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Fusion gene ID: 8889 |
FusionGeneSummary for CTSA_C1orf61 |
 Fusion gene summary |
| Fusion gene information | Fusion gene name: CTSA_C1orf61 | Fusion gene ID: 8889 | Hgene | Tgene | Gene symbol | CTSA | C1orf61 | Gene ID | 5476 | 10485 |
| Gene name | cathepsin A | chromosome 1 open reading frame 61 | |
| Synonyms | GLB2|GSL|NGBE|PPCA|PPGB | CROC4 | |
| Cytomap | 20q13.12 | 1q22 | |
| Type of gene | protein-coding | protein-coding | |
| Description | lysosomal protective proteinbeta-galactosidase 2beta-galactosidase protective proteincarboxypeptidase Ccarboxypeptidase Y-like kininasecarboxypeptidase-Ldeamidaselysosomal carboxypeptidase Aprotective protein cathepsin Aurinary kininase | protein CROC-4contingent replication of cDNA 4transcriptional activator of the c-fos promoter | |
| Modification date | 20180523 | 20180329 | |
| UniProtAcc | P10619 | Q13536 | |
| Ensembl transtripts involved in fusion gene | ENST00000372484, ENST00000354880, ENST00000191018, ENST00000372459, | ENST00000488498, ENST00000368243, | |
| Fusion gene scores | * DoF score | 4 X 3 X 3=36 | 9 X 6 X 6=324 |
| # samples | 5 | 11 | |
| ** MAII score | log2(5/36*10)=0.473931188332412 effective Gene in Pan-Cancer Fusion Genes (eGinPCFGs). DoF>8 and MAII>0 | log2(11/324*10)=-1.55849028935997 possibly effective Gene in Pan-Cancer Fusion Genes (peGinPCFGs). DoF>8 and MAII<0 | |
| Context | PubMed: CTSA [Title/Abstract] AND C1orf61 [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 |
| Hgene | CTSA | GO:0006508 | proteolysis | 12505983 |
| Tgene | C1orf61 | GO:0045944 | positive regulation of transcription by RNA polymerase II | 10995546 |
| 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 |
| TCGA | LD | GBM | TCGA-06-A6S0-01A | CTSA | chr20 | 44523772 | + | C1orf61 | chr1 | 156374393 | - |
| * 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 |
| 5CDS-5UTR | ENST00000372484 | ENST00000488498 | CTSA | chr20 | 44523772 | + | C1orf61 | chr1 | 156374393 | - |
| 5CDS-5UTR | ENST00000372484 | ENST00000368243 | CTSA | chr20 | 44523772 | + | C1orf61 | chr1 | 156374393 | - |
| 5CDS-5UTR | ENST00000354880 | ENST00000488498 | CTSA | chr20 | 44523772 | + | C1orf61 | chr1 | 156374393 | - |
| 5CDS-5UTR | ENST00000354880 | ENST00000368243 | CTSA | chr20 | 44523772 | + | C1orf61 | chr1 | 156374393 | - |
| 5CDS-5UTR | ENST00000191018 | ENST00000488498 | CTSA | chr20 | 44523772 | + | C1orf61 | chr1 | 156374393 | - |
| 5CDS-5UTR | ENST00000191018 | ENST00000368243 | CTSA | chr20 | 44523772 | + | C1orf61 | chr1 | 156374393 | - |
| 5CDS-5UTR | ENST00000372459 | ENST00000488498 | CTSA | chr20 | 44523772 | + | C1orf61 | chr1 | 156374393 | - |
| 5CDS-5UTR | ENST00000372459 | ENST00000368243 | CTSA | chr20 | 44523772 | + | C1orf61 | chr1 | 156374393 | - |
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FusionProtFeatures for CTSA_C1orf61 |
| Main function of each fusion partner protein. (from UniProt) |
| Hgene | Tgene |
| CTSA | C1orf61 |
| Protective protein appears to be essential for both theactivity of beta-galactosidase and neuraminidase, it associateswith these enzymes and exerts a protective function necessary fortheir stability and activity. This protein is also acarboxypeptidase and can deamidate tachykinins.{ECO:0000269|PubMed:1907282}. | May play a role in FOS signaling pathways involved indevelopment and remodeling of neurons. Promotes transcription ofthe FOS promoter. {ECO:0000269|PubMed:10995546}. |
| 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 CTSA_C1orf61 |
| 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 CTSA_C1orf61 |
| 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 |
| CTSA | CTNNBIP1, NEU1, CTSD, RAB2A, PLAUR, SUMO2, OAT, BAG3, FBXO6, ABHD14A, ASS1, BZW2, CASP7, FTO, GINS2, MVD, NAMPT, PEPD, MEPCE, ABCE1, CDK2, DNAJB2, PVRL4, APOA1BP, TIMM9, TRNT1, VAPA, KLHDC9, SFXN5, RHOA, RORC, RHOC, YPEL5, GLB1, VIM, LMNA | C1orf61 |
| - 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 CTSA_C1orf61 |
| 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 CTSA_C1orf61 |
| Diseases associated with fusion partners. (DisGeNet 4.0) |
| Partner | Gene | Disease ID | Disease name | # pubmeds | Source |
| Hgene | CTSA | C0268233 | GALACTOSIALIDOSIS | 3 | CTD_human;ORPHANET;UNIPROT |
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