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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: 10469

FusionGeneSummary for DPH6_AQR

check button Fusion gene summary
Fusion gene informationFusion gene name: DPH6_AQR
Fusion gene ID: 10469
HgeneTgene
Gene symbol

DPH6

AQR

Gene ID

89978

9716

Gene namediphthamine biosynthesis 6aquarius intron-binding spliceosomal factor
SynonymsATPBD4IBP160|fSAP164
Cytomap

15q14

15q14

Type of geneprotein-codingprotein-coding
Descriptiondiphthine--ammonia ligaseATP binding domain 4ATP-binding domain-containing protein 4DPH6 homologdiphthamide synthasediphthamide synthetaseprotein DPH6 homologRNA helicase aquariusaquarius homologfunctional spliceosome-associated protein 164intron-binding protein aquariusintron-binding protein of 160 kDa
Modification date2018052320180523
UniProtAcc

Q7L8W6

O60306

Ensembl transtripts involved in fusion geneENST00000560386, ENST00000256538, 
ENST00000440392, 
ENST00000156471, 
Fusion gene scores* DoF score3 X 3 X 3=272 X 2 X 2=8
# samples 32
** MAII scorelog2(3/27*10)=0.15200309344505
effective Gene in Pan-Cancer Fusion Genes (eGinPCFGs).
DoF>8 and MAII>0
log2(2/8*10)=1.32192809488736
Context

PubMed: DPH6 [Title/Abstract] AND AQR [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
TgeneAQR

GO:0000398

mRNA splicing, via spliceosome

28076346


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
TCGALDESCATCGA-LN-A49V-01ADPH6chr15

35830475

-AQRchr15

35149307

-
* 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-3CDSENST00000560386ENST00000156471DPH6chr15

35830475

-AQRchr15

35149307

-
Frame-shiftENST00000256538ENST00000156471DPH6chr15

35830475

-AQRchr15

35149307

-
Frame-shiftENST00000440392ENST00000156471DPH6chr15

35830475

-AQRchr15

35149307

-

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FusionProtFeatures for DPH6_AQR


check buttonMain function of each fusion partner protein. (from UniProt)
HgeneTgene
DPH6

Q7L8W6

AQR

O60306

Amidase that catalyzes the last step of diphthamidebiosynthesis using ammonium and ATP. Diphthamide biosynthesisconsists in the conversion of an L-histidine residue in thetranslation elongation factor (EEF2) to diphthamide (Bysimilarity). {ECO:0000250, ECO:0000269|PubMed:23169644}. Involved in pre-mRNA splicing as component of thespliceosome (PubMed:11991638, PubMed:25599396, PubMed:28502770,PubMed:28076346). Intron-binding spliceosomal protein required tolink pre-mRNA splicing and snoRNP (small nucleolarribonucleoprotein) biogenesis (PubMed:16949364). Plays a key rolein position-dependent assembly of intron-encoded box C/D smallsnoRNP, splicing being required for snoRNP assembly(PubMed:16949364). May act by helping the folding of the snoRNAsequence. Binds to intron of pre-mRNAs in a sequence-independentmanner, contacting the region between snoRNA and the branchpointof introns (40 nucleotides upstream of the branchpoint) during thelate stages of splicing (PubMed:16949364). Has ATP-dependent RNAhelicase activity and can unwind double-stranded RNA moleculeswith a 3' overhang (in vitro) (PubMed:25599396).{ECO:0000269|PubMed:11991638, ECO:0000269|PubMed:16949364,ECO:0000269|PubMed:25599396, ECO:0000269|PubMed:28076346,ECO:0000269|PubMed:28502770}.

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 DPH6_AQR


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 DPH6_AQR


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
DPH6ATP2B2, KIAA1919, SLC18A1, ADAMTS4, S100A8, GRPR, PTGIR, TMCO3, C5AR2, SMARCB1AQRUSP28, SIRT7, HNRNPA1, EIF4A3, MAGOH, PQBP1, RBM22, WDR83, ZNF830, RBM4, WDR77, LGR4, SHMT2, NXF1, OBSL1, SUZ12, RNF2, BMI1, SNRPA1, DHX8, TSSC4, USB1, RALYL, PPIE, CCDC94, SNRNP40, SNIP1, CRNKL1, ISY1-RAB43, ISY1, SF3A2, XAB2, PPP4R1, NTRK1, BLM, SNW1, PRPF19, SNRPE, SYF2, KIAA1143, ELAVL2, DVL3, SNRPF, SNRPN, SNRPG, C11orf57, PLRG1, CD44, ZC3H18, PNN, CD2BP2, EAPP


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 DPH6_AQR


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 DPH6_AQR


check button Diseases associated with fusion partners.
(DisGeNet 4.0)
PartnerGeneDisease IDDisease name# pubmedsSource