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Fusion gene ID: 8702 |
FusionGeneSummary for CSTB_PDE9A |
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Fusion gene information | Fusion gene name: CSTB_PDE9A | Fusion gene ID: 8702 | Hgene | Tgene | Gene symbol | CSTB | PDE9A | Gene ID | 1476 | 5152 |
Gene name | cystatin B | phosphodiesterase 9A | |
Synonyms | CPI-B|CST6|EPM1|EPM1A|PME|STFB|ULD | HSPDE9A2 | |
Cytomap | 21q22.3 | 21q22.3 | |
Type of gene | protein-coding | protein-coding | |
Description | cystatin-Bcystatin B (stefin B)liver thiol proteinase inhibitor | high affinity cGMP-specific 3',5'-cyclic phosphodiesterase 9ACGMP-specific 3',5'-cyclic phosphodiesterase type 9phosphodiesterase PDE9A21 | |
Modification date | 20180523 | 20180519 | |
UniProtAcc | P04080 | O76083 | |
Ensembl transtripts involved in fusion gene | ENST00000291568, | ENST00000335512, ENST00000539837, ENST00000470987, ENST00000291539, ENST00000398236, ENST00000398229, ENST00000398234, ENST00000398232, ENST00000398227, ENST00000398225, ENST00000380328, ENST00000328862, ENST00000335440, ENST00000398224, ENST00000349112, | |
Fusion gene scores | * DoF score | 4 X 4 X 2=32 | 5 X 4 X 5=100 |
# samples | 4 | 5 | |
** MAII score | log2(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) |
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Partner | Gene | GO ID | GO term | PubMed ID |
Hgene | CSTB | GO:0010466 | negative regulation of peptidase activity | 6203523 |
Hgene | CSTB | GO:0045861 | negative regulation of proteolysis | 3488317 |
Tgene | PDE9A | GO:0046068 | cGMP metabolic process | 9624146 |
Tgene | PDE9A | GO:0046069 | cGMP catabolic process | 25799991 |
![]() (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 type | Source | Cancer type | Sample | Hgene | Hchr | Hbp | Hstrand | Tgene | Tchr | Tbp | Tstrand |
TCGA | LD | SARC | TCGA-3B-A9HO-01A | CSTB | chr21 | 45196085 | - | PDE9A | chr21 | 44188298 | + |
* LD: Li Ding group's fusion gene list RV: Roel Verhaak group's fusion gene list ChiTaRs fusion database |
![]() * Click on the break point to see the gene structure around the break point region using the UCSC Genome Browser. |
ORF | Henst | Tenst | Hgene | Hchr | Hbp | Hstrand | Tgene | Tchr | Tbp | Tstrand |
In-frame | ENST00000291568 | ENST00000335512 | CSTB | chr21 | 45196085 | - | PDE9A | chr21 | 44188298 | + |
In-frame | ENST00000291568 | ENST00000539837 | CSTB | chr21 | 45196085 | - | PDE9A | chr21 | 44188298 | + |
5CDS-3UTR | ENST00000291568 | ENST00000470987 | CSTB | chr21 | 45196085 | - | PDE9A | chr21 | 44188298 | + |
5CDS-3UTR | ENST00000291568 | ENST00000291539 | CSTB | chr21 | 45196085 | - | PDE9A | chr21 | 44188298 | + |
5CDS-3UTR | ENST00000291568 | ENST00000398236 | CSTB | chr21 | 45196085 | - | PDE9A | chr21 | 44188298 | + |
5CDS-3UTR | ENST00000291568 | ENST00000398229 | CSTB | chr21 | 45196085 | - | PDE9A | chr21 | 44188298 | + |
5CDS-3UTR | ENST00000291568 | ENST00000398234 | CSTB | chr21 | 45196085 | - | PDE9A | chr21 | 44188298 | + |
5CDS-3UTR | ENST00000291568 | ENST00000398232 | CSTB | chr21 | 45196085 | - | PDE9A | chr21 | 44188298 | + |
5CDS-3UTR | ENST00000291568 | ENST00000398227 | CSTB | chr21 | 45196085 | - | PDE9A | chr21 | 44188298 | + |
5CDS-3UTR | ENST00000291568 | ENST00000398225 | CSTB | chr21 | 45196085 | - | PDE9A | chr21 | 44188298 | + |
5CDS-3UTR | ENST00000291568 | ENST00000380328 | CSTB | chr21 | 45196085 | - | PDE9A | chr21 | 44188298 | + |
5CDS-3UTR | ENST00000291568 | ENST00000328862 | CSTB | chr21 | 45196085 | - | PDE9A | chr21 | 44188298 | + |
5CDS-3UTR | ENST00000291568 | ENST00000335440 | CSTB | chr21 | 45196085 | - | PDE9A | chr21 | 44188298 | + |
5CDS-3UTR | ENST00000291568 | ENST00000398224 | CSTB | chr21 | 45196085 | - | PDE9A | chr21 | 44188298 | + |
5CDS-3UTR | ENST00000291568 | ENST00000349112 | CSTB | chr21 | 45196085 | - | PDE9A | chr21 | 44188298 | + |
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FusionProtFeatures for CSTB_PDE9A |
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Hgene | Tgene |
CSTB | PDE9A |
This is an intracellular thiol proteinase inhibitor.Tightly binding reversible inhibitor of cathepsins L, H and B. |
![]() * 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. |
Partner | Gene | Hbp | Tbp | ENST | Strand | BPexon | TotalExon | Protein feature loci | *BPloci | TotalLen | Protein feature | Protein feature note |
Tgene | >PDE9A | chr21:45196085 | chr21:44188298 | ENST00000291539 | + | 14 | 20 | 512_513 | 452 | 594 | Nucleotide binding | cGMP |
Tgene | >PDE9A | chr21:45196085 | chr21:44188298 | ENST00000328862 | + | 13 | 19 | 512_513 | 426 | 568 | Nucleotide binding | cGMP |
Tgene | >PDE9A | chr21:45196085 | chr21:44188298 | ENST00000335440 | + | 11 | 17 | 512_513 | 350 | 492 | Nucleotide binding | cGMP |
Tgene | >PDE9A | chr21:45196085 | chr21:44188298 | ENST00000335512 | + | 13 | 19 | 512_513 | 392 | 534 | Nucleotide binding | cGMP |
Tgene | >PDE9A | chr21:45196085 | chr21:44188298 | ENST00000349112 | + | 10 | 16 | 512_513 | 324 | 466 | Nucleotide binding | cGMP |
Tgene | >PDE9A | chr21:45196085 | chr21:44188298 | ENST00000380328 | + | 13 | 19 | 512_513 | 399 | 541 | Nucleotide binding | cGMP |
Tgene | >PDE9A | chr21:45196085 | chr21:44188298 | ENST00000398224 | + | 11 | 17 | 512_513 | 325 | 467 | Nucleotide binding | cGMP |
Tgene | >PDE9A | chr21:45196085 | chr21:44188298 | ENST00000398225 | + | 13 | 19 | 512_513 | 411 | 553 | Nucleotide binding | cGMP |
Tgene | >PDE9A | chr21:45196085 | chr21:44188298 | ENST00000398227 | + | 9 | 15 | 312_316 | 292 | 434 | Nucleotide binding | cGMP |
Tgene | >PDE9A | chr21:45196085 | chr21:44188298 | ENST00000398227 | + | 9 | 15 | 512_513 | 292 | 434 | Nucleotide binding | cGMP |
Tgene | >PDE9A | chr21:45196085 | chr21:44188298 | ENST00000398229 | + | 10 | 16 | 512_513 | 318 | 460 | Nucleotide binding | cGMP |
Tgene | >PDE9A | chr21:45196085 | chr21:44188298 | ENST00000398232 | + | 12 | 18 | 512_513 | 385 | 527 | Nucleotide binding | cGMP |
Tgene | >PDE9A | chr21:45196085 | chr21:44188298 | ENST00000398234 | + | 12 | 18 | 512_513 | 351 | 493 | Nucleotide binding | cGMP |
Tgene | >PDE9A | chr21:45196085 | chr21:44188298 | ENST00000398236 | + | 12 | 18 | 512_513 | 366 | 508 | Nucleotide binding | cGMP |
- In-frame and not-retained protein feature among the 13 regional features. |
Partner | Gene | Hbp | Tbp | ENST | Strand | BPexon | TotalExon | Protein feature loci | *BPloci | TotalLen | Protein feature | Protein feature note |
Hgene | >CSTB | chr21:45196085 | chr21:44188298 | ENST00000291568 | - | 1 | 3 | 46_50 | 22 | 99 | Motif | Note=Secondary area of contact |
Tgene | PDE9A | chr21:45196085 | chr21:44188298 | ENST00000291539 | + | 14 | 20 | 236_557 | 452 | 594 | Domain | PDEase |
Tgene | PDE9A | chr21:45196085 | chr21:44188298 | ENST00000328862 | + | 13 | 19 | 236_557 | 426 | 568 | Domain | PDEase |
Tgene | PDE9A | chr21:45196085 | chr21:44188298 | ENST00000335440 | + | 11 | 17 | 236_557 | 350 | 492 | Domain | PDEase |
Tgene | PDE9A | chr21:45196085 | chr21:44188298 | ENST00000335512 | + | 13 | 19 | 236_557 | 392 | 534 | Domain | PDEase |
Tgene | PDE9A | chr21:45196085 | chr21:44188298 | ENST00000349112 | + | 10 | 16 | 236_557 | 324 | 466 | Domain | PDEase |
Tgene | PDE9A | chr21:45196085 | chr21:44188298 | ENST00000380328 | + | 13 | 19 | 236_557 | 399 | 541 | Domain | PDEase |
Tgene | PDE9A | chr21:45196085 | chr21:44188298 | ENST00000398224 | + | 11 | 17 | 236_557 | 325 | 467 | Domain | PDEase |
Tgene | PDE9A | chr21:45196085 | chr21:44188298 | ENST00000398225 | + | 13 | 19 | 236_557 | 411 | 553 | Domain | PDEase |
Tgene | PDE9A | chr21:45196085 | chr21:44188298 | ENST00000398227 | + | 9 | 15 | 236_557 | 292 | 434 | Domain | PDEase |
Tgene | PDE9A | chr21:45196085 | chr21:44188298 | ENST00000398229 | + | 10 | 16 | 236_557 | 318 | 460 | Domain | PDEase |
Tgene | PDE9A | chr21:45196085 | chr21:44188298 | ENST00000398232 | + | 12 | 18 | 236_557 | 385 | 527 | Domain | PDEase |
Tgene | PDE9A | chr21:45196085 | chr21:44188298 | ENST00000398234 | + | 12 | 18 | 236_557 | 351 | 493 | Domain | PDEase |
Tgene | PDE9A | chr21:45196085 | chr21:44188298 | ENST00000398236 | + | 12 | 18 | 236_557 | 366 | 508 | Domain | PDEase |
Tgene | PDE9A | chr21:45196085 | chr21:44188298 | ENST00000291539 | + | 14 | 20 | 312_316 | 452 | 594 | Nucleotide binding | cGMP |
Tgene | PDE9A | chr21:45196085 | chr21:44188298 | ENST00000328862 | + | 13 | 19 | 312_316 | 426 | 568 | Nucleotide binding | cGMP |
Tgene | PDE9A | chr21:45196085 | chr21:44188298 | ENST00000335440 | + | 11 | 17 | 312_316 | 350 | 492 | Nucleotide binding | cGMP |
Tgene | PDE9A | chr21:45196085 | chr21:44188298 | ENST00000335512 | + | 13 | 19 | 312_316 | 392 | 534 | Nucleotide binding | cGMP |
Tgene | PDE9A | chr21:45196085 | chr21:44188298 | ENST00000349112 | + | 10 | 16 | 312_316 | 324 | 466 | Nucleotide binding | cGMP |
Tgene | PDE9A | chr21:45196085 | chr21:44188298 | ENST00000380328 | + | 13 | 19 | 312_316 | 399 | 541 | Nucleotide binding | cGMP |
Tgene | PDE9A | chr21:45196085 | chr21:44188298 | ENST00000398224 | + | 11 | 17 | 312_316 | 325 | 467 | Nucleotide binding | cGMP |
Tgene | PDE9A | chr21:45196085 | chr21:44188298 | ENST00000398225 | + | 13 | 19 | 312_316 | 411 | 553 | Nucleotide binding | cGMP |
Tgene | PDE9A | chr21:45196085 | chr21:44188298 | ENST00000398229 | + | 10 | 16 | 312_316 | 318 | 460 | Nucleotide binding | cGMP |
Tgene | PDE9A | chr21:45196085 | chr21:44188298 | ENST00000398232 | + | 12 | 18 | 312_316 | 385 | 527 | Nucleotide binding | cGMP |
Tgene | PDE9A | chr21:45196085 | chr21:44188298 | ENST00000398234 | + | 12 | 18 | 312_316 | 351 | 493 | Nucleotide binding | cGMP |
Tgene | PDE9A | chr21:45196085 | chr21:44188298 | ENST00000398236 | + | 12 | 18 | 312_316 | 366 | 508 | Nucleotide binding | cGMP |
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FusionGeneSequence for CSTB_PDE9A |
![]() (nt: nucleotides, aa: amino acids) |
* Fusion amino acid sequences. |
>In-frame_CSTB_ENST00000291568_chr21_45196085_-_PDE9A_ENST00000335512_chr21_44188298_+_164aa MMCGAPSATQPATAETQHIADQLKMILIKCCDISNEVRPMEVAEPWVDCLLEEYFMQSDREKSEGLPVAPFMDRDKVTKATAQIGFIKFV >In-frame_CSTB_ENST00000291568_chr21_45196085_-_PDE9A_ENST00000539837_chr21_44188298_+_164aa MMCGAPSATQPATAETQHIADQLKMILIKCCDISNEVRPMEVAEPWVDCLLEEYFMQSDREKSEGLPVAPFMDRDKVTKATAQIGFIKFV |
* 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 |
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Hgene | Hgene's interactors | Tgene | Tgene's interactors |
CSTB | VHL, CTSB, CTSH, CST3, SPRY2, RAD21, CUL3, DCUN1D1, MAT2A, NUDC, FLNB, SEC24A, ECT2, CFTR, BAG3, DPP7, SARNP, ABCE1, PCMT1, GSTT1, PDCD6, HIST1H3E, MCM2, DUSP13 | PDE9A | TRIM32, 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 |
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Partner | Gene | Hbp | Tbp | ENST | Strand | BPexon | TotalExon | Protein feature loci | *BPloci | TotalLen | Still interaction with |
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Partner | Gene | Hbp | Tbp | ENST | Strand | BPexon | TotalExon | Protein feature loci | *BPloci | TotalLen | Interaction lost with |
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Partner | Gene | Hbp | Tbp | ENST | Strand | BPexon | TotalExon | Protein feature loci | *BPloci | TotalLen | Interaction lost with |
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RelatedDrugs for CSTB_PDE9A |
![]() (DrugBank Version 5.1.0 2018-04-02) |
Partner | Gene | UniProtAcc | DrugBank ID | Drug name | Drug activity | Drug type | Drug status |
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RelatedDiseases for CSTB_PDE9A |
![]() (DisGeNet 4.0) |
Partner | Gene | Disease ID | Disease name | # pubmeds | Source |
Hgene | CSTB | C0751785 | Unverricht-Lundborg Syndrome | 3 | CTD_human;ORPHANET;UNIPROT |
Hgene | CSTB | C0027626 | Neoplasm Invasiveness | 2 | CTD_human |
Hgene | CSTB | C0017636 | Glioblastoma | 1 | CTD_human |
Hgene | CSTB | C0025286 | Meningioma | 1 | CTD_human |
Hgene | CSTB | C0279626 | Squamous cell carcinoma of esophagus | 1 | CTD_human |
Tgene | PDE9A | C0005586 | Bipolar Disorder | 1 | PSYGENET |