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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: 31050

FusionGeneSummary for RFWD3_STK31

check button Fusion gene summary
Fusion gene informationFusion gene name: RFWD3_STK31
Fusion gene ID: 31050
HgeneTgene
Gene symbol

RFWD3

STK31

Gene ID

55159

56164

Gene namering finger and WD repeat domain 3serine/threonine kinase 31
SynonymsFANCW|RNF201SGK396|TDRD8
Cytomap

16q23.1

7p15.3

Type of geneprotein-codingprotein-coding
DescriptionE3 ubiquitin-protein ligase RFWD3RING finger and WD repeat domain-containing protein 3RING finger protein 201RING-type E3 ubiquitin transferase RFWD3serine/threonine-protein kinase 31serine/threonine-protein kinase NYD-SPKsugen kinase 396testis tissue sperm-binding protein Li 78mtudor domain containing 8
Modification date2018051920180523
UniProtAcc

Q6PCD5

Q9BXU1

Ensembl transtripts involved in fusion geneENST00000361070, ENST00000571750, 
ENST00000355870, ENST00000433467, 
ENST00000354639, ENST00000428484, 
ENST00000405627, 
Fusion gene scores* DoF score1 X 1 X 1=12 X 2 X 2=8
# samples 12
** MAII scorelog2(1/1*10)=3.32192809488736log2(2/8*10)=1.32192809488736
Context

PubMed: RFWD3 [Title/Abstract] AND STK31 [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
HgeneRFWD3

GO:0000724

double-strand break repair via homologous recombination

26474068|28575657|28575658

HgeneRFWD3

GO:0006974

cellular response to DNA damage stimulus

26474068|28575657|28575658

HgeneRFWD3

GO:0010212

response to ionizing radiation

20173098

HgeneRFWD3

GO:0016567

protein ubiquitination

20173098|26474068|28575657|28575658

HgeneRFWD3

GO:0031297

replication fork processing

26474068


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
TCGARVLUADTCGA-44-5645-01ARFWD3chr16

74694830

-STK31chr7

23757100

+
* 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-shitENST00000361070ENST00000355870RFWD3chr16

74694830

-STK31chr7

23757100

+
Frame-shitENST00000361070ENST00000433467RFWD3chr16

74694830

-STK31chr7

23757100

+
Frame-shitENST00000361070ENST00000354639RFWD3chr16

74694830

-STK31chr7

23757100

+
Frame-shitENST00000361070ENST00000428484RFWD3chr16

74694830

-STK31chr7

23757100

+
5CDS-intronENST00000361070ENST00000405627RFWD3chr16

74694830

-STK31chr7

23757100

+
Frame-shitENST00000571750ENST00000355870RFWD3chr16

74694830

-STK31chr7

23757100

+
Frame-shitENST00000571750ENST00000433467RFWD3chr16

74694830

-STK31chr7

23757100

+
Frame-shitENST00000571750ENST00000354639RFWD3chr16

74694830

-STK31chr7

23757100

+
Frame-shitENST00000571750ENST00000428484RFWD3chr16

74694830

-STK31chr7

23757100

+
5CDS-intronENST00000571750ENST00000405627RFWD3chr16

74694830

-STK31chr7

23757100

+

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FusionProtFeatures for RFWD3_STK31


check buttonMain function of each fusion partner protein. (from UniProt)
HgeneTgene
RFWD3

Q6PCD5

STK31

Q9BXU1

E3 ubiquitin-protein ligase required for the repair ofDNA interstrand cross-links (ICL) in response to DNA damage(PubMed:21504906, PubMed:21558276, PubMed:26474068,PubMed:28575657, PubMed:28575658). Plays a key role in RPA-mediated DNA damage signaling and repair (PubMed:21504906,PubMed:21558276, PubMed:26474068, PubMed:28575657,PubMed:28575658). Acts by mediating ubiquitination of the RPAcomplex (RPA1, RPA2 and RPA3 subunits) and RAD51 at stalledreplication forks, leading to remove them from DNA damage sitesand promote homologous recombination (PubMed:26474068,PubMed:28575657, PubMed:28575658). Also mediates theubiquitination of p53/TP53 in the late response to DNA damage, andacts as a positive regulator of p53/TP53 stability, therebyregulating the G1/S DNA damage checkpoint (PubMed:20173098). Mayact by catalyzing the formation of short polyubiquitin chains onp53/TP53 that are not targeted to the proteasome(PubMed:20173098). In response to ionizing radiation, interactswith MDM2 and enhances p53/TP53 ubiquitination, possibly byrestricting MDM2 from extending polyubiquitin chains onubiquitinated p53/TP53 (PubMed:20173098).{ECO:0000269|PubMed:20173098, ECO:0000269|PubMed:21504906,ECO:0000269|PubMed:21558276, ECO:0000269|PubMed:26474068,ECO:0000269|PubMed:28575657, ECO:0000269|PubMed:28575658}.

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 RFWD3_STK31


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 RFWD3_STK31


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
RFWD3UBE2D1, UBE2D2, UBE2D3, UBE2D4, UBE2E1, UBE2E3, UBE2N, UBE2W, RPA2, RPA1, RPA3, TP53, MDM2, ELAVL1, COA1, APP, HSP90AA1, LGR4, MOV10, NXF1, CEP170, DNAJB2, MBIP, FBXW7, XPO1, CANX, CCT6A, GLG1, HSPD1, MBNL1, PFDN1, PFDN2, TCP1, HSP90B1, CCT3, ATP6V0D1, HYOU1, CCT7, CCT4, CCT2, CCT8, CCT5, RNF41, LYAR, PIP4K2A, BBS7, CAMK1G, TPH1, RAD51STK31NEDD4, CLK1, FBXL17, SMURF1


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 RFWD3_STK31


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 RFWD3_STK31


check button Diseases associated with fusion partners.
(DisGeNet 4.0)
PartnerGeneDisease IDDisease name# pubmedsSource
HgeneRFWD3C1336708Testicular Germ Cell Tumor1CTD_human