FusionGDB Logo

Home

Download

Statistics

Examples

Help

Contact

Center for Computational Systems Medicine
leaf

FusionGeneSummary

leaf

FusionProtFeature

leaf

FusionGeneSequence

leaf

FusionGenePPI

leaf

RelatedDrugs

leaf

RelatedDiseases

Fusion gene ID: 16099

FusionGeneSummary for HERC1_SNX6

check button Fusion gene summary
Fusion gene informationFusion gene name: HERC1_SNX6
Fusion gene ID: 16099
HgeneTgene
Gene symbol

HERC1

SNX6

Gene ID

8925

58533

Gene nameHECT and RLD domain containing E3 ubiquitin protein ligase family member 1sorting nexin 6
SynonymsMDFPMR|p532|p619MSTP010|TFAF2
Cytomap

15q22.31

14q13.1

Type of geneprotein-codingprotein-coding
Descriptionprobable 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 (CHCsorting nexin-6TRAF4-associated factor 2tumor necrosis factor receptor-associated factor 4(TRAF4)-associated factor 2
Modification date2018051920180522
UniProtAcc

Q15751

Q9UNH7

Ensembl transtripts involved in fusion geneENST00000443617, ENST00000396526, 
ENST00000396534, ENST00000362031, 
ENST00000355110, 
Fusion gene scores* DoF score10 X 11 X 9=9904 X 4 X 4=64
# samples 144
** MAII scorelog2(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)

check button Gene ontology of each fusion partner gene with evidence of Inferred from Direct Assay (IDA) from Entrez
PartnerGeneGO IDGO termPubMed ID
TgeneSNX6

GO:0030512

negative regulation of transforming growth factor beta receptor signaling pathway

11279102

TgeneSNX6

GO:0045892

negative regulation of transcription, DNA-templated

11279102|20830743


check button 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 typeSourceCancer typeSampleHgeneHchrHbpHstrandTgeneTchrTbpTstrand
TCGARVPRADTCGA-YL-A9WH-01AHERC1chr15

64126026

-SNX6chr14

35032381

-
* LD: Li Ding group's fusion gene list
  RV: Roel Verhaak group's fusion gene list
  ChiTaRs fusion database

check button 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.
ORFHenstTenstHgeneHchrHbpHstrandTgeneTchrTbpTstrand
5UTR-3CDSENST00000443617ENST00000396526HERC1chr15

64126026

-SNX6chr14

35032381

-
5UTR-3CDSENST00000443617ENST00000396534HERC1chr15

64126026

-SNX6chr14

35032381

-
5UTR-3CDSENST00000443617ENST00000362031HERC1chr15

64126026

-SNX6chr14

35032381

-
5UTR-3CDSENST00000443617ENST00000355110HERC1chr15

64126026

-SNX6chr14

35032381

-

Top

FusionProtFeatures for HERC1_SNX6


check buttonMain function of each fusion partner protein. (from UniProt)
HgeneTgene
HERC1

Q15751

SNX6

Q9UNH7

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}.

check buttonRetention 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

download page

.

* 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.
PartnerGeneHbpTbpENSTStrandBPexonTotalExonProtein feature loci*BPlociTotalLenProtein featureProtein feature note

- In-frame and not-retained protein feature among the 13 regional features.
PartnerGeneHbpTbpENSTStrandBPexonTotalExonProtein feature loci*BPlociTotalLenProtein featureProtein feature note


Top

FusionGeneSequence for HERC1_SNX6


check button 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).

Top

FusionGenePPI for HERC1_SNX6


check button Go to ChiPPI (Chimeric Protein-Protein interactions) to see the chimeric PPI interaction in

ChiPPI page

.

check button Protein-protein interactors with each fusion partner protein in wild-type (BIOGRID-3.4.160)
HgeneHgene's interactorsTgeneTgene's interactors
HERC1DFFA, 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, UBCSNX6PIM1, 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


check button - Retained PPIs in in-frame fusion.
PartnerGeneHbpTbpENSTStrandBPexonTotalExonProtein feature loci*BPlociTotalLenStill interaction with


check button - Lost PPIs in in-frame fusion.
PartnerGeneHbpTbpENSTStrandBPexonTotalExonProtein feature loci*BPlociTotalLenInteraction lost with


check button - Retained PPIs, but lost function due to frame-shift fusion.
PartnerGeneHbpTbpENSTStrandBPexonTotalExonProtein feature loci*BPlociTotalLenInteraction lost with


Top

RelatedDrugs for HERC1_SNX6


check button Drugs targeting genes involved in this fusion gene.
(DrugBank Version 5.1.0 2018-04-02)
PartnerGeneUniProtAccDrugBank IDDrug nameDrug activityDrug typeDrug status

Top

RelatedDiseases for HERC1_SNX6


check button Diseases associated with fusion partners.
(DisGeNet 4.0)
PartnerGeneDisease IDDisease name# pubmedsSource