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Fusion gene ID: 3188 |
FusionGeneSummary for ATG4D_C4orf22 |
 Fusion gene summary |
| Fusion gene information | Fusion gene name: ATG4D_C4orf22 | Fusion gene ID: 3188 | Hgene | Tgene | Gene symbol | ATG4D | C4orf22 | Gene ID | 84971 |
| Gene name | autophagy related 4D cysteine peptidase | ||
| Synonyms | APG4-D|APG4D|AUTL4 | ||
| Cytomap | 19p13.2 | ||
| Type of gene | protein-coding | ||
| Description | cysteine protease ATG4DAPG4 autophagy 4 homolog DATG4 autophagy related 4 homolog DAUT-like 4 cysteine endopeptidaseautophagin-4autophagy-related cysteine endopeptidase 4autophagy-related protein 4 homolog Dcysteine protease involved in autophagy | ||
| Modification date | 20180519 | ||
| UniProtAcc | Q86TL0 | Q6V702 | |
| Ensembl transtripts involved in fusion gene | ENST00000309469, ENST00000540862, | ENST00000358105, ENST00000508675, ENST00000512931, | |
| Fusion gene scores | * DoF score | 3 X 3 X 3=27 | 5 X 5 X 3=75 |
| # samples | 3 | 5 | |
| ** MAII score | log2(3/27*10)=0.15200309344505 effective Gene in Pan-Cancer Fusion Genes (eGinPCFGs). DoF>8 and MAII>0 | log2(5/75*10)=-0.584962500721156 possibly effective Gene in Pan-Cancer Fusion Genes (peGinPCFGs). DoF>8 and MAII<0 | |
| Context | PubMed: ATG4D [Title/Abstract] AND C4orf22 [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 |
| 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 | BG393063 | ATG4D | chr19 | 10663766 | - | C4orf22 | chr4 | 81455000 | + |
| * 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 |
| 3UTR-intron | ENST00000309469 | ENST00000358105 | ATG4D | chr19 | 10663766 | - | C4orf22 | chr4 | 81455000 | + |
| 3UTR-intron | ENST00000309469 | ENST00000508675 | ATG4D | chr19 | 10663766 | - | C4orf22 | chr4 | 81455000 | + |
| 3UTR-intron | ENST00000309469 | ENST00000512931 | ATG4D | chr19 | 10663766 | - | C4orf22 | chr4 | 81455000 | + |
| 3UTR-intron | ENST00000540862 | ENST00000358105 | ATG4D | chr19 | 10663766 | - | C4orf22 | chr4 | 81455000 | + |
| 3UTR-intron | ENST00000540862 | ENST00000508675 | ATG4D | chr19 | 10663766 | - | C4orf22 | chr4 | 81455000 | + |
| 3UTR-intron | ENST00000540862 | ENST00000512931 | ATG4D | chr19 | 10663766 | - | C4orf22 | chr4 | 81455000 | + |
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FusionProtFeatures for ATG4D_C4orf22 |
| Main function of each fusion partner protein. (from UniProt) |
| Hgene | Tgene |
| ATG4D | C4orf22 |
| Cysteine protease ATG4D: Cysteine protease required forthe cytoplasm to vacuole transport (Cvt) and autophagy. Cleavesthe C-terminal amino acid of ATG8 family proteins MAP1LC3 andGABARAPL2, to reveal a C-terminal glycine. Exposure of the glycineat the C-terminus is essential for ATG8 proteins conjugation tophosphatidylethanolamine (PE) and insertion to membranes, which isnecessary for autophagy. Has also an activity of delipidatingenzyme for the PE-conjugated forms. Cysteine protease ATG4D, mitochondrial: Plays a role asan autophagy regulator that links mitochondrial dysfunction withapoptosis. The mitochondrial import of ATG4D during cellularstress and differentiation may play important roles in theregulation of mitochondrial physiology, ROS, mitophagy and cellviability. |
| 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 ATG4D_C4orf22 |
| 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 ATG4D_C4orf22 |
| 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 ATG4D_C4orf22 |
| 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 ATG4D_C4orf22 |
| Diseases associated with fusion partners. (DisGeNet 4.0) |
| Partner | Gene | Disease ID | Disease name | # pubmeds | Source |
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