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Fusion gene ID: 17504 |
FusionGeneSummary for INPP5A_CSTA |
 Fusion gene summary |
| Fusion gene information | Fusion gene name: INPP5A_CSTA | Fusion gene ID: 17504 | Hgene | Tgene | Gene symbol | INPP5A | CSTA | Gene ID | 3632 | 1475 |
| Gene name | inositol polyphosphate-5-phosphatase A | cystatin A | |
| Synonyms | 5PTASE | AREI|PSS4|STF1|STFA | |
| Cytomap | 10q26.3 | 3q21.1 | |
| Type of gene | protein-coding | protein-coding | |
| Description | type I inositol 1,4,5-trisphosphate 5-phosphatase43 kDa inositol polyphosphate 5-phophataseCTCL tumor antigen HD-CL-02InsP3 5-phosphataseinositol polyphosphate-5-phosphatase, 40kDinositol polyphosphate-5-phosphatase, 40kDainositol trisphosphate-5-ph | cystatin-Acystatin A (stefin A)cystatin AS | |
| Modification date | 20180523 | 20180523 | |
| UniProtAcc | Q14642 | P01040 | |
| Ensembl transtripts involved in fusion gene | ENST00000368594, ENST00000368593, ENST00000487614, | ENST00000264474, ENST00000479204, | |
| Fusion gene scores | * DoF score | 11 X 6 X 8=528 | 7 X 6 X 4=168 |
| # samples | 12 | 7 | |
| ** MAII score | log2(12/528*10)=-2.13750352374993 possibly effective Gene in Pan-Cancer Fusion Genes (peGinPCFGs). DoF>8 and MAII<0 | log2(7/168*10)=-1.26303440583379 possibly effective Gene in Pan-Cancer Fusion Genes (peGinPCFGs). DoF>8 and MAII<0 | |
| Context | PubMed: INPP5A [Title/Abstract] AND CSTA [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 | CSTA | GO:0010466 | negative regulation of peptidase activity | 6203523 |
| Tgene | CSTA | GO:0018149 | peptide cross-linking | 10908733 |
| Tgene | CSTA | GO:0030216 | keratinocyte differentiation | 10908733 |
| Tgene | CSTA | GO:0045861 | negative regulation of proteolysis | 3488317 |
| 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 | RV | KIRC | TCGA-BP-4774-01A | INPP5A | chr10 | 134563349 | + | CSTA | chr3 | 122056394 | + |
| * 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 |
| In-frame | ENST00000368594 | ENST00000264474 | INPP5A | chr10 | 134563349 | + | CSTA | chr3 | 122056394 | + |
| Frame-shift | ENST00000368594 | ENST00000479204 | INPP5A | chr10 | 134563349 | + | CSTA | chr3 | 122056394 | + |
| In-frame | ENST00000368593 | ENST00000264474 | INPP5A | chr10 | 134563349 | + | CSTA | chr3 | 122056394 | + |
| Frame-shift | ENST00000368593 | ENST00000479204 | INPP5A | chr10 | 134563349 | + | CSTA | chr3 | 122056394 | + |
| intron-3CDS | ENST00000487614 | ENST00000264474 | INPP5A | chr10 | 134563349 | + | CSTA | chr3 | 122056394 | + |
| intron-3CDS | ENST00000487614 | ENST00000479204 | INPP5A | chr10 | 134563349 | + | CSTA | chr3 | 122056394 | + |
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FusionProtFeatures for INPP5A_CSTA |
| Main function of each fusion partner protein. (from UniProt) |
| Hgene | Tgene |
| INPP5A | CSTA |
| Major isoenzyme hydrolyzing the calcium-mobilizingsecond messenger Ins(1,4,5)P3, this is a signal-terminatingreaction. | This is an intracellular thiol proteinase inhibitor. Hasan important role in desmosome-mediated cell-cell adhesion in thelower levels of the epidermis. {ECO:0000269|PubMed:21944047}. |
| 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 |
| Tgene | >CSTA | chr10:134563349 | chr3:122056394 | ENST00000264474 | + | 0 | 3 | 46_50 | 22 | 99 | Motif | Note=Secondary area of contact |
| - 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 INPP5A_CSTA |
| 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_INPP5A_ENST00000368594_chr10_134563349_+_CSTA_ENST00000264474_chr3_122056394_+_378aa MAGKAAAPGTAVLLVTANVGSLFDDPENLQKNWLREFYQVVHTHKPHFMALHCQEFGGKNYEASMSHVDKFVKELLSSDAMKEYNRARVY LDENYKSQEHFTALGSFYFLHESLKNIYQFDFKAKKYRKVAGKEIYSDTLESTPMLEKEKFPQDYFPECKWSRKGFIRTRWCIADCAFDL VNIHLFHDASNLVAWETSPSVYSGIRHKALGYVLDRIIDQRFEKVSYFVFGDFNFRLDSKSVVETLCTKATMQTVRAADTNEVVKLIFRE SDNDRKVMLQLEKKLFDYFNQEVFRDNNGTAVKPQLEEKTNETYGKLEAVQYKTQVVAGTNYYIKVRAGDNKYMHLKVFKSLPGQNEDLV >In-frame_INPP5A_ENST00000368593_chr10_134563349_+_CSTA_ENST00000264474_chr3_122056394_+_378aa MAGKAAAPGTAVLLVTANVGSLFDDPENLQKNWLREFYQVVHTHKPHFMALHCQEFGGKNYEASMSHVDKFVKELLSSDAMKEYNRARVY LDENYKSQEHFTALGSFYFLHESLKNIYQFDFKAKKYRKVAGKEIYSDTLESTPMLEKEKFPQDYFPECKWSRKGFIRTRWCIADCAFDL VNIHLFHDASNLVAWETSPSVYSGIRHKALGYVLDRIIDQRFEKVSYFVFGDFNFRLDSKSVVETLCTKATMQTVRAADTNEVVKLIFRE SDNDRKVMLQLEKKLFDYFNQEVFRDNNGTAVKPQLEEKTNETYGKLEAVQYKTQVVAGTNYYIKVRAGDNKYMHLKVFKSLPGQNEDLV |
| * Fusion transcript sequences (only coding sequence (CDS) region). |
| >In-frame_INPP5A_ENST00000368594_chr10_134563349_+_CSTA_ENST00000264474_chr3_122056394_+_1134nt ATGGCGGGGAAGGCGGCCGCCCCGGGCACCGCGGTGCTGCTGGTCACGGCCAACGTGGGCTCGCTCTTCGACGACCCAGAAAACCTGCAG AAGAACTGGCTTCGGGAATTTTACCAGGTCGTGCACACACACAAGCCGCACTTCATGGCCTTGCACTGTCAGGAGTTTGGAGGGAAGAAC TACGAGGCCTCCATGTCCCACGTGGACAAGTTCGTCAAAGAACTATTGTCGAGTGATGCGATGAAAGAATATAACAGGGCTCGAGTCTAC CTGGATGAAAACTACAAATCCCAGGAGCACTTCACGGCACTAGGAAGCTTTTATTTTCTTCATGAGTCCTTAAAAAACATCTACCAGTTT GACTTTAAAGCTAAGAAGTATAGAAAGGTCGCTGGCAAAGAGATCTACTCGGATACCTTAGAGAGCACGCCCATGCTGGAGAAGGAGAAG TTTCCGCAGGACTACTTCCCCGAGTGCAAATGGTCAAGAAAAGGCTTCATCCGGACGAGGTGGTGCATTGCAGACTGTGCCTTTGACTTG GTGAATATCCATCTTTTCCATGATGCTTCCAATCTGGTCGCCTGGGAAACAAGCCCTTCCGTGTACTCGGGAATCCGGCACAAGGCACTG GGCTACGTGCTGGACAGAATCATTGATCAGCGATTCGAGAAGGTTTCCTACTTTGTATTTGGTGATTTCAACTTCCGGCTGGATTCCAAG TCCGTCGTGGAGACGCTCTGCACAAAAGCCACCATGCAGACGGTCCGGGCCGCCGACACCAATGAAGTGGTGAAGCTCATATTTCGTGAG TCGGACAACGACCGGAAGGTTATGCTCCAGTTAGAAAAGAAACTCTTCGACTACTTCAACCAGGAGGTTTTCCGAGACAACAACGGCACC GCGGTTAAACCACAGCTTGAAGAAAAAACAAATGAGACTTACGGAAAATTGGAAGCTGTGCAGTATAAAACTCAAGTTGTTGCTGGAACA AATTACTACATTAAGGTACGAGCAGGTGATAATAAATATATGCACTTGAAAGTATTCAAAAGTCTTCCCGGACAAAATGAGGACTTGGTA >In-frame_INPP5A_ENST00000368593_chr10_134563349_+_CSTA_ENST00000264474_chr3_122056394_+_1134nt ATGGCGGGGAAGGCGGCCGCCCCGGGCACCGCGGTGCTGCTGGTCACGGCCAACGTGGGCTCGCTCTTCGACGACCCAGAAAACCTGCAG AAGAACTGGCTTCGGGAATTTTACCAGGTCGTGCACACACACAAGCCGCACTTCATGGCCTTGCACTGTCAGGAGTTTGGAGGGAAGAAC TACGAGGCCTCCATGTCCCACGTGGACAAGTTCGTCAAAGAACTATTGTCGAGTGATGCGATGAAAGAATATAACAGGGCTCGAGTCTAC CTGGATGAAAACTACAAATCCCAGGAGCACTTCACGGCACTAGGAAGCTTTTATTTTCTTCATGAGTCCTTAAAAAACATCTACCAGTTT GACTTTAAAGCTAAGAAGTATAGAAAGGTCGCTGGCAAAGAGATCTACTCGGATACCTTAGAGAGCACGCCCATGCTGGAGAAGGAGAAG TTTCCGCAGGACTACTTCCCCGAGTGCAAATGGTCAAGAAAAGGCTTCATCCGGACGAGGTGGTGCATTGCAGACTGTGCCTTTGACTTG GTGAATATCCATCTTTTCCATGATGCTTCCAATCTGGTCGCCTGGGAAACAAGCCCTTCCGTGTACTCGGGAATCCGGCACAAGGCACTG GGCTACGTGCTGGACAGAATCATTGATCAGCGATTCGAGAAGGTTTCCTACTTTGTATTTGGTGATTTCAACTTCCGGCTGGATTCCAAG TCCGTCGTGGAGACGCTCTGCACAAAAGCCACCATGCAGACGGTCCGGGCCGCCGACACCAATGAAGTGGTGAAGCTCATATTTCGTGAG TCGGACAACGACCGGAAGGTTATGCTCCAGTTAGAAAAGAAACTCTTCGACTACTTCAACCAGGAGGTTTTCCGAGACAACAACGGCACC GCGGTTAAACCACAGCTTGAAGAAAAAACAAATGAGACTTACGGAAAATTGGAAGCTGTGCAGTATAAAACTCAAGTTGTTGCTGGAACA AATTACTACATTAAGGTACGAGCAGGTGATAATAAATATATGCACTTGAAAGTATTCAAAAGTCTTCCCGGACAAAATGAGGACTTGGTA |
| * Fusion transcript sequences (Full-length transcript). |
| >In-frame_INPP5A_ENST00000368594_chr10_134563349_+_CSTA_ENST00000264474_chr3_122056394_+_1816nt GGAACTTTCCCAGCGGATCTAATGGCTGCGCGCGGGCCGCTGTGAGGCGCGGCGGCGAGCGACGGGCGCGGGGCCGCGGAGCAGCGAGCG AGCGAGCGAGCGCGAGGCCGGAGCCCCGGCCAGGCCCGGCCGACCCGCCGAGCCCGCGATGCGCCCCGGGGCCGCCCCCCGGCGCAGCTG ACGCCCCGCGGCCCCGCGAAGACCCCGGCCGGCCGGTCCCGGAGGAAGCGGCCGCCGCCGCCGCCGCCCAGCCCAGCGCCCGCGCCGCCC GGGCACCATGGCGGGGAAGGCGGCCGCCCCGGGCACCGCGGTGCTGCTGGTCACGGCCAACGTGGGCTCGCTCTTCGACGACCCAGAAAA CCTGCAGAAGAACTGGCTTCGGGAATTTTACCAGGTCGTGCACACACACAAGCCGCACTTCATGGCCTTGCACTGTCAGGAGTTTGGAGG GAAGAACTACGAGGCCTCCATGTCCCACGTGGACAAGTTCGTCAAAGAACTATTGTCGAGTGATGCGATGAAAGAATATAACAGGGCTCG AGTCTACCTGGATGAAAACTACAAATCCCAGGAGCACTTCACGGCACTAGGAAGCTTTTATTTTCTTCATGAGTCCTTAAAAAACATCTA CCAGTTTGACTTTAAAGCTAAGAAGTATAGAAAGGTCGCTGGCAAAGAGATCTACTCGGATACCTTAGAGAGCACGCCCATGCTGGAGAA GGAGAAGTTTCCGCAGGACTACTTCCCCGAGTGCAAATGGTCAAGAAAAGGCTTCATCCGGACGAGGTGGTGCATTGCAGACTGTGCCTT TGACTTGGTGAATATCCATCTTTTCCATGATGCTTCCAATCTGGTCGCCTGGGAAACAAGCCCTTCCGTGTACTCGGGAATCCGGCACAA GGCACTGGGCTACGTGCTGGACAGAATCATTGATCAGCGATTCGAGAAGGTTTCCTACTTTGTATTTGGTGATTTCAACTTCCGGCTGGA TTCCAAGTCCGTCGTGGAGACGCTCTGCACAAAAGCCACCATGCAGACGGTCCGGGCCGCCGACACCAATGAAGTGGTGAAGCTCATATT TCGTGAGTCGGACAACGACCGGAAGGTTATGCTCCAGTTAGAAAAGAAACTCTTCGACTACTTCAACCAGGAGGTTTTCCGAGACAACAA CGGCACCGCGGTTAAACCACAGCTTGAAGAAAAAACAAATGAGACTTACGGAAAATTGGAAGCTGTGCAGTATAAAACTCAAGTTGTTGC TGGAACAAATTACTACATTAAGGTACGAGCAGGTGATAATAAATATATGCACTTGAAAGTATTCAAAAGTCTTCCCGGACAAAATGAGGA CTTGGTACTTACTGGATACCAGGTTGACAAAAACAAGGATGACGAGCTGACGGGCTTTTAGCAGCATGTACCCAAAGTGTTCTGATTCCT TCAACTGGCTACTGAGTCATGATCCTTGCTGATAAATATAACCATCAATAAAGAAGCATTCTTTTCCAAAGAAATTATTTCTTCAATTAT TTCTCATTTATTGTATTAAGCAGAAATTACCTTTTCTTTCTCAAAATCAGTGTTATTGCTTTAGAGTATAAACTCCATATAAATTGATGG CAATTGGAAATCTTATAAAAACTAGTCAAGCCTAATGCAACTGGCTAAAGGATAGTACCACCCTCACCCCCACCATAGGCAGGCTGGATC GTGGACTATCAATTCACCAGCCTCCTTGTTCCCTGTGGCTGCTGATAACCCAACATTCCATCTCTACCCTCATACTTCAAAATTAAATCA >In-frame_INPP5A_ENST00000368593_chr10_134563349_+_CSTA_ENST00000264474_chr3_122056394_+_1787nt GCGCGGGCCGCTGTGAGGCGCGGCGGCGAGCGACGGGCGCGGGGCCGCGGAGCAGCGAGCGAGCGAGCGAGCGCGAGGCCGGAGCCCCGG CCAGGCCCGGCCGACCCGCCGAGCCCGCGATGCGCCCCGGGGCCGCCCCCCGGCGCAGCTGACGCCCCGCGGCCCCGCGAAGACCCCGGC CGGCCGGTCCCGGAGGAAGCGGCCGCCGCCGCCGCCGCCCAGCCCAGCGCCCGCGCCGCCCGGGCACCATGGCGGGGAAGGCGGCCGCCC CGGGCACCGCGGTGCTGCTGGTCACGGCCAACGTGGGCTCGCTCTTCGACGACCCAGAAAACCTGCAGAAGAACTGGCTTCGGGAATTTT ACCAGGTCGTGCACACACACAAGCCGCACTTCATGGCCTTGCACTGTCAGGAGTTTGGAGGGAAGAACTACGAGGCCTCCATGTCCCACG TGGACAAGTTCGTCAAAGAACTATTGTCGAGTGATGCGATGAAAGAATATAACAGGGCTCGAGTCTACCTGGATGAAAACTACAAATCCC AGGAGCACTTCACGGCACTAGGAAGCTTTTATTTTCTTCATGAGTCCTTAAAAAACATCTACCAGTTTGACTTTAAAGCTAAGAAGTATA GAAAGGTCGCTGGCAAAGAGATCTACTCGGATACCTTAGAGAGCACGCCCATGCTGGAGAAGGAGAAGTTTCCGCAGGACTACTTCCCCG AGTGCAAATGGTCAAGAAAAGGCTTCATCCGGACGAGGTGGTGCATTGCAGACTGTGCCTTTGACTTGGTGAATATCCATCTTTTCCATG ATGCTTCCAATCTGGTCGCCTGGGAAACAAGCCCTTCCGTGTACTCGGGAATCCGGCACAAGGCACTGGGCTACGTGCTGGACAGAATCA TTGATCAGCGATTCGAGAAGGTTTCCTACTTTGTATTTGGTGATTTCAACTTCCGGCTGGATTCCAAGTCCGTCGTGGAGACGCTCTGCA CAAAAGCCACCATGCAGACGGTCCGGGCCGCCGACACCAATGAAGTGGTGAAGCTCATATTTCGTGAGTCGGACAACGACCGGAAGGTTA TGCTCCAGTTAGAAAAGAAACTCTTCGACTACTTCAACCAGGAGGTTTTCCGAGACAACAACGGCACCGCGGTTAAACCACAGCTTGAAG AAAAAACAAATGAGACTTACGGAAAATTGGAAGCTGTGCAGTATAAAACTCAAGTTGTTGCTGGAACAAATTACTACATTAAGGTACGAG CAGGTGATAATAAATATATGCACTTGAAAGTATTCAAAAGTCTTCCCGGACAAAATGAGGACTTGGTACTTACTGGATACCAGGTTGACA AAAACAAGGATGACGAGCTGACGGGCTTTTAGCAGCATGTACCCAAAGTGTTCTGATTCCTTCAACTGGCTACTGAGTCATGATCCTTGC TGATAAATATAACCATCAATAAAGAAGCATTCTTTTCCAAAGAAATTATTTCTTCAATTATTTCTCATTTATTGTATTAAGCAGAAATTA CCTTTTCTTTCTCAAAATCAGTGTTATTGCTTTAGAGTATAAACTCCATATAAATTGATGGCAATTGGAAATCTTATAAAAACTAGTCAA GCCTAATGCAACTGGCTAAAGGATAGTACCACCCTCACCCCCACCATAGGCAGGCTGGATCGTGGACTATCAATTCACCAGCCTCCTTGT |
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FusionGenePPI for INPP5A_CSTA |
| 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 |
| INPP5A | YWHAZ, RABGGTB, TTC1, RCCD1, ZG16B, ITFG2, IGHA1, SLC25A41, DUSP22, ISOC2, MED21, PRPS2 | CSTA | CTSB, CTSL, CTSH, PI3, KRT1, LOR, DSP, IVL, CSTA, USP53, UCHL5, RAD21, TCF3, CUL4B, CUL2, CDK2, METTL23, CEP57, ZDHHC17, TCTN3, RASSF9, RASSF10, HERC2, FOXR1, MCM2, EGFR, ZIC1, CYLD |
| - 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 INPP5A_CSTA |
| 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 INPP5A_CSTA |
| Diseases associated with fusion partners. (DisGeNet 4.0) |
| Partner | Gene | Disease ID | Disease name | # pubmeds | Source |
| Hgene | INPP5A | C0007137 | Squamous cell carcinoma | 1 | CTD_human |
| Hgene | INPP5A | C0036341 | Schizophrenia | 1 | CTD_human |
| Hgene | INPP5A | C0037274 | Dermatologic disorders | 1 | CTD_human |
| Hgene | INPP5A | C0311375 | Arsenic Poisoning | 1 | CTD_human |
| Tgene | CSTA | C0017636 | Glioblastoma | 1 | CTD_human |
| Tgene | CSTA | C0027627 | Neoplasm Metastasis | 1 | CTD_human |
| Tgene | CSTA | C2931822 | Nasopharyngeal carcinoma | 1 | CTD_human |
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