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Fusion gene ID: 26064 |
FusionGeneSummary for PAWR_CLEC2A |
 Fusion gene summary |
| Fusion gene information | Fusion gene name: PAWR_CLEC2A | Fusion gene ID: 26064 | Hgene | Tgene | Gene symbol | PAWR | CLEC2A | Gene ID | 5074 | 387836 |
| Gene name | pro-apoptotic WT1 regulator | C-type lectin domain family 2 member A | |
| Synonyms | PAR4|Par-4 | INPE5792|KACL|PILAR|UNQ5792 | |
| Cytomap | 12q21.2 | 12p13.31 | |
| Type of gene | protein-coding | protein-coding | |
| Description | PRKC apoptosis WT1 regulator proteinPRKC, apoptosis, WT1, regulatorWT1-interacting proteinprostate apoptosis response protein 4prostate apoptosis response protein PAR-4prostate apoptosis response-4transcriptional repressor PAR4 | C-type lectin domain family 2 member Akeratinocyte-associated C-type lectinproliferation-induced lymphocyte-associated receptor | |
| Modification date | 20180523 | 20180329 | |
| UniProtAcc | Q96IZ0 | Q6UVW9 | |
| Ensembl transtripts involved in fusion gene | ENST00000328827, ENST00000547571, | ENST00000339766, ENST00000455827, | |
| Fusion gene scores | * DoF score | 4 X 1 X 3=12 | 5 X 3 X 4=60 |
| # samples | 4 | 4 | |
| ** MAII score | log2(4/12*10)=1.73696559416621 effective Gene in Pan-Cancer Fusion Genes (eGinPCFGs). DoF>8 and MAII>0 | log2(4/60*10)=-0.584962500721156 possibly effective Gene in Pan-Cancer Fusion Genes (peGinPCFGs). DoF>8 and MAII<0 | |
| Context | PubMed: PAWR [Title/Abstract] AND CLEC2A [Title/Abstract] AND fusion [Title/Abstract] | ||
| Functional or gene categories assigned by FusionGDB annotation | Tumor suppressor gene involved fusion gene, in-frame but not retained their domain. | ||
| * 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 |
| 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 | BRCA | TCGA-D8-A27W-01A | PAWR | chr12 | 80083509 | - | CLEC2A | chr12 | 10069402 | - |
| * 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 | ENST00000328827 | ENST00000339766 | PAWR | chr12 | 80083509 | - | CLEC2A | chr12 | 10069402 | - |
| In-frame | ENST00000328827 | ENST00000455827 | PAWR | chr12 | 80083509 | - | CLEC2A | chr12 | 10069402 | - |
| 5UTR-3CDS | ENST00000547571 | ENST00000339766 | PAWR | chr12 | 80083509 | - | CLEC2A | chr12 | 10069402 | - |
| 5UTR-3CDS | ENST00000547571 | ENST00000455827 | PAWR | chr12 | 80083509 | - | CLEC2A | chr12 | 10069402 | - |
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FusionProtFeatures for PAWR_CLEC2A |
| Main function of each fusion partner protein. (from UniProt) |
| Hgene | Tgene |
| PAWR | CLEC2A |
| Pro-apoptopic protein capable of selectively inducingapoptosis in cancer cells, sensitizing the cells to diverseapoptotic stimuli and causing regression of tumors in animalmodels. Induces apoptosis in certain cancer cells by activation ofthe Fas prodeath pathway and coparallel inhibition of NF-kappa-Btranscriptional activity. Inhibits the transcriptional activationand augments the transcriptional repression mediated by WT1. Down-regulates the anti-apoptotic protein BCL2 via its interaction withWT1. Seems also to be a transcriptional repressor by itself. Maybe directly involved in regulating the amyloid precursor protein(APP) cleavage activity of BACE1. {ECO:0000269|PubMed:11585763}. | Plays a role in modulating the extent of T-cellexpansion. Enhances the expansion of TCR-stimulated T-cells byincreasing their survival through enhanced expression of anti-apoptotic proteins. May modulate the capacity of T-cells to hometo lymph nodes through SELL. Facilitates dedicated immunerecognition of keratinocytes via interaction with its receptorKLRF2 by stimulating natural killer cell mediated cytotoxicity.{ECO:0000269|PubMed:18550855, ECO:0000269|PubMed:20194751}. |
| 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 |
| Hgene | PAWR | chr12:80083509 | chr12:10069402 | ENST00000328827 | - | 2 | 7 | 49_120 | 172 | 341 | Compositional bias | Note=Ala-rich |
| Hgene | PAWR | chr12:80083509 | chr12:10069402 | ENST00000328827 | - | 2 | 7 | 145_161 | 172 | 341 | Motif | Nuclear localization signal |
| Hgene | PAWR | chr12:80083509 | chr12:10069402 | ENST00000328827 | - | 2 | 7 | 68_72 | 172 | 341 | Motif | B30.2/SPRY domain-binding motif |
| - 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 | >PAWR | chr12:80083509 | chr12:10069402 | ENST00000328827 | - | 2 | 7 | 186_206 | 172 | 341 | Coiled coil | Ontology_term=ECO:0000255 |
| Hgene | >PAWR | chr12:80083509 | chr12:10069402 | ENST00000328827 | - | 2 | 7 | 145_203 | 172 | 341 | Region | Note=Selective for apoptosis induction in cancer cells (SAC) |
| Hgene | >PAWR | chr12:80083509 | chr12:10069402 | ENST00000328827 | - | 2 | 7 | 300_340 | 172 | 341 | Region | Note=Leucine-zipper |
| Tgene | CLEC2A | chr12:80083509 | chr12:10069402 | ENST00000339766 | - | 2 | 5 | 65_174 | 102 | 161 | Domain | C-type lectin |
| Tgene | CLEC2A | chr12:80083509 | chr12:10069402 | ENST00000455827 | - | 2 | 5 | 65_174 | 102 | 175 | Domain | C-type lectin |
| Tgene | CLEC2A | chr12:80083509 | chr12:10069402 | ENST00000339766 | - | 2 | 5 | 1_27 | 102 | 161 | Topological domain | Cytoplasmic |
| Tgene | CLEC2A | chr12:80083509 | chr12:10069402 | ENST00000339766 | - | 2 | 5 | 49_174 | 102 | 161 | Topological domain | Extracellular |
| Tgene | CLEC2A | chr12:80083509 | chr12:10069402 | ENST00000455827 | - | 2 | 5 | 1_27 | 102 | 175 | Topological domain | Cytoplasmic |
| Tgene | CLEC2A | chr12:80083509 | chr12:10069402 | ENST00000455827 | - | 2 | 5 | 49_174 | 102 | 175 | Topological domain | Extracellular |
| Tgene | CLEC2A | chr12:80083509 | chr12:10069402 | ENST00000339766 | - | 2 | 5 | 28_48 | 102 | 161 | Transmembrane | Helical%3B Signal-anchor for type II membrane protein |
| Tgene | CLEC2A | chr12:80083509 | chr12:10069402 | ENST00000455827 | - | 2 | 5 | 28_48 | 102 | 175 | Transmembrane | Helical%3B Signal-anchor for type II membrane protein |
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FusionGeneSequence for PAWR_CLEC2A |
| 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_PAWR_ENST00000328827_chr12_80083509_-_CLEC2A_ENST00000339766_chr12_10069402_-_231aa MATGGYRTSSGLGGSTTDFLEEWKAKREKMRAKQNPPGPAPPGGGSSDAAGKPPAGALGTPAAAAANELNNNLPGGAPAAPAVPGPGGVN CAVGSAMLTRAAPGPRRSEDEPPAASASAAPPPQRDEEEPDGVPEKGKSSGPSARKGKGQIEKRKLREKRRSTGVVNIPAAEEFLKRYAG >In-frame_PAWR_ENST00000328827_chr12_80083509_-_CLEC2A_ENST00000455827_chr12_10069402_-_245aa MATGGYRTSSGLGGSTTDFLEEWKAKREKMRAKQNPPGPAPPGGGSSDAAGKPPAGALGTPAAAAANELNNNLPGGAPAAPAVPGPGGVN CAVGSAMLTRAAPGPRRSEDEPPAASASAAPPPQRDEEEPDGVPEKGKSSGPSARKGKGQIEKRKLREKRRSTGVVNIPAAEEFLKRYAG |
| * Fusion transcript sequences (only coding sequence (CDS) region). |
| >In-frame_PAWR_ENST00000328827_chr12_80083509_-_CLEC2A_ENST00000339766_chr12_10069402_-_693nt ATGGCGACCGGTGGCTACCGGACCAGCAGCGGCCTCGGCGGCAGCACCACAGACTTCCTGGAGGAGTGGAAGGCGAAACGCGAGAAGATG CGCGCCAAGCAGAACCCCCCGGGCCCGGCCCCCCCGGGAGGGGGCAGCAGCGACGCCGCTGGGAAGCCCCCCGCGGGGGCTCTGGGCACC CCGGCGGCCGCCGCTGCCAACGAGCTCAACAACAACCTCCCGGGCGGCGCGCCGGCCGCACCTGCCGTCCCCGGTCCCGGGGGCGTGAAC TGCGCGGTCGGCTCCGCCATGCTGACGCGGGCGGCCCCCGGCCCGCGGCGGTCGGAGGACGAGCCCCCAGCCGCCTCTGCCTCGGCTGCA CCGCCGCCCCAGCGTGACGAGGAGGAGCCGGACGGCGTCCCAGAGAAGGGCAAGAGCTCGGGCCCCAGTGCCAGGAAAGGCAAGGGGCAG ATCGAGAAGAGGAAGCTGCGGGAGAAGCGGCGCTCCACCGGCGTGGTCAACATCCCTGCCGCAGAGGAATTTTTGAAGAGGTACGCAGGA ACTGATATGCACTGGATTGGACTAAGCAGGAAACAAGGAGATTCTTGGAAATGGACAAATGGCACCACATTCAATGGTTGGCCATCAAAC >In-frame_PAWR_ENST00000328827_chr12_80083509_-_CLEC2A_ENST00000455827_chr12_10069402_-_735nt ATGGCGACCGGTGGCTACCGGACCAGCAGCGGCCTCGGCGGCAGCACCACAGACTTCCTGGAGGAGTGGAAGGCGAAACGCGAGAAGATG CGCGCCAAGCAGAACCCCCCGGGCCCGGCCCCCCCGGGAGGGGGCAGCAGCGACGCCGCTGGGAAGCCCCCCGCGGGGGCTCTGGGCACC CCGGCGGCCGCCGCTGCCAACGAGCTCAACAACAACCTCCCGGGCGGCGCGCCGGCCGCACCTGCCGTCCCCGGTCCCGGGGGCGTGAAC TGCGCGGTCGGCTCCGCCATGCTGACGCGGGCGGCCCCCGGCCCGCGGCGGTCGGAGGACGAGCCCCCAGCCGCCTCTGCCTCGGCTGCA CCGCCGCCCCAGCGTGACGAGGAGGAGCCGGACGGCGTCCCAGAGAAGGGCAAGAGCTCGGGCCCCAGTGCCAGGAAAGGCAAGGGGCAG ATCGAGAAGAGGAAGCTGCGGGAGAAGCGGCGCTCCACCGGCGTGGTCAACATCCCTGCCGCAGAGGAATTTTTGAAGAGGTACGCAGGA ACTGATATGCACTGGATTGGACTAAGCAGGAAACAAGGAGATTCTTGGAAATGGACAAATGGCACCACATTCAATGGTTGGTTTGAAATT ATAGGGAACGGATCCTTTGCTTTCTTGAGTGCTGATGGAGTCCATAGTTCCAGAGGATTTATTGATATCAAGTGGATTTGCAGCAAACCT |
| * Fusion transcript sequences (Full-length transcript). |
| >In-frame_PAWR_ENST00000328827_chr12_80083509_-_CLEC2A_ENST00000339766_chr12_10069402_-_1297nt TTTTCCGCTCGTGCTTCGGCGCCGCTCGGCTCCCTTCCCGCCCCTGGCTCCCTCCCTCCCTCCCTCCCTCCTTCTTCTCCCTCCCTCCTG TCCTGGGATTGCCTGGAGCTCCGCACCGCGAGTTTGCCGCGGCACTTTCCGCGCGGCGGAAGAGCGCGCGCCAGCTTCGGCACACCTGGG AGCCGGATCCCAGCCCTACGCCTCGTCCCCTACAAGCTCCTCCAAGCCCCGCCGGCTGCTGTGGGAGCGGCGGCCGTCCCTCTCCTGGAG GTCGTCTCCTGGCATCCTCGGGGCCGCAGGAAGGAAGAGGAGGCAGCGGCCGGAGCCCTGGTGGGCGGCCTGAGGTGAGAGCCCGACCGG CCCCTTTGGGAATATGGCGACCGGTGGCTACCGGACCAGCAGCGGCCTCGGCGGCAGCACCACAGACTTCCTGGAGGAGTGGAAGGCGAA ACGCGAGAAGATGCGCGCCAAGCAGAACCCCCCGGGCCCGGCCCCCCCGGGAGGGGGCAGCAGCGACGCCGCTGGGAAGCCCCCCGCGGG GGCTCTGGGCACCCCGGCGGCCGCCGCTGCCAACGAGCTCAACAACAACCTCCCGGGCGGCGCGCCGGCCGCACCTGCCGTCCCCGGTCC CGGGGGCGTGAACTGCGCGGTCGGCTCCGCCATGCTGACGCGGGCGGCCCCCGGCCCGCGGCGGTCGGAGGACGAGCCCCCAGCCGCCTC TGCCTCGGCTGCACCGCCGCCCCAGCGTGACGAGGAGGAGCCGGACGGCGTCCCAGAGAAGGGCAAGAGCTCGGGCCCCAGTGCCAGGAA AGGCAAGGGGCAGATCGAGAAGAGGAAGCTGCGGGAGAAGCGGCGCTCCACCGGCGTGGTCAACATCCCTGCCGCAGAGGAATTTTTGAA GAGGTACGCAGGAACTGATATGCACTGGATTGGACTAAGCAGGAAACAAGGAGATTCTTGGAAATGGACAAATGGCACCACATTCAATGG TTGGCCATCAAACTCCAAATGGTCTTGCAACTGGAGCCTCCGACAATGGCTTCTTCTGCTGGGACCCCTTAGATAGGCCTCTGAGGGAGC TCTGACTGCCGTTTCCCCAAAACAATGTCCCCTGTCAGCAGGAAGCAGTTAAATCTGTCTTCATCCTTATCCTTAATATAACGGCAGTTA GATGTACTTCTTTAGAGGGAGTAAATTTATCAATTCAGAGCAATTCATCCTCCTCTTTCCATCTTTGATTCACAGTTAATAGGCTATAAA >In-frame_PAWR_ENST00000328827_chr12_80083509_-_CLEC2A_ENST00000455827_chr12_10069402_-_1447nt TTTTCCGCTCGTGCTTCGGCGCCGCTCGGCTCCCTTCCCGCCCCTGGCTCCCTCCCTCCCTCCCTCCCTCCTTCTTCTCCCTCCCTCCTG TCCTGGGATTGCCTGGAGCTCCGCACCGCGAGTTTGCCGCGGCACTTTCCGCGCGGCGGAAGAGCGCGCGCCAGCTTCGGCACACCTGGG AGCCGGATCCCAGCCCTACGCCTCGTCCCCTACAAGCTCCTCCAAGCCCCGCCGGCTGCTGTGGGAGCGGCGGCCGTCCCTCTCCTGGAG GTCGTCTCCTGGCATCCTCGGGGCCGCAGGAAGGAAGAGGAGGCAGCGGCCGGAGCCCTGGTGGGCGGCCTGAGGTGAGAGCCCGACCGG CCCCTTTGGGAATATGGCGACCGGTGGCTACCGGACCAGCAGCGGCCTCGGCGGCAGCACCACAGACTTCCTGGAGGAGTGGAAGGCGAA ACGCGAGAAGATGCGCGCCAAGCAGAACCCCCCGGGCCCGGCCCCCCCGGGAGGGGGCAGCAGCGACGCCGCTGGGAAGCCCCCCGCGGG GGCTCTGGGCACCCCGGCGGCCGCCGCTGCCAACGAGCTCAACAACAACCTCCCGGGCGGCGCGCCGGCCGCACCTGCCGTCCCCGGTCC CGGGGGCGTGAACTGCGCGGTCGGCTCCGCCATGCTGACGCGGGCGGCCCCCGGCCCGCGGCGGTCGGAGGACGAGCCCCCAGCCGCCTC TGCCTCGGCTGCACCGCCGCCCCAGCGTGACGAGGAGGAGCCGGACGGCGTCCCAGAGAAGGGCAAGAGCTCGGGCCCCAGTGCCAGGAA AGGCAAGGGGCAGATCGAGAAGAGGAAGCTGCGGGAGAAGCGGCGCTCCACCGGCGTGGTCAACATCCCTGCCGCAGAGGAATTTTTGAA GAGGTACGCAGGAACTGATATGCACTGGATTGGACTAAGCAGGAAACAAGGAGATTCTTGGAAATGGACAAATGGCACCACATTCAATGG TTGGTTTGAAATTATAGGGAACGGATCCTTTGCTTTCTTGAGTGCTGATGGAGTCCATAGTTCCAGAGGATTTATTGATATCAAGTGGAT TTGCAGCAAACCTAAATATTTTTTATAGAGCAGAAAAAACTTGAAAATGATTATCACACTTCAAGATTGAAAGAAGAGCTAATTATGCAA AAGTGGCTTTCTCACTTATTCTGTTACAGAATACGGAACCTCTGGTGAGGGCCCATTTTCTAGTTTATAGATGGAAACTTCTTGCTGTGC CCTGCCATGGTTAAAGAGACAAGGCCGTTCTCTGGAGCCTTTTATAAGGGCACAATCACATTTACTATGGCTCCATCCTCATGAACTAAT CACCTCCTGATGGATGGCTCCATCCCCTAATACCATCACACTGGTGATTAGCTTTCAATTTATGAGTTTTGGGAGGACCCAAATACTCAG |
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FusionGenePPI for PAWR_CLEC2A |
| 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 |
| PAWR | THAP1, SLC5A7, SLC5A1, AATF, DAPK3, PRKCZ, WT1, HSPA5, FBXO25, SPSB1, SPSB2, SPSB4, SQSTM1, DRD2, PAN2, APEH, CAND1, CARS, FAM129B, H3F3A, IDE, JMJD6, ATP6V1C1, SHMT1, PPM1G, SHMT2, SNX2, SNX6, STAT1, VPS29, FBXO45, CCDC8, EED, LUZP4, DDX39A, CEP290, CEP128, MYH9, HMG20A, IKBIP, SCOC, SLC25A41, G3BP1, HDAC6 | CLEC2A |
| - 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 PAWR_CLEC2A |
| 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 PAWR_CLEC2A |
| Diseases associated with fusion partners. (DisGeNet 4.0) |
| Partner | Gene | Disease ID | Disease name | # pubmeds | Source |
| Hgene | PAWR | C0036341 | Schizophrenia | 2 | PSYGENET |
| Hgene | PAWR | C0041696 | Unipolar Depression | 2 | PSYGENET |
| Hgene | PAWR | C1269683 | Major Depressive Disorder | 2 | PSYGENET |
| Hgene | PAWR | C0001418 | Adenocarcinoma | 1 | CTD_human |
| Hgene | PAWR | C0005586 | Bipolar Disorder | 1 | PSYGENET |
| Hgene | PAWR | C0014170 | Endometrial Neoplasms | 1 | CTD_human |
| Hgene | PAWR | C0033578 | Prostatic Neoplasms | 1 | CTD_human |
| Hgene | PAWR | C0033975 | Psychotic Disorders | 1 | PSYGENET |
| Hgene | PAWR | C0525045 | Mood Disorders | 1 | PSYGENET |
| Hgene | PAWR | C0600427 | Cocaine Dependence | 1 | PSYGENET |
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