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Fusion gene ID: 39253 |
FusionGeneSummary for TPP1_PRKAR1A |
 Fusion gene summary |
| Fusion gene information | Fusion gene name: TPP1_PRKAR1A | Fusion gene ID: 39253 | Hgene | Tgene | Gene symbol | TPP1 | PRKAR1A | Gene ID | 1200 | 5573 |
| Gene name | tripeptidyl peptidase 1 | protein kinase cAMP-dependent type I regulatory subunit alpha | |
| Synonyms | CLN2|GIG1|LPIC|SCAR7|TPP-1 | ACRDYS1|ADOHR|CAR|CNC|CNC1|PKR1|PPNAD1|PRKAR1|TSE1 | |
| Cytomap | 11p15.4 | 17q24.2 | |
| Type of gene | protein-coding | protein-coding | |
| Description | tripeptidyl-peptidase 1cell growth-inhibiting gene 1 proteingrowth-inhibiting protein 1lysosomal pepstatin insensitive proteasetripeptidyl aminopeptidasetripeptidyl peptidase I | cAMP-dependent protein kinase type I-alpha regulatory subunitCarney complex type 1cAMP-dependent protein kinase regulatory subunit RIalphacAMP-dependent protein kinase type I-alpha regulatory chainprotein kinase A type 1a regulatory subunitprotein ki | |
| Modification date | 20180523 | 20180523 | |
| UniProtAcc | O14773 | P10644 | |
| Ensembl transtripts involved in fusion gene | ENST00000299427, ENST00000533371, ENST00000534644, ENST00000528657, | ENST00000358598, ENST00000392711, ENST00000589228, ENST00000536854, ENST00000586397, ENST00000588188, | |
| Fusion gene scores | * DoF score | 1 X 1 X 1=1 | 6 X 8 X 4=192 |
| # samples | 1 | 8 | |
| ** MAII score | log2(1/1*10)=3.32192809488736 | log2(8/192*10)=-1.26303440583379 possibly effective Gene in Pan-Cancer Fusion Genes (peGinPCFGs). DoF>8 and MAII<0 | |
| Context | PubMed: TPP1 [Title/Abstract] AND PRKAR1A [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) |
| Gene ontology of each fusion partner gene with evidence of Inferred from Direct Assay (IDA) from Entrez |
| Partner | Gene | GO ID | GO term | PubMed ID |
| Tgene | PRKAR1A | GO:2000480 | negative regulation of cAMP-dependent protein kinase activity | 21812984 |
| 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 type | Source | Cancer type | Sample | Hgene | Hchr | Hbp | Hstrand | Tgene | Tchr | Tbp | Tstrand |
| ChiTaRS3.1 | AV751006 | TPP1 | chr11 | 6635224 | - | PRKAR1A | chr17 | 66527556 | + |
| * LD: Li Ding group's fusion gene list RV: Roel Verhaak group's fusion gene list ChiTaRs fusion database |
| 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. |
| ORF | Henst | Tenst | Hgene | Hchr | Hbp | Hstrand | Tgene | Tchr | Tbp | Tstrand |
| intron-3UTR | ENST00000299427 | ENST00000358598 | TPP1 | chr11 | 6635224 | - | PRKAR1A | chr17 | 66527556 | + |
| intron-3UTR | ENST00000299427 | ENST00000392711 | TPP1 | chr11 | 6635224 | - | PRKAR1A | chr17 | 66527556 | + |
| intron-3UTR | ENST00000299427 | ENST00000589228 | TPP1 | chr11 | 6635224 | - | PRKAR1A | chr17 | 66527556 | + |
| intron-3UTR | ENST00000299427 | ENST00000536854 | TPP1 | chr11 | 6635224 | - | PRKAR1A | chr17 | 66527556 | + |
| intron-intron | ENST00000299427 | ENST00000586397 | TPP1 | chr11 | 6635224 | - | PRKAR1A | chr17 | 66527556 | + |
| intron-intron | ENST00000299427 | ENST00000588188 | TPP1 | chr11 | 6635224 | - | PRKAR1A | chr17 | 66527556 | + |
| intron-3UTR | ENST00000533371 | ENST00000358598 | TPP1 | chr11 | 6635224 | - | PRKAR1A | chr17 | 66527556 | + |
| intron-3UTR | ENST00000533371 | ENST00000392711 | TPP1 | chr11 | 6635224 | - | PRKAR1A | chr17 | 66527556 | + |
| intron-3UTR | ENST00000533371 | ENST00000589228 | TPP1 | chr11 | 6635224 | - | PRKAR1A | chr17 | 66527556 | + |
| intron-3UTR | ENST00000533371 | ENST00000536854 | TPP1 | chr11 | 6635224 | - | PRKAR1A | chr17 | 66527556 | + |
| intron-intron | ENST00000533371 | ENST00000586397 | TPP1 | chr11 | 6635224 | - | PRKAR1A | chr17 | 66527556 | + |
| intron-intron | ENST00000533371 | ENST00000588188 | TPP1 | chr11 | 6635224 | - | PRKAR1A | chr17 | 66527556 | + |
| intron-3UTR | ENST00000534644 | ENST00000358598 | TPP1 | chr11 | 6635224 | - | PRKAR1A | chr17 | 66527556 | + |
| intron-3UTR | ENST00000534644 | ENST00000392711 | TPP1 | chr11 | 6635224 | - | PRKAR1A | chr17 | 66527556 | + |
| intron-3UTR | ENST00000534644 | ENST00000589228 | TPP1 | chr11 | 6635224 | - | PRKAR1A | chr17 | 66527556 | + |
| intron-3UTR | ENST00000534644 | ENST00000536854 | TPP1 | chr11 | 6635224 | - | PRKAR1A | chr17 | 66527556 | + |
| intron-intron | ENST00000534644 | ENST00000586397 | TPP1 | chr11 | 6635224 | - | PRKAR1A | chr17 | 66527556 | + |
| intron-intron | ENST00000534644 | ENST00000588188 | TPP1 | chr11 | 6635224 | - | PRKAR1A | chr17 | 66527556 | + |
| intron-3UTR | ENST00000528657 | ENST00000358598 | TPP1 | chr11 | 6635224 | - | PRKAR1A | chr17 | 66527556 | + |
| intron-3UTR | ENST00000528657 | ENST00000392711 | TPP1 | chr11 | 6635224 | - | PRKAR1A | chr17 | 66527556 | + |
| intron-3UTR | ENST00000528657 | ENST00000589228 | TPP1 | chr11 | 6635224 | - | PRKAR1A | chr17 | 66527556 | + |
| intron-3UTR | ENST00000528657 | ENST00000536854 | TPP1 | chr11 | 6635224 | - | PRKAR1A | chr17 | 66527556 | + |
| intron-intron | ENST00000528657 | ENST00000586397 | TPP1 | chr11 | 6635224 | - | PRKAR1A | chr17 | 66527556 | + |
| intron-intron | ENST00000528657 | ENST00000588188 | TPP1 | chr11 | 6635224 | - | PRKAR1A | chr17 | 66527556 | + |
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FusionProtFeatures for TPP1_PRKAR1A |
| Main function of each fusion partner protein. (from UniProt) |
| Hgene | Tgene |
| TPP1 | PRKAR1A |
| Lysosomal serine protease with tripeptidyl-peptidase Iactivity. May act as a non-specific lysosomal peptidase whichgenerates tripeptides from the breakdown products produced bylysosomal proteinases. Requires substrates with an unsubstitutedN-terminus (By similarity). {ECO:0000250|UniProtKB:Q9EQV6}. | Regulatory subunit of the cAMP-dependent protein kinasesinvolved in cAMP signaling in cells. {ECO:0000269|PubMed:16491121,ECO:0000269|PubMed:20215566, ECO:0000269|PubMed:26405036}. |
| Retention 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 . * 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 |
| - 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 |
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FusionGeneSequence for TPP1_PRKAR1A |
| 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 TPP1_PRKAR1A |
| Go to ChiPPI (Chimeric Protein-Protein interactions) to see the chimeric PPI interaction in . |
| Protein-protein interactors with each fusion partner protein in wild-type (BIOGRID-3.4.160) |
| Hgene | Hgene's interactors | Tgene | Tgene's interactors |
| - Retained PPIs in in-frame fusion. |
| Partner | Gene | Hbp | Tbp | ENST | Strand | BPexon | TotalExon | Protein feature loci | *BPloci | TotalLen | Still interaction with |
| - Lost PPIs in in-frame fusion. |
| Partner | Gene | Hbp | Tbp | ENST | Strand | BPexon | TotalExon | Protein feature loci | *BPloci | TotalLen | Interaction lost with |
| - Retained PPIs, but lost function due to frame-shift fusion. |
| Partner | Gene | Hbp | Tbp | ENST | Strand | BPexon | TotalExon | Protein feature loci | *BPloci | TotalLen | Interaction lost with |
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RelatedDrugs for TPP1_PRKAR1A |
| Drugs targeting genes involved in this fusion gene. (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 TPP1_PRKAR1A |
| Diseases associated with fusion partners. (DisGeNet 4.0) |
| Partner | Gene | Disease ID | Disease name | # pubmeds | Source |
| Hgene | TPP1 | C1876161 | CEROID LIPOFUSCINOSIS, NEURONAL, 2 | 15 | CTD_human;ORPHANET;UNIPROT |
| Hgene | TPP1 | C0027877 | Neuronal Ceroid-Lipofuscinoses | 2 | CTD_human |
| Hgene | TPP1 | C0002395 | Alzheimer's Disease | 1 | CTD_human |
| Hgene | TPP1 | C0033578 | Prostatic Neoplasms | 1 | CTD_human |
| Hgene | TPP1 | C1836474 | SPINOCEREBELLAR ATAXIA, AUTOSOMAL RECESSIVE 7 | 1 | ORPHANET;UNIPROT |
| Tgene | PRKAR1A | C3276228 | ACRODYSOSTOSIS 1 WITH OR WITHOUT HORMONE RESISTANCE | 6 | UNIPROT |
| Tgene | PRKAR1A | C2607929 | Carney Complex, Type 1 | 3 | ORPHANET;UNIPROT |
| Tgene | PRKAR1A | C0001627 | Congenital adrenal hyperplasia | 1 | CTD_human |
| Tgene | PRKAR1A | C0010481 | Cushing Syndrome | 1 | CTD_human |
| Tgene | PRKAR1A | C0023487 | Acute Promyelocytic Leukemia | 1 | CTD_human;ORPHANET |
| Tgene | PRKAR1A | C3887949 | Apparent mineralocorticoid excess | 1 | CTD_human |
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