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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: 8702

FusionGeneSummary for CSTB_PDE9A

check button Fusion gene summary
Fusion gene informationFusion gene name: CSTB_PDE9A
Fusion gene ID: 8702
HgeneTgene
Gene symbol

CSTB

PDE9A

Gene ID

1476

5152

Gene namecystatin Bphosphodiesterase 9A
SynonymsCPI-B|CST6|EPM1|EPM1A|PME|STFB|ULDHSPDE9A2
Cytomap

21q22.3

21q22.3

Type of geneprotein-codingprotein-coding
Descriptioncystatin-Bcystatin B (stefin B)liver thiol proteinase inhibitorhigh affinity cGMP-specific 3',5'-cyclic phosphodiesterase 9ACGMP-specific 3',5'-cyclic phosphodiesterase type 9phosphodiesterase PDE9A21
Modification date2018052320180519
UniProtAcc

P04080

O76083

Ensembl transtripts involved in fusion geneENST00000291568, ENST00000335512, 
ENST00000539837, ENST00000470987, 
ENST00000291539, ENST00000398236, 
ENST00000398229, ENST00000398234, 
ENST00000398232, ENST00000398227, 
ENST00000398225, ENST00000380328, 
ENST00000328862, ENST00000335440, 
ENST00000398224, ENST00000349112, 
Fusion gene scores* DoF score4 X 4 X 2=325 X 4 X 5=100
# samples 45
** MAII scorelog2(4/32*10)=0.321928094887362
effective Gene in Pan-Cancer Fusion Genes (eGinPCFGs).
DoF>8 and MAII>0		log2(5/100*10)=-1
possibly effective Gene in Pan-Cancer Fusion Genes (peGinPCFGs).
DoF>8 and MAII<0
Context

PubMed: CSTB [Title/Abstract] AND PDE9A [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
HgeneCSTB

GO:0010466

negative regulation of peptidase activity

6203523

HgeneCSTB

GO:0045861

negative regulation of proteolysis

3488317

TgenePDE9A

GO:0046068

cGMP metabolic process

9624146

TgenePDE9A

GO:0046069

cGMP catabolic process

25799991


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
TCGALDSARCTCGA-3B-A9HO-01ACSTBchr21

45196085

-PDE9Achr21

44188298

+
* 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
In-frameENST00000291568ENST00000335512CSTBchr21

45196085

-PDE9Achr21

44188298

+
In-frameENST00000291568ENST00000539837CSTBchr21

45196085

-PDE9Achr21

44188298

+
5CDS-3UTRENST00000291568ENST00000470987CSTBchr21

45196085

-PDE9Achr21

44188298

+
5CDS-3UTRENST00000291568ENST00000291539CSTBchr21

45196085

-PDE9Achr21

44188298

+
5CDS-3UTRENST00000291568ENST00000398236CSTBchr21

45196085

-PDE9Achr21

44188298

+
5CDS-3UTRENST00000291568ENST00000398229CSTBchr21

45196085

-PDE9Achr21

44188298

+
5CDS-3UTRENST00000291568ENST00000398234CSTBchr21

45196085

-PDE9Achr21

44188298

+
5CDS-3UTRENST00000291568ENST00000398232CSTBchr21

45196085

-PDE9Achr21

44188298

+
5CDS-3UTRENST00000291568ENST00000398227CSTBchr21

45196085

-PDE9Achr21

44188298

+
5CDS-3UTRENST00000291568ENST00000398225CSTBchr21

45196085

-PDE9Achr21

44188298

+
5CDS-3UTRENST00000291568ENST00000380328CSTBchr21

45196085

-PDE9Achr21

44188298

+
5CDS-3UTRENST00000291568ENST00000328862CSTBchr21

45196085

-PDE9Achr21

44188298

+
5CDS-3UTRENST00000291568ENST00000335440CSTBchr21

45196085

-PDE9Achr21

44188298

+
5CDS-3UTRENST00000291568ENST00000398224CSTBchr21

45196085

-PDE9Achr21

44188298

+
5CDS-3UTRENST00000291568ENST00000349112CSTBchr21

45196085

-PDE9Achr21

44188298

+

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FusionProtFeatures for CSTB_PDE9A


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

P04080

PDE9A

O76083

This is an intracellular thiol proteinase inhibitor.Tightly binding reversible inhibitor of cathepsins L, H and B.

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
TgenePDE9Achr21:45196085chr21:44188298ENST00000291539+1420512_513452594Nucleotide bindingcGMP
TgenePDE9Achr21:45196085chr21:44188298ENST00000328862+1319512_513426568Nucleotide bindingcGMP
TgenePDE9Achr21:45196085chr21:44188298ENST00000335440+1117512_513350492Nucleotide bindingcGMP
TgenePDE9Achr21:45196085chr21:44188298ENST00000335512+1319512_513392534Nucleotide bindingcGMP
TgenePDE9Achr21:45196085chr21:44188298ENST00000349112+1016512_513324466Nucleotide bindingcGMP
TgenePDE9Achr21:45196085chr21:44188298ENST00000380328+1319512_513399541Nucleotide bindingcGMP
TgenePDE9Achr21:45196085chr21:44188298ENST00000398224+1117512_513325467Nucleotide bindingcGMP
TgenePDE9Achr21:45196085chr21:44188298ENST00000398225+1319512_513411553Nucleotide bindingcGMP
TgenePDE9Achr21:45196085chr21:44188298ENST00000398227+915312_316292434Nucleotide bindingcGMP
TgenePDE9Achr21:45196085chr21:44188298ENST00000398227+915512_513292434Nucleotide bindingcGMP
TgenePDE9Achr21:45196085chr21:44188298ENST00000398229+1016512_513318460Nucleotide bindingcGMP
TgenePDE9Achr21:45196085chr21:44188298ENST00000398232+1218512_513385527Nucleotide bindingcGMP
TgenePDE9Achr21:45196085chr21:44188298ENST00000398234+1218512_513351493Nucleotide bindingcGMP
TgenePDE9Achr21:45196085chr21:44188298ENST00000398236+1218512_513366508Nucleotide bindingcGMP

- In-frame and not-retained protein feature among the 13 regional features.
>
PartnerGeneHbpTbpENSTStrandBPexonTotalExonProtein feature loci*BPlociTotalLenProtein featureProtein feature note
HgeneCSTBchr21:45196085chr21:44188298ENST00000291568-1346_502299MotifNote=Secondary area of contact
TgenePDE9Achr21:45196085chr21:44188298ENST00000291539+1420236_557452594DomainPDEase
TgenePDE9Achr21:45196085chr21:44188298ENST00000328862+1319236_557426568DomainPDEase
TgenePDE9Achr21:45196085chr21:44188298ENST00000335440+1117236_557350492DomainPDEase
TgenePDE9Achr21:45196085chr21:44188298ENST00000335512+1319236_557392534DomainPDEase
TgenePDE9Achr21:45196085chr21:44188298ENST00000349112+1016236_557324466DomainPDEase
TgenePDE9Achr21:45196085chr21:44188298ENST00000380328+1319236_557399541DomainPDEase
TgenePDE9Achr21:45196085chr21:44188298ENST00000398224+1117236_557325467DomainPDEase
TgenePDE9Achr21:45196085chr21:44188298ENST00000398225+1319236_557411553DomainPDEase
TgenePDE9Achr21:45196085chr21:44188298ENST00000398227+915236_557292434DomainPDEase
TgenePDE9Achr21:45196085chr21:44188298ENST00000398229+1016236_557318460DomainPDEase
TgenePDE9Achr21:45196085chr21:44188298ENST00000398232+1218236_557385527DomainPDEase
TgenePDE9Achr21:45196085chr21:44188298ENST00000398234+1218236_557351493DomainPDEase
TgenePDE9Achr21:45196085chr21:44188298ENST00000398236+1218236_557366508DomainPDEase
TgenePDE9Achr21:45196085chr21:44188298ENST00000291539+1420312_316452594Nucleotide bindingcGMP
TgenePDE9Achr21:45196085chr21:44188298ENST00000328862+1319312_316426568Nucleotide bindingcGMP
TgenePDE9Achr21:45196085chr21:44188298ENST00000335440+1117312_316350492Nucleotide bindingcGMP
TgenePDE9Achr21:45196085chr21:44188298ENST00000335512+1319312_316392534Nucleotide bindingcGMP
TgenePDE9Achr21:45196085chr21:44188298ENST00000349112+1016312_316324466Nucleotide bindingcGMP
TgenePDE9Achr21:45196085chr21:44188298ENST00000380328+1319312_316399541Nucleotide bindingcGMP
TgenePDE9Achr21:45196085chr21:44188298ENST00000398224+1117312_316325467Nucleotide bindingcGMP
TgenePDE9Achr21:45196085chr21:44188298ENST00000398225+1319312_316411553Nucleotide bindingcGMP
TgenePDE9Achr21:45196085chr21:44188298ENST00000398229+1016312_316318460Nucleotide bindingcGMP
TgenePDE9Achr21:45196085chr21:44188298ENST00000398232+1218312_316385527Nucleotide bindingcGMP
TgenePDE9Achr21:45196085chr21:44188298ENST00000398234+1218312_316351493Nucleotide bindingcGMP
TgenePDE9Achr21:45196085chr21:44188298ENST00000398236+1218312_316366508Nucleotide bindingcGMP


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FusionGeneSequence for CSTB_PDE9A


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.
>In-frame_CSTB_ENST00000291568_chr21_45196085_-_PDE9A_ENST00000335512_chr21_44188298_+_164aa
MMCGAPSATQPATAETQHIADQLKMILIKCCDISNEVRPMEVAEPWVDCLLEETFMQSDREKSEGLPVAPFMDRDKVTKATAQIGFIKFV

>In-frame_CSTB_ENST00000291568_chr21_45196085_-_PDE9A_ENST00000539837_chr21_44188298_+_164aa
MMCGAPSATQPATAETQHIADQLKMILIKCCDISNEVRPMEVAEPWVDCLLEETFMQSDREKSEGLPVAPFMDRDKVTKATAQIGFIKFV


* Fusion transcript sequences (only coding sequence (CDS) region).
>In-frame_CSTB_ENST00000291568_chr21_45196085_-_PDE9A_ENST00000335512_chr21_44188298_+_492nt
ATGATGTGCGGGGCGCCCTCCGCCACGCAGCCGGCCACCGCCGAGACCCAGCACATCGCCGACCAGCTGAAGATGATTTTGATAAAATGC
TGTGATATCTCTAACGAGGTCCGTCCAATGGAAGTCGCAGAGCCTTGGGTGGACTGTTTATTAGAGGAATATTTTATGCAGAGCGACCGT
GAGAAGTCAGAAGGCCTTCCTGTGGCACCGTTCATGGACCGAGACAAAGTGACCAAGGCCACAGCCCAGATTGGGTTCATCAAGTTTGTC
CTGATCCCAATGTTTGAAACAGTGACCAAGCTCTTCCCCATGGTTGAGGAGATCATGCTGCAGCCACTTTGGGAATCCCGAGATCGCTAC
GAGGAGCTGAAGCGGATAGATGACGCCATGAAAGAGTTACAGAAGAAGACTGACAGCTTGACGTCTGGGGCCACCGAGAAGTCCAGAGAG

>In-frame_CSTB_ENST00000291568_chr21_45196085_-_PDE9A_ENST00000539837_chr21_44188298_+_492nt
ATGATGTGCGGGGCGCCCTCCGCCACGCAGCCGGCCACCGCCGAGACCCAGCACATCGCCGACCAGCTGAAGATGATTTTGATAAAATGC
TGTGATATCTCTAACGAGGTCCGTCCAATGGAAGTCGCAGAGCCTTGGGTGGACTGTTTATTAGAGGAATATTTTATGCAGAGCGACCGT
GAGAAGTCAGAAGGCCTTCCTGTGGCACCGTTCATGGACCGAGACAAAGTGACCAAGGCCACAGCCCAGATTGGGTTCATCAAGTTTGTC
CTGATCCCAATGTTTGAAACAGTGACCAAGCTCTTCCCCATGGTTGAGGAGATCATGCTGCAGCCACTTTGGGAATCCCGAGATCGCTAC
GAGGAGCTGAAGCGGATAGATGACGCCATGAAAGAGTTACAGAAGAAGACTGACAGCTTGACGTCTGGGGCCACCGAGAAGTCCAGAGAG


* Fusion transcript sequences (Full-length transcript).
>In-frame_CSTB_ENST00000291568_chr21_45196085_-_PDE9A_ENST00000335512_chr21_44188298_+_884nt
CGCGTCCCTTCTTGCGGGGCCACCGCGACCCCGCAGGGGACTCCGAAGCCAAAGTGCCTCCTCCCCGCCCCTTGGTTCCGCCCGCGCGTC
ACGTGACCCCAGCGCCTACTTGGGCTGAGGAGCCGCCGCGTCCCCTCGCCGAGTCCCCTCGCCAGATTCCCTCCGTCGCCGCCAAGATGA
TGTGCGGGGCGCCCTCCGCCACGCAGCCGGCCACCGCCGAGACCCAGCACATCGCCGACCAGCTGAAGATGATTTTGATAAAATGCTGTG
ATATCTCTAACGAGGTCCGTCCAATGGAAGTCGCAGAGCCTTGGGTGGACTGTTTATTAGAGGAATATTTTATGCAGAGCGACCGTGAGA
AGTCAGAAGGCCTTCCTGTGGCACCGTTCATGGACCGAGACAAAGTGACCAAGGCCACAGCCCAGATTGGGTTCATCAAGTTTGTCCTGA
TCCCAATGTTTGAAACAGTGACCAAGCTCTTCCCCATGGTTGAGGAGATCATGCTGCAGCCACTTTGGGAATCCCGAGATCGCTACGAGG
AGCTGAAGCGGATAGATGACGCCATGAAAGAGTTACAGAAGAAGACTGACAGCTTGACGTCTGGGGCCACCGAGAAGTCCAGAGAGAGAA
GCAGAGATGTGAAAAACAGTGAAGGAGACTGTGCCTGAGGAAAGCGGGGGGCGTGGCTGCAGTTCTGGACGGGCTGGCCGAGCTGCGCGG
GATCCTTGTGCAGGGAAGAGCTGCCCTGGGCACCTGGCACCACAAGACCATGTTTTCTAAGAACCATTTTGTTCACTGATACAAAAAAAA

>In-frame_CSTB_ENST00000291568_chr21_45196085_-_PDE9A_ENST00000539837_chr21_44188298_+_881nt
CGCGTCCCTTCTTGCGGGGCCACCGCGACCCCGCAGGGGACTCCGAAGCCAAAGTGCCTCCTCCCCGCCCCTTGGTTCCGCCCGCGCGTC
ACGTGACCCCAGCGCCTACTTGGGCTGAGGAGCCGCCGCGTCCCCTCGCCGAGTCCCCTCGCCAGATTCCCTCCGTCGCCGCCAAGATGA
TGTGCGGGGCGCCCTCCGCCACGCAGCCGGCCACCGCCGAGACCCAGCACATCGCCGACCAGCTGAAGATGATTTTGATAAAATGCTGTG
ATATCTCTAACGAGGTCCGTCCAATGGAAGTCGCAGAGCCTTGGGTGGACTGTTTATTAGAGGAATATTTTATGCAGAGCGACCGTGAGA
AGTCAGAAGGCCTTCCTGTGGCACCGTTCATGGACCGAGACAAAGTGACCAAGGCCACAGCCCAGATTGGGTTCATCAAGTTTGTCCTGA
TCCCAATGTTTGAAACAGTGACCAAGCTCTTCCCCATGGTTGAGGAGATCATGCTGCAGCCACTTTGGGAATCCCGAGATCGCTACGAGG
AGCTGAAGCGGATAGATGACGCCATGAAAGAGTTACAGAAGAAGACTGACAGCTTGACGTCTGGGGCCACCGAGAAGTCCAGAGAGAGAA
GCAGAGATGTGAAAAACAGTGAAGGAGACTGTGCCTGAGGAAAGCGGGGGGCGTGGCTGCAGTTCTGGACGGGCTGGCCGAGCTGCGCGG
GATCCTTGTGCAGGGAAGAGCTGCCCTGGGCACCTGGCACCACAAGACCATGTTTTCTAAGAACCATTTTGTTCACTGATACAAAAAAAA


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FusionGenePPI for CSTB_PDE9A


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
CSTBVHL, CTSB, CTSH, CST3, SPRY2, RAD21, CUL3, DCUN1D1, MAT2A, NUDC, FLNB, SEC24A, ECT2, CFTR, BAG3, DPP7, SARNP, ABCE1, PCMT1, GSTT1, PDCD6, HIST1H3E, MCM2, DUSP13PDE9ATRIM32, PHYHIPL, PDE9A, CLK1, CRY2, LMO2, SULT1E1, LAGE3, BAG3, GORASP2, TRPV6, KRTAP9-2, UTP23, NAA38, KRTAP4-2, KRTAP10-8, KRTAP10-3, NOTCH2NL, C9orf106, UNC119, TFAP4, C12orf75, PRKG2, RSPRY1, NPHP3


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 CSTB_PDE9A


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 CSTB_PDE9A


check button Diseases associated with fusion partners.
(DisGeNet 4.0)
PartnerGeneDisease IDDisease name# pubmedsSource
HgeneCSTBC0751785Unverricht-Lundborg Syndrome3CTD_human;ORPHANET;UNIPROT
HgeneCSTBC0027626Neoplasm Invasiveness2CTD_human
HgeneCSTBC0017636Glioblastoma1CTD_human
HgeneCSTBC0025286Meningioma1CTD_human
HgeneCSTBC0279626Squamous cell carcinoma of esophagus1CTD_human
TgenePDE9AC0005586Bipolar Disorder1PSYGENET