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Center for Computational Systems Medicine
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FusionGeneSummary

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FusionProtFeature

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FusionGeneSequence

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FusionGenePPI

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RelatedDrugs

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RelatedDiseases

Fusion gene ID: 80

FusionGeneSummary for ABAT_C16orf62

check button Fusion gene summary
Fusion gene informationFusion gene name: ABAT_C16orf62
Fusion gene ID: 80
HgeneTgene
Gene symbol

ABAT

C16orf62

Gene ID

18

Gene name4-aminobutyrate aminotransferase
SynonymsGABA-AT|GABAT|NPD009
Cytomap

16p13.2

Type of geneprotein-coding
Description4-aminobutyrate aminotransferase, mitochondrial(S)-3-amino-2-methylpropionate transaminase4-aminobutyrate transaminaseGABA aminotransferaseGABA transaminaseGABA transferasegamma-amino-N-butyrate transaminase
Modification date20180523
UniProtAcc

P80404

Q7Z3J2

Ensembl transtripts involved in fusion geneENST00000268251, ENST00000396600, 
ENST00000563215, ENST00000567812, 
ENST00000425191, ENST00000569156, 
ENST00000438132, ENST00000542263, 
ENST00000417362, ENST00000251143, 
ENST00000543152, ENST00000448695, 
ENST00000544275, ENST00000538853, 
Fusion gene scores* DoF score5 X 4 X 3=6010 X 8 X 7=560
# samples 514
** MAII scorelog2(5/60*10)=-0.263034405833794
possibly effective Gene in Pan-Cancer Fusion Genes (peGinPCFGs).
DoF>8 and MAII<0
log2(14/560*10)=-2
possibly effective Gene in Pan-Cancer Fusion Genes (peGinPCFGs).
DoF>8 and MAII<0
Context

PubMed: ABAT [Title/Abstract] AND C16orf62 [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)

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

check button 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 typeSourceCancer typeSampleHgeneHchrHbpHstrandTgeneTchrTbpTstrand
TCGARVBRCATCGA-AR-A0TX-01AABATchr16

8768568

+C16orf62chr16

19663298

+
* LD: Li Ding group's fusion gene list
  RV: Roel Verhaak group's fusion gene list
  ChiTaRs fusion database

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-3CDSENST00000268251ENST00000438132ABATchr16

8768568

+C16orf62chr16

19663298

+
5UTR-3CDSENST00000268251ENST00000542263ABATchr16

8768568

+C16orf62chr16

19663298

+
5UTR-3CDSENST00000268251ENST00000417362ABATchr16

8768568

+C16orf62chr16

19663298

+
5UTR-3CDSENST00000268251ENST00000251143ABATchr16

8768568

+C16orf62chr16

19663298

+
5UTR-3CDSENST00000268251ENST00000543152ABATchr16

8768568

+C16orf62chr16

19663298

+
5UTR-3CDSENST00000268251ENST00000448695ABATchr16

8768568

+C16orf62chr16

19663298

+
5UTR-3UTRENST00000268251ENST00000544275ABATchr16

8768568

+C16orf62chr16

19663298

+
5UTR-intronENST00000268251ENST00000538853ABATchr16

8768568

+C16orf62chr16

19663298

+
intron-3CDSENST00000396600ENST00000438132ABATchr16

8768568

+C16orf62chr16

19663298

+
intron-3CDSENST00000396600ENST00000542263ABATchr16

8768568

+C16orf62chr16

19663298

+
intron-3CDSENST00000396600ENST00000417362ABATchr16

8768568

+C16orf62chr16

19663298

+
intron-3CDSENST00000396600ENST00000251143ABATchr16

8768568

+C16orf62chr16

19663298

+
intron-3CDSENST00000396600ENST00000543152ABATchr16

8768568

+C16orf62chr16

19663298

+
intron-3CDSENST00000396600ENST00000448695ABATchr16

8768568

+C16orf62chr16

19663298

+
intron-3UTRENST00000396600ENST00000544275ABATchr16

8768568

+C16orf62chr16

19663298

+
intron-intronENST00000396600ENST00000538853ABATchr16

8768568

+C16orf62chr16

19663298

+
intron-3CDSENST00000563215ENST00000438132ABATchr16

8768568

+C16orf62chr16

19663298

+
intron-3CDSENST00000563215ENST00000542263ABATchr16

8768568

+C16orf62chr16

19663298

+
intron-3CDSENST00000563215ENST00000417362ABATchr16

8768568

+C16orf62chr16

19663298

+
intron-3CDSENST00000563215ENST00000251143ABATchr16

8768568

+C16orf62chr16

19663298

+
intron-3CDSENST00000563215ENST00000543152ABATchr16

8768568

+C16orf62chr16

19663298

+
intron-3CDSENST00000563215ENST00000448695ABATchr16

8768568

+C16orf62chr16

19663298

+
intron-3UTRENST00000563215ENST00000544275ABATchr16

8768568

+C16orf62chr16

19663298

+
intron-intronENST00000563215ENST00000538853ABATchr16

8768568

+C16orf62chr16

19663298

+
intron-3CDSENST00000567812ENST00000438132ABATchr16

8768568

+C16orf62chr16

19663298

+
intron-3CDSENST00000567812ENST00000542263ABATchr16

8768568

+C16orf62chr16

19663298

+
intron-3CDSENST00000567812ENST00000417362ABATchr16

8768568

+C16orf62chr16

19663298

+
intron-3CDSENST00000567812ENST00000251143ABATchr16

8768568

+C16orf62chr16

19663298

+
intron-3CDSENST00000567812ENST00000543152ABATchr16

8768568

+C16orf62chr16

19663298

+
intron-3CDSENST00000567812ENST00000448695ABATchr16

8768568

+C16orf62chr16

19663298

+
intron-3UTRENST00000567812ENST00000544275ABATchr16

8768568

+C16orf62chr16

19663298

+
intron-intronENST00000567812ENST00000538853ABATchr16

8768568

+C16orf62chr16

19663298

+
intron-3CDSENST00000425191ENST00000438132ABATchr16

8768568

+C16orf62chr16

19663298

+
intron-3CDSENST00000425191ENST00000542263ABATchr16

8768568

+C16orf62chr16

19663298

+
intron-3CDSENST00000425191ENST00000417362ABATchr16

8768568

+C16orf62chr16

19663298

+
intron-3CDSENST00000425191ENST00000251143ABATchr16

8768568

+C16orf62chr16

19663298

+
intron-3CDSENST00000425191ENST00000543152ABATchr16

8768568

+C16orf62chr16

19663298

+
intron-3CDSENST00000425191ENST00000448695ABATchr16

8768568

+C16orf62chr16

19663298

+
intron-3UTRENST00000425191ENST00000544275ABATchr16

8768568

+C16orf62chr16

19663298

+
intron-intronENST00000425191ENST00000538853ABATchr16

8768568

+C16orf62chr16

19663298

+
intron-3CDSENST00000569156ENST00000438132ABATchr16

8768568

+C16orf62chr16

19663298

+
intron-3CDSENST00000569156ENST00000542263ABATchr16

8768568

+C16orf62chr16

19663298

+
intron-3CDSENST00000569156ENST00000417362ABATchr16

8768568

+C16orf62chr16

19663298

+
intron-3CDSENST00000569156ENST00000251143ABATchr16

8768568

+C16orf62chr16

19663298

+
intron-3CDSENST00000569156ENST00000543152ABATchr16

8768568

+C16orf62chr16

19663298

+
intron-3CDSENST00000569156ENST00000448695ABATchr16

8768568

+C16orf62chr16

19663298

+
intron-3UTRENST00000569156ENST00000544275ABATchr16

8768568

+C16orf62chr16

19663298

+
intron-intronENST00000569156ENST00000538853ABATchr16

8768568

+C16orf62chr16

19663298

+

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FusionProtFeatures for ABAT_C16orf62


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

P80404

C16orf62

Q7Z3J2

Catalyzes the conversion of gamma-aminobutyrate and L-beta-aminoisobutyrate to succinate semialdehyde and methylmalonatesemialdehyde, respectively. Can also convert delta-aminovalerateand 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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FusionGeneSequence for ABAT_C16orf62


check button 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 ABAT_C16orf62


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
ABATBAG3, LGR4, SEC22C, ALDH7A1, CFL1, CFL2, DSTN, GDA, LDHA, LDHAL6B, PDXK, PRPF8, SOD2, ADSL, AKR1B1, CBS, ENO1, ESD, FAH, FAHD1, GPI, HSD17B14, HSPE1, PDCD6IP, PGM1, PGM2, QDPR, RAD23B, SORD, C1orf228, ZSCAN29, ASGR1C16orf62CCDC22, CCDC93, COMMD1, BSG, COMMD3, COMMD4, DCUN1D1, TRIM25, NTRK1, COMMD6, VPS29, COMMD2, COMMD10, COMMD8, FAM45A, HDAC11


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


Top

RelatedDrugs for ABAT_C16orf62


check button Drugs targeting genes involved in this fusion gene.
(DrugBank Version 5.1.0 2018-04-02)
PartnerGeneUniProtAccDrugBank IDDrug nameDrug activityDrug typeDrug status
HgeneABATP80404DB00780Phenelzine4-aminobutyrate aminotransferase, mitochondrialsmall moleculeapproved
HgeneABATP80404DB01080Vigabatrin4-aminobutyrate aminotransferase, mitochondrialsmall moleculeapproved
HgeneABATP80404DB00313Valproic Acid4-aminobutyrate aminotransferase, mitochondrialsmall moleculeapproved|investigational
HgeneABATP80404DB00114Pyridoxal Phosphate4-aminobutyrate aminotransferase, mitochondrialsmall moleculeapproved|investigational|nutraceutical
HgeneABATP80404DB00142Glutamic Acid4-aminobutyrate aminotransferase, mitochondrialsmall moleculeapproved|nutraceutical

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RelatedDiseases for ABAT_C16orf62


check button Diseases associated with fusion partners.
(DisGeNet 4.0)
PartnerGeneDisease IDDisease name# pubmedsSource
HgeneABATC0004352Autistic Disorder1CTD_human
HgeneABATC0017168Gastroesophageal reflux disease1CTD_human
HgeneABATC0023380Lethargy1CTD_human;HPO
HgeneABATC0023893Liver Cirrhosis, Experimental1CTD_human
HgeneABATC0026827Muscle hypotonia1CTD_human
HgeneABATC0033922Psychomotor Disorders1CTD_human
HgeneABATC0034933Reflex, Abnormal1CTD_human
HgeneABATC0036572Seizures1CTD_human;HPO
HgeneABATC0342708Gamma aminobutyric acid transaminase deficiency1CTD_human;ORPHANET;UNIPROT