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Fusion gene ID: 34750 |
FusionGeneSummary for SMAD4_NRG1 |
 Fusion gene summary |
| Fusion gene information | Fusion gene name: SMAD4_NRG1 | Fusion gene ID: 34750 | Hgene | Tgene | Gene symbol | SMAD4 | NRG1 | Gene ID | 4089 | 3084 |
| Gene name | SMAD family member 4 | neuregulin 1 | |
| Synonyms | DPC4|JIP|MADH4|MYHRS | ARIA|GGF|GGF2|HGL|HRG|HRG1|HRGA|MST131|MSTP131|NDF|NRG1-IT2|SMDF | |
| Cytomap | 18q21.2 | 8p12 | |
| Type of gene | protein-coding | protein-coding | |
| Description | mothers against decapentaplegic homolog 4MAD homolog 4SMAD, mothers against DPP homolog 4deleted in pancreatic carcinoma locus 4deletion target in pancreatic carcinoma 4mothers against decapentaplegic, Drosophila, homolog of, 4 | pro-neuregulin-1, membrane-bound isoformacetylcholine receptor-inducing activityglial growth factor 2heregulin, alpha (45kD, ERBB2 p185-activator)neu differentiation factorpro-NRG1sensory and motor neuron derived factor | |
| Modification date | 20180527 | 20180523 | |
| UniProtAcc | Q13485 | Q02297 | |
| Ensembl transtripts involved in fusion gene | ENST00000452201, ENST00000398417, ENST00000342988, ENST00000588745, ENST00000586253, | ENST00000519301, ENST00000520407, ENST00000523079, ENST00000338921, ENST00000356819, ENST00000287845, ENST00000341377, ENST00000287842, ENST00000521670, ENST00000405005, ENST00000520502, ENST00000539990, ENST00000523681, | |
| Fusion gene scores | * DoF score | 5 X 5 X 4=100 | 16 X 6 X 11=1056 |
| # samples | 5 | 16 | |
| ** MAII score | log2(5/100*10)=-1 possibly effective Gene in Pan-Cancer Fusion Genes (peGinPCFGs). DoF>8 and MAII<0 | log2(16/1056*10)=-2.72246602447109 possibly effective Gene in Pan-Cancer Fusion Genes (peGinPCFGs). DoF>8 and MAII<0 | |
| Context | PubMed: SMAD4 [Title/Abstract] AND NRG1 [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 | SMAD4 | GO:0007179 | transforming growth factor beta receptor signaling pathway | 9389648|9732876 |
| Hgene | SMAD4 | GO:0007183 | SMAD protein complex assembly | 10823886 |
| Hgene | SMAD4 | GO:0030308 | negative regulation of cell growth | 8774881 |
| Hgene | SMAD4 | GO:0030509 | BMP signaling pathway | 9389648 |
| Hgene | SMAD4 | GO:0030511 | positive regulation of transforming growth factor beta receptor signaling pathway | 19328798 |
| Hgene | SMAD4 | GO:0045892 | negative regulation of transcription, DNA-templated | 8774881 |
| Hgene | SMAD4 | GO:0045893 | positive regulation of transcription, DNA-templated | 8774881|9311995|9389648|9707553|9732876 |
| Hgene | SMAD4 | GO:0045944 | positive regulation of transcription by RNA polymerase II | 9389648|18832382 |
| Hgene | SMAD4 | GO:0060395 | SMAD protein signal transduction | 9707553|9732876 |
| Hgene | SMAD4 | GO:0071559 | response to transforming growth factor beta | 9707553 |
| Tgene | NRG1 | GO:0003222 | ventricular trabecula myocardium morphogenesis | 17336907 |
| Tgene | NRG1 | GO:0038127 | ERBB signaling pathway | 11389077 |
| Tgene | NRG1 | GO:0038129 | ERBB3 signaling pathway | 27353365 |
| Tgene | NRG1 | GO:0043497 | regulation of protein heterodimerization activity | 10559227 |
| Tgene | NRG1 | GO:0045892 | negative regulation of transcription, DNA-templated | 15073182 |
| Tgene | NRG1 | GO:0051048 | negative regulation of secretion | 10559227 |
| Tgene | NRG1 | GO:0060379 | cardiac muscle cell myoblast differentiation | 17336907 |
| Tgene | NRG1 | GO:0060956 | endocardial cell differentiation | 17336907 |
| 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 |
| TCGA | RV | LUSC | TCGA-63-A5MP-01A | SMAD4 | chr18 | 48556993 | + | NRG1 | chr8 | 32585467 | + |
| * 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 | ENST00000452201 | ENST00000519301 | SMAD4 | chr18 | 48556993 | + | NRG1 | chr8 | 32585467 | + |
| intron-3CDS | ENST00000452201 | ENST00000520407 | SMAD4 | chr18 | 48556993 | + | NRG1 | chr8 | 32585467 | + |
| intron-3CDS | ENST00000452201 | ENST00000523079 | SMAD4 | chr18 | 48556993 | + | NRG1 | chr8 | 32585467 | + |
| intron-3CDS | ENST00000452201 | ENST00000338921 | SMAD4 | chr18 | 48556993 | + | NRG1 | chr8 | 32585467 | + |
| intron-3CDS | ENST00000452201 | ENST00000356819 | SMAD4 | chr18 | 48556993 | + | NRG1 | chr8 | 32585467 | + |
| intron-3CDS | ENST00000452201 | ENST00000287845 | SMAD4 | chr18 | 48556993 | + | NRG1 | chr8 | 32585467 | + |
| intron-3CDS | ENST00000452201 | ENST00000341377 | SMAD4 | chr18 | 48556993 | + | NRG1 | chr8 | 32585467 | + |
| intron-3CDS | ENST00000452201 | ENST00000287842 | SMAD4 | chr18 | 48556993 | + | NRG1 | chr8 | 32585467 | + |
| intron-3CDS | ENST00000452201 | ENST00000521670 | SMAD4 | chr18 | 48556993 | + | NRG1 | chr8 | 32585467 | + |
| intron-3CDS | ENST00000452201 | ENST00000405005 | SMAD4 | chr18 | 48556993 | + | NRG1 | chr8 | 32585467 | + |
| intron-3CDS | ENST00000452201 | ENST00000520502 | SMAD4 | chr18 | 48556993 | + | NRG1 | chr8 | 32585467 | + |
| intron-3CDS | ENST00000452201 | ENST00000539990 | SMAD4 | chr18 | 48556993 | + | NRG1 | chr8 | 32585467 | + |
| intron-intron | ENST00000452201 | ENST00000523681 | SMAD4 | chr18 | 48556993 | + | NRG1 | chr8 | 32585467 | + |
| intron-3CDS | ENST00000398417 | ENST00000519301 | SMAD4 | chr18 | 48556993 | + | NRG1 | chr8 | 32585467 | + |
| intron-3CDS | ENST00000398417 | ENST00000520407 | SMAD4 | chr18 | 48556993 | + | NRG1 | chr8 | 32585467 | + |
| intron-3CDS | ENST00000398417 | ENST00000523079 | SMAD4 | chr18 | 48556993 | + | NRG1 | chr8 | 32585467 | + |
| intron-3CDS | ENST00000398417 | ENST00000338921 | SMAD4 | chr18 | 48556993 | + | NRG1 | chr8 | 32585467 | + |
| intron-3CDS | ENST00000398417 | ENST00000356819 | SMAD4 | chr18 | 48556993 | + | NRG1 | chr8 | 32585467 | + |
| intron-3CDS | ENST00000398417 | ENST00000287845 | SMAD4 | chr18 | 48556993 | + | NRG1 | chr8 | 32585467 | + |
| intron-3CDS | ENST00000398417 | ENST00000341377 | SMAD4 | chr18 | 48556993 | + | NRG1 | chr8 | 32585467 | + |
| intron-3CDS | ENST00000398417 | ENST00000287842 | SMAD4 | chr18 | 48556993 | + | NRG1 | chr8 | 32585467 | + |
| intron-3CDS | ENST00000398417 | ENST00000521670 | SMAD4 | chr18 | 48556993 | + | NRG1 | chr8 | 32585467 | + |
| intron-3CDS | ENST00000398417 | ENST00000405005 | SMAD4 | chr18 | 48556993 | + | NRG1 | chr8 | 32585467 | + |
| intron-3CDS | ENST00000398417 | ENST00000520502 | SMAD4 | chr18 | 48556993 | + | NRG1 | chr8 | 32585467 | + |
| intron-3CDS | ENST00000398417 | ENST00000539990 | SMAD4 | chr18 | 48556993 | + | NRG1 | chr8 | 32585467 | + |
| intron-intron | ENST00000398417 | ENST00000523681 | SMAD4 | chr18 | 48556993 | + | NRG1 | chr8 | 32585467 | + |
| 5UTR-3CDS | ENST00000342988 | ENST00000519301 | SMAD4 | chr18 | 48556993 | + | NRG1 | chr8 | 32585467 | + |
| 5UTR-3CDS | ENST00000342988 | ENST00000520407 | SMAD4 | chr18 | 48556993 | + | NRG1 | chr8 | 32585467 | + |
| 5UTR-3CDS | ENST00000342988 | ENST00000523079 | SMAD4 | chr18 | 48556993 | + | NRG1 | chr8 | 32585467 | + |
| 5UTR-3CDS | ENST00000342988 | ENST00000338921 | SMAD4 | chr18 | 48556993 | + | NRG1 | chr8 | 32585467 | + |
| 5UTR-3CDS | ENST00000342988 | ENST00000356819 | SMAD4 | chr18 | 48556993 | + | NRG1 | chr8 | 32585467 | + |
| 5UTR-3CDS | ENST00000342988 | ENST00000287845 | SMAD4 | chr18 | 48556993 | + | NRG1 | chr8 | 32585467 | + |
| 5UTR-3CDS | ENST00000342988 | ENST00000341377 | SMAD4 | chr18 | 48556993 | + | NRG1 | chr8 | 32585467 | + |
| 5UTR-3CDS | ENST00000342988 | ENST00000287842 | SMAD4 | chr18 | 48556993 | + | NRG1 | chr8 | 32585467 | + |
| 5UTR-3CDS | ENST00000342988 | ENST00000521670 | SMAD4 | chr18 | 48556993 | + | NRG1 | chr8 | 32585467 | + |
| 5UTR-3CDS | ENST00000342988 | ENST00000405005 | SMAD4 | chr18 | 48556993 | + | NRG1 | chr8 | 32585467 | + |
| 5UTR-3CDS | ENST00000342988 | ENST00000520502 | SMAD4 | chr18 | 48556993 | + | NRG1 | chr8 | 32585467 | + |
| 5UTR-3CDS | ENST00000342988 | ENST00000539990 | SMAD4 | chr18 | 48556993 | + | NRG1 | chr8 | 32585467 | + |
| 5UTR-intron | ENST00000342988 | ENST00000523681 | SMAD4 | chr18 | 48556993 | + | NRG1 | chr8 | 32585467 | + |
| intron-3CDS | ENST00000588745 | ENST00000519301 | SMAD4 | chr18 | 48556993 | + | NRG1 | chr8 | 32585467 | + |
| intron-3CDS | ENST00000588745 | ENST00000520407 | SMAD4 | chr18 | 48556993 | + | NRG1 | chr8 | 32585467 | + |
| intron-3CDS | ENST00000588745 | ENST00000523079 | SMAD4 | chr18 | 48556993 | + | NRG1 | chr8 | 32585467 | + |
| intron-3CDS | ENST00000588745 | ENST00000338921 | SMAD4 | chr18 | 48556993 | + | NRG1 | chr8 | 32585467 | + |
| intron-3CDS | ENST00000588745 | ENST00000356819 | SMAD4 | chr18 | 48556993 | + | NRG1 | chr8 | 32585467 | + |
| intron-3CDS | ENST00000588745 | ENST00000287845 | SMAD4 | chr18 | 48556993 | + | NRG1 | chr8 | 32585467 | + |
| intron-3CDS | ENST00000588745 | ENST00000341377 | SMAD4 | chr18 | 48556993 | + | NRG1 | chr8 | 32585467 | + |
| intron-3CDS | ENST00000588745 | ENST00000287842 | SMAD4 | chr18 | 48556993 | + | NRG1 | chr8 | 32585467 | + |
| intron-3CDS | ENST00000588745 | ENST00000521670 | SMAD4 | chr18 | 48556993 | + | NRG1 | chr8 | 32585467 | + |
| intron-3CDS | ENST00000588745 | ENST00000405005 | SMAD4 | chr18 | 48556993 | + | NRG1 | chr8 | 32585467 | + |
| intron-3CDS | ENST00000588745 | ENST00000520502 | SMAD4 | chr18 | 48556993 | + | NRG1 | chr8 | 32585467 | + |
| intron-3CDS | ENST00000588745 | ENST00000539990 | SMAD4 | chr18 | 48556993 | + | NRG1 | chr8 | 32585467 | + |
| intron-intron | ENST00000588745 | ENST00000523681 | SMAD4 | chr18 | 48556993 | + | NRG1 | chr8 | 32585467 | + |
| intron-3CDS | ENST00000586253 | ENST00000519301 | SMAD4 | chr18 | 48556993 | + | NRG1 | chr8 | 32585467 | + |
| intron-3CDS | ENST00000586253 | ENST00000520407 | SMAD4 | chr18 | 48556993 | + | NRG1 | chr8 | 32585467 | + |
| intron-3CDS | ENST00000586253 | ENST00000523079 | SMAD4 | chr18 | 48556993 | + | NRG1 | chr8 | 32585467 | + |
| intron-3CDS | ENST00000586253 | ENST00000338921 | SMAD4 | chr18 | 48556993 | + | NRG1 | chr8 | 32585467 | + |
| intron-3CDS | ENST00000586253 | ENST00000356819 | SMAD4 | chr18 | 48556993 | + | NRG1 | chr8 | 32585467 | + |
| intron-3CDS | ENST00000586253 | ENST00000287845 | SMAD4 | chr18 | 48556993 | + | NRG1 | chr8 | 32585467 | + |
| intron-3CDS | ENST00000586253 | ENST00000341377 | SMAD4 | chr18 | 48556993 | + | NRG1 | chr8 | 32585467 | + |
| intron-3CDS | ENST00000586253 | ENST00000287842 | SMAD4 | chr18 | 48556993 | + | NRG1 | chr8 | 32585467 | + |
| intron-3CDS | ENST00000586253 | ENST00000521670 | SMAD4 | chr18 | 48556993 | + | NRG1 | chr8 | 32585467 | + |
| intron-3CDS | ENST00000586253 | ENST00000405005 | SMAD4 | chr18 | 48556993 | + | NRG1 | chr8 | 32585467 | + |
| intron-3CDS | ENST00000586253 | ENST00000520502 | SMAD4 | chr18 | 48556993 | + | NRG1 | chr8 | 32585467 | + |
| intron-3CDS | ENST00000586253 | ENST00000539990 | SMAD4 | chr18 | 48556993 | + | NRG1 | chr8 | 32585467 | + |
| intron-intron | ENST00000586253 | ENST00000523681 | SMAD4 | chr18 | 48556993 | + | NRG1 | chr8 | 32585467 | + |
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FusionProtFeatures for SMAD4_NRG1 |
| Main function of each fusion partner protein. (from UniProt) |
| Hgene | Tgene |
| SMAD4 | NRG1 |