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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: 30712

FusionGeneSummary for RBM17_TWSG1

check button Fusion gene summary
Fusion gene informationFusion gene name: RBM17_TWSG1
Fusion gene ID: 30712
HgeneTgene
Gene symbol

RBM17

TWSG1

Gene ID

84991

57045

Gene nameRNA binding motif protein 17twisted gastrulation BMP signaling modulator 1
SynonymsSPF45TSG
Cytomap

10p15.1

18p11.22

Type of geneprotein-codingprotein-coding
Descriptionsplicing factor 4545 kDa-splicing factorsplicing factor 45kDatwisted gastrulation protein homolog 1twisted gastrulation homolog 1
Modification date2018052320180519
UniProtAcc

Q96I25

Q9GZX9

Ensembl transtripts involved in fusion geneENST00000379888, ENST00000446108, 
ENST00000476706, 
ENST00000262120, 
ENST00000581641, 
Fusion gene scores* DoF score4 X 3 X 4=483 X 2 X 3=18
# samples 43
** MAII scorelog2(4/48*10)=-0.263034405833794
possibly effective Gene in Pan-Cancer Fusion Genes (peGinPCFGs).
DoF>8 and MAII<0
log2(3/18*10)=0.736965594166206
effective Gene in Pan-Cancer Fusion Genes (eGinPCFGs).
DoF>8 and MAII>0
Context

PubMed: RBM17 [Title/Abstract] AND TWSG1 [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
TgeneTWSG1

GO:0001818

negative regulation of cytokine production

17164348

TgeneTWSG1

GO:0007179

transforming growth factor beta receptor signaling pathway

17164348

TgeneTWSG1

GO:0010862

positive regulation of pathway-restricted SMAD protein phosphorylation

17164348

TgeneTWSG1

GO:2000515

negative regulation of CD4-positive, alpha-beta T cell activation

17164348

TgeneTWSG1

GO:2000562

negative regulation of CD4-positive, alpha-beta T cell proliferation

17164348


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-55-7574-01ARBM17chr10

6131156

+TWSG1chr18

9337191

+
* 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-5UTRENST00000379888ENST00000262120RBM17chr10

6131156

+TWSG1chr18

9337191

+
5UTR-5UTRENST00000379888ENST00000581641RBM17chr10

6131156

+TWSG1chr18

9337191

+
intron-5UTRENST00000446108ENST00000262120RBM17chr10

6131156

+TWSG1chr18

9337191

+
intron-5UTRENST00000446108ENST00000581641RBM17chr10

6131156

+TWSG1chr18

9337191

+
intron-5UTRENST00000476706ENST00000262120RBM17chr10

6131156

+TWSG1chr18

9337191

+
intron-5UTRENST00000476706ENST00000581641RBM17chr10

6131156

+TWSG1chr18

9337191

+

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FusionProtFeatures for RBM17_TWSG1


check buttonMain function of each fusion partner protein. (from UniProt)
HgeneTgene
RBM17

Q96I25

TWSG1

Q9GZX9

Splice factor that binds to the single-stranded 3'AG atthe exon/intron border and promotes its utilization in the secondcatalytic step. Involved in the regulation of alternative splicingand the utilization of cryptic splice sites. Promotes theutilization of a cryptic splice site created by the beta-110mutation in the HBB gene. The resulting frameshift leads to sicklecell anemia. {ECO:0000269|PubMed:12015979,ECO:0000269|PubMed:17589525}. May be involved in dorsoventral axis formation. Seems toantagonize BMP signaling by forming ternary complexes with CHRDand BMPs, thereby preventing BMPs from binding to their receptors.In addition to the anti-BMP function, also has pro-BMP activity,partly mediated by cleavage and degradation of CHRD, whichreleases BMPs from ternary complexes. May be an importantmodulator of BMP-regulated cartilage development and chondrocytedifferentiation. May play a role in thymocyte development (Bysimilarity). {ECO:0000250}.

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 RBM17_TWSG1


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 RBM17_TWSG1


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
RBM17SAT1, SF3A2, ELAVL1, CUL3, CDK2, HINFP, BARD1, MDC1, SMURF1, SF3B1, DHX15, U2SURP, SF1, SUGP1, CWC15, SAP30BP, CSNK2A1, APBB1, GOLGA2, CCHCR1, PPP1R12C, QRICH1, CEP55, KIAA1683, FAM9B, OBSL1, WDFY2, ZRSR2, SON, LNX2, XPO1, HIST1H3E, MYO1C, PPP3CB, XRCC3, EMC2, MMGT1, SNW1, CDC5L, DPPA4, NANOG, POU5F1, CHERP, ZRSR1, SFSWAP, RBM5, GPATCH11, SF3A3, SF3A1, SF3B2, ACTA2, ACTBL2, RBM10, CYLD, FOXA1TWSG1BMP4, CHRD, SGTA, MOV10, TENC1


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 RBM17_TWSG1


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 RBM17_TWSG1


check button Diseases associated with fusion partners.
(DisGeNet 4.0)
PartnerGeneDisease IDDisease name# pubmedsSource
HgeneRBM17C0087012Ataxia, Spinocerebellar1CTD_human
TgeneTWSG1C0022360Jaw Abnormalities1CTD_human
TgeneTWSG1C0079541Holoprosencephaly1CTD_human