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Center for Computational Systems Medicine
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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:RUSC2-ABAT (FusionGDB2 ID:78234)

Fusion Gene Summary for RUSC2-ABAT

check button Fusion gene summary
Fusion gene informationFusion gene name: RUSC2-ABAT
Fusion gene ID: 78234
HgeneTgene
Gene symbol

RUSC2

ABAT

Gene ID

9853

18

Gene nameRUN and SH3 domain containing 24-aminobutyrate aminotransferase
SynonymsIporin|MRT61GABA-AT|GABAT|NPD009
Cytomap

9p13.3

16p13.2

Type of geneprotein-codingprotein-coding
DescriptioniporinRUN and SH3 domain-containing protein 2interacting protein of Rab14-aminobutyrate aminotransferase, mitochondrial(S)-3-amino-2-methylpropionate transaminase4-aminobutyrate transaminaseGABA aminotransferaseGABA transaminaseGABA transferasegamma-amino-N-butyrate transaminasegamma-aminobutyrate aminotransferase
Modification date2020032920200313
UniProtAcc.

P80404

Ensembl transtripts involved in fusion geneENST00000455600, ENST00000468041, 
ENST00000268251, ENST00000396600, 
ENST00000563215, ENST00000567812, 
ENST00000425191, ENST00000569156, 
Fusion gene scores* DoF score11 X 7 X 6=4627 X 9 X 4=252
# samples 129
** MAII scorelog2(12/462*10)=-1.94485844580754
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: RUSC2 [Title/Abstract] AND ABAT [Title/Abstract] AND fusion [Title/Abstract]

Most frequent breakpointRUSC2(35490169)-ABAT(8857926), # samples:3
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 buttonFusion gene breakpoints across RUSC2 (5'-gene)
* Click on the image to open the UCSC genome browser with custom track showing this image in a new window.

check buttonFusion gene breakpoints across ABAT (3'-gene)
* Click on the image to open the UCSC genome browser with custom track showing this image in a new window.

check button Fusion gene information from two resources (ChiTars 5.0 and ChimerDB 4.0)
* 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
ChimerDB4LGGTCGA-CS-5397-01ARUSC2chr9

35490169

+ABATchr16

8857926

+
ChimerDB4LGGTCGA-CS-5397RUSC2chr9

35490169

+ABATchr16

8857925

+
ChimerDB4LGGTCGA-CS-5397RUSC2chr9

35490169

+ABATchr16

8857926

+
ChimerDB4LGGTCGA-CS-5397-01ARUSC2chr9

35490169

-ABATchr16

8857926

+


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Fusion Gene ORF analysis for RUSC2-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
intron-3CDSENST00000455600ENST00000268251RUSC2chr9

35490169

+ABATchr16

8857926

+
intron-3CDSENST00000455600ENST00000396600RUSC2chr9

35490169

+ABATchr16

8857926

+
intron-intronENST00000455600ENST00000563215RUSC2chr9

35490169

+ABATchr16

8857926

+
intron-intronENST00000455600ENST00000567812RUSC2chr9

35490169

+ABATchr16

8857926

+
intron-intronENST00000455600ENST00000425191RUSC2chr9

35490169

+ABATchr16

8857926

+
intron-intronENST00000455600ENST00000569156RUSC2chr9

35490169

+ABATchr16

8857926

+
intron-3CDSENST00000468041ENST00000268251RUSC2chr9

35490169

+ABATchr16

8857926

+
intron-3CDSENST00000468041ENST00000396600RUSC2chr9

35490169

+ABATchr16

8857926

+
intron-intronENST00000468041ENST00000563215RUSC2chr9

35490169

+ABATchr16

8857926

+
intron-intronENST00000468041ENST00000567812RUSC2chr9

35490169

+ABATchr16

8857926

+
intron-intronENST00000468041ENST00000425191RUSC2chr9

35490169

+ABATchr16

8857926

+
intron-intronENST00000468041ENST00000569156RUSC2chr9

35490169

+ABATchr16

8857926

+
intron-3CDSENST00000455600ENST00000268251RUSC2chr9

35490169

+ABATchr16

8857925

+
intron-3CDSENST00000455600ENST00000396600RUSC2chr9

35490169

+ABATchr16

8857925

+
intron-intronENST00000455600ENST00000563215RUSC2chr9

35490169

+ABATchr16

8857925

+
intron-intronENST00000455600ENST00000567812RUSC2chr9

35490169

+ABATchr16

8857925

+
intron-intronENST00000455600ENST00000425191RUSC2chr9

35490169

+ABATchr16

8857925

+
intron-intronENST00000455600ENST00000569156RUSC2chr9

35490169

+ABATchr16

8857925

+
intron-3CDSENST00000468041ENST00000268251RUSC2chr9

35490169

+ABATchr16

8857925

+
intron-3CDSENST00000468041ENST00000396600RUSC2chr9

35490169

+ABATchr16

8857925

+
intron-intronENST00000468041ENST00000563215RUSC2chr9

35490169

+ABATchr16

8857925

+
intron-intronENST00000468041ENST00000567812RUSC2chr9

35490169

+ABATchr16

8857925

+
intron-intronENST00000468041ENST00000425191RUSC2chr9

35490169

+ABATchr16

8857925

+
intron-intronENST00000468041ENST00000569156RUSC2chr9

35490169

+ABATchr16

8857925

+

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 RUSC2-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)

check buttonDistribution of 44 human genomic features loci across 20kb length fusion breakpoint regions. We integrated a total of 44 different types of human genomic feature loci information across five big categories including virus integration sites, repeats, structural variants, chromatin states, and gene expression regulation. More details are in help page.

check buttonDistribution of 44 human genomic features loci across 20kb length fusion breakpoint regions that are ovelapped with the top 1% feature importance score regions. More details are in help page.

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Fusion Protein Features for RUSC2-ABAT


check button Go to

FGviewer for the breakpoints of :-:

.
- FGviewer provides the online visualization of the retention search of the protein functional features across DNA, RNA, protein, and pathological levels.
FGviewer

check buttonMain function of each fusion partner protein. (from UniProt)
HgeneTgene
.ABAT

P80404

FUNCTION: Might normally function as a transcriptional repressor. EWS-fusion-proteins (EFPS) may play a role in the tumorigenic process. They may disturb gene expression by mimicking, or interfering with the normal function of CTD-POLII within the transcription initiation complex. They may also contribute to an aberrant activation of the fusion protein target genes.FUNCTION: Catalyzes the conversion of gamma-aminobutyrate and L-beta-aminoisobutyrate to succinate semialdehyde and methylmalonate semialdehyde, respectively. Can also convert delta-aminovalerate and beta-alanine.

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 RUSC2-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 RUSC2-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 RUSC2-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
TgeneABATP80404DB00780PhenelzineInhibitorSmall moleculeApproved
TgeneABATP80404DB00780PhenelzineInhibitorSmall moleculeApproved
TgeneABATP80404DB01080VigabatrinInhibitorSmall moleculeApproved
TgeneABATP80404DB01080VigabatrinInhibitorSmall moleculeApproved
TgeneABATP80404DB00114Pyridoxal phosphateInhibitorSmall moleculeApproved|Investigational|Nutraceutical
TgeneABATP80404DB00114Pyridoxal phosphateInhibitorSmall moleculeApproved|Investigational|Nutraceutical
TgeneABATP80404DB00119Pyruvic acidInhibitorSmall moleculeApproved|Investigational|Nutraceutical
TgeneABATP80404DB00119Pyruvic acidInhibitorSmall moleculeApproved|Investigational|Nutraceutical
TgeneABATP80404DB00142Glutamic acidSmall moleculeApproved|Nutraceutical
TgeneABATP80404DB00142Glutamic acidSmall moleculeApproved|Nutraceutical

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Related Diseases for RUSC2-ABAT


check button Diseases associated with fusion partners.
(DisGeNet 4.0)
PartnerGeneDisease IDDisease name# pubmedsSource
TgeneABATC0342708Gamma aminobutyric acid transaminase deficiency5CTD_human;GENOMICS_ENGLAND;ORPHANET;UNIPROT
TgeneABATC0004352Autistic Disorder1CTD_human
TgeneABATC0017168Gastroesophageal reflux disease1CTD_human
TgeneABATC0022333Jacksonian Seizure1CTD_human
TgeneABATC0023380Lethargy1CTD_human
TgeneABATC0023893Liver Cirrhosis, Experimental1CTD_human
TgeneABATC0026825Flaccid Muscle Tone1CTD_human
TgeneABATC0026827Muscle hypotonia1CTD_human
TgeneABATC0033922Psychomotor Disorders1CTD_human
TgeneABATC0034933Reflex, Abnormal1CTD_human
TgeneABATC0036572Seizures1CTD_human
TgeneABATC0149958Complex partial seizures1CTD_human
TgeneABATC0151572Reflex, Corneal, Decreased1CTD_human
TgeneABATC0151888Hyporeflexia1CTD_human
TgeneABATC0151889Hyperreflexia1CTD_human
TgeneABATC0234146Absent reflex1CTD_human
TgeneABATC0234533Generalized seizures1CTD_human
TgeneABATC0234535Clonic Seizures1CTD_human
TgeneABATC0234784Reflex, Gag, Absent1CTD_human
TgeneABATC0241772Reflex, Deep Tendon, Absent1CTD_human
TgeneABATC0270824Visual seizure1CTD_human
TgeneABATC0270844Tonic Seizures1CTD_human
TgeneABATC0270846Epileptic drop attack1CTD_human
TgeneABATC0277839Hoffman's Reflex1CTD_human
TgeneABATC0277850Reflex, Pendular1CTD_human
TgeneABATC0278211Reflex, Corneal, Absent1CTD_human
TgeneABATC0422850Seizures, Somatosensory1CTD_human
TgeneABATC0422852Seizures, Auditory1CTD_human
TgeneABATC0422853Olfactory seizure1CTD_human
TgeneABATC0422854Gustatory seizure1CTD_human
TgeneABATC0422855Vertiginous seizure1CTD_human
TgeneABATC0424230Motor retardation1CTD_human
TgeneABATC0424605Developmental delay (disorder)1GENOMICS_ENGLAND
TgeneABATC0427201Floppy Muscles1CTD_human
TgeneABATC0427202Muscle Tone Atonic1CTD_human
TgeneABATC0494475Tonic - clonic seizures1CTD_human
TgeneABATC0522345Reflex, Acoustic, Abnormal1CTD_human
TgeneABATC0557874Global developmental delay1GENOMICS_ENGLAND
TgeneABATC0558845Reflex, Ankle, Absent1CTD_human
TgeneABATC0558846Reflex, Triceps, Absent1CTD_human
TgeneABATC0558847Reflex, Biceps, Absent1CTD_human
TgeneABATC0576612Reflex, Anal, Absent1CTD_human
TgeneABATC0743002Abnormal Deep Tendon Reflex1CTD_human
TgeneABATC0751056Non-epileptic convulsion1CTD_human
TgeneABATC0751110Single Seizure1CTD_human
TgeneABATC0751123Atonic Absence Seizures1CTD_human
TgeneABATC0751330Unilateral Hypotonia1CTD_human
TgeneABATC0751456Developmental Psychomotor Disorders1CTD_human
TgeneABATC0751468Bulbocavernosus Reflex, Decreased1CTD_human
TgeneABATC0751469Bulbocavernousus Reflex Absent1CTD_human
TgeneABATC0751470Palmo-Mental Reflex1CTD_human
TgeneABATC0751471Reflex, Anal, Decreased1CTD_human
TgeneABATC0751472Reflex, Ankle, Abnormal1CTD_human
TgeneABATC0751473Reflex, Ankle, Decreased1CTD_human
TgeneABATC0751474Reflex, Biceps, Abnormal1CTD_human
TgeneABATC0751475Reflex, Biceps, Decreased1CTD_human
TgeneABATC0751476Reflex, Gag, Decreased1CTD_human
TgeneABATC0751477Reflex, Knee, Abnormal1CTD_human
TgeneABATC0751478Reflex, Knee, Decreased1CTD_human
TgeneABATC0751479Reflex, Moro, Asymmetric1CTD_human
TgeneABATC0751480Reflex, Triceps, Abnormal1CTD_human
TgeneABATC0751481Reflex, Triceps, Decreased1CTD_human
TgeneABATC0751494Convulsive Seizures1CTD_human
TgeneABATC0751495Seizures, Focal1CTD_human
TgeneABATC0751496Seizures, Sensory1CTD_human
TgeneABATC2267233Neonatal Hypotonia1CTD_human
TgeneABATC3495874Nonepileptic Seizures1CTD_human
TgeneABATC4048158Convulsions1CTD_human
TgeneABATC4316903Absence Seizures1CTD_human
TgeneABATC4317109Epileptic Seizures1CTD_human
TgeneABATC4317123Myoclonic Seizures1CTD_human
TgeneABATC4505436Generalized Absence Seizures1CTD_human