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Fusion gene ID: 342 |
FusionGeneSummary for ACADVL_DLG4 |
 Fusion gene summary |
| Fusion gene information | Fusion gene name: ACADVL_DLG4 | Fusion gene ID: 342 | Hgene | Tgene | Gene symbol | ACADVL | DLG4 | Gene ID | 37 | 3996 |
| Gene name | acyl-CoA dehydrogenase very long chain | LLGL1, scribble cell polarity complex component | |
| Synonyms | ACAD6|LCACD|VLCAD | DLG4|HUGL|HUGL-1|HUGL1|LLGL|Lgl1|Mgl1 | |
| Cytomap | 17p13.1 | 17p11.2 | |
| Type of gene | protein-coding | protein-coding | |
| Description | very long-chain specific acyl-CoA dehydrogenase, mitochondrialacyl-Coenzyme A dehydrogenase, very long chain | lethal(2) giant larvae protein homolog 1human homolog to the D-lgl gene proteinlethal giant larvae homolog 1, scribble cell polarity complex component | |
| Modification date | 20180523 | 20180523 | |
| UniProtAcc | P49748 | P78352 | |
| Ensembl transtripts involved in fusion gene | ENST00000543245, ENST00000356839, ENST00000350303, ENST00000581562, | ENST00000399506, ENST00000302955, ENST00000399510, ENST00000485100, | |
| Fusion gene scores | * DoF score | 3 X 3 X 2=18 | 2 X 2 X 1=4 |
| # samples | 3 | 2 | |
| ** MAII score | log2(3/18*10)=0.736965594166206 effective Gene in Pan-Cancer Fusion Genes (eGinPCFGs). DoF>8 and MAII>0 | log2(2/4*10)=2.32192809488736 | |
| Context | PubMed: ACADVL [Title/Abstract] AND DLG4 [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 | ACADVL | GO:0033539 | fatty acid beta-oxidation using acyl-CoA dehydrogenase | 7668252 |
| Tgene | DLG4 | GO:0030866 | cortical actin cytoskeleton organization | 7542763 |
| Tgene | DLG4 | GO:0065003 | protein-containing complex assembly | 7542763 |
| 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 | AV751942 | ACADVL | chr17 | 7127691 | + | DLG4 | chr17 | 7123299 | + |
| * 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-intron | ENST00000543245 | ENST00000399506 | ACADVL | chr17 | 7127691 | + | DLG4 | chr17 | 7123299 | + |
| 5CDS-intron | ENST00000543245 | ENST00000302955 | ACADVL | chr17 | 7127691 | + | DLG4 | chr17 | 7123299 | + |
| 5CDS-intron | ENST00000543245 | ENST00000399510 | ACADVL | chr17 | 7127691 | + | DLG4 | chr17 | 7123299 | + |
| 5CDS-intron | ENST00000543245 | ENST00000485100 | ACADVL | chr17 | 7127691 | + | DLG4 | chr17 | 7123299 | + |
| 5CDS-intron | ENST00000356839 | ENST00000399506 | ACADVL | chr17 | 7127691 | + | DLG4 | chr17 | 7123299 | + |
| 5CDS-intron | ENST00000356839 | ENST00000302955 | ACADVL | chr17 | 7127691 | + | DLG4 | chr17 | 7123299 | + |
| 5CDS-intron | ENST00000356839 | ENST00000399510 | ACADVL | chr17 | 7127691 | + | DLG4 | chr17 | 7123299 | + |
| 5CDS-intron | ENST00000356839 | ENST00000485100 | ACADVL | chr17 | 7127691 | + | DLG4 | chr17 | 7123299 | + |
| 5CDS-intron | ENST00000350303 | ENST00000399506 | ACADVL | chr17 | 7127691 | + | DLG4 | chr17 | 7123299 | + |
| 5CDS-intron | ENST00000350303 | ENST00000302955 | ACADVL | chr17 | 7127691 | + | DLG4 | chr17 | 7123299 | + |
| 5CDS-intron | ENST00000350303 | ENST00000399510 | ACADVL | chr17 | 7127691 | + | DLG4 | chr17 | 7123299 | + |
| 5CDS-intron | ENST00000350303 | ENST00000485100 | ACADVL | chr17 | 7127691 | + | DLG4 | chr17 | 7123299 | + |
| intron-intron | ENST00000581562 | ENST00000399506 | ACADVL | chr17 | 7127691 | + | DLG4 | chr17 | 7123299 | + |
| intron-intron | ENST00000581562 | ENST00000302955 | ACADVL | chr17 | 7127691 | + | DLG4 | chr17 | 7123299 | + |
| intron-intron | ENST00000581562 | ENST00000399510 | ACADVL | chr17 | 7127691 | + | DLG4 | chr17 | 7123299 | + |
| intron-intron | ENST00000581562 | ENST00000485100 | ACADVL | chr17 | 7127691 | + | DLG4 | chr17 | 7123299 | + |
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FusionProtFeatures for ACADVL_DLG4 |
| Main function of each fusion partner protein. (from UniProt) |
| Hgene | Tgene |
| ACADVL | DLG4 |
| Active toward esters of long-chain and very long chainfatty acids such as palmitoyl-CoA, myristoyl-CoA and stearoyl-CoA.Can accommodate substrate acyl chain lengths as long as 24carbons, but shows little activity for substrates of less than 12carbons. {ECO:0000269|PubMed:18227065}. | Interacts with the cytoplasmic tail of NMDA receptorsubunits and shaker-type potassium channels. Required for synapticplasticity associated with NMDA receptor signaling. Overexpressionor depletion of DLG4 changes the ratio of excitatory to inhibitorysynapses in hippocampal neurons. May reduce the amplitude of ASIC3acid-evoked currents by retaining the channel intracellularly. Mayregulate the intracellular trafficking of ADR1B. Also regulatesAMPA-type glutamate receptor (AMPAR) immobilization atpostsynaptic density keeping the channels in an activated state inthe presence of glutamate and preventing synaptic depression.{ECO:0000250|UniProtKB:Q62108}. |
| 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 ACADVL_DLG4 |
| 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 ACADVL_DLG4 |
| 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 ACADVL_DLG4 |
| 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 ACADVL_DLG4 |
| Diseases associated with fusion partners. (DisGeNet 4.0) |
| Partner | Gene | Disease ID | Disease name | # pubmeds | Source |
| Hgene | ACADVL | C3887523 | Very long chain acyl-CoA dehydrogenase deficiency | 4 | CTD_human;ORPHANET;UNIPROT |
| Hgene | ACADVL | C0242184 | Hypoxia | 1 | CTD_human |
| Tgene | DLG4 | C0005586 | Bipolar Disorder | 4 | PSYGENET |
| Tgene | DLG4 | C0041696 | Unipolar Depression | 4 | PSYGENET |
| Tgene | DLG4 | C1269683 | Major Depressive Disorder | 4 | PSYGENET |
| Tgene | DLG4 | C0036341 | Schizophrenia | 3 | PSYGENET |
| Tgene | DLG4 | C0525045 | Mood Disorders | 3 | PSYGENET |
| Tgene | DLG4 | C0011570 | Mental Depression | 1 | PSYGENET |
| Tgene | DLG4 | C0011581 | Depressive disorder | 1 | PSYGENET |
| Tgene | DLG4 | C0032460 | Polycystic Ovary Syndrome | 1 | CTD_human |
| Tgene | DLG4 | C0175702 | Williams Syndrome | 1 | CTD_human |
| Tgene | DLG4 | C1510586 | Autism Spectrum Disorders | 1 | CTD_human |
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