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Center for Computational Systems Medicine
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FusionGeneSummary

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FusionProtFeature

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FusionGeneSequence

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FusionGenePPI

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RelatedDrugs

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RelatedDiseases

Fusion gene ID: 31417

FusionGeneSummary for RNF126_TSPAN4

check button Fusion gene summary
Fusion gene informationFusion gene name: RNF126_TSPAN4
Fusion gene ID: 31417
HgeneTgene
Gene symbol

RNF126

TSPAN4

Gene ID

55658

7106

Gene namering finger protein 126tetraspanin 4
Synonyms-NAG-2|NAG2|TETRASPAN|TM4SF7|TSPAN-4
Cytomap

19p13.3

11p15.5

Type of geneprotein-codingprotein-coding
DescriptionE3 ubiquitin-protein ligase RNF126tetraspanin-4novel antigen 2tetraspan TM4SFtransmembrane 4 superfamily member 7
Modification date2018052320180523
UniProtAcc

Q9BV68

O14817

Ensembl transtripts involved in fusion geneENST00000292363, ENST00000397397, 
ENST00000397411, ENST00000397396, 
ENST00000397408, ENST00000397406, 
ENST00000409543, ENST00000525201, 
ENST00000397404, ENST00000346501, 
ENST00000409531, 
Fusion gene scores* DoF score5 X 3 X 5=756 X 7 X 4=168
# samples 56
** MAII scorelog2(5/75*10)=-0.584962500721156
possibly effective Gene in Pan-Cancer Fusion Genes (peGinPCFGs).
DoF>8 and MAII<0
log2(6/168*10)=-1.48542682717024
possibly effective Gene in Pan-Cancer Fusion Genes (peGinPCFGs).
DoF>8 and MAII<0
Context

PubMed: RNF126 [Title/Abstract] AND TSPAN4 [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
HgeneRNF126

GO:0006511

ubiquitin-dependent protein catabolic process

24981174

HgeneRNF126

GO:0006513

protein monoubiquitination

23277564

HgeneRNF126

GO:0043161

proteasome-mediated ubiquitin-dependent protein catabolic process

24981174

TgeneTSPAN4

GO:0065003

protein-containing complex assembly

9360996


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
ChiTaRS3.1CN274960RNF126chr19

663047

-TSPAN4chr11

850287

+
* 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
5CDS-5UTRENST00000292363ENST00000397397RNF126chr19

663047

-TSPAN4chr11

850287

+
5CDS-5UTRENST00000292363ENST00000397411RNF126chr19

663047

-TSPAN4chr11

850287

+
5CDS-intronENST00000292363ENST00000397396RNF126chr19

663047

-TSPAN4chr11

850287

+
5CDS-5UTRENST00000292363ENST00000397408RNF126chr19

663047

-TSPAN4chr11

850287

+
5CDS-5UTRENST00000292363ENST00000397406RNF126chr19

663047

-TSPAN4chr11

850287

+
5CDS-5UTRENST00000292363ENST00000409543RNF126chr19

663047

-TSPAN4chr11

850287

+
5CDS-intronENST00000292363ENST00000525201RNF126chr19

663047

-TSPAN4chr11

850287

+
5CDS-5UTRENST00000292363ENST00000397404RNF126chr19

663047

-TSPAN4chr11

850287

+
5CDS-5UTRENST00000292363ENST00000346501RNF126chr19

663047

-TSPAN4chr11

850287

+
5CDS-5UTRENST00000292363ENST00000409531RNF126chr19

663047

-TSPAN4chr11

850287

+

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FusionProtFeatures for RNF126_TSPAN4


check buttonMain function of each fusion partner protein. (from UniProt)
HgeneTgene
RNF126

Q9BV68

TSPAN4

O14817

E3 ubiquitin-protein ligase that mediates ubiquitinationoF target proteins (PubMed:23277564, PubMed:24275455,PubMed:24981174). Depending on the associated E2 ligase, mediates'Lys-48'- and 'Lys-63'-linked polyubiquitination of substrates (Bysimilarity). Part of a BAG6-dependent quality control processensuring that proteins of the secretory pathway that aremislocalized to the cytosol are degraded by the proteasome.Probably acts by providing the ubiquitin ligase activityassociated with the BAG6 complex and be responsible forubiquitination of the hydrophobic mislocalized proteins and theirtargeting to the proteasome (PubMed:24981174, PubMed:29042515).May also play a role in the endosomal recycling of IGF2R, thecation-independent mannose-6-phosphate receptor (PubMed:24275455).May play a role in the endosomal sorting and degradation ofseveral membrane receptors including EGFR, FLT3, MET and CXCR4, bymediating their ubiquitination (PubMed:23418353). Byubiquitinating CDKN1A/p21 and targeting it for degradation, mayalso promote cell proliferation (PubMed:23026136). Maymonoubiquitinate AICDA (PubMed:23277564).{ECO:0000250|UniProtKB:Q91YL2, ECO:0000269|PubMed:23277564,ECO:0000269|PubMed:23418353, ECO:0000269|PubMed:24275455,ECO:0000269|PubMed:24981174, ECO:0000269|PubMed:29042515,ECO:0000305|PubMed:23026136}.

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


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FusionGeneSequence for RNF126_TSPAN4


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).

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FusionGenePPI for RNF126_TSPAN4


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
RNF126UBE2D1, UBE2D4, PSMF1, UBE2D3, UBE2D2, TSG101, UBC, FAF2, SNUPN, NUDT3, CSNK2B, PLK1, HMGCL, CDKN1A, RNF126, USP2, USP15, OTUB1, OTUB2, VCP, UBE2N, EGFR, SCAMP3, METTL21B, UBL4A, AICDA, TRIM11, TRIM52, RBX1, TRIM26, TRIM23, MDM2, SHFM1, BAG6, MAP3K1, UBB, GET4, FAM63A, TAX1BP1, LRWD1, ABCB6, CRYM, ASNA1, SKP2, SLC25A16, PJA1, WRAP73, APOD, KIAA0100, KLHL42, CAPN15, E2F1, SMC3, RAD50, RNF20, SMC1A, PFKP, SKIV2L2, POLD1, RRM1, SLC25A5, XPOT, USP7, SART3, QARS, AGL, AP2A2, ATP2A2, COPA, COPB1, COPB2, COPG1, DIS3, EIF3A, EIF4G2, EPRS, GFPT1, IARS2, IMMT, IRS4, LARP4, MCM2, MYO6, NAA15, NUP93, MSH6, MSH2, MCM4, XRCC5, XRCC6, FXN, TSPYL6, BBS1TSPAN4CD9, CD81, ITGA3, ITGA6, ITGB1, NOTCH2NL, CREB3


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


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RelatedDrugs for RNF126_TSPAN4


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

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RelatedDiseases for RNF126_TSPAN4


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