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Fusion gene ID: 10937 |
FusionGeneSummary for EDIL3_ABAT |
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Fusion gene information | Fusion gene name: EDIL3_ABAT | Fusion gene ID: 10937 | Hgene | Tgene | Gene symbol | EDIL3 | ABAT | Gene ID | 10085 | 18 |
Gene name | EGF like repeats and discoidin domains 3 | 4-aminobutyrate aminotransferase | |
Synonyms | DEL1 | GABA-AT|GABAT|NPD009 | |
Cytomap | 5q14.3 | 16p13.2 | |
Type of gene | protein-coding | protein-coding | |
Description | EGF-like repeat and discoidin I-like domain-containing protein 3EGF-like repeats and discoidin I-like domains 3developmental endothelial locus-1developmentally-regulated endothelial cell locus 1 proteinintegrin-binding protein DEL1 | 4-aminobutyrate aminotransferase, mitochondrial(S)-3-amino-2-methylpropionate transaminase4-aminobutyrate transaminaseGABA aminotransferaseGABA transaminaseGABA transferasegamma-amino-N-butyrate transaminase | |
Modification date | 20180527 | 20180523 | |
UniProtAcc | O43854 | P80404 | |
Ensembl transtripts involved in fusion gene | ENST00000296591, ENST00000380138, ENST00000510271, | ENST00000268251, ENST00000396600, ENST00000563215, ENST00000567812, ENST00000425191, ENST00000569156, | |
Fusion gene scores | * DoF score | 2 X 2 X 2=8 | 6 X 6 X 4=144 |
# samples | 2 | 6 | |
** MAII score | log2(2/8*10)=1.32192809488736 | log2(6/144*10)=-1.26303440583379 possibly effective Gene in Pan-Cancer Fusion Genes (peGinPCFGs). DoF>8 and MAII<0 | |
Context | PubMed: EDIL3 [Title/Abstract] AND ABAT [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) |
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Partner | Gene | GO ID | GO term | PubMed ID |
![]() (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 | BF944944 | EDIL3 | chr5 | 83449119 | + | ABAT | chr16 | 8835350 | - |
* LD: Li Ding group's fusion gene list RV: Roel Verhaak group's fusion gene list ChiTaRs fusion database |
![]() * 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 |
intron-intron | ENST00000296591 | ENST00000268251 | EDIL3 | chr5 | 83449119 | + | ABAT | chr16 | 8835350 | - |
intron-intron | ENST00000296591 | ENST00000396600 | EDIL3 | chr5 | 83449119 | + | ABAT | chr16 | 8835350 | - |
intron-intron | ENST00000296591 | ENST00000563215 | EDIL3 | chr5 | 83449119 | + | ABAT | chr16 | 8835350 | - |
intron-intron | ENST00000296591 | ENST00000567812 | EDIL3 | chr5 | 83449119 | + | ABAT | chr16 | 8835350 | - |
intron-intron | ENST00000296591 | ENST00000425191 | EDIL3 | chr5 | 83449119 | + | ABAT | chr16 | 8835350 | - |
intron-intron | ENST00000296591 | ENST00000569156 | EDIL3 | chr5 | 83449119 | + | ABAT | chr16 | 8835350 | - |
intron-intron | ENST00000380138 | ENST00000268251 | EDIL3 | chr5 | 83449119 | + | ABAT | chr16 | 8835350 | - |
intron-intron | ENST00000380138 | ENST00000396600 | EDIL3 | chr5 | 83449119 | + | ABAT | chr16 | 8835350 | - |
intron-intron | ENST00000380138 | ENST00000563215 | EDIL3 | chr5 | 83449119 | + | ABAT | chr16 | 8835350 | - |
intron-intron | ENST00000380138 | ENST00000567812 | EDIL3 | chr5 | 83449119 | + | ABAT | chr16 | 8835350 | - |
intron-intron | ENST00000380138 | ENST00000425191 | EDIL3 | chr5 | 83449119 | + | ABAT | chr16 | 8835350 | - |
intron-intron | ENST00000380138 | ENST00000569156 | EDIL3 | chr5 | 83449119 | + | ABAT | chr16 | 8835350 | - |
intron-intron | ENST00000510271 | ENST00000268251 | EDIL3 | chr5 | 83449119 | + | ABAT | chr16 | 8835350 | - |
intron-intron | ENST00000510271 | ENST00000396600 | EDIL3 | chr5 | 83449119 | + | ABAT | chr16 | 8835350 | - |
intron-intron | ENST00000510271 | ENST00000563215 | EDIL3 | chr5 | 83449119 | + | ABAT | chr16 | 8835350 | - |
intron-intron | ENST00000510271 | ENST00000567812 | EDIL3 | chr5 | 83449119 | + | ABAT | chr16 | 8835350 | - |
intron-intron | ENST00000510271 | ENST00000425191 | EDIL3 | chr5 | 83449119 | + | ABAT | chr16 | 8835350 | - |
intron-intron | ENST00000510271 | ENST00000569156 | EDIL3 | chr5 | 83449119 | + | ABAT | chr16 | 8835350 | - |
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FusionProtFeatures for EDIL3_ABAT |
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Hgene | Tgene |
EDIL3 | ABAT |
Promotes adhesion of endothelial cells throughinteraction with the alpha-v/beta-3 integrin receptor. Inhibitsformation of vascular-like structures. May be involved inregulation of vascular morphogenesis of remodeling in embryonicdevelopment. | Catalyzes the conversion of gamma-aminobutyrate and L-beta-aminoisobutyrate to succinate semialdehyde and methylmalonatesemialdehyde, respectively. Can also convert delta-aminovalerateand beta-alanine. |
![]() * 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 EDIL3_ABAT |
![]() (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 EDIL3_ABAT |
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Hgene | Hgene's interactors | Tgene | Tgene's interactors |
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Partner | Gene | Hbp | Tbp | ENST | Strand | BPexon | TotalExon | Protein feature loci | *BPloci | TotalLen | Still interaction with |
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Partner | Gene | Hbp | Tbp | ENST | Strand | BPexon | TotalExon | Protein feature loci | *BPloci | TotalLen | Interaction lost with |
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Partner | Gene | Hbp | Tbp | ENST | Strand | BPexon | TotalExon | Protein feature loci | *BPloci | TotalLen | Interaction lost with |
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RelatedDrugs for EDIL3_ABAT |
![]() (DrugBank Version 5.1.0 2018-04-02) |
Partner | Gene | UniProtAcc | DrugBank ID | Drug name | Drug activity | Drug type | Drug status |
Tgene | ABAT | P80404 | DB00780 | Phenelzine | 4-aminobutyrate aminotransferase, mitochondrial | small molecule | approved |
Tgene | ABAT | P80404 | DB01080 | Vigabatrin | 4-aminobutyrate aminotransferase, mitochondrial | small molecule | approved |
Tgene | ABAT | P80404 | DB00313 | Valproic Acid | 4-aminobutyrate aminotransferase, mitochondrial | small molecule | approved|investigational |
Tgene | ABAT | P80404 | DB00114 | Pyridoxal Phosphate | 4-aminobutyrate aminotransferase, mitochondrial | small molecule | approved|investigational|nutraceutical |
Tgene | ABAT | P80404 | DB00142 | Glutamic Acid | 4-aminobutyrate aminotransferase, mitochondrial | small molecule | approved|nutraceutical |
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RelatedDiseases for EDIL3_ABAT |
![]() (DisGeNet 4.0) |
Partner | Gene | Disease ID | Disease name | # pubmeds | Source |
Hgene | EDIL3 | C0029408 | Degenerative polyarthritis | 1 | CTD_human |
Tgene | ABAT | C0004352 | Autistic Disorder | 1 | CTD_human |
Tgene | ABAT | C0017168 | Gastroesophageal reflux disease | 1 | CTD_human |
Tgene | ABAT | C0023380 | Lethargy | 1 | CTD_human;HPO |
Tgene | ABAT | C0023893 | Liver Cirrhosis, Experimental | 1 | CTD_human |
Tgene | ABAT | C0026827 | Muscle hypotonia | 1 | CTD_human |
Tgene | ABAT | C0033922 | Psychomotor Disorders | 1 | CTD_human |
Tgene | ABAT | C0034933 | Reflex, Abnormal | 1 | CTD_human |
Tgene | ABAT | C0036572 | Seizures | 1 | CTD_human;HPO |
Tgene | ABAT | C0342708 | Gamma aminobutyric acid transaminase deficiency | 1 | CTD_human;ORPHANET;UNIPROT |