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Fusion gene ID: 35699 |
FusionGeneSummary for SPINK4_SQSTM1 |
 Fusion gene summary |
| Fusion gene information | Fusion gene name: SPINK4_SQSTM1 | Fusion gene ID: 35699 | Hgene | Tgene | Gene symbol | SPINK4 | SQSTM1 | Gene ID | 27290 | 8878 |
| Gene name | serine peptidase inhibitor, Kazal type 4 | sequestosome 1 | |
| Synonyms | HEL136|PEC-60|PEC60 | A170|DMRV|FTDALS3|NADGP|OSIL|PDB3|ZIP3|p60|p62|p62B | |
| Cytomap | 9p13.3 | 5q35.3 | |
| Type of gene | protein-coding | protein-coding | |
| Description | serine protease inhibitor Kazal-type 4epididymis luminal protein 136gastrointestinal peptidepeptide PEC-60 homolog | sequestosome-1EBI3-associated protein of 60 kDaEBI3-associated protein p60EBIAPoxidative stress induced likephosphotyrosine independent ligand for the Lck SH2 domain p62phosphotyrosine-independent ligand for the Lck SH2 domain of 62 kDaubiquitin-bi | |
| Modification date | 20180519 | 20180523 | |
| UniProtAcc | O60575 | Q13501 | |
| Ensembl transtripts involved in fusion gene | ENST00000379725, ENST00000379723, ENST00000379721, | ENST00000376929, ENST00000506690, ENST00000389805, ENST00000402874, ENST00000510187, ENST00000360718, | |
| Fusion gene scores | * DoF score | 1 X 1 X 1=1 | 17 X 12 X 8=1632 |
| # samples | 1 | 23 | |
| ** MAII score | log2(1/1*10)=3.32192809488736 | log2(23/1632*10)=-2.82693529102712 possibly effective Gene in Pan-Cancer Fusion Genes (peGinPCFGs). DoF>8 and MAII<0 | |
| Context | PubMed: SPINK4 [Title/Abstract] AND SQSTM1 [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 | SQSTM1 | GO:0007032 | endosome organization | 27368102 |
| Tgene | SQSTM1 | GO:0061635 | regulation of protein complex stability | 25127057 |
| Tgene | SQSTM1 | GO:1905719 | protein localization to perinuclear region of cytoplasm | 27368102 |
| 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 | PAAD | TCGA-HZ-7289-01A | SPINK4 | chr9 | 33248564 | + | SQSTM1 | chr5 | 179250858 | + |
| * 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-3CDS | ENST00000379725 | ENST00000376929 | SPINK4 | chr9 | 33248564 | + | SQSTM1 | chr5 | 179250858 | + |
| intron-intron | ENST00000379725 | ENST00000506690 | SPINK4 | chr9 | 33248564 | + | SQSTM1 | chr5 | 179250858 | + |
| intron-intron | ENST00000379725 | ENST00000389805 | SPINK4 | chr9 | 33248564 | + | SQSTM1 | chr5 | 179250858 | + |
| intron-intron | ENST00000379725 | ENST00000402874 | SPINK4 | chr9 | 33248564 | + | SQSTM1 | chr5 | 179250858 | + |
| intron-intron | ENST00000379725 | ENST00000510187 | SPINK4 | chr9 | 33248564 | + | SQSTM1 | chr5 | 179250858 | + |
| intron-intron | ENST00000379725 | ENST00000360718 | SPINK4 | chr9 | 33248564 | + | SQSTM1 | chr5 | 179250858 | + |
| Frame-shift | ENST00000379723 | ENST00000376929 | SPINK4 | chr9 | 33248564 | + | SQSTM1 | chr5 | 179250858 | + |
| 5CDS-intron | ENST00000379723 | ENST00000506690 | SPINK4 | chr9 | 33248564 | + | SQSTM1 | chr5 | 179250858 | + |
| 5CDS-intron | ENST00000379723 | ENST00000389805 | SPINK4 | chr9 | 33248564 | + | SQSTM1 | chr5 | 179250858 | + |
| 5CDS-intron | ENST00000379723 | ENST00000402874 | SPINK4 | chr9 | 33248564 | + | SQSTM1 | chr5 | 179250858 | + |
| 5CDS-intron | ENST00000379723 | ENST00000510187 | SPINK4 | chr9 | 33248564 | + | SQSTM1 | chr5 | 179250858 | + |
| 5CDS-intron | ENST00000379723 | ENST00000360718 | SPINK4 | chr9 | 33248564 | + | SQSTM1 | chr5 | 179250858 | + |
| Frame-shift | ENST00000379721 | ENST00000376929 | SPINK4 | chr9 | 33248564 | + | SQSTM1 | chr5 | 179250858 | + |
| 5CDS-intron | ENST00000379721 | ENST00000506690 | SPINK4 | chr9 | 33248564 | + | SQSTM1 | chr5 | 179250858 | + |
| 5CDS-intron | ENST00000379721 | ENST00000389805 | SPINK4 | chr9 | 33248564 | + | SQSTM1 | chr5 | 179250858 | + |
| 5CDS-intron | ENST00000379721 | ENST00000402874 | SPINK4 | chr9 | 33248564 | + | SQSTM1 | chr5 | 179250858 | + |
| 5CDS-intron | ENST00000379721 | ENST00000510187 | SPINK4 | chr9 | 33248564 | + | SQSTM1 | chr5 | 179250858 | + |
| 5CDS-intron | ENST00000379721 | ENST00000360718 | SPINK4 | chr9 | 33248564 | + | SQSTM1 | chr5 | 179250858 | + |
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FusionProtFeatures for SPINK4_SQSTM1 |
| Main function of each fusion partner protein. (from UniProt) |
| Hgene | Tgene |
| SPINK4 | SQSTM1 |
| Autophagy receptor required for selective macroautophagy(aggrephagy). Functions as a bridge between polyubiquitinatedcargo and autophagosomes. Interacts directly with both the cargoto become degraded and an autophagy modifier of the MAP1 LC3family (PubMed:16286508, PubMed:20168092, PubMed:24128730,PubMed:28404643, PubMed:22622177). Along with WDFY3, involved inthe formation and autophagic degradation of cytoplasmic ubiquitin-containing inclusions (p62 bodies, ALIS/aggresome-like inducedstructures). Along with WDFY3, required to recruit ubiquitinatedproteins to PML bodies in the nucleus (PubMed:24128730,PubMed:20168092). May regulate the activation of NFKB1 by TNF-alpha, nerve growth factor (NGF) and interleukin-1. May play arole in titin/TTN downstream signaling in muscle cells. Mayregulate signaling cascades through ubiquitination. Adapter thatmediates the interaction between TRAF6 and CYLD (By similarity).May be involved in cell differentiation, apoptosis, immuneresponse and regulation of K(+) channels. Involved in endosomeorganization by retaining vesicles in the perinuclear cloud:following ubiquitination by RNF26, attracts specific vesicle-associated adapters, forming a molecular bridge that restrainscognate vesicles in the perinuclear region and organizes theendosomal pathway for efficient cargo transport (PubMed:27368102).{ECO:0000250|UniProtKB:O08623, ECO:0000250|UniProtKB:Q64337,ECO:0000269|PubMed:10356400, ECO:0000269|PubMed:10747026,ECO:0000269|PubMed:11244088, ECO:0000269|PubMed:12471037,ECO:0000269|PubMed:15340068, ECO:0000269|PubMed:15802564,ECO:0000269|PubMed:15911346, ECO:0000269|PubMed:15953362,ECO:0000269|PubMed:16079148, ECO:0000269|PubMed:16286508,ECO:0000269|PubMed:19931284, ECO:0000269|PubMed:20168092,ECO:0000269|PubMed:22622177, ECO:0000269|PubMed:24128730,ECO:0000269|PubMed:27368102, ECO:0000269|PubMed:28404643}. |
| 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 SPINK4_SQSTM1 |
| 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 SPINK4_SQSTM1 |
| 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 |
| SPINK4 | LAMA3, HTRA1, MINPP1, MICA, PLXNA2, SPPL2B, CERCAM, TMEM67 | SQSTM1 | GABARAPL2, RAD23A, GABARAPL1, SQSTM1, LINC00341, MAP1LC3B, TRAF6, PRKCZ, IRAK1, PRKCI, NTRK1, RIPK1, NTRK2, NTRK3, LCK, MAP1LC3A, KEAP1, GABARAP, C10orf2, ABHD10, CEP78, DIP2B, BLOC1S5, EMILIN3, NSUN4, OSBPL8, INA, NIPSNAP1, GBAS, LLGL1, HADHA, GPC4, HADHB, CTNND1, ASPH, ENPP1, TRMT61B, GLG1, MRPL38, NEFM, GTF3C3, SRRM2, MYD88, MYC, MAP3K3, MAP2K5, IRF8, TRIM21, CYLD, CALM1, BNIP1, NFE2L2, CUL3, PIK3CA, PPHLN1, BPTF, UBC, DAZAP2, CDC37, TRIM13, CASP8, PCK1, STAT5A, PDE4A, MAPT, ATG4B, CHMP2B, TARDBP, CUL1, CUL2, HDAC6, ATG7, FUS, CSNK2A1, ZFAND5, TUBA1A, WDFY3, BAG3, NBR1, SNCA, TRIM63, TRIM55, TTN, RARA, PSMC2, PSMD4, MAP1LC3C, TRIM50, ARHGEF28, TGM2, PAWR, RPTOR, MTOR, AKT1S1, MLST8, RPS6KB1, RRAGC, RRAGB, CDK9, SPRED2, TRIM5, AJUBA, LIMD1, MAPK14, PARP10, TNFRSF10A, HTT, HNRNPA2B1, SDHA, CAV1, BID, FAS, SESN2, SESN1, MALT1, IKBKG, FHOD3, NOD2, SYNPO2, PYCARD, MLH1, PARK2, BCL2, PAN2, NPM1, MBP, YWHAZ, STXBP1, FKBP4, MEIS2, TKT, HSPA4, RELN, CAMK2A, ULK2, NCOR1, NGFR, CALCOCO2, CDK1, CCNB1, PRKCD, MAPK1, SMAD3, EEF1D, RPL37, GEMIN4, DVL2, CHAF1A, TP53, CASP9, HIF1A, PSMD12, PSMD3, FLNB, PSMD10, TXNL1, TNK2, LGALS3, EDEM1, CFTR, CSNK2A2, DCP2, EGLN3, EPAS1, ULK1, TOLLIP, OPTN, ATXN3, STUB1, ISG15, MOV10, NXF1, CUL7, PIK3R1, PIK3R2, AGAP1, INSR, TBK1, CRHBP, SCCPDH, DNAI1, DNAI2, TP53INP1, LLGL2, HSPB1, IFI16, KIAA0753, MED4, CEP135, CNTRL, SASS6, TMEM17, XPO1, CD44, KIF5B, PML, ENC1, SKI, TRIB3, RBM45, MAPK13, CHDH, EPDR1, GAS6, NDUFS2, NDUFS3, GFM2, NDUFA5, CD48, LDHA, RCN2, TRAF1, GBP2, KLHL3, EPM2A, RAD54L2, HSPA5, GRIA1, UBXN1, PEX5, BCL10, ATG5, CSNK1A1, VANGL2, SERPINA1, LRRK2, VHL, TCEB2, TCEB1, RNF166, NOTCH1, RETN, KERA, INSL5, TMX1, VWCE, CD96, HTR3A, RNF26, INO80B, DLST, TRIM25, PLIN1, TES, WDR81, PSMA6, TRIM23 |
| - 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 SPINK4_SQSTM1 |
| 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 SPINK4_SQSTM1 |
| Diseases associated with fusion partners. (DisGeNet 4.0) |
| Partner | Gene | Disease ID | Disease name | # pubmeds | Source |
| Tgene | SQSTM1 | C4085252 | PAGET DISEASE OF BONE 3 | 12 | UNIPROT |
| Tgene | SQSTM1 | C4225326 | FRONTOTEMPORAL DEMENTIA AND/OR AMYOTROPHIC LATERAL SCLEROSIS 3 | 3 | UNIPROT |
| Tgene | SQSTM1 | C0002736 | Amyotrophic Lateral Sclerosis | 1 | CTD_human;HPO;ORPHANET |
| Tgene | SQSTM1 | C0242383 | Age related macular degeneration | 1 | CTD_human |
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