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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: 31469

FusionGeneSummary for RNF168_SMCO1

check button Fusion gene summary
Fusion gene informationFusion gene name: RNF168_SMCO1
Fusion gene ID: 31469
HgeneTgene
Gene symbol

RNF168

SMCO1

Gene ID

165918

255798

Gene namering finger protein 168single-pass membrane protein with coiled-coil domains 1
SynonymshRNF168C3orf43
Cytomap

3q29

3q29

Type of geneprotein-codingprotein-coding
DescriptionE3 ubiquitin-protein ligase RNF168RING-type E3 ubiquitin transferase RNF168ring finger protein 168, E3 ubiquitin protein ligasesingle-pass membrane and coiled-coil domain-containing protein 1
Modification date2018051920180519
UniProtAcc

Q8IYW5

Q147U7

Ensembl transtripts involved in fusion geneENST00000318037, ENST00000397537, 
Fusion gene scores* DoF score4 X 3 X 4=482 X 2 X 2=8
# samples 53
** MAII scorelog2(5/48*10)=0.0588936890535686
effective Gene in Pan-Cancer Fusion Genes (eGinPCFGs).
DoF>8 and MAII>0
log2(3/8*10)=1.90689059560852
Context

PubMed: RNF168 [Title/Abstract] AND SMCO1 [Title/Abstract] AND fusion [Title/Abstract]

Functional or gene categories assigned by FusionGDB annotationDDR (DNA damage repair) gene involved fusion gene, retained protein feature but frameshift.
* 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
HgeneRNF168

GO:0006302

double-strand break repair

19203578|19203579|22980979

HgeneRNF168

GO:0006511

ubiquitin-dependent protein catabolic process

22373579

HgeneRNF168

GO:0006974

cellular response to DNA damage stimulus

19500350|20550933|22373579|22508508|22980979

HgeneRNF168

GO:0010212

response to ionizing radiation

19203578|19203579

HgeneRNF168

GO:0016567

protein ubiquitination

22373579

HgeneRNF168

GO:0035518

histone H2A monoubiquitination

22980979

HgeneRNF168

GO:0036351

histone H2A-K13 ubiquitination

22980979

HgeneRNF168

GO:0036352

histone H2A-K15 ubiquitination

22980979

HgeneRNF168

GO:0045739

positive regulation of DNA repair

19203578|19203579

HgeneRNF168

GO:0070534

protein K63-linked ubiquitination

22266820

HgeneRNF168

GO:0070535

histone H2A K63-linked ubiquitination

19203578|19203579|19500350


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
TCGALDBRCATCGA-E9-A244-01ARNF168chr3

196229744

-SMCO1chr3

196235202

-
TCGALDSTADTCGA-CD-8535-01ARNF168chr3

196229744

-SMCO1chr3

196235202

-
* 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
Frame-shitENST00000318037ENST00000397537RNF168chr3

196229744

-SMCO1chr3

196235202

-

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FusionProtFeatures for RNF168_SMCO1


check buttonMain function of each fusion partner protein. (from UniProt)
HgeneTgene
RNF168

Q8IYW5

SMCO1

Q147U7

E3 ubiquitin-protein ligase required for accumulation ofrepair proteins to sites of DNA damage. Acts with UBE2N/UBC13 toamplify the RNF8-dependent histone ubiquitination. Recruited tosites of DNA damage at double-strand breaks (DSBs) by binding toubiquitinated histone H2A and H2AX and amplifies the RNF8-dependent H2A ubiquitination, promoting the formation of 'Lys-63'-linked ubiquitin conjugates. This leads to concentrateubiquitinated histones H2A and H2AX at DNA lesions to thethreshold required for recruitment of TP53BP1 and BRCA1. Alsorecruited at DNA interstrand cross-links (ICLs) sites and promotesaccumulation of 'Lys-63'-linked ubiquitination of histones H2A andH2AX, leading to recruitment of FAAP20/C1orf86 and Fanconi anemia(FA) complex, followed by interstrand cross-link repair. H2Aubiquitination also mediates the ATM-dependent transcriptionalsilencing at regions flanking DSBs in cis, a mechanism to avoidcollision between transcription and repair intermediates. Alsoinvolved in class switch recombination in immune system, via itsrole in regulation of DSBs repair. Following DNA damage, promotesthe ubiquitination and degradation of JMJD2A/KDM4A incollaboration with RNF8, leading to unmask H4K20me2 mark andpromote the recruitment of TP53BP1 at DNA damage sites. Not ableto initiate 'Lys-63'-linked ubiquitination in vitro; possibly dueto partial occlusion of the UBE2N/UBC13-binding region. Catalyzesmonoubiquitination of 'Lys-13' and 'Lys-15' of nucleosomal histoneH2A (H2AK13Ub and H2AK15Ub, respectively). {ECO:0000255|HAMAP-Rule:MF_03066, ECO:0000269|PubMed:19203578,ECO:0000269|PubMed:19203579, ECO:0000269|PubMed:20550933,ECO:0000269|PubMed:22373579, ECO:0000269|PubMed:22705371,ECO:0000269|PubMed:22713238, ECO:0000269|PubMed:22742833,ECO:0000269|PubMed:22980979, ECO:0000269|PubMed:23760478}.

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 RNF168_SMCO1


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 RNF168_SMCO1


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
RNF168UBE2G2, HIST2H2AC, TP53BP1, H2AFX, UBE2N, HIST2H2AA3, HIST2H2BE, HERC2, KDM4A, UBC, KIAA0368, UBE2D3, UBE2E1, DDX1, POC1A, TAF15, EWSR1, DCTN1, KIF5B, SMARCA5, UBR5, TRIP12, LAPTM5, RNF11, KDM1A, JMJD1C, BCL10, RNF168, PSMD11, TBP, SRCAP, CCDC174, NUB1, RPRD1B, TACC3, FAM45A, USP7, SUMO2, SUMO3, HIST1H1C, UBE2D1, H2AFZ, HIST1H2AB, FOXM1, WBP2, PALB2, BRCA2, TOP2A, MKI67, SUMO1, UBB, TJP1, PCM1, PDCD11, NCL, HNRNPM, DDX21, RAI14, LIMA1, DHX9, DHX15, DBN1, PABPC4, USP10SMCO1SPAG9, MAPK8IP3


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 RNF168_SMCO1


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 RNF168_SMCO1


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