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Fusion Gene Summary

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Fusion Gene ORF analysis

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Fusion Genomic Features

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Fusion Protein Features

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Fusion Gene Sequence

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Fusion Gene PPI analysis

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Related Drugs

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Related Diseases

Fusion gene:EDIL3-ABAT (FusionGDB2 ID:HG10085TG18)

Fusion Gene Summary for EDIL3-ABAT

check button Fusion gene summary
Fusion gene informationFusion gene name: EDIL3-ABAT
Fusion gene ID: hg10085tg18
HgeneTgene
Gene symbol

EDIL3

ABAT

Gene ID

10085

18

Gene nameEGF like repeats and discoidin domains 34-aminobutyrate aminotransferase
SynonymsDEL1GABA-AT|GABAT|NPD009
Cytomap('EDIL3')('ABAT')

5q14.3

16p13.2

Type of geneprotein-codingprotein-coding
DescriptionEGF-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 DEL14-aminobutyrate aminotransferase, mitochondrial(S)-3-amino-2-methylpropionate transaminase4-aminobutyrate transaminaseGABA aminotransferaseGABA transaminaseGABA transferasegamma-amino-N-butyrate transaminasegamma-aminobutyrate aminotransferase
Modification date2020031320200313
UniProtAcc..
Ensembl transtripts involved in fusion geneENST00000296591, ENST00000380138, 
ENST00000510271, 
Fusion gene scores* DoF score4 X 4 X 3=487 X 9 X 4=252
# samples 49
** MAII scorelog2(4/48*10)=-0.263034405833794
possibly effective Gene in Pan-Cancer Fusion Genes (peGinPCFGs).
DoF>8 and MAII<0		log2(9/252*10)=-1.48542682717024
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]

Most frequent breakpointEDIL3(83449119)-ABAT(8835350), # samples:1
Anticipated loss of major functional domain due to fusion event.
* DoF score (Degree of Frequency) = # partners X # break points X # cancer types
** MAII score (Major Active Isofusion Index) = log2(# samples/DoF score*10)

check button Gene ontology of each fusion partner gene with evidence of Inferred from Direct Assay (IDA) from Entrez
PartnerGeneGO IDGO termPubMed ID
TgeneABAT

GO:0009448

gamma-aminobutyric acid metabolic process

15528998



check button Fusion gene information
* 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.
SourceDiseaseSampleHgeneHchrHbpHstrandTgeneTchrTbpTstrand


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Fusion Gene ORF analysis for EDIL3-ABAT

check button 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.
ORFHenstTenstHgeneHchrHbpHstrandTgeneTchrTbpTstrand

check buttonORFfinder result based on the fusion transcript sequence of in-frame fusion genes.
HenstTenstHgeneHchrHbpHstrandTgeneTchrTbpTstrandSeq length
(transcript)		BP loci
(transcript)		Predicted start
(transcript)		Predicted stop
(transcript)		Seq length
(amino acids)

check buttonDeepORF prediction of the coding potential based on the fusion transcript sequence of in-frame fusion genes. DeepORF is a coding potential classifier based on convolutional neural network by comparing the real Ribo-seq data. If the no-coding score < 0.5 and coding score > 0.5, then the in-frame fusion transcript is predicted as being likely translated.
HenstTenstHgeneHchrHbpHstrandTgeneTchrTbpTstrandNo-coding scoreCoding score

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Fusion Genomic Features for EDIL3-ABAT


check buttonFusionAI prediction of the potential fusion gene breakpoint based on the pre-mature RNA sequence context (+/- 5kb of individual partner genes, total 20kb length sequence). FusionAI is a fusion gene breakpoint classifier based on convolutional neural network by comparing the fusion positive and negative sequence context of ~ 20K fusion gene data. From here, we can have the relative potentency of the 20K genomic sequence how individual sequnce will be likely used as the gene fusion breakpoints.
HgeneHchrHbpHstrandTgeneTchrTbpTstrand1-pp (fusion gene breakpoint)


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Fusion Protein Features for EDIL3-ABAT


check button Four levels of functional features of fusion genes
Go to FGviewer search page for the most frequent breakpoint (https://ccsmweb.uth.edu/FGviewer/:83449119/:8835350)
- FGviewer provides the online visualization of the retention search of the protein functional features across DNA, RNA, protein, and pathological levels.
- How to search
1. Put your fusion gene symbol.
2. Press the tab key until there will be shown the breakpoint information filled.
4. Go down and press 'Search' tab twice.
4. Go down to have the hyperlink of the search result.
5. Click the hyperlink.
6. See the FGviewer result for your fusion gene.
FGviewer

check buttonMain function of each fusion partner protein. (from UniProt)
HgeneTgene
..
FUNCTION: Transcriptional activator which is required for calcium-dependent dendritic growth and branching in cortical neurons. Recruits CREB-binding protein (CREBBP) to nuclear bodies. Component of the CREST-BRG1 complex, a multiprotein complex that regulates promoter activation by orchestrating a calcium-dependent release of a repressor complex and a recruitment of an activator complex. In resting neurons, transcription of the c-FOS promoter is inhibited by BRG1-dependent recruitment of a phospho-RB1-HDAC1 repressor complex. Upon calcium influx, RB1 is dephosphorylated by calcineurin, which leads to release of the repressor complex. At the same time, there is increased recruitment of CREBBP to the promoter by a CREST-dependent mechanism, which leads to transcriptional activation. The CREST-BRG1 complex also binds to the NR2B promoter, and activity-dependent induction of NR2B expression involves a release of HDAC1 and recruitment of CREBBP (By similarity). {ECO:0000250}.FUNCTION: Transcriptional activator which is required for calcium-dependent dendritic growth and branching in cortical neurons. Recruits CREB-binding protein (CREBBP) to nuclear bodies. Component of the CREST-BRG1 complex, a multiprotein complex that regulates promoter activation by orchestrating a calcium-dependent release of a repressor complex and a recruitment of an activator complex. In resting neurons, transcription of the c-FOS promoter is inhibited by BRG1-dependent recruitment of a phospho-RB1-HDAC1 repressor complex. Upon calcium influx, RB1 is dephosphorylated by calcineurin, which leads to release of the repressor complex. At the same time, there is increased recruitment of CREBBP to the promoter by a CREST-dependent mechanism, which leads to transcriptional activation. The CREST-BRG1 complex also binds to the NR2B promoter, and activity-dependent induction of NR2B expression involves a release of HDAC1 and recruitment of CREBBP (By similarity). {ECO:0000250}.

check buttonRetention 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

download page


* 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.
PartnerGeneHbpTbpENSTStrandBPexonTotalExonProtein feature loci*BPlociTotalLenProtein featureProtein feature note

- In-frame and not-retained protein feature among the 13 regional features.
PartnerGeneHbpTbpENSTStrandBPexonTotalExonProtein feature loci*BPlociTotalLenProtein featureProtein feature note


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Fusion Gene Sequence for EDIL3-ABAT


check button For in-frame fusion transcripts, we provide the fusion transcript sequences and fusion amino acid sequences. To have fusion amino acid sequence, we ran ORFfinder and chose the longest ORF among the all predicted ones.

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Fusion Gene PPI Analysis for EDIL3-ABAT


check button Go to ChiPPI (Chimeric Protein-Protein interactions) to see the chimeric PPI interaction in

ChiPPI page.


check button Protein-protein interactors with each fusion partner protein in wild-type (BIOGRID-3.4.160)
HgeneHgene's interactorsTgeneTgene's interactors


check button - Retained PPIs in in-frame fusion.
PartnerGeneHbpTbpENSTStrandBPexonTotalExonProtein feature loci*BPlociTotalLenStill interaction with


check button - Lost PPIs in in-frame fusion.
PartnerGeneHbpTbpENSTStrandBPexonTotalExonProtein feature loci*BPlociTotalLenInteraction lost with


check button - Retained PPIs, but lost function due to frame-shift fusion.
PartnerGeneHbpTbpENSTStrandBPexonTotalExonProtein feature loci*BPlociTotalLenInteraction lost with


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Related Drugs for EDIL3-ABAT


check button Drugs targeting genes involved in this fusion gene.
(DrugBank Version 5.1.8 2021-05-08)
PartnerGeneUniProtAccDrugBank IDDrug nameDrug activityDrug typeDrug status

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Related Diseases for EDIL3-ABAT


check button Diseases associated with fusion partners.
(DisGeNet 4.0)
PartnerGeneDisease IDDisease name# pubmedsSource
HgeneEDIL3C0029408Degenerative polyarthritis1CTD_human
HgeneEDIL3C0086743Osteoarthrosis Deformans1CTD_human
TgeneC0342708Gamma aminobutyric acid transaminase deficiency5CTD_human;GENOMICS_ENGLAND;ORPHANET;UNIPROT
TgeneC0004352Autistic Disorder1CTD_human
TgeneC0017168Gastroesophageal reflux disease1CTD_human
TgeneC0022333Jacksonian Seizure1CTD_human
TgeneC0023380Lethargy1CTD_human
TgeneC0023893Liver Cirrhosis, Experimental1CTD_human
TgeneC0026825Flaccid Muscle Tone1CTD_human
TgeneC0026827Muscle hypotonia1CTD_human
TgeneC0033922Psychomotor Disorders1CTD_human
TgeneC0034933Reflex, Abnormal1CTD_human
TgeneC0036572Seizures1CTD_human
TgeneC0149958Complex partial seizures1CTD_human
TgeneC0151572Reflex, Corneal, Decreased1CTD_human
TgeneC0151888Hyporeflexia1CTD_human
TgeneC0151889Hyperreflexia1CTD_human
TgeneC0234146Absent reflex1CTD_human
TgeneC0234533Generalized seizures1CTD_human
TgeneC0234535Clonic Seizures1CTD_human
TgeneC0234784Reflex, Gag, Absent1CTD_human
TgeneC0241772Reflex, Deep Tendon, Absent1CTD_human
TgeneC0270824Visual seizure1CTD_human
TgeneC0270844Tonic Seizures1CTD_human
TgeneC0270846Epileptic drop attack1CTD_human
TgeneC0277839Hoffman's Reflex1CTD_human
TgeneC0277850Reflex, Pendular1CTD_human
TgeneC0278211Reflex, Corneal, Absent1CTD_human
TgeneC0422850Seizures, Somatosensory1CTD_human
TgeneC0422852Seizures, Auditory1CTD_human
TgeneC0422853Olfactory seizure1CTD_human
TgeneC0422854Gustatory seizure1CTD_human
TgeneC0422855Vertiginous seizure1CTD_human
TgeneC0424230Motor retardation1CTD_human
TgeneC0424605Developmental delay (disorder)1GENOMICS_ENGLAND
TgeneC0427201Floppy Muscles1CTD_human
TgeneC0427202Muscle Tone Atonic1CTD_human
TgeneC0494475Tonic - clonic seizures1CTD_human
TgeneC0522345Reflex, Acoustic, Abnormal1CTD_human
TgeneC0557874Global developmental delay1GENOMICS_ENGLAND
TgeneC0558845Reflex, Ankle, Absent1CTD_human
TgeneC0558846Reflex, Triceps, Absent1CTD_human
TgeneC0558847Reflex, Biceps, Absent1CTD_human
TgeneC0576612Reflex, Anal, Absent1CTD_human
TgeneC0743002Abnormal Deep Tendon Reflex1CTD_human
TgeneC0751056Non-epileptic convulsion1CTD_human
TgeneC0751110Single Seizure1CTD_human
TgeneC0751123Atonic Absence Seizures1CTD_human
TgeneC0751330Unilateral Hypotonia1CTD_human
TgeneC0751456Developmental Psychomotor Disorders1CTD_human
TgeneC0751468Bulbocavernosus Reflex, Decreased1CTD_human
TgeneC0751469Bulbocavernousus Reflex Absent1CTD_human
TgeneC0751470Palmo-Mental Reflex1CTD_human
TgeneC0751471Reflex, Anal, Decreased1CTD_human
TgeneC0751472Reflex, Ankle, Abnormal1CTD_human
TgeneC0751473Reflex, Ankle, Decreased1CTD_human
TgeneC0751474Reflex, Biceps, Abnormal1CTD_human
TgeneC0751475Reflex, Biceps, Decreased1CTD_human
TgeneC0751476Reflex, Gag, Decreased1CTD_human
TgeneC0751477Reflex, Knee, Abnormal1CTD_human
TgeneC0751478Reflex, Knee, Decreased1CTD_human
TgeneC0751479Reflex, Moro, Asymmetric1CTD_human
TgeneC0751480Reflex, Triceps, Abnormal1CTD_human
TgeneC0751481Reflex, Triceps, Decreased1CTD_human
TgeneC0751494Convulsive Seizures1CTD_human
TgeneC0751495Seizures, Focal1CTD_human
TgeneC0751496Seizures, Sensory1CTD_human
TgeneC2267233Neonatal Hypotonia1CTD_human
TgeneC3495874Nonepileptic Seizures1CTD_human
TgeneC4048158Convulsions1CTD_human
TgeneC4316903Absence Seizures1CTD_human
TgeneC4317109Epileptic Seizures1CTD_human
TgeneC4317123Myoclonic Seizures1CTD_human
TgeneC4505436Generalized Absence Seizures1CTD_human