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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: 28873

FusionGeneSummary for PRPF40B_DAZAP1

check button Fusion gene summary
Fusion gene informationFusion gene name: PRPF40B_DAZAP1
Fusion gene ID: 28873
HgeneTgene
Gene symbol

PRPF40B

DAZAP1

Gene ID

25766

26528

Gene namepre-mRNA processing factor 40 homolog BDAZ associated protein 1
SynonymsHYPC-
Cytomap

12q13.12

19p13.3

Type of geneprotein-codingprotein-coding
Descriptionpre-mRNA-processing factor 40 homolog BHuntingtin interacting protein CPRP40 pre-mRNA processing factor 40 homolog Bhuntingtin yeast partner CDAZ-associated protein 1deleted in azoospermia-associated protein 1testicular tissue protein Li 50
Modification date2018052420180523
UniProtAcc

Q6NWY9

Q96EP5

Ensembl transtripts involved in fusion geneENST00000508736, ENST00000548825, 
ENST00000261897, ENST00000380281, 
ENST00000336761, ENST00000233078, 
ENST00000586579, 
Fusion gene scores* DoF score6 X 6 X 4=1446 X 5 X 2=60
# samples 65
** MAII scorelog2(6/144*10)=-1.26303440583379
possibly effective Gene in Pan-Cancer Fusion Genes (peGinPCFGs).
DoF>8 and MAII<0
log2(5/60*10)=-0.263034405833794
possibly effective Gene in Pan-Cancer Fusion Genes (peGinPCFGs).
DoF>8 and MAII<0
Context

PubMed: PRPF40B [Title/Abstract] AND DAZAP1 [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
ChiTaRS3.1BF932401PRPF40Bchr12

50037502

-DAZAP1chr19

1422851

+
* 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-intronENST00000508736ENST00000336761PRPF40Bchr12

50037502

-DAZAP1chr19

1422851

+
intron-intronENST00000508736ENST00000233078PRPF40Bchr12

50037502

-DAZAP1chr19

1422851

+
intron-intronENST00000508736ENST00000586579PRPF40Bchr12

50037502

-DAZAP1chr19

1422851

+
5CDS-intronENST00000548825ENST00000336761PRPF40Bchr12

50037502

-DAZAP1chr19

1422851

+
5CDS-intronENST00000548825ENST00000233078PRPF40Bchr12

50037502

-DAZAP1chr19

1422851

+
5CDS-intronENST00000548825ENST00000586579PRPF40Bchr12

50037502

-DAZAP1chr19

1422851

+
5CDS-intronENST00000261897ENST00000336761PRPF40Bchr12

50037502

-DAZAP1chr19

1422851

+
5CDS-intronENST00000261897ENST00000233078PRPF40Bchr12

50037502

-DAZAP1chr19

1422851

+
5CDS-intronENST00000261897ENST00000586579PRPF40Bchr12

50037502

-DAZAP1chr19

1422851

+
5CDS-intronENST00000380281ENST00000336761PRPF40Bchr12

50037502

-DAZAP1chr19

1422851

+
5CDS-intronENST00000380281ENST00000233078PRPF40Bchr12

50037502

-DAZAP1chr19

1422851

+
5CDS-intronENST00000380281ENST00000586579PRPF40Bchr12

50037502

-DAZAP1chr19

1422851

+

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FusionProtFeatures for PRPF40B_DAZAP1


check buttonMain function of each fusion partner protein. (from UniProt)
HgeneTgene
PRPF40B

Q6NWY9

DAZAP1

Q96EP5

May be involved in pre-mRNA splicing.{ECO:0000269|PubMed:9700202}. RNA-binding protein, which may be required duringspermatogenesis.

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 PRPF40B_DAZAP1


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 PRPF40B_DAZAP1


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 PRPF40B_DAZAP1


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 PRPF40B_DAZAP1


check button Diseases associated with fusion partners.
(DisGeNet 4.0)
PartnerGeneDisease IDDisease name# pubmedsSource
TgeneDAZAP1C0005586Bipolar Disorder1PSYGENET
TgeneDAZAP1C0036341Schizophrenia1PSYGENET