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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: 3967

FusionGeneSummary for BCAS3_SMURF1

check button Fusion gene summary
Fusion gene informationFusion gene name: BCAS3_SMURF1
Fusion gene ID: 3967
HgeneTgene
Gene symbol

BCAS3

SMURF1

Gene ID

54828

57154

Gene nameBCAS3, microtubule associated cell migration factorSMAD specific E3 ubiquitin protein ligase 1
SynonymsGAOB1|MAAB-
Cytomap

17q23.2

7q22.1

Type of geneprotein-codingprotein-coding
Descriptionbreast carcinoma-amplified sequence 3BCAS4/BCAS3 fusionRudhirabreast carcinoma amplified sequence 4/3 fusion proteinmetastasis associated antigen of breast cancerprotein Maab1E3 ubiquitin-protein ligase SMURF1E3 ubiquitin ligase SMURF1HECT-type E3 ubiquitin transferase SMURF1Smad ubiquitination regulatory factor 1Smad-specific E3 ubiquitin ligase 1hSMURF1
Modification date2018052320180523
UniProtAcc

Q9H6U6

Q9HCE7

Ensembl transtripts involved in fusion geneENST00000589222, ENST00000407086, 
ENST00000390652, ENST00000408905, 
ENST00000588462, ENST00000585744, 
ENST00000588874, ENST00000585812, 
ENST00000361368, ENST00000361125, 
ENST00000480055, 
Fusion gene scores* DoF score40 X 23 X 15=138002 X 2 X 1=4
# samples 472
** MAII scorelog2(47/13800*10)=-4.87586369998789
possibly effective Gene in Pan-Cancer Fusion Genes (peGinPCFGs).
DoF>8 and MAII<0
log2(2/4*10)=2.32192809488736
Context

PubMed: BCAS3 [Title/Abstract] AND SMURF1 [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
HgeneBCAS3

GO:0043085

positive regulation of catalytic activity

17505058

HgeneBCAS3

GO:0045944

positive regulation of transcription by RNA polymerase II

17505058

HgeneBCAS3

GO:0071391

cellular response to estrogen stimulus

17505058

TgeneSMURF1

GO:0000209

protein polyubiquitination

19937093

TgeneSMURF1

GO:0006511

ubiquitin-dependent protein catabolic process

10458166|12151385|19937093

TgeneSMURF1

GO:0006611

protein export from nucleus

11278251

TgeneSMURF1

GO:0016567

protein ubiquitination

11278251

TgeneSMURF1

GO:0030154

cell differentiation

10458166

TgeneSMURF1

GO:0030509

BMP signaling pathway

21572392

TgeneSMURF1

GO:0030512

negative regulation of transforming growth factor beta receptor signaling pathway

11278251|12151385

TgeneSMURF1

GO:0030514

negative regulation of BMP signaling pathway

27214554

TgeneSMURF1

GO:0030579

ubiquitin-dependent SMAD protein catabolic process

11278251|12151385

TgeneSMURF1

GO:0032801

receptor catabolic process

12151385

TgeneSMURF1

GO:0034394

protein localization to cell surface

12151385

TgeneSMURF1

GO:0043161

proteasome-mediated ubiquitin-dependent protein catabolic process

11278251

TgeneSMURF1

GO:1903861

positive regulation of dendrite extension

23999003


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
ChiTaRS3.1CD675856BCAS3chr17

59308954

+SMURF1chr7

98720964

-
* 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
intron-intronENST00000589222ENST00000361368BCAS3chr17

59308954

+SMURF1chr7

98720964

-
intron-intronENST00000589222ENST00000361125BCAS3chr17

59308954

+SMURF1chr7

98720964

-
intron-intronENST00000589222ENST00000480055BCAS3chr17

59308954

+SMURF1chr7

98720964

-
intron-intronENST00000407086ENST00000361368BCAS3chr17

59308954

+SMURF1chr7

98720964

-
intron-intronENST00000407086ENST00000361125BCAS3chr17

59308954

+SMURF1chr7

98720964

-
intron-intronENST00000407086ENST00000480055BCAS3chr17

59308954

+SMURF1chr7

98720964

-
intron-intronENST00000390652ENST00000361368BCAS3chr17

59308954

+SMURF1chr7

98720964

-
intron-intronENST00000390652ENST00000361125BCAS3chr17

59308954

+SMURF1chr7

98720964

-
intron-intronENST00000390652ENST00000480055BCAS3chr17

59308954

+SMURF1chr7

98720964

-
intron-intronENST00000408905ENST00000361368BCAS3chr17

59308954

+SMURF1chr7

98720964

-
intron-intronENST00000408905ENST00000361125BCAS3chr17

59308954

+SMURF1chr7

98720964

-
intron-intronENST00000408905ENST00000480055BCAS3chr17

59308954

+SMURF1chr7

98720964

-
intron-intronENST00000588462ENST00000361368BCAS3chr17

59308954

+SMURF1chr7

98720964

-
intron-intronENST00000588462ENST00000361125BCAS3chr17

59308954

+SMURF1chr7

98720964

-
intron-intronENST00000588462ENST00000480055BCAS3chr17

59308954

+SMURF1chr7

98720964

-
intron-intronENST00000585744ENST00000361368BCAS3chr17

59308954

+SMURF1chr7

98720964

-
intron-intronENST00000585744ENST00000361125BCAS3chr17

59308954

+SMURF1chr7

98720964

-
intron-intronENST00000585744ENST00000480055BCAS3chr17

59308954

+SMURF1chr7

98720964

-
intron-intronENST00000588874ENST00000361368BCAS3chr17

59308954

+SMURF1chr7

98720964

-
intron-intronENST00000588874ENST00000361125BCAS3chr17

59308954

+SMURF1chr7

98720964

-
intron-intronENST00000588874ENST00000480055BCAS3chr17

59308954

+SMURF1chr7

98720964

-
intron-intronENST00000585812ENST00000361368BCAS3chr17

59308954

+SMURF1chr7

98720964

-
intron-intronENST00000585812ENST00000361125BCAS3chr17

59308954

+SMURF1chr7

98720964

-
intron-intronENST00000585812ENST00000480055BCAS3chr17

59308954

+SMURF1chr7

98720964

-

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FusionProtFeatures for BCAS3_SMURF1


check buttonMain function of each fusion partner protein. (from UniProt)
HgeneTgene
BCAS3

Q9H6U6

SMURF1

Q9HCE7

E3 ubiquitin-protein ligase that acts as a negativeregulator of BMP signaling pathway. Mediates ubiquitination anddegradation of SMAD1 and SMAD5, 2 receptor-regulated SMADsspecific for the BMP pathway. Promotes ubiquitination andsubsequent proteasomal degradation of TRAF family members andRHOA. Promotes ubiquitination and subsequent proteasomaldegradation of MAVS (PubMed:23087404). Plays a role in dendriteformation by melanocytes (PubMed:23999003).{ECO:0000269|PubMed:10458166, ECO:0000269|PubMed:19937093,ECO:0000269|PubMed:21402695, ECO:0000269|PubMed:23087404,ECO:0000269|PubMed:23999003}.

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 BCAS3_SMURF1


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 BCAS3_SMURF1


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


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 BCAS3_SMURF1


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 BCAS3_SMURF1


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