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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: 82

FusionGeneSummary for ABAT_PSMD12

check button Fusion gene summary
Fusion gene informationFusion gene name: ABAT_PSMD12
Fusion gene ID: 82
HgeneTgene
Gene symbol

ABAT

PSMD12

Gene ID

18

5718

Gene name4-aminobutyrate aminotransferaseproteasome 26S subunit, non-ATPase 12
SynonymsGABA-AT|GABAT|NPD009Rpn5|STISS|p55
Cytomap

16p13.2

17q24.2

Type of geneprotein-codingprotein-coding
Description4-aminobutyrate aminotransferase, mitochondrial(S)-3-amino-2-methylpropionate transaminase4-aminobutyrate transaminaseGABA aminotransferaseGABA transaminaseGABA transferasegamma-amino-N-butyrate transaminase26S proteasome non-ATPase regulatory subunit 1226S proteasome regulatory subunit RPN526S proteasome regulatory subunit p55proteasome (prosome, macropain) 26S subunit, non-ATPase, 12
Modification date2018052320180523
UniProtAcc

P80404

O00232

Ensembl transtripts involved in fusion geneENST00000268251, ENST00000396600, 
ENST00000563215, ENST00000567812, 
ENST00000425191, ENST00000569156, 
ENST00000356126, ENST00000357146, 
ENST00000581618, 
Fusion gene scores* DoF score5 X 4 X 3=606 X 6 X 3=108
# samples 56
** MAII scorelog2(5/60*10)=-0.263034405833794
possibly effective Gene in Pan-Cancer Fusion Genes (peGinPCFGs).
DoF>8 and MAII<0
log2(6/108*10)=-0.84799690655495
possibly effective Gene in Pan-Cancer Fusion Genes (peGinPCFGs).
DoF>8 and MAII<0
Context

PubMed: ABAT [Title/Abstract] AND PSMD12 [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
ChiTaRS3.1BF064196ABATchr16

8865884

-PSMD12chr17

65351510

+
* 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
intron-intronENST00000268251ENST00000356126ABATchr16

8865884

-PSMD12chr17

65351510

+
intron-intronENST00000268251ENST00000357146ABATchr16

8865884

-PSMD12chr17

65351510

+
intron-5UTRENST00000268251ENST00000581618ABATchr16

8865884

-PSMD12chr17

65351510

+
intron-intronENST00000396600ENST00000356126ABATchr16

8865884

-PSMD12chr17

65351510

+
intron-intronENST00000396600ENST00000357146ABATchr16

8865884

-PSMD12chr17

65351510

+
intron-5UTRENST00000396600ENST00000581618ABATchr16

8865884

-PSMD12chr17

65351510

+
intron-intronENST00000563215ENST00000356126ABATchr16

8865884

-PSMD12chr17

65351510

+
intron-intronENST00000563215ENST00000357146ABATchr16

8865884

-PSMD12chr17

65351510

+
intron-5UTRENST00000563215ENST00000581618ABATchr16

8865884

-PSMD12chr17

65351510

+
intron-intronENST00000567812ENST00000356126ABATchr16

8865884

-PSMD12chr17

65351510

+
intron-intronENST00000567812ENST00000357146ABATchr16

8865884

-PSMD12chr17

65351510

+
intron-5UTRENST00000567812ENST00000581618ABATchr16

8865884

-PSMD12chr17

65351510

+
intron-intronENST00000425191ENST00000356126ABATchr16

8865884

-PSMD12chr17

65351510

+
intron-intronENST00000425191ENST00000357146ABATchr16

8865884

-PSMD12chr17

65351510

+
intron-5UTRENST00000425191ENST00000581618ABATchr16

8865884

-PSMD12chr17

65351510

+
intron-intronENST00000569156ENST00000356126ABATchr16

8865884

-PSMD12chr17

65351510

+
intron-intronENST00000569156ENST00000357146ABATchr16

8865884

-PSMD12chr17

65351510

+
intron-5UTRENST00000569156ENST00000581618ABATchr16

8865884

-PSMD12chr17

65351510

+

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FusionProtFeatures for ABAT_PSMD12


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

P80404

PSMD12

O00232

Catalyzes the conversion of gamma-aminobutyrate and L-beta-aminoisobutyrate to succinate semialdehyde and methylmalonatesemialdehyde, respectively. Can also convert delta-aminovalerateand beta-alanine. Component of the 26S proteasome, a multiprotein complexinvolved in the ATP-dependent degradation of ubiquitinatedproteins. This complex plays a key role in the maintenance ofprotein homeostasis by removing misfolded or damaged proteins,which could impair cellular functions, and by removing proteinswhose functions are no longer required. Therefore, the proteasomeparticipates in numerous cellular processes, including cell cycleprogression, apoptosis, or DNA damage repair.{ECO:0000269|PubMed:1317798}.

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_PSMD12


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_PSMD12


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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RelatedDrugs for ABAT_PSMD12


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_PSMD12


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
TgenePSMD12C0011616Contact Dermatitis1CTD_human