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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: 45

FusionGeneSummary for AARSD1_DIABLO

check button Fusion gene summary
Fusion gene informationFusion gene name: AARSD1_DIABLO
Fusion gene ID: 45
HgeneTgene
Gene symbol

AARSD1

DIABLO

Gene ID

80755

56616

Gene namealanyl-tRNA synthetase domain containing 1diablo IAP-binding mitochondrial protein
Synonyms-DFNA64|SMAC
Cytomap

17q21.31

12q24.31

Type of geneprotein-codingprotein-coding
Descriptionalanyl-tRNA editing protein Aarsd1alanyl-tRNA synthetase domain-containing protein 1diablo homolog, mitochondrialdiablo-like proteindirect IAP-binding protein with low pIsecond mitochondria-derived activator of caspase
Modification date2018052320180523
UniProtAcc

Q9BTE6

Q9NR28

Ensembl transtripts involved in fusion geneENST00000427569, ENST00000416949, 
ENST00000413918, ENST00000353548, 
ENST00000443649, ENST00000464942, 
ENST00000267169, ENST00000475784, 
Fusion gene scores* DoF score5 X 5 X 5=1254 X 3 X 3=36
# samples 54
** MAII scorelog2(5/125*10)=-1.32192809488736
possibly effective Gene in Pan-Cancer Fusion Genes (peGinPCFGs).
DoF>8 and MAII<0
log2(4/36*10)=0.15200309344505
effective Gene in Pan-Cancer Fusion Genes (eGinPCFGs).
DoF>8 and MAII>0
Context

PubMed: AARSD1 [Title/Abstract] AND DIABLO [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
ChiTaRS3.1BF363833AARSD1chr17

41109163

-DIABLOchr12

122692567

+
* 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-3UTRENST00000427569ENST00000413918AARSD1chr17

41109163

-DIABLOchr12

122692567

+
intron-3UTRENST00000427569ENST00000353548AARSD1chr17

41109163

-DIABLOchr12

122692567

+
intron-3UTRENST00000427569ENST00000443649AARSD1chr17

41109163

-DIABLOchr12

122692567

+
intron-3UTRENST00000427569ENST00000464942AARSD1chr17

41109163

-DIABLOchr12

122692567

+
intron-3UTRENST00000427569ENST00000267169AARSD1chr17

41109163

-DIABLOchr12

122692567

+
intron-intronENST00000427569ENST00000475784AARSD1chr17

41109163

-DIABLOchr12

122692567

+
intron-3UTRENST00000416949ENST00000413918AARSD1chr17

41109163

-DIABLOchr12

122692567

+
intron-3UTRENST00000416949ENST00000353548AARSD1chr17

41109163

-DIABLOchr12

122692567

+
intron-3UTRENST00000416949ENST00000443649AARSD1chr17

41109163

-DIABLOchr12

122692567

+
intron-3UTRENST00000416949ENST00000464942AARSD1chr17

41109163

-DIABLOchr12

122692567

+
intron-3UTRENST00000416949ENST00000267169AARSD1chr17

41109163

-DIABLOchr12

122692567

+
intron-intronENST00000416949ENST00000475784AARSD1chr17

41109163

-DIABLOchr12

122692567

+

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FusionProtFeatures for AARSD1_DIABLO


check buttonMain function of each fusion partner protein. (from UniProt)
HgeneTgene
AARSD1

Q9BTE6

DIABLO

Q9NR28

Functions in trans to edit the amino acid moiety fromincorrectly charged tRNA(Ala). {ECO:0000250}. Promotes apoptosis by activating caspases in thecytochrome c/Apaf-1/caspase-9 pathway. Acts by opposing theinhibitory activity of inhibitor of apoptosis proteins (IAP).Inhibits the activity of BIRC6/bruce by inhibiting its binding tocaspases. Isoform 3 attenuates the stability and apoptosis-inhibiting activity of XIAP/BIRC4 by promoting XIAP/BIRC4ubiquitination and degradation through the ubiquitin-proteasomepathway. Isoform 3 also disrupts XIAP/BIRC4 interacting withprocessed caspase-9 and promotes caspase-3 activation. Isoform 1is defective in the capacity to down-regulate the XIAP/BIRC4abundance. {ECO:0000269|PubMed:10929711,ECO:0000269|PubMed:14523016, ECO:0000269|PubMed:15200957}.

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 AARSD1_DIABLO


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 AARSD1_DIABLO


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 AARSD1_DIABLO


check button Drugs targeting genes involved in this fusion gene.
(DrugBank Version 5.1.0 2018-04-02)
PartnerGeneUniProtAccDrugBank IDDrug nameDrug activityDrug typeDrug status

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RelatedDiseases for AARSD1_DIABLO


check button Diseases associated with fusion partners.
(DisGeNet 4.0)
PartnerGeneDisease IDDisease name# pubmedsSource
TgeneDIABLOC0007786Brain Ischemia1CTD_human
TgeneDIABLOC0020179Huntington Disease1CTD_human
TgeneDIABLOC0027055Myocardial Reperfusion Injury1CTD_human
TgeneDIABLOC0033578Prostatic Neoplasms1CTD_human
TgeneDIABLOC3279948DEAFNESS, AUTOSOMAL DOMINANT 641UNIPROT