00000409014, ENST00000409675, ENST00000409949, ENST00000409242, ENST00000312994, ENST00000449989, | ENST00000232125, ENST00000477892, ENST00000469967, | |
| Fusion gene scores | * DoF score | 3 X 4 X 2=24 | 3 X 3 X 2=18 |
| # samples | 4 | 3 | |
| ** MAII score | log2(4/24*10)=0.736965594166206 effective Gene in Pan-Cancer Fusion Genes (eGinPCFGs). DoF>8 and MAII>0 | log2(3/18*10)=0.736965594166206 effective Gene in Pan-Cancer Fusion Genes (eGinPCFGs). DoF>8 and MAII>0 | |
| Context | PubMed: EXD2 [Title/Abstract] AND FAM162A [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 | EXD2 | GO:0000724 | double-strand break repair via homologous recombination | 26807646 |
| Hgene | EXD2 | GO:0000729 | DNA double-strand break processing | 26807646 |
| Hgene | EXD2 | GO:0006302 | double-strand break repair | 26807646 |
| Hgene | EXD2 | GO:0090305 | nucleic acid phosphodiester bond hydrolysis | 26807646 |
| Tgene | FAM162A | GO:0006919 | activation of cysteine-type endopeptidase activity involved in apoptotic process | 15082785 |
| Tgene | FAM162A | GO:0043065 | positive regulation of apoptotic process | 15082785 |
| Tgene | FAM162A | GO:0071456 | cellular response to hypoxia | 15082785 |
| Tgene | FAM162A | GO:0090200 | positive regulation of release of cytochrome c from mitochondria | 15082785 |
| 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 | BU565473 | EXD2 | chr14 | 69676499 | + | FAM162A | chr3 | 122128725 | + |
| * 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 | ENST00000409018 | ENST00000232125 | EXD2 | chr14 | 69676499 | + | FAM162A | chr3 | 122128725 | + |
| 5CDS-3UTR | ENST00000409018 | ENST00000477892 | EXD2 | chr14 | 69676499 | + | FAM162A | chr3 | 122128725 | + |
| 5CDS-intron | ENST00000409018 | ENST00000469967 | EXD2 | chr14 | 69676499 | + | FAM162A | chr3 | 122128725 | + |
| 3UTR-3UTR | ENST00000492815 | ENST00000232125 | EXD2 | chr14 | 69676499 | + | FAM162A | chr3 | 122128725 | + |
| 3UTR-3UTR | ENST00000492815 | ENST00000477892 | EXD2 | chr14 | 69676499 | + | FAM162A | chr3 | 122128725 | + |
| 3UTR-intron | ENST00000492815 | ENST00000469967 | EXD2 | chr14 | 69676499 | + | FAM162A | chr3 | 122128725 | + |
| 5UTR-3UTR | ENST00000409014 | ENST00000232125 | EXD2 | chr14 | 69676499 | + | FAM162A | chr3 | 122128725 | + |
| 5UTR-3UTR | ENST00000409014 | ENST00000477892 | EXD2 | chr14 | 69676499 | + | FAM162A | chr3 | 122128725 | + |
| 5UTR-intron | ENST00000409014 | ENST00000469967 | EXD2 | chr14 | 69676499 | + | FAM162A | chr3 | 122128725 | + |
| intron-3UTR | ENST00000409675 | ENST00000232125 | EXD2 | chr14 | 69676499 | + | FAM162A | chr3 | 122128725 | + |
| intron-3UTR | ENST00000409675 | ENST00000477892 | EXD2 | chr14 | 69676499 | + | FAM162A | chr3 | 122128725 | + |
| intron-intron | ENST00000409675 | ENST00000469967 | EXD2 | chr14 | 69676499 | + | FAM162A | chr3 | 122128725 | + |
| 5UTR-3UTR | ENST00000409949 | ENST00000232125 | EXD2 | chr14 | 69676499 | + | FAM162A | chr3 | 122128725 | + |
| 5UTR-3UTR | ENST00000409949 | ENST00000477892 | EXD2 | chr14 | 69676499 | + | FAM162A | chr3 | 122128725 | + |
| 5UTR-intron | ENST00000409949 | ENST00000469967 | EXD2 | chr14 | 69676499 | + | FAM162A | chr3 | 122128725 | + |
| 5UTR-3UTR | ENST00000409242 | ENST00000232125 | EXD2 | chr14 | 69676499 | + | FAM162A | chr3 | 122128725 | + |
| 5UTR-3UTR | ENST00000409242 | ENST00000477892 | EXD2 | chr14 | 69676499 | + | FAM162A | chr3 | 122128725 | + |
| 5UTR-intron | ENST00000409242 | ENST00000469967 | EXD2 | chr14 | 69676499 | + | FAM162A | chr3 | 122128725 | + |
| 5CDS-3UTR | ENST00000312994 | ENST00000232125 | EXD2 | chr14 | 69676499 | + | FAM162A | chr3 | 122128725 | + |
| 5CDS-3UTR | ENST00000312994 | ENST00000477892 | EXD2 | chr14 | 69676499 | + | FAM162A | chr3 | 122128725 | + |
| 5CDS-intron | ENST00000312994 | ENST00000469967 | EXD2 | chr14 | 69676499 | + | FAM162A | chr3 | 122128725 | + |
| 5UTR-3UTR | ENST00000449989 | ENST00000232125 | EXD2 | chr14 | 69676499 | + | FAM162A | chr3 | 122128725 | + |
| 5UTR-3UTR | ENST00000449989 | ENST00000477892 | EXD2 | chr14 | 69676499 | + | FAM162A | chr3 | 122128725 | + |
| 5UTR-intron | ENST00000449989 | ENST00000469967 | EXD2 | chr14 | 69676499 | + | FAM162A | chr3 | 122128725 | + |
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FusionProtFeatures for EXD2_FAM162A |
| Main function of each fusion partner protein. (from UniProt) |
| Hgene | Tgene |
| EXD2 | FAM162A |
| Exonuclease required for double-strand breaks resectionand efficient homologous recombination. Plays a key role incontrolling the initial steps of chromosomal break repair, it isrecruited to chromatin in a damage-dependent manner andfunctionally interacts with the MRN complex to accelerateresection through its 3'-5' exonuclease activity, whichefficiently processes double-stranded DNA substrates containingnicks. {ECO:0000269|PubMed:20603073, ECO:0000269|PubMed:26807646}. | Proposed to be involved in regulation of apoptosis; theexact mechanism may differ between cell types/tissues. May beinvolved in hypoxia-induced cell death of transformed cellsimplicating cytochrome C release and caspase activation (such asCASP9) and inducing mitochondrial permeability transition. May beinvolved in hypoxia-induced cell death of neuronal cells probablyby promoting release of AIFM1 from mitochondria to cytoplasm andits translocation to the nucleus; however, the involvement ofcaspases has been reported conflictingly.{ECO:0000269|PubMed:15082785}. |
| 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 EXD2_FAM162A |
| 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 EXD2_FAM162A |
| 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 EXD2_FAM162A |
| 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 EXD2_FAM162A |
| Diseases associated with fusion partners. (DisGeNet 4.0) |
| Partner | Gene | Disease ID | Disease name | # pubmeds | Source |
Copyright 2018-Present -The University of Texas Health Science Center at Houston (UTHealth)
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