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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: 3923

FusionGeneSummary for BCAP31_SMAD2

check button Fusion gene summary
Fusion gene informationFusion gene name: BCAP31_SMAD2
Fusion gene ID: 3923
HgeneTgene
Gene symbol

BCAP31

SMAD2

Gene ID

10134

4087

Gene nameB cell receptor associated protein 31SMAD family member 2
Synonyms6C6-AG|BAP31|CDM|DDCH|DXS1357EJV18|JV18-1|MADH2|MADR2|hMAD-2|hSMAD2
Cytomap

Xq28

18q21.1

Type of geneprotein-codingprotein-coding
DescriptionB-cell receptor-associated protein 316C6-AG tumor-associated antigenBCR-associated protein Bap31p28 Bap31mothers against decapentaplegic homolog 2MAD homolog 2SMAD, mothers against DPP homolog 2Sma- and Mad-related protein 2mother against DPP homolog 2
Modification date2018052320180522
UniProtAcc

P51572

Q15796

Ensembl transtripts involved in fusion geneENST00000441714, ENST00000345046, 
ENST00000458587, ENST00000468947, 
ENST00000262160, ENST00000402690, 
ENST00000356825, ENST00000586040, 
ENST00000591214, ENST00000587353, 
Fusion gene scores* DoF score6 X 7 X 4=1681 X 1 X 1=1
# samples 81
** MAII scorelog2(8/168*10)=-1.0703893278914
possibly effective Gene in Pan-Cancer Fusion Genes (peGinPCFGs).
DoF>8 and MAII<0
log2(1/1*10)=3.32192809488736
Context

PubMed: BCAP31 [Title/Abstract] AND SMAD2 [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
HgeneBCAP31

GO:1904154

positive regulation of retrograde protein transport, ER to cytosol

18555783

TgeneSMAD2

GO:0007179

transforming growth factor beta receptor signaling pathway

8752209|9389648|9732876|18548003

TgeneSMAD2

GO:0007182

common-partner SMAD protein phosphorylation

16806156

TgeneSMAD2

GO:0007183

SMAD protein complex assembly

9111321

TgeneSMAD2

GO:0045893

positive regulation of transcription, DNA-templated

9311995|9389648|9732876

TgeneSMAD2

GO:0045944

positive regulation of transcription by RNA polymerase II

9389648

TgeneSMAD2

GO:0070723

response to cholesterol

17878231


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
ChiTaRS3.1BQ375829BCAP31chrX

152981024

-SMAD2chr18

45372152

-
* 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-3CDSENST00000441714ENST00000262160BCAP31chrX

152981024

-SMAD2chr18

45372152

-
intron-3CDSENST00000441714ENST00000402690BCAP31chrX

152981024

-SMAD2chr18

45372152

-
intron-3CDSENST00000441714ENST00000356825BCAP31chrX

152981024

-SMAD2chr18

45372152

-
intron-3CDSENST00000441714ENST00000586040BCAP31chrX

152981024

-SMAD2chr18

45372152

-
intron-3CDSENST00000441714ENST00000591214BCAP31chrX

152981024

-SMAD2chr18

45372152

-
intron-intronENST00000441714ENST00000587353BCAP31chrX

152981024

-SMAD2chr18

45372152

-
intron-3CDSENST00000345046ENST00000262160BCAP31chrX

152981024

-SMAD2chr18

45372152

-
intron-3CDSENST00000345046ENST00000402690BCAP31chrX

152981024

-SMAD2chr18

45372152

-
intron-3CDSENST00000345046ENST00000356825BCAP31chrX

152981024

-SMAD2chr18

45372152

-
intron-3CDSENST00000345046ENST00000586040BCAP31chrX

152981024

-SMAD2chr18

45372152

-
intron-3CDSENST00000345046ENST00000591214BCAP31chrX

152981024

-SMAD2chr18

45372152

-
intron-intronENST00000345046ENST00000587353BCAP31chrX

152981024

-SMAD2chr18

45372152

-
intron-3CDSENST00000458587ENST00000262160BCAP31chrX

152981024

-SMAD2chr18

45372152

-
intron-3CDSENST00000458587ENST00000402690BCAP31chrX

152981024

-SMAD2chr18

45372152

-
intron-3CDSENST00000458587ENST00000356825BCAP31chrX

152981024

-SMAD2chr18

45372152

-
intron-3CDSENST00000458587ENST00000586040BCAP31chrX

152981024

-SMAD2chr18

45372152

-
intron-3CDSENST00000458587ENST00000591214BCAP31chrX

152981024

-SMAD2chr18

45372152

-
intron-intronENST00000458587ENST00000587353BCAP31chrX

152981024

-SMAD2chr18

45372152

-
Frame-shitENST00000468947ENST00000262160BCAP31chrX

152981024

-SMAD2chr18

45372152

-
Frame-shitENST00000468947ENST00000402690BCAP31chrX

152981024

-SMAD2chr18

45372152

-
Frame-shitENST00000468947ENST00000356825BCAP31chrX

152981024

-SMAD2chr18

45372152

-
Frame-shitENST00000468947ENST00000586040BCAP31chrX

152981024

-SMAD2chr18

45372152

-
Frame-shitENST00000468947ENST00000591214BCAP31chrX

152981024

-SMAD2chr18

45372152

-
5CDS-intronENST00000468947ENST00000587353BCAP31chrX

152981024

-SMAD2chr18

45372152

-

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FusionProtFeatures for BCAP31_SMAD2


check buttonMain function of each fusion partner protein. (from UniProt)
HgeneTgene
BCAP31

P51572

SMAD2

Q15796

Functions as a chaperone protein. Is one of the mostabundant endoplasmic reticulum (ER) proteins. Plays a role in theexport of secreted proteins in the ER, the recognition ofabnormally folded protein and their targeting to the ERassociated-degradation (ERAD). Also serves as a cargo receptor forthe export of transmembrane proteins. May be involved in CASP8-mediated apoptosis. {ECO:0000269|PubMed:10958671,ECO:0000269|PubMed:18287538, ECO:0000269|PubMed:9396746}. Receptor-regulated SMAD (R-SMAD) that is anintracellular signal transducer and transcriptional modulatoractivated by TGF-beta (transforming growth factor) and activintype 1 receptor kinases. Binds the TRE element in the promoterregion of many genes that are regulated by TGF-beta and, onformation of the SMAD2/SMAD4 complex, activates transcription. Mayact as a tumor suppressor in colorectal carcinoma. Positivelyregulates PDPK1 kinase activity by stimulating its dissociationfrom the 14-3-3 protein YWHAQ which acts as a negative regulator.{ECO:0000269|PubMed:16751101, ECO:0000269|PubMed:16862174,ECO:0000269|PubMed:17327236, ECO:0000269|PubMed:19289081,ECO:0000269|PubMed:9892009}.

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 BCAP31_SMAD2


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 BCAP31_SMAD2


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 BCAP31_SMAD2


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 BCAP31_SMAD2


check button Diseases associated with fusion partners.
(DisGeNet 4.0)
PartnerGeneDisease IDDisease name# pubmedsSource
TgeneSMAD2C0376634Craniofacial Abnormalities2CTD_human
TgeneSMAD2C0019189Hepatitis, Chronic1CTD_human
TgeneSMAD2C0023893Liver Cirrhosis, Experimental1CTD_human
TgeneSMAD2C0265287Acromicric Dysplasia1CTD_human
TgeneSMAD2C0600519Ventricular Remodeling1CTD_human
TgeneSMAD2C1876165Copper-Overload Cirrhosis1CTD_human