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Fusion gene ID: 16099 |
FusionGeneSummary for HERC1_SNX6 |
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Fusion gene information | Fusion gene name: HERC1_SNX6 | Fusion gene ID: 16099 | Hgene | Tgene | Gene symbol | HERC1 | SNX6 | Gene ID | 8925 | 58533 |
Gene name | HECT and RLD domain containing E3 ubiquitin protein ligase family member 1 | sorting nexin 6 | |
Synonyms | MDFPMR|p532|p619 | MSTP010|TFAF2 | |
Cytomap | 15q22.31 | 14q13.1 | |
Type of gene | protein-coding | protein-coding | |
Description | probable E3 ubiquitin-protein ligase HERC1HECT domain and RCC1-like domain-containing protein 1HECT-type E3 ubiquitin transferase HERC1guanine nucleotide exchange factor p532hect (homologous to the E6-AP (UBE3A) carboxyl terminus) domain and RCC1 (CHC | sorting nexin-6TRAF4-associated factor 2tumor necrosis factor receptor-associated factor 4(TRAF4)-associated factor 2 | |
Modification date | 20180519 | 20180522 | |
UniProtAcc | Q15751 | Q9UNH7 | |
Ensembl transtripts involved in fusion gene | ENST00000443617, | ENST00000396526, ENST00000396534, ENST00000362031, ENST00000355110, | |
Fusion gene scores | * DoF score | 10 X 11 X 9=990 | 4 X 4 X 4=64 |
# samples | 14 | 4 | |
** MAII score | log2(14/990*10)=-2.82200169802201 possibly effective Gene in Pan-Cancer Fusion Genes (peGinPCFGs). DoF>8 and MAII<0 | log2(4/64*10)=-0.678071905112638 possibly effective Gene in Pan-Cancer Fusion Genes (peGinPCFGs). DoF>8 and MAII<0 | |
Context | PubMed: HERC1 [Title/Abstract] AND SNX6 [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) |
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Partner | Gene | GO ID | GO term | PubMed ID |
Tgene | SNX6 | GO:0030512 | negative regulation of transforming growth factor beta receptor signaling pathway | 11279102 |
Tgene | SNX6 | GO:0045892 | negative regulation of transcription, DNA-templated | 11279102|20830743 |
![]() (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 | PRAD | TCGA-YL-A9WH-01A | HERC1 | chr15 | 64126026 | - | SNX6 | chr14 | 35032381 | - |
* LD: Li Ding group's fusion gene list RV: Roel Verhaak group's fusion gene list ChiTaRs fusion database |
![]() * 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 |
5UTR-3CDS | ENST00000443617 | ENST00000396526 | HERC1 | chr15 | 64126026 | - | SNX6 | chr14 | 35032381 | - |
5UTR-3CDS | ENST00000443617 | ENST00000396534 | HERC1 | chr15 | 64126026 | - | SNX6 | chr14 | 35032381 | - |
5UTR-3CDS | ENST00000443617 | ENST00000362031 | HERC1 | chr15 | 64126026 | - | SNX6 | chr14 | 35032381 | - |
5UTR-3CDS | ENST00000443617 | ENST00000355110 | HERC1 | chr15 | 64126026 | - | SNX6 | chr14 | 35032381 | - |
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FusionProtFeatures for HERC1_SNX6 |
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Hgene | Tgene |
HERC1 | SNX6 |
Involved in membrane trafficking via some guaninenucleotide exchange factor (GEF) activity and its ability to bindclathrin. Acts as a GEF for Arf and Rab, by exchanging bound GDPfor free GTP. Binds phosphatidylinositol 4,5-bisphosphate, whichis required for GEF activity. May also act as a E3 ubiquitin-protein ligase which accepts ubiquitin from an E2 ubiquitin-conjugating enzyme in the form of a thioester and then directlytransfers the ubiquitin to targeted substrates.{ECO:0000269|PubMed:15642342, ECO:0000269|PubMed:8861955,ECO:0000269|PubMed:9233772}. | Involved in several stages of intracellular trafficking.Interacts with membranes phosphatidylinositol 3,4-bisphosphateand/or phosphatidylinositol 4,5-bisphosphate (Probable). Acts inpart as component of the retromer membrane-deforming SNX-BARsubcomplex (PubMed:19935774). The SNX-BAR retromer mediatesretrograde transport of cargo proteins from endosomes to thetrans-Golgi network (TGN) and is involved in endosome-to-plasmamembrane transport for cargo protein recycling. The SNX-BARsubcomplex functions to deform the donor membrane into a tubularprofile called endosome-to-TGN transport carrier (ETC) (Probable).Does not have in vitro vesicle-to-membrane remodeling activity(PubMed:23085988). Involved in retrograde endosome-to-TGNtransport of lysosomal enzyme receptor IGF2R (PubMed:17148574).May function as link between transport vesicles and dynactin(Probable). Negatively regulates retrograde transport of BACE1from the cell surface to the trans-Golgi network(PubMed:20354142). Involved in E-cadherin sorting and degradation;inhibits PIP5K1C isoform 3-mediated E-cadherin degradation(PubMed:24610942). In association with GIT1 involved in EGFRdegradation. Promotes lysosomal degradation of CDKN1B (Bysimilarity). May contribute to transcription regulation(Probable). {ECO:0000250|UniProtKB:Q6P8X1,ECO:0000269|PubMed:17148574, ECO:0000269|PubMed:19935774,ECO:0000269|PubMed:20354142, ECO:0000269|PubMed:23085988,ECO:0000269|PubMed:24610942, ECO:0000303|PubMed:19935774,ECO:0000303|PubMed:20830743, ECO:0000305}. |
![]() * 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 HERC1_SNX6 |
![]() (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 HERC1_SNX6 |
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Hgene | Hgene's interactors | Tgene | Tgene's interactors |
HERC1 | DFFA, PKM, EP300, ARF1, TSC2, CLTC, NOS2, SOX9, UBE2D3, BYSL, GRIPAP1, KCMF1, MYL12A, BAK1, BRCA1, MORC1, RSPH10B2, MLF1, ECHS1, RAPSN, DNM3, USP18, TFDP3, ARHGAP29, TTLL1, UNK, HERC2, HERC1, UBE2S, EGFR, SSH3, IFIT1B, WDFY3, TIGD6, CCDC65, GCNT3, TRPC4AP, CSNK1A1, NEUROG3, C1orf87, RAPGEF5, ZBBX, SMOX, TPTE2, ZNF610, FMO5, ZNF223, ZNF571, VPS36, ZNF555, RABGEF1, ZNF563, UBC | SNX6 | PIM1, SNX4, SNX2, BMPR1B, ACVR2B, ACVRL1, SNX1, TGFBR2, TGFBR1, PDGFRA, INSR, EGFR, LEPR, CALM1, DISC1, NDEL1, TNIK, ELAVL1, GIT1, COIL, PHLPP1, BRCA1, CSNK2A2, GTF2A1, H3F3A, RTF1, ANP32E, APEH, ATG7, ATP6V1C1, FAM129B, PAWR, SHMT1, SHMT2, STAT1, TSNAX, VPS29, VPS35, TSN, BRMS1, ESR1, USP46, FAM221A, DNM3, TEAD4, TREML2, FAM43A, CAMKMT, CCNL2, GATS, VAPB, IMPDH2, PCID2, IFI16, HERC2, PTPRR, MTM1, SNX32, POTEB3, TSPYL1, HENMT1, TCTEX1D2, SNRNP27, CCDC102B, USP47, FGB, EPB42 |
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Partner | Gene | Hbp | Tbp | ENST | Strand | BPexon | TotalExon | Protein feature loci | *BPloci | TotalLen | Still interaction with |
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Partner | Gene | Hbp | Tbp | ENST | Strand | BPexon | TotalExon | Protein feature loci | *BPloci | TotalLen | Interaction lost with |
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Partner | Gene | Hbp | Tbp | ENST | Strand | BPexon | TotalExon | Protein feature loci | *BPloci | TotalLen | Interaction lost with |
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RelatedDrugs for HERC1_SNX6 |
![]() (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 HERC1_SNX6 |
![]() (DisGeNet 4.0) |
Partner | Gene | Disease ID | Disease name | # pubmeds | Source |