![]() |
||||||
|
![]() | |
![]() | |
![]() | |
![]() | |
![]() | |
![]() |
Fusion gene ID: 35324 |
FusionGeneSummary for SNX6_HERC1 |
![]() |
Fusion gene information | Fusion gene name: SNX6_HERC1 | Fusion gene ID: 35324 | Hgene | Tgene | Gene symbol | SNX6 | HERC1 | Gene ID | 58533 | 8925 |
Gene name | sorting nexin 6 | HECT and RLD domain containing E3 ubiquitin protein ligase family member 1 | |
Synonyms | MSTP010|TFAF2 | MDFPMR|p532|p619 | |
Cytomap | 14q13.1 | 15q22.31 | |
Type of gene | protein-coding | protein-coding | |
Description | sorting nexin-6TRAF4-associated factor 2tumor necrosis factor receptor-associated factor 4(TRAF4)-associated factor 2 | 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 | |
Modification date | 20180522 | 20180519 | |
UniProtAcc | Q9UNH7 | Q15751 | |
Ensembl transtripts involved in fusion gene | ENST00000396526, ENST00000396534, ENST00000362031, ENST00000355110, | ENST00000443617, | |
Fusion gene scores | * DoF score | 6 X 6 X 4=144 | 8 X 8 X 5=320 |
# samples | 6 | 8 | |
** MAII score | log2(6/144*10)=-1.26303440583379 possibly effective Gene in Pan-Cancer Fusion Genes (peGinPCFGs). DoF>8 and MAII<0 | log2(8/320*10)=-2 possibly effective Gene in Pan-Cancer Fusion Genes (peGinPCFGs). DoF>8 and MAII<0 | |
Context | PubMed: SNX6 [Title/Abstract] AND HERC1 [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) |
![]() |
Partner | Gene | GO ID | GO term | PubMed ID |
Hgene | SNX6 | GO:0030512 | negative regulation of transforming growth factor beta receptor signaling pathway | 11279102 |
Hgene | 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 |
ChiTaRS3.1 | AI114871 | SNX6 | chr14 | 35037146 | - | HERC1 | chr15 | 63901653 | - |
* 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 |
intron-intron | ENST00000396526 | ENST00000443617 | SNX6 | chr14 | 35037146 | - | HERC1 | chr15 | 63901653 | - |
intron-intron | ENST00000396534 | ENST00000443617 | SNX6 | chr14 | 35037146 | - | HERC1 | chr15 | 63901653 | - |
intron-intron | ENST00000362031 | ENST00000443617 | SNX6 | chr14 | 35037146 | - | HERC1 | chr15 | 63901653 | - |
intron-intron | ENST00000355110 | ENST00000443617 | SNX6 | chr14 | 35037146 | - | HERC1 | chr15 | 63901653 | - |
Top |
FusionProtFeatures for SNX6_HERC1 |
![]() |
Hgene | Tgene |
SNX6 | HERC1 |
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}. | 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}. |
![]() * 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 |
Top |
FusionGeneSequence for SNX6_HERC1 |
![]() (nt: nucleotides, aa: amino acids) |
* Fusion amino acid sequences. |
* Fusion transcript sequences (only coding sequence (CDS) region). |
* Fusion transcript sequences (Full-length transcript). |
Top |
FusionGenePPI for SNX6_HERC1 |
![]() |
![]() |
Hgene | Hgene's interactors | Tgene | Tgene's interactors |
![]() |
Partner | Gene | Hbp | Tbp | ENST | Strand | BPexon | TotalExon | Protein feature loci | *BPloci | TotalLen | Still interaction with |
![]() |
Partner | Gene | Hbp | Tbp | ENST | Strand | BPexon | TotalExon | Protein feature loci | *BPloci | TotalLen | Interaction lost with |
![]() |
Partner | Gene | Hbp | Tbp | ENST | Strand | BPexon | TotalExon | Protein feature loci | *BPloci | TotalLen | Interaction lost with |
Top |
RelatedDrugs for SNX6_HERC1 |
![]() (DrugBank Version 5.1.0 2018-04-02) |
Partner | Gene | UniProtAcc | DrugBank ID | Drug name | Drug activity | Drug type | Drug status |
Top |
RelatedDiseases for SNX6_HERC1 |
![]() (DisGeNet 4.0) |
Partner | Gene | Disease ID | Disease name | # pubmeds | Source |