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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:ABAT-KIAA0430 (FusionGDB2 ID:HG18TG9665)

Fusion Gene Summary for ABAT-KIAA0430

check button Fusion gene summary
Fusion gene informationFusion gene name: ABAT-KIAA0430
Fusion gene ID: hg18tg9665
HgeneTgene
Gene symbol

ABAT

KIAA0430

Gene ID

18

9665

Gene name4-aminobutyrate aminotransferasemeiosis regulator and mRNA stability factor 1
SynonymsGABA-AT|GABAT|NPD009KIAA0430|LKAP|LMKB|PPP1R34
Cytomap('ABAT')('KIAA0430')

16p13.2

16p13.11

Type of geneprotein-codingprotein-coding
Description4-aminobutyrate aminotransferase, mitochondrial(S)-3-amino-2-methylpropionate transaminase4-aminobutyrate transaminaseGABA aminotransferaseGABA transaminaseGABA transferasegamma-amino-N-butyrate transaminasegamma-aminobutyrate aminotransferasemeiosis regulator and mRNA stability factor 1limkain-b1meiosis arrest female 1meiosis arrest female protein 1protein phosphatase 1, regulatory subunit 34
Modification date2020031320200313
UniProtAcc..
Ensembl transtripts involved in fusion geneENST00000268251, ENST00000396600, 
ENST00000425191, ENST00000563215, 
ENST00000567812, ENST00000569156, 
Fusion gene scores* DoF score4 X 3 X 3=362 X 2 X 2=8
# samples 52
** MAII scorelog2(5/36*10)=0.473931188332412
effective Gene in Pan-Cancer Fusion Genes (eGinPCFGs).
DoF>8 and MAII>0		log2(2/8*10)=1.32192809488736
Context

PubMed: ABAT [Title/Abstract] AND KIAA0430 [Title/Abstract] AND fusion [Title/Abstract]

Most frequent breakpointABAT(8768568)-KIAA0430(15706634), # samples:2
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
HgeneABAT

GO:0009448

gamma-aminobutyric acid metabolic process

15528998

TgeneKIAA0430

GO:0010923

negative regulation of phosphatase activity

19389623



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
ChimerDB4LGGTCGA-CS-5397-01AABATchr16

8768568

-KIAA0430chr16

15706634

-
ChimerDB4LGGTCGA-CS-5397-01AABATchr16

8768568

+KIAA0430chr16

15706634

-


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Fusion Gene ORF analysis for ABAT-KIAA0430

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
5UTR-3CDSENST00000268251ENST00000344181ABATchr16

8768568

+KIAA0430chr16

15706634

-
5UTR-3CDSENST00000268251ENST00000396368ABATchr16

8768568

+KIAA0430chr16

15706634

-
5UTR-3CDSENST00000268251ENST00000540441ABATchr16

8768568

+KIAA0430chr16

15706634

-
5UTR-3CDSENST00000268251ENST00000548025ABATchr16

8768568

+KIAA0430chr16

15706634

-
5UTR-3CDSENST00000268251ENST00000551742ABATchr16

8768568

+KIAA0430chr16

15706634

-
5UTR-3CDSENST00000268251ENST00000602337ABATchr16

8768568

+KIAA0430chr16

15706634

-
5UTR-intronENST00000268251ENST00000547936ABATchr16

8768568

+KIAA0430chr16

15706634

-
intron-3CDSENST00000396600ENST00000344181ABATchr16

8768568

+KIAA0430chr16

15706634

-
intron-3CDSENST00000396600ENST00000396368ABATchr16

8768568

+KIAA0430chr16

15706634

-
intron-3CDSENST00000396600ENST00000540441ABATchr16

8768568

+KIAA0430chr16

15706634

-
intron-3CDSENST00000396600ENST00000548025ABATchr16

8768568

+KIAA0430chr16

15706634

-
intron-3CDSENST00000396600ENST00000551742ABATchr16

8768568

+KIAA0430chr16

15706634

-
intron-3CDSENST00000396600ENST00000602337ABATchr16

8768568

+KIAA0430chr16

15706634

-
intron-3CDSENST00000425191ENST00000344181ABATchr16

8768568

+KIAA0430chr16

15706634

-
intron-3CDSENST00000425191ENST00000396368ABATchr16

8768568

+KIAA0430chr16

15706634

-
intron-3CDSENST00000425191ENST00000540441ABATchr16

8768568

+KIAA0430chr16

15706634

-
intron-3CDSENST00000425191ENST00000548025ABATchr16

8768568

+KIAA0430chr16

15706634

-
intron-3CDSENST00000425191ENST00000551742ABATchr16

8768568

+KIAA0430chr16

15706634

-
intron-3CDSENST00000425191ENST00000602337ABATchr16

8768568

+KIAA0430chr16

15706634

-
intron-3CDSENST00000563215ENST00000344181ABATchr16

8768568

+KIAA0430chr16

15706634

-
intron-3CDSENST00000563215ENST00000396368ABATchr16

8768568

+KIAA0430chr16

15706634

-
intron-3CDSENST00000563215ENST00000540441ABATchr16

8768568

+KIAA0430chr16

15706634

-
intron-3CDSENST00000563215ENST00000548025ABATchr16

8768568

+KIAA0430chr16

15706634

-
intron-3CDSENST00000563215ENST00000551742ABATchr16

8768568

+KIAA0430chr16

15706634

-
intron-3CDSENST00000563215ENST00000602337ABATchr16

8768568

+KIAA0430chr16

15706634

-
intron-3CDSENST00000567812ENST00000344181ABATchr16

8768568

+KIAA0430chr16

15706634

-
intron-3CDSENST00000567812ENST00000396368ABATchr16

8768568

+KIAA0430chr16

15706634

-
intron-3CDSENST00000567812ENST00000540441ABATchr16

8768568

+KIAA0430chr16

15706634

-
intron-3CDSENST00000567812ENST00000548025ABATchr16

8768568

+KIAA0430chr16

15706634

-
intron-3CDSENST00000567812ENST00000551742ABATchr16

8768568

+KIAA0430chr16

15706634

-
intron-3CDSENST00000567812ENST00000602337ABATchr16

8768568

+KIAA0430chr16

15706634

-
intron-3CDSENST00000569156ENST00000344181ABATchr16

8768568

+KIAA0430chr16

15706634

-
intron-3CDSENST00000569156ENST00000396368ABATchr16

8768568

+KIAA0430chr16

15706634

-
intron-3CDSENST00000569156ENST00000540441ABATchr16

8768568

+KIAA0430chr16

15706634

-
intron-3CDSENST00000569156ENST00000548025ABATchr16

8768568

+KIAA0430chr16

15706634

-
intron-3CDSENST00000569156ENST00000551742ABATchr16

8768568

+KIAA0430chr16

15706634

-
intron-3CDSENST00000569156ENST00000602337ABATchr16

8768568

+KIAA0430chr16

15706634

-
intron-intronENST00000396600ENST00000547936ABATchr16

8768568

+KIAA0430chr16

15706634

-
intron-intronENST00000425191ENST00000547936ABATchr16

8768568

+KIAA0430chr16

15706634

-
intron-intronENST00000563215ENST00000547936ABATchr16

8768568

+KIAA0430chr16

15706634

-
intron-intronENST00000567812ENST00000547936ABATchr16

8768568

+KIAA0430chr16

15706634

-
intron-intronENST00000569156ENST00000547936ABATchr16

8768568

+KIAA0430chr16

15706634

-

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 ABAT-KIAA0430


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 ABAT-KIAA0430


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/:8768568/:15706634)
- 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 ABAT-KIAA0430


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 ABAT-KIAA0430


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 ABAT-KIAA0430


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 ABAT-KIAA0430


check button Diseases associated with fusion partners.
(DisGeNet 4.0)
PartnerGeneDisease IDDisease name# pubmedsSource
HgeneABATC0342708Gamma aminobutyric acid transaminase deficiency5CTD_human;GENOMICS_ENGLAND;ORPHANET;UNIPROT
HgeneABATC0004352Autistic Disorder1CTD_human
HgeneABATC0017168Gastroesophageal reflux disease1CTD_human
HgeneABATC0022333Jacksonian Seizure1CTD_human
HgeneABATC0023380Lethargy1CTD_human
HgeneABATC0023893Liver Cirrhosis, Experimental1CTD_human
HgeneABATC0026825Flaccid Muscle Tone1CTD_human
HgeneABATC0026827Muscle hypotonia1CTD_human
HgeneABATC0033922Psychomotor Disorders1CTD_human
HgeneABATC0034933Reflex, Abnormal1CTD_human
HgeneABATC0036572Seizures1CTD_human
HgeneABATC0149958Complex partial seizures1CTD_human
HgeneABATC0151572Reflex, Corneal, Decreased1CTD_human
HgeneABATC0151888Hyporeflexia1CTD_human
HgeneABATC0151889Hyperreflexia1CTD_human
HgeneABATC0234146Absent reflex1CTD_human
HgeneABATC0234533Generalized seizures1CTD_human
HgeneABATC0234535Clonic Seizures1CTD_human
HgeneABATC0234784Reflex, Gag, Absent1CTD_human
HgeneABATC0241772Reflex, Deep Tendon, Absent1CTD_human
HgeneABATC0270824Visual seizure1CTD_human
HgeneABATC0270844Tonic Seizures1CTD_human
HgeneABATC0270846Epileptic drop attack1CTD_human
HgeneABATC0277839Hoffman's Reflex1CTD_human
HgeneABATC0277850Reflex, Pendular1CTD_human
HgeneABATC0278211Reflex, Corneal, Absent1CTD_human
HgeneABATC0422850Seizures, Somatosensory1CTD_human
HgeneABATC0422852Seizures, Auditory1CTD_human
HgeneABATC0422853Olfactory seizure1CTD_human
HgeneABATC0422854Gustatory seizure1CTD_human
HgeneABATC0422855Vertiginous seizure1CTD_human
HgeneABATC0424230Motor retardation1CTD_human
HgeneABATC0424605Developmental delay (disorder)1GENOMICS_ENGLAND
HgeneABATC0427201Floppy Muscles1CTD_human
HgeneABATC0427202Muscle Tone Atonic1CTD_human
HgeneABATC0494475Tonic - clonic seizures1CTD_human
HgeneABATC0522345Reflex, Acoustic, Abnormal1CTD_human
HgeneABATC0557874Global developmental delay1GENOMICS_ENGLAND
HgeneABATC0558845Reflex, Ankle, Absent1CTD_human
HgeneABATC0558846Reflex, Triceps, Absent1CTD_human
HgeneABATC0558847Reflex, Biceps, Absent1CTD_human
HgeneABATC0576612Reflex, Anal, Absent1CTD_human
HgeneABATC0743002Abnormal Deep Tendon Reflex1CTD_human
HgeneABATC0751056Non-epileptic convulsion1CTD_human
HgeneABATC0751110Single Seizure1CTD_human
HgeneABATC0751123Atonic Absence Seizures1CTD_human
HgeneABATC0751330Unilateral Hypotonia1CTD_human
HgeneABATC0751456Developmental Psychomotor Disorders1CTD_human
HgeneABATC0751468Bulbocavernosus Reflex, Decreased1CTD_human
HgeneABATC0751469Bulbocavernousus Reflex Absent1CTD_human
HgeneABATC0751470Palmo-Mental Reflex1CTD_human
HgeneABATC0751471Reflex, Anal, Decreased1CTD_human
HgeneABATC0751472Reflex, Ankle, Abnormal1CTD_human
HgeneABATC0751473Reflex, Ankle, Decreased1CTD_human
HgeneABATC0751474Reflex, Biceps, Abnormal1CTD_human
HgeneABATC0751475Reflex, Biceps, Decreased1CTD_human
HgeneABATC0751476Reflex, Gag, Decreased1CTD_human
HgeneABATC0751477Reflex, Knee, Abnormal1CTD_human
HgeneABATC0751478Reflex, Knee, Decreased1CTD_human
HgeneABATC0751479Reflex, Moro, Asymmetric1CTD_human
HgeneABATC0751480Reflex, Triceps, Abnormal1CTD_human
HgeneABATC0751481Reflex, Triceps, Decreased1CTD_human
HgeneABATC0751494Convulsive Seizures1CTD_human
HgeneABATC0751495Seizures, Focal1CTD_human
HgeneABATC0751496Seizures, Sensory1CTD_human
HgeneABATC2267233Neonatal Hypotonia1CTD_human
HgeneABATC3495874Nonepileptic Seizures1CTD_human
HgeneABATC4048158Convulsions1CTD_human
HgeneABATC4316903Absence Seizures1CTD_human
HgeneABATC4317109Epileptic Seizures1CTD_human
HgeneABATC4317123Myoclonic Seizures1CTD_human
HgeneABATC4505436Generalized Absence Seizures1CTD_human