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Fusion gene ID: 3923 |
FusionGeneSummary for BCAP31_SMAD2 |
 Fusion gene summary |
| Fusion gene information | Fusion gene name: BCAP31_SMAD2 | Fusion gene ID: 3923 | Hgene | Tgene | Gene symbol | BCAP31 | SMAD2 | Gene ID | 10134 | 4087 |
| Gene name | B cell receptor associated protein 31 | SMAD family member 2 | |
| Synonyms | 6C6-AG|BAP31|CDM|DDCH|DXS1357E | JV18|JV18-1|MADH2|MADR2|hMAD-2|hSMAD2 | |
| Cytomap | Xq28 | 18q21.1 | |
| Type of gene | protein-coding | protein-coding | |
| Description | B-cell receptor-associated protein 316C6-AG tumor-associated antigenBCR-associated protein Bap31p28 Bap31 | mothers against decapentaplegic homolog 2MAD homolog 2SMAD, mothers against DPP homolog 2Sma- and Mad-related protein 2mother against DPP homolog 2 | |
| Modification date | 20180523 | 20180522 | |
| UniProtAcc | P51572 | Q15796 | |
| Ensembl transtripts involved in fusion gene | ENST00000441714, ENST00000345046, ENST00000458587, ENST00000468947, | ENST00000262160, ENST00000402690, ENST00000356825, ENST00000586040, ENST00000591214, ENST00000587353, | |
| Fusion gene scores | * DoF score | 6 X 7 X 4=168 | 1 X 1 X 1=1 |
| # samples | 8 | 1 | |
| ** MAII score | log2(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) |
| Gene ontology of each fusion partner gene with evidence of Inferred from Direct Assay (IDA) from Entrez |
| Partner | Gene | GO ID | GO term | PubMed ID |
| Hgene | BCAP31 | GO:1904154 | positive regulation of retrograde protein transport, ER to cytosol | 18555783 |
| Tgene | SMAD2 | GO:0007179 | transforming growth factor beta receptor signaling pathway | 8752209|9389648|9732876|18548003 |
| Tgene | SMAD2 | GO:0007182 | common-partner SMAD protein phosphorylation | 16806156 |
| Tgene | SMAD2 | GO:0007183 | SMAD protein complex assembly | 9111321 |
| Tgene | SMAD2 | GO:0045893 | positive regulation of transcription, DNA-templated | 9311995|9389648|9732876 |
| Tgene | SMAD2 | GO:0045944 | positive regulation of transcription by RNA polymerase II | 9389648 |
| Tgene | SMAD2 | GO:0070723 | response to cholesterol | 17878231 |
| 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 type | Source | Cancer type | Sample | Hgene | Hchr | Hbp | Hstrand | Tgene | Tchr | Tbp | Tstrand |
| ChiTaRS3.1 | BQ375829 | BCAP31 | chrX | 152981024 | - | SMAD2 | chr18 | 45372152 | - |
| * LD: Li Ding group's fusion gene list RV: Roel Verhaak group's fusion gene list ChiTaRs fusion database |
| 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. |
| ORF | Henst | Tenst | Hgene | Hchr | Hbp | Hstrand | Tgene | Tchr | Tbp | Tstrand |
| intron-3CDS | ENST00000441714 | ENST00000262160 | BCAP31 | chrX | 152981024 | - | SMAD2 | chr18 | 45372152 | - |
| intron-3CDS | ENST00000441714 | ENST00000402690 | BCAP31 | chrX | 152981024 | - | SMAD2 | chr18 | 45372152 | - |
| intron-3CDS | ENST00000441714 | ENST00000356825 | BCAP31 | chrX | 152981024 | - | SMAD2 | chr18 | 45372152 | - |
| intron-3CDS | ENST00000441714 | ENST00000586040 | BCAP31 | chrX | 152981024 | - | SMAD2 | chr18 | 45372152 | - |
| intron-3CDS | ENST00000441714 | ENST00000591214 | BCAP31 | chrX | 152981024 | - | SMAD2 | chr18 | 45372152 | - |
| intron-intron | ENST00000441714 | ENST00000587353 | BCAP31 | chrX | 152981024 | - | SMAD2 | chr18 | 45372152 | - |
| intron-3CDS | ENST00000345046 | ENST00000262160 | BCAP31 | chrX | 152981024 | - | SMAD2 | chr18 | 45372152 | - |
| intron-3CDS | ENST00000345046 | ENST00000402690 | BCAP31 | chrX | 152981024 | - | SMAD2 | chr18 | 45372152 | - |
| intron-3CDS | ENST00000345046 | ENST00000356825 | BCAP31 | chrX | 152981024 | - | SMAD2 | chr18 | 45372152 | - |
| intron-3CDS | ENST00000345046 | ENST00000586040 | BCAP31 | chrX | 152981024 | - | SMAD2 | chr18 | 45372152 | - |
| intron-3CDS | ENST00000345046 | ENST00000591214 | BCAP31 | chrX | 152981024 | - | SMAD2 | chr18 | 45372152 | - |
| intron-intron | ENST00000345046 | ENST00000587353 | BCAP31 | chrX | 152981024 | - | SMAD2 | chr18 | 45372152 | - |
| intron-3CDS | ENST00000458587 | ENST00000262160 | BCAP31 | chrX | 152981024 | - | SMAD2 | chr18 | 45372152 | - |
| intron-3CDS | ENST00000458587 | ENST00000402690 | BCAP31 | chrX | 152981024 | - | SMAD2 | chr18 | 45372152 | - |
| intron-3CDS | ENST00000458587 | ENST00000356825 | BCAP31 | chrX | 152981024 | - | SMAD2 | chr18 | 45372152 | - |
| intron-3CDS | ENST00000458587 | ENST00000586040 | BCAP31 | chrX | 152981024 | - | SMAD2 | chr18 | 45372152 | - |
| intron-3CDS | ENST00000458587 | ENST00000591214 | BCAP31 | chrX | 152981024 | - | SMAD2 | chr18 | 45372152 | - |
| intron-intron | ENST00000458587 | ENST00000587353 | BCAP31 | chrX | 152981024 | - | SMAD2 | chr18 | 45372152 | - |
| Frame-shift | ENST00000468947 | ENST00000262160 | BCAP31 | chrX | 152981024 | - | SMAD2 | chr18 | 45372152 | - |
| Frame-shift | ENST00000468947 | ENST00000402690 | BCAP31 | chrX | 152981024 | - | SMAD2 | chr18 | 45372152 | - |
| Frame-shift | ENST00000468947 | ENST00000356825 | BCAP31 | chrX | 152981024 | - | SMAD2 | chr18 | 45372152 | - |
| Frame-shift | ENST00000468947 | ENST00000586040 | BCAP31 | chrX | 152981024 | - | SMAD2 | chr18 | 45372152 | - |
| Frame-shift | ENST00000468947 | ENST00000591214 | BCAP31 | chrX | 152981024 | - | SMAD2 | chr18 | 45372152 | - |
| 5CDS-intron | ENST00000468947 | ENST00000587353 | BCAP31 | chrX | 152981024 | - | SMAD2 | chr18 | 45372152 | - |
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FusionProtFeatures for BCAP31_SMAD2 |
| Main function of each fusion partner protein. (from UniProt) |
| Hgene | Tgene |
| BCAP31 | SMAD2 |
| 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}. |
| Retention 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 . * 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. |
| Partner | Gene | Hbp | Tbp | ENST | Strand | BPexon | TotalExon | Protein feature loci | *BPloci | TotalLen | Protein feature | Protein feature note |
| - In-frame and not-retained protein feature among the 13 regional features. |
| Partner | Gene | Hbp | Tbp | ENST | Strand | BPexon | TotalExon | Protein feature loci | *BPloci | TotalLen | Protein feature | Protein feature note |
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FusionGeneSequence for BCAP31_SMAD2 |
| 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 |
| Go to ChiPPI (Chimeric Protein-Protein interactions) to see the chimeric PPI interaction in . |
| Protein-protein interactors with each fusion partner protein in wild-type (BIOGRID-3.4.160) |
| Hgene | Hgene's interactors | Tgene | Tgene's interactors |
| - Retained PPIs in in-frame fusion. |
| Partner | Gene | Hbp | Tbp | ENST | Strand | BPexon | TotalExon | Protein feature loci | *BPloci | TotalLen | Still interaction with |
| - Lost PPIs in in-frame fusion. |
| Partner | Gene | Hbp | Tbp | ENST | Strand | BPexon | TotalExon | Protein feature loci | *BPloci | TotalLen | Interaction lost with |
| - Retained PPIs, but lost function due to frame-shift fusion. |
| Partner | Gene | Hbp | Tbp | ENST | Strand | BPexon | TotalExon | Protein feature loci | *BPloci | TotalLen | Interaction lost with |
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RelatedDrugs for BCAP31_SMAD2 |
| Drugs targeting genes involved in this fusion gene. (DrugBank Version 5.1.0 2018-04-02) |
| Partner | Gene | UniProtAcc | DrugBank ID | Drug name | Drug activity | Drug type | Drug status |
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RelatedDiseases for BCAP31_SMAD2 |
| Diseases associated with fusion partners. (DisGeNet 4.0) |
| Partner | Gene | Disease ID | Disease name | # pubmeds | Source |
| Tgene | SMAD2 | C0376634 | Craniofacial Abnormalities | 2 | CTD_human |
| Tgene | SMAD2 | C0019189 | Hepatitis, Chronic | 1 | CTD_human |
| Tgene | SMAD2 | C0023893 | Liver Cirrhosis, Experimental | 1 | CTD_human |
| Tgene | SMAD2 | C0265287 | Acromicric Dysplasia | 1 | CTD_human |
| Tgene | SMAD2 | C0600519 | Ventricular Remodeling | 1 | CTD_human |
| Tgene | SMAD2 | C1876165 | Copper-Overload Cirrhosis | 1 | CTD_human |
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