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Fusion gene ID: 34743 |
FusionGeneSummary for SMAD3_PHLDB1 |
 Fusion gene summary |
| Fusion gene information | Fusion gene name: SMAD3_PHLDB1 | Fusion gene ID: 34743 | Hgene | Tgene | Gene symbol | SMAD3 | PHLDB1 | Gene ID | 4088 | 23187 |
| Gene name | SMAD family member 3 | pleckstrin homology like domain family B member 1 | |
| Synonyms | HSPC193|HsT17436|JV15-2|LDS1C|LDS3|MADH3 | LL5A | |
| Cytomap | 15q22.33 | 11q23.3 | |
| Type of gene | protein-coding | protein-coding | |
| Description | mothers against decapentaplegic homolog 3MAD homolog 3MAD, mothers against decapentaplegic homolog 3SMA- and MAD-related protein 3SMAD, mothers against DPP homolog 3hMAD-3hSMAD3mad homolog JV15-2mad protein homologmad3mothers against DPP homolog | pleckstrin homology-like domain family B member 1LL5alphapleckstrin homology-like domain family B member 1 variant 3pleckstrin homology-like domain family B member 1 variant 4protein LL5-alpha | |
| Modification date | 20180522 | 20180520 | |
| UniProtAcc | P84022 | Q86UU1 | |
| Ensembl transtripts involved in fusion gene | ENST00000327367, ENST00000559092, ENST00000540846, ENST00000439724, ENST00000537194, | ENST00000361417, ENST00000356063, ENST00000534672, ENST00000527898, ENST00000524713, | |
| Fusion gene scores | * DoF score | 15 X 10 X 10=1500 | 4 X 5 X 3=60 |
| # samples | 22 | 6 | |
| ** MAII score | log2(22/1500*10)=-2.76938707185858 possibly effective Gene in Pan-Cancer Fusion Genes (peGinPCFGs). DoF>8 and MAII<0 | log2(6/60*10)=0 | |
| Context | PubMed: SMAD3 [Title/Abstract] AND PHLDB1 [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 | SMAD3 | GO:0000122 | negative regulation of transcription by RNA polymerase II | 8774881 |
| Hgene | SMAD3 | GO:0006357 | regulation of transcription by RNA polymerase II | 21947082 |
| Hgene | SMAD3 | GO:0007179 | transforming growth factor beta receptor signaling pathway | 9732876|18548003|21947082 |
| Hgene | SMAD3 | GO:0007183 | SMAD protein complex assembly | 9111321|10823886 |
| Hgene | SMAD3 | GO:0010628 | positive regulation of gene expression | 21307346 |
| Hgene | SMAD3 | GO:0010718 | positive regulation of epithelial to mesenchymal transition | 21307346 |
| Hgene | SMAD3 | GO:0019049 | evasion or tolerance of host defenses by virus | 15334054 |
| Hgene | SMAD3 | GO:0030308 | negative regulation of cell growth | 8774881 |
| Hgene | SMAD3 | GO:0045429 | positive regulation of nitric oxide biosynthetic process | 27038547 |
| Hgene | SMAD3 | GO:0045599 | negative regulation of fat cell differentiation | 19816956 |
| Hgene | SMAD3 | GO:0045893 | positive regulation of transcription, DNA-templated | 9111321|9311995|9732876 |
| Hgene | SMAD3 | GO:0045944 | positive regulation of transcription by RNA polymerase II | 8774881|18832382 |
| Hgene | SMAD3 | GO:0051481 | negative regulation of cytosolic calcium ion concentration | 27038547 |
| Hgene | SMAD3 | GO:0071560 | cellular response to transforming growth factor beta stimulus | 12902338 |
| Hgene | SMAD3 | GO:1901203 | positive regulation of extracellular matrix assembly | 21307346 |
| 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 | BE718772 | SMAD3 | chr15 | 67472353 | - | PHLDB1 | chr11 | 118518674 | - |
| * 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 | ENST00000327367 | ENST00000361417 | SMAD3 | chr15 | 67472353 | - | PHLDB1 | chr11 | 118518674 | - |
| intron-3CDS | ENST00000327367 | ENST00000356063 | SMAD3 | chr15 | 67472353 | - | PHLDB1 | chr11 | 118518674 | - |
| intron-3UTR | ENST00000327367 | ENST00000534672 | SMAD3 | chr15 | 67472353 | - | PHLDB1 | chr11 | 118518674 | - |
| intron-3UTR | ENST00000327367 | ENST00000527898 | SMAD3 | chr15 | 67472353 | - | PHLDB1 | chr11 | 118518674 | - |
| intron-3UTR | ENST00000327367 | ENST00000524713 | SMAD3 | chr15 | 67472353 | - | PHLDB1 | chr11 | 118518674 | - |
| intron-3CDS | ENST00000559092 | ENST00000361417 | SMAD3 | chr15 | 67472353 | - | PHLDB1 | chr11 | 118518674 | - |
| intron-3CDS | ENST00000559092 | ENST00000356063 | SMAD3 | chr15 | 67472353 | - | PHLDB1 | chr11 | 118518674 | - |
| intron-3UTR | ENST00000559092 | ENST00000534672 | SMAD3 | chr15 | 67472353 | - | PHLDB1 | chr11 | 118518674 | - |
| intron-3UTR | ENST00000559092 | ENST00000527898 | SMAD3 | chr15 | 67472353 | - | PHLDB1 | chr11 | 118518674 | - |
| intron-3UTR | ENST00000559092 | ENST00000524713 | SMAD3 | chr15 | 67472353 | - | PHLDB1 | chr11 | 118518674 | - |
| intron-3CDS | ENST00000540846 | ENST00000361417 | SMAD3 | chr15 | 67472353 | - | PHLDB1 | chr11 | 118518674 | - |
| intron-3CDS | ENST00000540846 | ENST00000356063 | SMAD3 | chr15 | 67472353 | - | PHLDB1 | chr11 | 118518674 | - |
| intron-3UTR | ENST00000540846 | ENST00000534672 | SMAD3 | chr15 | 67472353 | - | PHLDB1 | chr11 | 118518674 | - |
| intron-3UTR | ENST00000540846 | ENST00000527898 | SMAD3 | chr15 | 67472353 | - | PHLDB1 | chr11 | 118518674 | - |
| intron-3UTR | ENST00000540846 | ENST00000524713 | SMAD3 | chr15 | 67472353 | - | PHLDB1 | chr11 | 118518674 | - |
| intron-3CDS | ENST00000439724 | ENST00000361417 | SMAD3 | chr15 | 67472353 | - | PHLDB1 | chr11 | 118518674 | - |
| intron-3CDS | ENST00000439724 | ENST00000356063 | SMAD3 | chr15 | 67472353 | - | PHLDB1 | chr11 | 118518674 | - |
| intron-3UTR | ENST00000439724 | ENST00000534672 | SMAD3 | chr15 | 67472353 | - | PHLDB1 | chr11 | 118518674 | - |
| intron-3UTR | ENST00000439724 | ENST00000527898 | SMAD3 | chr15 | 67472353 | - | PHLDB1 | chr11 | 118518674 | - |
| intron-3UTR | ENST00000439724 | ENST00000524713 | SMAD3 | chr15 | 67472353 | - | PHLDB1 | chr11 | 118518674 | - |
| intron-3CDS | ENST00000537194 | ENST00000361417 | SMAD3 | chr15 | 67472353 | - | PHLDB1 | chr11 | 118518674 | - |
| intron-3CDS | ENST00000537194 | ENST00000356063 | SMAD3 | chr15 | 67472353 | - | PHLDB1 | chr11 | 118518674 | - |
| intron-3UTR | ENST00000537194 | ENST00000534672 | SMAD3 | chr15 | 67472353 | - | PHLDB1 | chr11 | 118518674 | - |
| intron-3UTR | ENST00000537194 | ENST00000527898 | SMAD3 | chr15 | 67472353 | - | PHLDB1 | chr11 | 118518674 | - |
| intron-3UTR | ENST00000537194 | ENST00000524713 | SMAD3 | chr15 | 67472353 | - | PHLDB1 | chr11 | 118518674 | - |
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FusionProtFeatures for SMAD3_PHLDB1 |
| Main function of each fusion partner protein. (from UniProt) |
| Hgene | Tgene |
| SMAD3 | PHLDB1 |