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Fusion gene ID: 1962 |
FusionGeneSummary for ANP32E_CTSK |
Fusion gene summary |
Fusion gene information | Fusion gene name: ANP32E_CTSK | Fusion gene ID: 1962 | Hgene | Tgene | Gene symbol | ANP32E | CTSK | Gene ID | 81611 | 1513 |
Gene name | acidic nuclear phosphoprotein 32 family member E | cathepsin K | |
Synonyms | LANP-L|LANPL | CTS02|CTSO|CTSO1|CTSO2|PKND|PYCD | |
Cytomap | 1q21.2 | 1q21.3 | |
Type of gene | protein-coding | protein-coding | |
Description | acidic leucine-rich nuclear phosphoprotein 32 family member ELANP-like proteinacidic (leucine-rich) nuclear phosphoprotein 32 family, member Eleucine-rich acidic nuclear protein like | cathepsin Kcathepsin Ocathepsin O1cathepsin O2cathepsin X | |
Modification date | 20180523 | 20180523 | |
UniProtAcc | Q9BTT0 | P43235 | |
Ensembl transtripts involved in fusion gene | ENST00000314136, ENST00000369119, ENST00000369116, ENST00000436748, ENST00000369114, ENST00000369115, ENST00000533654, | ENST00000271651, ENST00000480670, | |
Fusion gene scores | * DoF score | 3 X 3 X 2=18 | 2 X 3 X 2=12 |
# samples | 3 | 3 | |
** MAII score | log2(3/18*10)=0.736965594166206 effective Gene in Pan-Cancer Fusion Genes (eGinPCFGs). DoF>8 and MAII>0 | log2(3/12*10)=1.32192809488736 effective Gene in Pan-Cancer Fusion Genes (eGinPCFGs). DoF>8 and MAII>0 | |
Context | PubMed: ANP32E [Title/Abstract] AND CTSK [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 | ANP32E | GO:0043486 | histone exchange | 24463511 |
Tgene | CTSK | GO:0030574 | collagen catabolic process | 22952693 |
Tgene | CTSK | GO:0051603 | proteolysis involved in cellular protein catabolic process | 22952693 |
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 | OV | TCGA-61-1918-01A | ANP32E | chr1 | 150202906 | - | CTSK | chr1 | 150769374 | - |
* 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 |
Frame-shift | ENST00000314136 | ENST00000271651 | ANP32E | chr1 | 150202906 | - | CTSK | chr1 | 150769374 | - |
5CDS-intron | ENST00000314136 | ENST00000480670 | ANP32E | chr1 | 150202906 | - | CTSK | chr1 | 150769374 | - |
Frame-shift | ENST00000369119 | ENST00000271651 | ANP32E | chr1 | 150202906 | - | CTSK | chr1 | 150769374 | - |
5CDS-intron | ENST00000369119 | ENST00000480670 | ANP32E | chr1 | 150202906 | - | CTSK | chr1 | 150769374 | - |
intron-3CDS | ENST00000369116 | ENST00000271651 | ANP32E | chr1 | 150202906 | - | CTSK | chr1 | 150769374 | - |
intron-intron | ENST00000369116 | ENST00000480670 | ANP32E | chr1 | 150202906 | - | CTSK | chr1 | 150769374 | - |
intron-3CDS | ENST00000436748 | ENST00000271651 | ANP32E | chr1 | 150202906 | - | CTSK | chr1 | 150769374 | - |
intron-intron | ENST00000436748 | ENST00000480670 | ANP32E | chr1 | 150202906 | - | CTSK | chr1 | 150769374 | - |
Frame-shift | ENST00000369114 | ENST00000271651 | ANP32E | chr1 | 150202906 | - | CTSK | chr1 | 150769374 | - |
5CDS-intron | ENST00000369114 | ENST00000480670 | ANP32E | chr1 | 150202906 | - | CTSK | chr1 | 150769374 | - |
intron-3CDS | ENST00000369115 | ENST00000271651 | ANP32E | chr1 | 150202906 | - | CTSK | chr1 | 150769374 | - |
intron-intron | ENST00000369115 | ENST00000480670 | ANP32E | chr1 | 150202906 | - | CTSK | chr1 | 150769374 | - |
Frame-shift | ENST00000533654 | ENST00000271651 | ANP32E | chr1 | 150202906 | - | CTSK | chr1 | 150769374 | - |
5CDS-intron | ENST00000533654 | ENST00000480670 | ANP32E | chr1 | 150202906 | - | CTSK | chr1 | 150769374 | - |
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FusionProtFeatures for ANP32E_CTSK |
Main function of each fusion partner protein. (from UniProt) |
Hgene | Tgene |
ANP32E | CTSK |
Histone chaperone that specifically mediates the genome-wide removal of histone H2A.Z/H2AFZ from the nucleosome: removesH2A.Z/H2AFZ from its normal sites of deposition, especially fromenhancer and insulator regions. Not involved in deposition ofH2A.Z/H2AFZ in the nucleosome. May stabilize the evictedH2A.Z/H2AFZ-H2B dimer, thus shifting the equilibrium towardsdissociation and the off-chromatin state (PubMed:24463511).Inhibits activity of protein phosphatase 2A (PP2A). Does notinhibit protein phosphatase 1. May play a role in cerebellardevelopment and synaptogenesis. {ECO:0000269|PubMed:24463511}. | Closely involved in osteoclastic bone resorption and mayparticipate partially in the disorder of bone remodeling. Displayspotent endoprotease activity against fibrinogen at acid pH. Mayplay an important role in extracellular matrix degradation. |
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 ANP32E_CTSK |
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 ANP32E_CTSK |
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 |
ANP32E | MEPCE, MGMT, UCHL5, PARD3, FYTTD1, RPS2, SOX2, FOS, SMAD2, ATG7, ATP6V1C1, RDX, RNASEH2B, SARS, VPS35, SNX2, SNX6, HIST1H2BA, UNK, AHCYL1, AHCYL2, ANP32A, TPI1, DMAP1, PAPPA, VPS72, EWSR1, KPNA1, UBA5, PTPN2, UBC, TRIM25, G3BP1, TES | CTSK | FGFR3, SERPINB3, LIG4, ARID4B, ERBB2IP, CTSV, C18orf25, CTSL |
- 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 ANP32E_CTSK |
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 ANP32E_CTSK |
Diseases associated with fusion partners. (DisGeNet 4.0) |
Partner | Gene | Disease ID | Disease name | # pubmeds | Source |
Tgene | CTSK | C0238402 | Pycnodysostosis | 5 | CTD_human;ORPHANET;UNIPROT |
Tgene | CTSK | C0036341 | Schizophrenia | 2 | PSYGENET |
Tgene | CTSK | C0017636 | Glioblastoma | 1 | CTD_human |