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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: 36844

FusionGeneSummary for SVIL_RFC5

check button Fusion gene summary
Fusion gene informationFusion gene name: SVIL_RFC5
Fusion gene ID: 36844
HgeneTgene
Gene symbol

SVIL

RFC5

Gene ID

6840

5985

Gene namesupervillinreplication factor C subunit 5
Synonyms-RFC36
Cytomap

10p11.23

12q24.23

Type of geneprotein-codingprotein-coding
Descriptionsupervillinarchvillinmembrane-associated F-actin binding protein p205p205/p250replication factor C subunit 5A1 36 kDa subunitRF-C 36 kDa subunitRFC, 36.5 kD subunitreplication factor C (activator 1) 5, 36.5kDareplication factor C, 36-kDa subunit
Modification date2018051920180523
UniProtAcc

O95425

P40937

Ensembl transtripts involved in fusion geneENST00000375400, ENST00000375398, 
ENST00000355867, ENST00000535393, 
ENST00000460007, ENST00000538146, 
ENST00000229043, ENST00000454402, 
ENST00000392542, ENST00000543153, 
Fusion gene scores* DoF score8 X 8 X 4=2563 X 3 X 3=27
# samples 123
** MAII scorelog2(12/256*10)=-1.09310940439148
possibly effective Gene in Pan-Cancer Fusion Genes (peGinPCFGs).
DoF>8 and MAII<0
log2(3/27*10)=0.15200309344505
effective Gene in Pan-Cancer Fusion Genes (eGinPCFGs).
DoF>8 and MAII>0
Context

PubMed: SVIL [Title/Abstract] AND RFC5 [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
TgeneRFC5

GO:1900264

positive regulation of DNA-directed DNA polymerase activity

12930902


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-CH-5791-01ASVILchr10

30024680

-RFC5chr12

118456877

+
* 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-5UTRENST00000375400ENST00000229043SVILchr10

30024680

-RFC5chr12

118456877

+
5UTR-5UTRENST00000375400ENST00000454402SVILchr10

30024680

-RFC5chr12

118456877

+
5UTR-5UTRENST00000375400ENST00000392542SVILchr10

30024680

-RFC5chr12

118456877

+
5UTR-intronENST00000375400ENST00000543153SVILchr10

30024680

-RFC5chr12

118456877

+
5UTR-5UTRENST00000375398ENST00000229043SVILchr10

30024680

-RFC5chr12

118456877

+
5UTR-5UTRENST00000375398ENST00000454402SVILchr10

30024680

-RFC5chr12

118456877

+
5UTR-5UTRENST00000375398ENST00000392542SVILchr10

30024680

-RFC5chr12

118456877

+
5UTR-intronENST00000375398ENST00000543153SVILchr10

30024680

-RFC5chr12

118456877

+
intron-5UTRENST00000355867ENST00000229043SVILchr10

30024680

-RFC5chr12

118456877

+
intron-5UTRENST00000355867ENST00000454402SVILchr10

30024680

-RFC5chr12

118456877

+
intron-5UTRENST00000355867ENST00000392542SVILchr10

30024680

-RFC5chr12

118456877

+
intron-intronENST00000355867ENST00000543153SVILchr10

30024680

-RFC5chr12

118456877

+
intron-5UTRENST00000535393ENST00000229043SVILchr10

30024680

-RFC5chr12

118456877

+
intron-5UTRENST00000535393ENST00000454402SVILchr10

30024680

-RFC5chr12

118456877

+
intron-5UTRENST00000535393ENST00000392542SVILchr10

30024680

-RFC5chr12

118456877

+
intron-intronENST00000535393ENST00000543153SVILchr10

30024680

-RFC5chr12

118456877

+
intron-5UTRENST00000460007ENST00000229043SVILchr10

30024680

-RFC5chr12

118456877

+
intron-5UTRENST00000460007ENST00000454402SVILchr10

30024680

-RFC5chr12

118456877

+
intron-5UTRENST00000460007ENST00000392542SVILchr10

30024680

-RFC5chr12

118456877

+
intron-intronENST00000460007ENST00000543153SVILchr10

30024680

-RFC5chr12

118456877

+
intron-5UTRENST00000538146ENST00000229043SVILchr10

30024680

-RFC5chr12

118456877

+
intron-5UTRENST00000538146ENST00000454402SVILchr10

30024680

-RFC5chr12

118456877

+
intron-5UTRENST00000538146ENST00000392542SVILchr10

30024680

-RFC5chr12

118456877

+
intron-intronENST00000538146ENST00000543153SVILchr10

30024680

-RFC5chr12

118456877

+

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FusionProtFeatures for SVIL_RFC5


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

O95425

RFC5

P40937

Isoform 1: Forms a high-affinity link between the actincytoskeleton and the membrane. Is among the first costamericproteins to assemble during myogenesis and it contributes tomyogenic membrane structure and differentiation (PubMed:12711699).Appears to be involved in myosin II assembly. May modulate myosinII regulation through MLCK during cell spreading, an initial stepin cell migration. May play a role in invadopodial function(PubMed:19109420). {ECO:0000269|PubMed:12711699,ECO:0000269|PubMed:19109420}. Isoform 2: May be involved in modulation of focaladhesions. Supervillin-mediated down-regulation of focal adhesionsinvolves binding to TRIP6. Plays a role in cytokinesis throughKIF14 interaction (By similarity). {ECO:0000250|UniProtKB:O46385}. The elongation of primed DNA templates by DNA polymerasedelta and epsilon requires the action of the accessory proteinsproliferating cell nuclear antigen (PCNA) and activator 1.{ECO:0000269|PubMed:8999859}.

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 SVIL_RFC5


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 SVIL_RFC5


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
SVILLUC7L2, AR, ESR1, PPARG, NR3C1, KRT18, MIF4GD, UXT, ITGB3BP, BUB1, CENPF, FLNA, HAX1, HSP90AA1, KIFC3, LMNA, LMNB2, MPHOSPH9, NME2, ODF2, PAN3, PCNXL3, HMMR, TNFAIP1, LIMA1, ATRX, KIF14, MKL2, KMT2A, SH3PXD2A, KIF22, STARD9, SCAF4, OXCT1, VCL, COA7, PCMT1, SEPT9, NDUFV2, CFTR, TRIP6, DYNLT1, SPTBN1, SPTAN1, MYH2, CLTC, MYO1G, ACTN4, ACTN1, VIM, LYN, FLOT1, FLOT2, ACTB, GNAI1, GNB1, STOM, GPSM3, MYL12A, CALM1, GLIPR2, PAN2, HDAC8, ASB15, ASB16, USP7, CCDC8, DAPK1, LUZP4, CAPZA2, KRAS, IFI16, NINL, NIN, ADD1, CD14, CDK2, CENPE, DBN1, LLGL2, MYH9, MYH11, MYO1C, PPP1CB, PPP1CC, DNAJC7, MYH13, IQGAP1, PDLIM7, ACTR2, NES, SYNPO, MAPRE1, ANLN, MYO5C, MYO19, KLC3, MYO18A, CFAP97, CDH1, SSH1, TMOD3, TESRFC5RFC4, CD40, RAD17, CHTF18, MED31, COPS6, RBM48, EEF1A1, LRIF1, UNC119, BRD4, RFC2, PCNA, RFC1, RUVBL2, RPAP3, MEPCE, UBC, MYC, PIDD1, SMARCAD1, HDGF, CUL3, CAND1, RFC3, MTMR2, ECT2, MDC1, VCP, MMS19, FBXO6, RPA1, RPA2, RPA3, HUWE1, XIAP, NAB2, TRIM38, CCDC8, EED, EGFR, DSCC1, GTF2B, NMD3, PSMC4, NTRK1, OFD1, MKS1, SPICE1, CENPJ, HNRNPU, RPL10, NOP56, SNW1, CDC5L, NFATC1, NFATC2, ZNF746, ATAD5, CHTF8, RB1, IL13RA2, MCM9


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 SVIL_RFC5


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 SVIL_RFC5


check button Diseases associated with fusion partners.
(DisGeNet 4.0)
PartnerGeneDisease IDDisease name# pubmedsSource
HgeneSVILC0023467Leukemia, Myelocytic, Acute1CTD_human