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 | Fusion Gene Summary |
| Fusion Gene ORF analysis |
| Fusion Genomic Features |
| Fusion Protein Features |
| Fusion Gene Sequence |
| Fusion Gene PPI analysis |
| Related Drugs |
| Related Diseases |
Fusion gene:SMAD4-CPLX4 (FusionGDB2 ID:83224) |
Fusion Gene Summary for SMAD4-CPLX4 |
 Fusion gene summary |
| Fusion gene information | Fusion gene name: SMAD4-CPLX4 | Fusion gene ID: 83224 | Hgene | Tgene | Gene symbol | SMAD4 | CPLX4 | Gene ID | 4089 | 339302 |
| Gene name | SMAD family member 4 | complexin 4 | |
| Synonyms | DPC4|JIP|MADH4|MYHRS | CPX-IV|CPXIV | |
| Cytomap | 18q21.2 | 18q21.32 | |
| 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 | complexin-4CPX IVcomplexin IV | |
| Modification date | 20200329 | 20200313 | |
| UniProtAcc | . | Q7Z7G2 | |
| Ensembl transtripts involved in fusion gene | ENST00000452201, ENST00000398417, ENST00000342988, ENST00000588745, ENST00000586253, | ENST00000587244, ENST00000299721, | |
| Fusion gene scores | * DoF score | 10 X 12 X 5=600 | 2 X 2 X 2=8 |
| # samples | 13 | 2 | |
| ** MAII score | log2(13/600*10)=-2.20645087746743 possibly effective Gene in Pan-Cancer Fusion Genes (peGinPCFGs). DoF>8 and MAII<0 | log2(2/8*10)=1.32192809488736 | |
| Context | PubMed: SMAD4 [Title/Abstract] AND CPLX4 [Title/Abstract] AND fusion [Title/Abstract] | ||
| Most frequent breakpoint | SMAD4(48586286)-CPLX4(56943966), # samples:1 | ||
| Anticipated loss of major functional domain due to fusion event. | |||
| * 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 |
| Fusion gene breakpoints across SMAD4 (5'-gene) * Click on the image to open the UCSC genome browser with custom track showing this image in a new window. |
| Fusion gene breakpoints across CPLX4 (3'-gene) * Click on the image to open the UCSC genome browser with custom track showing this image in a new window. |
| Fusion gene information from two resources (ChiTars 5.0 and ChimerDB 4.0) * 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. |
| Source | Disease | Sample | Hgene | Hchr | Hbp | Hstrand | Tgene | Tchr | Tbp | Tstrand |
| ChimerDB4 | GBM | TCGA-06-5859-01A | SMAD4 | chr18 | 48586286 | + | CPLX4 | chr18 | 56943966 | - |
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Fusion Gene ORF analysis for SMAD4-CPLX4 |
| 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 | ENST00000587244 | SMAD4 | chr18 | 48586286 | + | CPLX4 | chr18 | 56943966 | - |
| intron-intron | ENST00000452201 | ENST00000299721 | SMAD4 | chr18 | 48586286 | + | CPLX4 | chr18 | 56943966 | - |
| In-frame | ENST00000398417 | ENST00000587244 | SMAD4 | chr18 | 48586286 | + | CPLX4 | chr18 | 56943966 | - |
| 5CDS-intron | ENST00000398417 | ENST00000299721 | SMAD4 | chr18 | 48586286 | + | CPLX4 | chr18 | 56943966 | - |
| In-frame | ENST00000342988 | ENST00000587244 | SMAD4 | chr18 | 48586286 | + | CPLX4 | chr18 | 56943966 | - |
| 5CDS-intron | ENST00000342988 | ENST00000299721 | SMAD4 | chr18 | 48586286 | + | CPLX4 | chr18 | 56943966 | - |
| intron-3CDS | ENST00000588745 | ENST00000587244 | SMAD4 | chr18 | 48586286 | + | CPLX4 | chr18 | 56943966 | - |
| intron-intron | ENST00000588745 | ENST00000299721 | SMAD4 | chr18 | 48586286 | + | CPLX4 | chr18 | 56943966 | - |
| intron-3CDS | ENST00000586253 | ENST00000587244 | SMAD4 | chr18 | 48586286 | + | CPLX4 | chr18 | 56943966 | - |
| intron-intron | ENST00000586253 | ENST00000299721 | SMAD4 | chr18 | 48586286 | + | CPLX4 | chr18 | 56943966 | - |
| ORFfinder result based on the fusion transcript sequence of in-frame fusion genes. |
| Henst | Tenst | Hgene | Hchr | Hbp | Hstrand | Tgene | Tchr | Tbp | Tstrand | Seq length (transcript) | BP loci (transcript) | Predicted start (transcript) | Predicted stop (transcript) | Seq length (amino acids) |
| ENST00000398417 | SMAD4 | chr18 | 48586286 | + | ENST00000587244 | CPLX4 | chr18 | 56943966 | - | 2792 | 1213 | 258 | 1247 | 329 |
| ENST00000342988 | SMAD4 | chr18 | 48586286 | + | ENST00000587244 | CPLX4 | chr18 | 56943966 | - | 3072 | 1493 | 538 | 1527 | 329 |
| DeepORF prediction of the coding potential based on the fusion transcript sequence of in-frame fusion genes. DeepORF is a coding potential classifier based on convolutional neural network by comparing the real Ribo-seq data. If the no-coding score < 0.5 and coding score > 0.5, then the in-frame fusion transcript is predicted as being likely translated. |
| Henst | Tenst | Hgene | Hchr | Hbp | Hstrand | Tgene | Tchr | Tbp | Tstrand | No-coding score | Coding score |
| ENST00000398417 | ENST00000587244 | SMAD4 | chr18 | 48586286 | + | CPLX4 | chr18 | 56943966 | - | 0.011661378 | 0.9883386 |
| ENST00000342988 | ENST00000587244 | SMAD4 | chr18 | 48586286 | + | CPLX4 | chr18 | 56943966 | - | 0.019251578 | 0.9807484 |
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Fusion Genomic Features for SMAD4-CPLX4 |
| FusionAI prediction of the potential fusion gene breakpoint based on the pre-mature RNA sequence context (+/- 5kb of individual partner genes, total 20kb length sequence). FusionAI is a fusion gene breakpoint classifier based on convolutional neural network by comparing the fusion positive and negative sequence context of ~ 20K fusion gene data. From here, we can have the relative potentency of the 20K genomic sequence how individual sequnce will be likely used as the gene fusion breakpoints. |
| Hgene | Hchr | Hbp | Hstrand | Tgene | Tchr | Tbp | Tstrand | 1-p | p (fusion gene breakpoint) |
| Distribution of 44 human genomic features loci across 20kb length fusion breakpoint regions. We integrated a total of 44 different types of human genomic feature loci information across five big categories including virus integration sites, repeats, structural variants, chromatin states, and gene expression regulation. More details are in help page. |
| Distribution of 44 human genomic features loci across 20kb length fusion breakpoint regions that are ovelapped with the top 1% feature importance score regions. More details are in help page. |
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Fusion Protein Features for SMAD4-CPLX4 |
| Go to FGviewer for the breakpoints of chr18:48586286-chr18:56943966 - FGviewer provides the online visualization of the retention search of the protein functional features across DNA, RNA, protein, and pathological levels. |
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| Main function of each fusion partner protein. (from UniProt) |
| Hgene | Tgene |
| . | CPLX4 |
| FUNCTION: Might normally function as a transcriptional repressor. EWS-fusion-proteins (EFPS) may play a role in the tumorigenic process. They may disturb gene expression by mimicking, or interfering with the normal function of CTD-POLII within the transcription initiation complex. They may also contribute to an aberrant activation of the fusion protein target genes. | FUNCTION: Complexin that regulates SNARE protein complex-mediated synaptic vesicle fusion (By similarity). Required for the maintenance of synaptic ultrastructure in the adult retina (By similarity). Positively regulates synaptic transmission through synaptic vesicle availability and exocytosis of neurotransmitters at photoreceptor ribbon synapses in the retina (By similarity). Suppresses tonic photoreceptor activity and baseline 'noise' by suppression of Ca(2+) vesicle tonic release and the facilitation of evoked synchronous and asynchronous Ca(2+) vesicle release (By similarity). {ECO:0000250|UniProtKB:Q80WM3}. |
| 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 |
| Hgene | SMAD4 | chr18:48586286 | chr18:56943966 | ENST00000342988 | + | 8 | 12 | 18_142 | 318.3333333333333 | 553.0 | Domain | MH1 |
| Hgene | SMAD4 | chr18:48586286 | chr18:56943966 | ENST00000398417 | + | 8 | 12 | 18_142 | 318.3333333333333 | 553.0 | Domain | MH1 |
| Hgene | SMAD4 | chr18:48586286 | chr18:56943966 | ENST00000342988 | + | 8 | 12 | 275_320 | 318.3333333333333 | 553.0 | Region | Note=SAD |
| Hgene | SMAD4 | chr18:48586286 | chr18:56943966 | ENST00000398417 | + | 8 | 12 | 275_320 | 318.3333333333333 | 553.0 | Region | Note=SAD |
| - 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 |
| Hgene | SMAD4 | chr18:48586286 | chr18:56943966 | ENST00000342988 | + | 8 | 12 | 451_466 | 318.3333333333333 | 553.0 | Compositional bias | Note=Poly-Ala |
| Hgene | SMAD4 | chr18:48586286 | chr18:56943966 | ENST00000398417 | + | 8 | 12 | 451_466 | 318.3333333333333 | 553.0 | Compositional bias | Note=Poly-Ala |
| Hgene | SMAD4 | chr18:48586286 | chr18:56943966 | ENST00000342988 | + | 8 | 12 | 323_552 | 318.3333333333333 | 553.0 | Domain | MH2 |
| Hgene | SMAD4 | chr18:48586286 | chr18:56943966 | ENST00000398417 | + | 8 | 12 | 323_552 | 318.3333333333333 | 553.0 | Domain | MH2 |
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Fusion Gene Sequence for SMAD4-CPLX4 |
| For in-frame fusion transcripts, we provide the fusion transcript sequences and fusion amino acid sequences. To have fusion amino acid sequence, we ran ORFfinder and chose the longest ORF among the all predicted ones. |
| >In-frame_ENST00000398417_ENST00000587244_TCGA-06-5859-01A_SMAD4_chr18_48586286_+_CPLX4_chr18_56943966_length(transcript)=2792nt_BP=1213nt AACAAAATCCACTCACACTTGCAACGCCTGGCAAGGCTCTTCAATATGTGATTCCTTGACTGTCCTGTGCGTCTCTCGAGTGTAAACACC TCTGGGGCTCGTGATTCGGGGCTGCCAGAAAGAGAAGGAAGGTTATCCTGAATACATGTCTAACAATTTTCCTTGCAACGTTAGCTGTTG TTTTTCACTGTTTCCAAAGGATCAAAATTGCTTCAGAAATTGGAGACATATTTGATTTAAAAGGAAAAACTTGAACAAATGGACAATATG TCTATTACGAATACACCAACAAGTAATGATGCCTGTCTGAGCATTGTGCATAGTTTGATGTGCCATAGACAAGGTGGAGAGAGTGAAACA TTTGCAAAAAGAGCAATTGAAAGTTTGGTAAAGAAGCTGAAGGAGAAAAAAGATGAATTGGATTCTTTAATAACAGCTATAACTACAAAT GGAGCTCATCCTAGTAAATGTGTTACCATACAGAGAACATTGGATGGGAGGCTTCAGGTGGCTGGTCGGAAAGGATTTCCTCATGTGATC TATGCCCGTCTCTGGAGGTGGCCTGATCTTCACAAAAATGAACTAAAACATGTTAAATATTGTCAGTATGCGTTTGACTTAAAATGTGAT AGTGTCTGTGTGAATCCATATCACTACGAACGAGTTGTATCACCTGGAATTGATCTCTCAGGATTAACACTGCAGAGTAATGCTCCATCA AGTATGATGGTGAAGGATGAATATGTGCATGACTTTGAGGGACAGCCATCGTTGTCCACTGAAGGACATTCAATTCAAACCATCCAGCAT CCACCAAGTAATCGTGCATCGACAGAGACATACAGCACCCCAGCTCTGTTAGCCCCATCTGAGTCTAATGCTACCAGCACTGCCAACTTT CCCAACATTCCTGTGGCTTCCACAAGTCAGCCTGCCAGTATACTGGGGGGCAGCCATAGTGAAGGACTGTTGCAGATAGCATCAGGGCCT CAGCCAGGACAGCAGCAGAATGGATTTACTGGTCAGCCAGCTACTTACCATCATAACAGCACTACCACCTGGACTGGAAGTAGGACTGCA CCATACACACCTAATTTGCCTCACCACCAAAACGGCCATCTTCAGCACCACCCGCCTATGCCGCCCCATCCCGGACATTACTGGCCTGTT CACAATGAGCTTGCATTCCAGCCTCCCATTTCCAATCATCCTGTGCACAGGGATATGCATGTCTCCCCCGTGTTGTAGGTGAGACTGTTC ATCCAGAATACTTCCAGAAATTGGACCTTCTCCATACAGCCACGATCAAGGAGTCGCTTTATACTACAACTTCCTCACGTTTGGAAATGT GTGTCTCCCAACCATCCGAAGTTTAATGGGGCTTTAGCTGTGTCTAAGGTTGGCCGCAGGTGGGGGATGGAAGGAGGGGTTTTCTTTGAT CCATCTAATGAATTAATGAATTAATCAGAGGTGGGGTTCAGAAGCCAGGCTCCTTACTGTTGCTGAAGCAGGGCTGATTATGAGCTAGCC TAACTGCTGGAAAAATGCAGCTTCATGCTAGAAGAATTAGGGACATGGCCCAGTCCATTCATCTTCCCTAATCGAGTTCTTGGGAAATAC ACACGTAGATTAGCCCCTAACAATGACCCCCGGCTGATTGCTTGGAGTACCCTCCACCGTGCCCACAATGGTACTGACTAGCTCTTTATG TCCTGCACAAAGGAAGCCCCAACTCCCCCTTGTCCTCCTCTGCCCTGTCTCCCCCACCCCCATCACCACCACCCCTGCCCTCGCCAGTGG CTGTTGAAGTCTTTTCTGCTTTTTTCCCCAGACTCTGAAACAAACAGTAAATAAAAGCTAACCTCACCTGGACTTATTAGGAGGAGCTGG GCAGTTCCAGAGGAATTAACTTTGGAAAACAAGGCCATAAACCCCTTAGCAGCGTGTGGGCAGGAGCTTAAGGAAACGCTGCCAATCTTT GTTTAGCGGTGATTATCGAGATCAATTTAATATTGGGGAAGTTTGCATAAAAAGCATTCTCGGTCAGAGGGGGAACAACAAATACCAATT AATTATCCCCACAGCTGCCCTCTGATCACCACCACCTCAGCACGTCAGCCACCTGGTCTATGTCACTGGCAGTCAGACCTTTTCGGGTGC CACCAGGCCATTTGTGGGCCCTGGAAAGGTGGAGGAGGGGCGGAGGAGGAGGCAAAACCTGGTCTGTCAGGGGACTTTCCAGAGGGTTTG TTAATTTGCCCTGGATGCCGGTACCCAAAGCCCACTCTCTATAGGCTCTGACTTTATTTCTTCTGGGAGCTAAACTGCTTCTACCTCCGC CTCTTAGATGCAGAATCCAGTCTCAGGGAAGGATTAAAGACAGACTGCAGGCTAAGATGGGCTTTGATTCTTTTCAAAAAGATCACACAC TACAATAATAATTACAAATGAGCTGCAGGCAGAAAACACTGGACAAGGAGTCAGTGGCCTGAGTTCTAGTCCTGACCCTTCCACTTAATA GCTGTATCACTTTGAGCCTCAGTTTCCTCTTCTGTAAAATGGGGACCAATATGTCTGTCCTGCTCACCTCACAAGGTTGTGAAGATCAGA TGACATGAAGAATGTGAGAAGATTCTGAAACCTACAAAGTGACATGTCGAGAGAATTGCTTGAGCCCAGGAGTTCCAGGCTGCAGTGAGC CACCATCATGCCACTGCACTCCAGCCTGGGCAACAGAGAGGGACCCTGTCTCTAAAATAAACAGACAAATAAATAATAAGTAAATAAAGT >In-frame_ENST00000398417_ENST00000587244_TCGA-06-5859-01A_SMAD4_chr18_48586286_+_CPLX4_chr18_56943966_length(amino acids)=329AA_start in transcript=258_stop in transcript=1247 MDNMSITNTPTSNDACLSIVHSLMCHRQGGESETFAKRAIESLVKKLKEKKDELDSLITAITTNGAHPSKCVTIQRTLDGRLQVAGRKGF PHVIYARLWRWPDLHKNELKHVKYCQYAFDLKCDSVCVNPYHYERVVSPGIDLSGLTLQSNAPSSMMVKDEYVHDFEGQPSLSTEGHSIQ TIQHPPSNRASTETYSTPALLAPSESNATSTANFPNIPVASTSQPASILGGSHSEGLLQIASGPQPGQQQNGFTGQPATYHHNSTTTWTG -------------------------------------------------------------- >In-frame_ENST00000342988_ENST00000587244_TCGA-06-5859-01A_SMAD4_chr18_48586286_+_CPLX4_chr18_56943966_length(transcript)=3072nt_BP=1493nt ATGCTCAGTGGCTTCTCGACAAGTTGGCAGCAACAACACGGCCCTGGTCGTCGTCGCCGCTGCGGTAACGGAGCGGTTTGGGTGGCGGAG CCTGCGTTCGCGCCTTCCCGCTCTCCTCGGGAGGCCCTTCCTGCTCTCCCCTAGGCTCCGCGGCCGCCCAGGGGGTGGGAGCGGGTGAGG GGAGCCAGGCGCCCAGCGAGAGAGGCCCCCCGCCGCAGGGCGGCCCGGGAGCTCGAGGCGGTCCGGCCCGCGCGGGCAGCGGCGCGGCGC TGAGGAGGGGCGGCCTGGCCGGGACGCCTCGGGGCGGGGGCCGAGGAGCTCTCCGGGCCGCCGGGGAAAGCTACGGGCCCGGTGCGTCCG CGGACCAGCAGCGCGGGAGAGCGGACTCCCCTCGCCACCGCCCGAGCCCAGGTTATCCTGAATACATGTCTAACAATTTTCCTTGCAACG TTAGCTGTTGTTTTTCACTGTTTCCAAAGGATCAAAATTGCTTCAGAAATTGGAGACATATTTGATTTAAAAGGAAAAACTTGAACAAAT GGACAATATGTCTATTACGAATACACCAACAAGTAATGATGCCTGTCTGAGCATTGTGCATAGTTTGATGTGCCATAGACAAGGTGGAGA GAGTGAAACATTTGCAAAAAGAGCAATTGAAAGTTTGGTAAAGAAGCTGAAGGAGAAAAAAGATGAATTGGATTCTTTAATAACAGCTAT AACTACAAATGGAGCTCATCCTAGTAAATGTGTTACCATACAGAGAACATTGGATGGGAGGCTTCAGGTGGCTGGTCGGAAAGGATTTCC TCATGTGATCTATGCCCGTCTCTGGAGGTGGCCTGATCTTCACAAAAATGAACTAAAACATGTTAAATATTGTCAGTATGCGTTTGACTT AAAATGTGATAGTGTCTGTGTGAATCCATATCACTACGAACGAGTTGTATCACCTGGAATTGATCTCTCAGGATTAACACTGCAGAGTAA TGCTCCATCAAGTATGATGGTGAAGGATGAATATGTGCATGACTTTGAGGGACAGCCATCGTTGTCCACTGAAGGACATTCAATTCAAAC CATCCAGCATCCACCAAGTAATCGTGCATCGACAGAGACATACAGCACCCCAGCTCTGTTAGCCCCATCTGAGTCTAATGCTACCAGCAC TGCCAACTTTCCCAACATTCCTGTGGCTTCCACAAGTCAGCCTGCCAGTATACTGGGGGGCAGCCATAGTGAAGGACTGTTGCAGATAGC ATCAGGGCCTCAGCCAGGACAGCAGCAGAATGGATTTACTGGTCAGCCAGCTACTTACCATCATAACAGCACTACCACCTGGACTGGAAG TAGGACTGCACCATACACACCTAATTTGCCTCACCACCAAAACGGCCATCTTCAGCACCACCCGCCTATGCCGCCCCATCCCGGACATTA CTGGCCTGTTCACAATGAGCTTGCATTCCAGCCTCCCATTTCCAATCATCCTGTGCACAGGGATATGCATGTCTCCCCCGTGTTGTAGGT GAGACTGTTCATCCAGAATACTTCCAGAAATTGGACCTTCTCCATACAGCCACGATCAAGGAGTCGCTTTATACTACAACTTCCTCACGT TTGGAAATGTGTGTCTCCCAACCATCCGAAGTTTAATGGGGCTTTAGCTGTGTCTAAGGTTGGCCGCAGGTGGGGGATGGAAGGAGGGGT TTTCTTTGATCCATCTAATGAATTAATGAATTAATCAGAGGTGGGGTTCAGAAGCCAGGCTCCTTACTGTTGCTGAAGCAGGGCTGATTA TGAGCTAGCCTAACTGCTGGAAAAATGCAGCTTCATGCTAGAAGAATTAGGGACATGGCCCAGTCCATTCATCTTCCCTAATCGAGTTCT TGGGAAATACACACGTAGATTAGCCCCTAACAATGACCCCCGGCTGATTGCTTGGAGTACCCTCCACCGTGCCCACAATGGTACTGACTA GCTCTTTATGTCCTGCACAAAGGAAGCCCCAACTCCCCCTTGTCCTCCTCTGCCCTGTCTCCCCCACCCCCATCACCACCACCCCTGCCC TCGCCAGTGGCTGTTGAAGTCTTTTCTGCTTTTTTCCCCAGACTCTGAAACAAACAGTAAATAAAAGCTAACCTCACCTGGACTTATTAG GAGGAGCTGGGCAGTTCCAGAGGAATTAACTTTGGAAAACAAGGCCATAAACCCCTTAGCAGCGTGTGGGCAGGAGCTTAAGGAAACGCT GCCAATCTTTGTTTAGCGGTGATTATCGAGATCAATTTAATATTGGGGAAGTTTGCATAAAAAGCATTCTCGGTCAGAGGGGGAACAACA AATACCAATTAATTATCCCCACAGCTGCCCTCTGATCACCACCACCTCAGCACGTCAGCCACCTGGTCTATGTCACTGGCAGTCAGACCT TTTCGGGTGCCACCAGGCCATTTGTGGGCCCTGGAAAGGTGGAGGAGGGGCGGAGGAGGAGGCAAAACCTGGTCTGTCAGGGGACTTTCC AGAGGGTTTGTTAATTTGCCCTGGATGCCGGTACCCAAAGCCCACTCTCTATAGGCTCTGACTTTATTTCTTCTGGGAGCTAAACTGCTT CTACCTCCGCCTCTTAGATGCAGAATCCAGTCTCAGGGAAGGATTAAAGACAGACTGCAGGCTAAGATGGGCTTTGATTCTTTTCAAAAA GATCACACACTACAATAATAATTACAAATGAGCTGCAGGCAGAAAACACTGGACAAGGAGTCAGTGGCCTGAGTTCTAGTCCTGACCCTT CCACTTAATAGCTGTATCACTTTGAGCCTCAGTTTCCTCTTCTGTAAAATGGGGACCAATATGTCTGTCCTGCTCACCTCACAAGGTTGT GAAGATCAGATGACATGAAGAATGTGAGAAGATTCTGAAACCTACAAAGTGACATGTCGAGAGAATTGCTTGAGCCCAGGAGTTCCAGGC TGCAGTGAGCCACCATCATGCCACTGCACTCCAGCCTGGGCAACAGAGAGGGACCCTGTCTCTAAAATAAACAGACAAATAAATAATAAG >In-frame_ENST00000342988_ENST00000587244_TCGA-06-5859-01A_SMAD4_chr18_48586286_+_CPLX4_chr18_56943966_length(amino acids)=329AA_start in transcript=538_stop in transcript=1527 MDNMSITNTPTSNDACLSIVHSLMCHRQGGESETFAKRAIESLVKKLKEKKDELDSLITAITTNGAHPSKCVTIQRTLDGRLQVAGRKGF PHVIYARLWRWPDLHKNELKHVKYCQYAFDLKCDSVCVNPYHYERVVSPGIDLSGLTLQSNAPSSMMVKDEYVHDFEGQPSLSTEGHSIQ TIQHPPSNRASTETYSTPALLAPSESNATSTANFPNIPVASTSQPASILGGSHSEGLLQIASGPQPGQQQNGFTGQPATYHHNSTTTWTG -------------------------------------------------------------- |
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Fusion Gene PPI Analysis for SMAD4-CPLX4 |
| 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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Related Drugs for SMAD4-CPLX4 |
| Drugs targeting genes involved in this fusion gene. (DrugBank Version 5.1.8 2021-05-08) |
| Partner | Gene | UniProtAcc | DrugBank ID | Drug name | Drug activity | Drug type | Drug status |
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Related Diseases for SMAD4-CPLX4 |
| Diseases associated with fusion partners. (DisGeNet 4.0) |
| Partner | Gene | Disease ID | Disease name | # pubmeds | Source |
| Hgene | SMAD4 | C0345893 | Juvenile polyposis syndrome | 12 | CLINGEN;CTD_human;GENOMICS_ENGLAND;ORPHANET;UNIPROT |
| Hgene | SMAD4 | C1832940 | JUVENILE POLYPOSIS OF STOMACH | 8 | CLINGEN;CTD_human;ORPHANET |
| Hgene | SMAD4 | C1868081 | Juvenile Polyposis Coli | 8 | CLINGEN;CTD_human;ORPHANET |
| Hgene | SMAD4 | C0796081 | Myhre syndrome | 7 | CTD_human;GENOMICS_ENGLAND;ORPHANET;UNIPROT |
| Hgene | SMAD4 | C1832942 | JUVENILE POLYPOSIS/HEREDITARY HEMORRHAGIC TELANGIECTASIA SYNDROME (disorder) | 5 | CTD_human;GENOMICS_ENGLAND;UNIPROT |
| Hgene | SMAD4 | C0009402 | Colorectal Carcinoma | 3 | CTD_human;GENOMICS_ENGLAND;UNIPROT |
| Hgene | SMAD4 | C0009404 | Colorectal Neoplasms | 3 | CTD_human |
| Hgene | SMAD4 | C0279628 | Adenocarcinoma Of Esophagus | 2 | CTD_human |
| Hgene | SMAD4 | C0009241 | Cognition Disorders | 1 | CTD_human |
| Hgene | SMAD4 | C0011052 | Prelingual Deafness | 1 | CTD_human |
| Hgene | SMAD4 | C0011053 | Deafness | 1 | CTD_human |
| Hgene | SMAD4 | C0021367 | Mammary Ductal Carcinoma | 1 | CTD_human |
| Hgene | SMAD4 | C0023893 | Liver Cirrhosis, Experimental | 1 | CTD_human |
| Hgene | SMAD4 | C0023897 | Liver Diseases, Parasitic | 1 | CTD_human |
| Hgene | SMAD4 | C0024623 | Malignant neoplasm of stomach | 1 | CTD_human |
| Hgene | SMAD4 | C0026848 | Myopathy | 1 | CTD_human |
| Hgene | SMAD4 | C0038356 | Stomach Neoplasms | 1 | CTD_human |
| Hgene | SMAD4 | C0039445 | Hereditary hemorrhagic telangiectasia | 1 | GENOMICS_ENGLAND |
| Hgene | SMAD4 | C0086395 | Hearing Loss, Extreme | 1 | CTD_human |
| Hgene | SMAD4 | C0152171 | Idiopathic pulmonary hypertension | 1 | GENOMICS_ENGLAND |
| Hgene | SMAD4 | C0206698 | Cholangiocarcinoma | 1 | CTD_human |
| Hgene | SMAD4 | C0221357 | Brachydactyly | 1 | CTD_human |
| Hgene | SMAD4 | C0340543 | Familial primary pulmonary hypertension | 1 | GENOMICS_ENGLAND |
| Hgene | SMAD4 | C0345905 | Intrahepatic Cholangiocarcinoma | 1 | CTD_human |
| Hgene | SMAD4 | C0376634 | Craniofacial Abnormalities | 1 | CTD_human |
| Hgene | SMAD4 | C0581883 | Complete Hearing Loss | 1 | CTD_human |
| Hgene | SMAD4 | C0751068 | Deafness, Acquired | 1 | CTD_human |
| Hgene | SMAD4 | C1134719 | Invasive Ductal Breast Carcinoma | 1 | CTD_human |
| Hgene | SMAD4 | C1150929 | 2-oxo-hept-3-ene-1,7-dioate hydratase activity | 1 | GENOMICS_ENGLAND |
| Hgene | SMAD4 | C1708349 | Hereditary Diffuse Gastric Cancer | 1 | CTD_human |
| Hgene | SMAD4 | C2931038 | Pancreatic carcinoma, familial | 1 | ORPHANET |
| Hgene | SMAD4 | C2973725 | Pulmonary arterial hypertension | 1 | GENOMICS_ENGLAND |
| Hgene | SMAD4 | C3203102 | Idiopathic pulmonary arterial hypertension | 1 | GENOMICS_ENGLAND |
| Hgene | SMAD4 | C3665473 | Bilateral Deafness | 1 | CTD_human |
| Hgene | SMAD4 | C3805278 | Extrahepatic Cholangiocarcinoma | 1 | CTD_human |
| Hgene | SMAD4 | C4082305 | Deaf Mutism | 1 | CTD_human |
| Hgene | SMAD4 | C4707243 | Familial thoracic aortic aneurysm and aortic dissection | 1 | GENOMICS_ENGLAND;ORPHANET |
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