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Fusion gene ID: 34752 |
FusionGeneSummary for SMAD4_SKAP1 |
Fusion gene summary |
Fusion gene information | Fusion gene name: SMAD4_SKAP1 | Fusion gene ID: 34752 | Hgene | Tgene | Gene symbol | SMAD4 | SKAP1 | Gene ID | 4089 | 8631 |
Gene name | SMAD family member 4 | src kinase associated phosphoprotein 1 | |
Synonyms | DPC4|JIP|MADH4|MYHRS | HEL-S-81p|SCAP1|SKAP55 | |
Cytomap | 18q21.2 | 17q21.32 | |
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 | src kinase-associated phosphoprotein 1SKAP-55epididymis secretory sperm binding protein Li 81ppp55src family-associated phosphoprotein 1src kinase-associated phosphoprotein of 55 kDa | |
Modification date | 20180527 | 20180523 | |
UniProtAcc | Q13485 | Q86WV1 | |
Ensembl transtripts involved in fusion gene | ENST00000452201, ENST00000398417, ENST00000342988, ENST00000588745, ENST00000586253, | ENST00000336915, ENST00000584924, | |
Fusion gene scores | * DoF score | 5 X 5 X 4=100 | 22 X 8 X 9=1584 |
# samples | 5 | 22 | |
** MAII score | log2(5/100*10)=-1 possibly effective Gene in Pan-Cancer Fusion Genes (peGinPCFGs). DoF>8 and MAII<0 | log2(22/1584*10)=-2.84799690655495 possibly effective Gene in Pan-Cancer Fusion Genes (peGinPCFGs). DoF>8 and MAII<0 | |
Context | PubMed: SMAD4 [Title/Abstract] AND SKAP1 [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 | SKAP1 | GO:0045944 | positive regulation of transcription by RNA polymerase II | 11909961 |
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 | PRAD | TCGA-J4-A67L-01A | SMAD4 | chr18 | 48593557 | + | SKAP1 | chr17 | 46474147 | - |
* 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 | ENST00000336915 | SMAD4 | chr18 | 48593557 | + | SKAP1 | chr17 | 46474147 | - |
intron-3CDS | ENST00000452201 | ENST00000584924 | SMAD4 | chr18 | 48593557 | + | SKAP1 | chr17 | 46474147 | - |
In-frame | ENST00000398417 | ENST00000336915 | SMAD4 | chr18 | 48593557 | + | SKAP1 | chr17 | 46474147 | - |
Frame-shift | ENST00000398417 | ENST00000584924 | SMAD4 | chr18 | 48593557 | + | SKAP1 | chr17 | 46474147 | - |
In-frame | ENST00000342988 | ENST00000336915 | SMAD4 | chr18 | 48593557 | + | SKAP1 | chr17 | 46474147 | - |
Frame-shift | ENST00000342988 | ENST00000584924 | SMAD4 | chr18 | 48593557 | + | SKAP1 | chr17 | 46474147 | - |
In-frame | ENST00000588745 | ENST00000336915 | SMAD4 | chr18 | 48593557 | + | SKAP1 | chr17 | 46474147 | - |
Frame-shift | ENST00000588745 | ENST00000584924 | SMAD4 | chr18 | 48593557 | + | SKAP1 | chr17 | 46474147 | - |
intron-3CDS | ENST00000586253 | ENST00000336915 | SMAD4 | chr18 | 48593557 | + | SKAP1 | chr17 | 46474147 | - |
intron-3CDS | ENST00000586253 | ENST00000584924 | SMAD4 | chr18 | 48593557 | + | SKAP1 | chr17 | 46474147 | - |
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FusionProtFeatures for SMAD4_SKAP1 |
Main function of each fusion partner protein. (from UniProt) |
Hgene | Tgene |
SMAD4 | SKAP1 |
In muscle physiology, plays a central role in thebalance between atrophy and hypertrophy. When recruited by MSTN,promotes atrophy response via phosphorylated SMAD2/4. MSTNdecrease causes SMAD4 release and subsequent recruitment by theBMP pathway to promote hypertrophy via phosphorylated SMAD1/5/8.Acts synergistically with SMAD1 and YY1 in bone morphogeneticprotein (BMP)-mediated cardiac-specific gene expression. Binds toSMAD binding elements (SBEs) (5'-GTCT/AGAC-3') within BMP responseelement (BMPRE) of cardiac activating regions (By similarity).Common SMAD (co-SMAD) is the coactivator and mediator of signaltransduction by TGF-beta (transforming growth factor). Componentof the heterotrimeric SMAD2/SMAD3-SMAD4 complex that forms in thenucleus and is required for the TGF-mediated signaling. Promotesbinding of the SMAD2/SMAD4/FAST-1 complex to DNA and provides anactivation function required for SMAD1 or SMAD2 to stimulatetranscription. Component of the multimeric SMAD3/SMAD4/JUN/FOScomplex which forms at the AP1 promoter site; required forsynergistic transcriptional activity in response to TGF-beta. Mayact as a tumor suppressor. Positively regulates PDPK1 kinaseactivity by stimulating its dissociation from the 14-3-3 proteinYWHAQ which acts as a negative regulator. {ECO:0000250,ECO:0000269|PubMed:17327236, ECO:0000269|PubMed:9389648}. | Positively regulates T-cell receptor signaling byenhancing the MAP kinase pathway. Required for optimal conjugationbetween T-cells and antigen-presenting cells by promoting theclustering of integrin ITGAL on the surface of T-cells. May beinvolved in high affinity immunoglobulin epsilon receptorsignaling in mast cells. {ECO:0000269|PubMed:10856234,ECO:0000269|PubMed:11909961, ECO:0000269|PubMed:12652296,ECO:0000269|PubMed:15939789, ECO:0000269|PubMed:16980616}. |
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 SMAD4_SKAP1 |
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. |
>In-frame_SMAD4_ENST00000398417_chr18_48593557_+_SKAP1_ENST00000336915_chr17_46474147_-_436aa MDNMSITNTPTSNDACLSIVHSLMCHRQGGESETFAKRAIESLVKKLKEKKDELDSLITAITTNGAHPSKCVTIQRTLDGRLQVAGRKGF PHVIYARLWRWPDLHKNELKHVKYCQYAFDLKCDSVCVNPYHYERVVSPGIDLSGLTLQSNAPSSMMVKDEYVHDFEGQPSLSTEGHSIQ TIQHPPSNRASTETYSTPALLAPSESNATSTANFPNIPVASTSQPASILGGSHSEGLLQIASGPQPGQQQNGFTGQPATYHHNSTTTWTG SRTAPYTPNLPHHQNGHLQHHPPMPPHPGHYWPVHNELAFQPPISNHPAPEYWCSIAYFEMDVQVGETFKVPSSCPIVTVDGYVDPSGGD >In-frame_SMAD4_ENST00000342988_chr18_48593557_+_SKAP1_ENST00000336915_chr17_46474147_-_436aa MDNMSITNTPTSNDACLSIVHSLMCHRQGGESETFAKRAIESLVKKLKEKKDELDSLITAITTNGAHPSKCVTIQRTLDGRLQVAGRKGF PHVIYARLWRWPDLHKNELKHVKYCQYAFDLKCDSVCVNPYHYERVVSPGIDLSGLTLQSNAPSSMMVKDEYVHDFEGQPSLSTEGHSIQ TIQHPPSNRASTETYSTPALLAPSESNATSTANFPNIPVASTSQPASILGGSHSEGLLQIASGPQPGQQQNGFTGQPATYHHNSTTTWTG SRTAPYTPNLPHHQNGHLQHHPPMPPHPGHYWPVHNELAFQPPISNHPAPEYWCSIAYFEMDVQVGETFKVPSSCPIVTVDGYVDPSGGD >In-frame_SMAD4_ENST00000588745_chr18_48593557_+_SKAP1_ENST00000336915_chr17_46474147_-_340aa MDNMSITNTPTSNDACLSIVHSLMCHRQGGESETFAKRAIESLVKKLKEKKDELDSLITAITTNGAHPSKCVTIQRTLDGRLQVAGRKGF PHVIYARLWRWPDLHKNELKHVKYCQYAFDLKCDSVCVNPYHYERVVSPGIDLSGLTLQSNAPSSMMVKDEYVHDFEGQPSLSTEGHSIQ TIQHPPSNRASTETYSTPALLAPSESNATSTANFPNIPVASTTPEYWCSIAYFEMDVQVGETFKVPSSCPIVTVDGYVDPSGGDRFCLGQ |
* Fusion transcript sequences (only coding sequence (CDS) region). |
>In-frame_SMAD4_ENST00000398417_chr18_48593557_+_SKAP1_ENST00000336915_chr17_46474147_-_1308nt ATGGACAATATGTCTATTACGAATACACCAACAAGTAATGATGCCTGTCTGAGCATTGTGCATAGTTTGATGTGCCATAGACAAGGTGGA GAGAGTGAAACATTTGCAAAAAGAGCAATTGAAAGTTTGGTAAAGAAGCTGAAGGAGAAAAAAGATGAATTGGATTCTTTAATAACAGCT ATAACTACAAATGGAGCTCATCCTAGTAAATGTGTTACCATACAGAGAACATTGGATGGGAGGCTTCAGGTGGCTGGTCGGAAAGGATTT CCTCATGTGATCTATGCCCGTCTCTGGAGGTGGCCTGATCTTCACAAAAATGAACTAAAACATGTTAAATATTGTCAGTATGCGTTTGAC TTAAAATGTGATAGTGTCTGTGTGAATCCATATCACTACGAACGAGTTGTATCACCTGGAATTGATCTCTCAGGATTAACACTGCAGAGT AATGCTCCATCAAGTATGATGGTGAAGGATGAATATGTGCATGACTTTGAGGGACAGCCATCGTTGTCCACTGAAGGACATTCAATTCAA ACCATCCAGCATCCACCAAGTAATCGTGCATCGACAGAGACATACAGCACCCCAGCTCTGTTAGCCCCATCTGAGTCTAATGCTACCAGC ACTGCCAACTTTCCCAACATTCCTGTGGCTTCCACAAGTCAGCCTGCCAGTATACTGGGGGGCAGCCATAGTGAAGGACTGTTGCAGATA GCATCAGGGCCTCAGCCAGGACAGCAGCAGAATGGATTTACTGGTCAGCCAGCTACTTACCATCATAACAGCACTACCACCTGGACTGGA AGTAGGACTGCACCATACACACCTAATTTGCCTCACCACCAAAACGGCCATCTTCAGCACCACCCGCCTATGCCGCCCCATCCCGGACAT TACTGGCCTGTTCACAATGAGCTTGCATTCCAGCCTCCCATTTCCAATCATCCTGCTCCTGAGTATTGGTGTTCCATTGCTTACTTTGAA ATGGATGTTCAGGTAGGAGAGACATTTAAGGTTCCTTCAAGCTGCCCTATTGTTACTGTTGATGGATACGTGGACCCTTCTGGAGGAGAT CGCTTTTGTTTGGGTCAACTCTCCAATGTCCACAGGACAGAAGCCATTGAGAGAGCAAGGTTGCACATAGGCAAAGGTGTGCAGTTGGAA TGTAAAGGTGAAGGTGATGTTTGGGTCAGGTGCCTTAGTGACCACGCGGTCTTTGTACAGAGTTACTACTTAGACAGAGAAGCTGGGCGT >In-frame_SMAD4_ENST00000342988_chr18_48593557_+_SKAP1_ENST00000336915_chr17_46474147_-_1308nt ATGGACAATATGTCTATTACGAATACACCAACAAGTAATGATGCCTGTCTGAGCATTGTGCATAGTTTGATGTGCCATAGACAAGGTGGA GAGAGTGAAACATTTGCAAAAAGAGCAATTGAAAGTTTGGTAAAGAAGCTGAAGGAGAAAAAAGATGAATTGGATTCTTTAATAACAGCT ATAACTACAAATGGAGCTCATCCTAGTAAATGTGTTACCATACAGAGAACATTGGATGGGAGGCTTCAGGTGGCTGGTCGGAAAGGATTT CCTCATGTGATCTATGCCCGTCTCTGGAGGTGGCCTGATCTTCACAAAAATGAACTAAAACATGTTAAATATTGTCAGTATGCGTTTGAC TTAAAATGTGATAGTGTCTGTGTGAATCCATATCACTACGAACGAGTTGTATCACCTGGAATTGATCTCTCAGGATTAACACTGCAGAGT AATGCTCCATCAAGTATGATGGTGAAGGATGAATATGTGCATGACTTTGAGGGACAGCCATCGTTGTCCACTGAAGGACATTCAATTCAA ACCATCCAGCATCCACCAAGTAATCGTGCATCGACAGAGACATACAGCACCCCAGCTCTGTTAGCCCCATCTGAGTCTAATGCTACCAGC ACTGCCAACTTTCCCAACATTCCTGTGGCTTCCACAAGTCAGCCTGCCAGTATACTGGGGGGCAGCCATAGTGAAGGACTGTTGCAGATA GCATCAGGGCCTCAGCCAGGACAGCAGCAGAATGGATTTACTGGTCAGCCAGCTACTTACCATCATAACAGCACTACCACCTGGACTGGA AGTAGGACTGCACCATACACACCTAATTTGCCTCACCACCAAAACGGCCATCTTCAGCACCACCCGCCTATGCCGCCCCATCCCGGACAT TACTGGCCTGTTCACAATGAGCTTGCATTCCAGCCTCCCATTTCCAATCATCCTGCTCCTGAGTATTGGTGTTCCATTGCTTACTTTGAA ATGGATGTTCAGGTAGGAGAGACATTTAAGGTTCCTTCAAGCTGCCCTATTGTTACTGTTGATGGATACGTGGACCCTTCTGGAGGAGAT CGCTTTTGTTTGGGTCAACTCTCCAATGTCCACAGGACAGAAGCCATTGAGAGAGCAAGGTTGCACATAGGCAAAGGTGTGCAGTTGGAA TGTAAAGGTGAAGGTGATGTTTGGGTCAGGTGCCTTAGTGACCACGCGGTCTTTGTACAGAGTTACTACTTAGACAGAGAAGCTGGGCGT >In-frame_SMAD4_ENST00000588745_chr18_48593557_+_SKAP1_ENST00000336915_chr17_46474147_-_1020nt ATGGACAATATGTCTATTACGAATACACCAACAAGTAATGATGCCTGTCTGAGCATTGTGCATAGTTTGATGTGCCATAGACAAGGTGGA GAGAGTGAAACATTTGCAAAAAGAGCAATTGAAAGTTTGGTAAAGAAGCTGAAGGAGAAAAAAGATGAATTGGATTCTTTAATAACAGCT ATAACTACAAATGGAGCTCATCCTAGTAAATGTGTTACCATACAGAGAACATTGGATGGGAGGCTTCAGGTGGCTGGTCGGAAAGGATTT CCTCATGTGATCTATGCCCGTCTCTGGAGGTGGCCTGATCTTCACAAAAATGAACTAAAACATGTTAAATATTGTCAGTATGCGTTTGAC TTAAAATGTGATAGTGTCTGTGTGAATCCATATCACTACGAACGAGTTGTATCACCTGGAATTGATCTCTCAGGATTAACACTGCAGAGT AATGCTCCATCAAGTATGATGGTGAAGGATGAATATGTGCATGACTTTGAGGGACAGCCATCGTTGTCCACTGAAGGACATTCAATTCAA ACCATCCAGCATCCACCAAGTAATCGTGCATCGACAGAGACATACAGCACCCCAGCTCTGTTAGCCCCATCTGAGTCTAATGCTACCAGC ACTGCCAACTTTCCCAACATTCCTGTGGCTTCCACAACTCCTGAGTATTGGTGTTCCATTGCTTACTTTGAAATGGATGTTCAGGTAGGA GAGACATTTAAGGTTCCTTCAAGCTGCCCTATTGTTACTGTTGATGGATACGTGGACCCTTCTGGAGGAGATCGCTTTTGTTTGGGTCAA CTCTCCAATGTCCACAGGACAGAAGCCATTGAGAGAGCAAGGTTGCACATAGGCAAAGGTGTGCAGTTGGAATGTAAAGGTGAAGGTGAT GTTTGGGTCAGGTGCCTTAGTGACCACGCGGTCTTTGTACAGAGTTACTACTTAGACAGAGAAGCTGGGCGTGCACCTGGAGATGCTGTT |
* Fusion transcript sequences (Full-length transcript). |
>In-frame_SMAD4_ENST00000398417_chr18_48593557_+_SKAP1_ENST00000336915_chr17_46474147_-_2984nt AACAAAATCCACTCACACTTGCAACGCCTGGCAAGGCTCTTCAATATGTGATTCCTTGACTGTCCTGTGCGTCTCTCGAGTGTAAACACC TCTGGGGCTCGTGATTCGGGGCTGCCAGAAAGAGAAGGAAGGTTATCCTGAATACATGTCTAACAATTTTCCTTGCAACGTTAGCTGTTG TTTTTCACTGTTTCCAAAGGATCAAAATTGCTTCAGAAATTGGAGACATATTTGATTTAAAAGGAAAAACTTGAACAAATGGACAATATG TCTATTACGAATACACCAACAAGTAATGATGCCTGTCTGAGCATTGTGCATAGTTTGATGTGCCATAGACAAGGTGGAGAGAGTGAAACA TTTGCAAAAAGAGCAATTGAAAGTTTGGTAAAGAAGCTGAAGGAGAAAAAAGATGAATTGGATTCTTTAATAACAGCTATAACTACAAAT GGAGCTCATCCTAGTAAATGTGTTACCATACAGAGAACATTGGATGGGAGGCTTCAGGTGGCTGGTCGGAAAGGATTTCCTCATGTGATC TATGCCCGTCTCTGGAGGTGGCCTGATCTTCACAAAAATGAACTAAAACATGTTAAATATTGTCAGTATGCGTTTGACTTAAAATGTGAT AGTGTCTGTGTGAATCCATATCACTACGAACGAGTTGTATCACCTGGAATTGATCTCTCAGGATTAACACTGCAGAGTAATGCTCCATCA AGTATGATGGTGAAGGATGAATATGTGCATGACTTTGAGGGACAGCCATCGTTGTCCACTGAAGGACATTCAATTCAAACCATCCAGCAT CCACCAAGTAATCGTGCATCGACAGAGACATACAGCACCCCAGCTCTGTTAGCCCCATCTGAGTCTAATGCTACCAGCACTGCCAACTTT CCCAACATTCCTGTGGCTTCCACAAGTCAGCCTGCCAGTATACTGGGGGGCAGCCATAGTGAAGGACTGTTGCAGATAGCATCAGGGCCT CAGCCAGGACAGCAGCAGAATGGATTTACTGGTCAGCCAGCTACTTACCATCATAACAGCACTACCACCTGGACTGGAAGTAGGACTGCA CCATACACACCTAATTTGCCTCACCACCAAAACGGCCATCTTCAGCACCACCCGCCTATGCCGCCCCATCCCGGACATTACTGGCCTGTT CACAATGAGCTTGCATTCCAGCCTCCCATTTCCAATCATCCTGCTCCTGAGTATTGGTGTTCCATTGCTTACTTTGAAATGGATGTTCAG GTAGGAGAGACATTTAAGGTTCCTTCAAGCTGCCCTATTGTTACTGTTGATGGATACGTGGACCCTTCTGGAGGAGATCGCTTTTGTTTG GGTCAACTCTCCAATGTCCACAGGACAGAAGCCATTGAGAGAGCAAGGTTGCACATAGGCAAAGGTGTGCAGTTGGAATGTAAAGGTGAA GGTGATGTTTGGGTCAGGTGCCTTAGTGACCACGCGGTCTTTGTACAGAGTTACTACTTAGACAGAGAAGCTGGGCGTGCACCTGGAGAT GCTGTTCATAAGATCTACCCAAGTGCATATATAAAGATGCTGAAGAGTTTCTGGCAGAAGGTTTGCGGAATGAGAACCTCAGCGCTGTTG CAAGGGATCACAGAGACCATATTCTACGGGGCTTTCAGCAAATCAAAGCCAGGTACTATTGGGATTTTCAGCCCCAAGGGGGAGACATTG GACAGGACAGCTCTGATGATAATCACAGCGGGACTCTTGGCCTGTCCCTCACATCCGATGCACCCTTTTTGTCAGATTATCAGGATGAGG GAATGGAAGACATCGTAAAAGGAGCTCAAGAACTTGATAACGTAATCAAGCAAGGATACTTGGAGAAGAAAAGCAAAGATCATAGTTTCT TTGGATCGGAGTGGCAGAAGCGATGGTGTGTTGTCAGCAGAGGTCTCTTCTACTACTATGCTAATGAGAAGAGCAAGCAGCCCAAAGGGA CCTTCCTCATTAAGGGCTACGGTGTACGGATGGCCCCCCACCTGCGAAGAGATTCCAAGAAAGAATCCTGCTTTGAACTGACCTCCCAGG ATAGGCGCAGCTATGAGTTTACAGCTACTAGTCCAGCAGAAGCCAGAGACTGGGTGGATCAAATAAGTTTCTTGTTAAAGGATCTGAGCT CCTTAACCATTCCATATGAAGAGGATGAGGAGGAAGAAGAAAAAGAAGAGACATATGATGATATTGATGGTTTTGACTCCCCAAGTTGTG GTTCCCAGTGCAGACCCACTATCTTGCCTGGGAGTGTGGGGATAAAAGAGCCTACAGAGGAGAAAGAAGAAGAAGATATTTATGAAGTCT TGCCAGATGAAGAGCATGATCTAGAAGAGGATGAGAGTGGCACTCGACGAAAAGGAGTAGACTATGCCAGTTACTACCAGGGCCTATGGG ATTGCCATGGTGACCAGCCAGATGAACTGTCCTTCCAACGGGGTGACCTCATCCGTATTCTGAGCAAGGAGTATAACATGTATGGCTGGT GGGTGGGAGAACTGAACAGCCTCGTTGGGATTGTTCCAAAGGAGTATCTCACCACTGCCTTTGAAGTGGAAGAAAGATGAAACCCAGGAA ATATATTCTTCCCTCTCTCCTGCCTTTATGAGGAAACTGATCATCAAAAGTTCCCACTCCCTACTTCTGCCACCCCACCAACGCCTTGGA CTCCTCTCTTTGCTGAAGAGACCCAAGTCTCTTGACACCTCAGAGTGACTGTAAGCTACCAGTAAGACAAGTGGGAAGAGGCACGTTCAT CAAACCTGTTACTAAACCAGCCTAGTCATAGCTCATCCCCATCTCTAAATGTGTCCACACAACCACATCTGCCTTTTCCACAAGCTTTTC ACAAAGAAGGTGAGAGAGAAGGAAACCTTGGGAGGAGGACATTACTGGTTGTTCTGGCTGGTTTGAAAAGCACAAATAAACTTGGGATGT >In-frame_SMAD4_ENST00000342988_chr18_48593557_+_SKAP1_ENST00000336915_chr17_46474147_-_3264nt ATGCTCAGTGGCTTCTCGACAAGTTGGCAGCAACAACACGGCCCTGGTCGTCGTCGCCGCTGCGGTAACGGAGCGGTTTGGGTGGCGGAG CCTGCGTTCGCGCCTTCCCGCTCTCCTCGGGAGGCCCTTCCTGCTCTCCCCTAGGCTCCGCGGCCGCCCAGGGGGTGGGAGCGGGTGAGG GGAGCCAGGCGCCCAGCGAGAGAGGCCCCCCGCCGCAGGGCGGCCCGGGAGCTCGAGGCGGTCCGGCCCGCGCGGGCAGCGGCGCGGCGC TGAGGAGGGGCGGCCTGGCCGGGACGCCTCGGGGCGGGGGCCGAGGAGCTCTCCGGGCCGCCGGGGAAAGCTACGGGCCCGGTGCGTCCG CGGACCAGCAGCGCGGGAGAGCGGACTCCCCTCGCCACCGCCCGAGCCCAGGTTATCCTGAATACATGTCTAACAATTTTCCTTGCAACG TTAGCTGTTGTTTTTCACTGTTTCCAAAGGATCAAAATTGCTTCAGAAATTGGAGACATATTTGATTTAAAAGGAAAAACTTGAACAAAT GGACAATATGTCTATTACGAATACACCAACAAGTAATGATGCCTGTCTGAGCATTGTGCATAGTTTGATGTGCCATAGACAAGGTGGAGA GAGTGAAACATTTGCAAAAAGAGCAATTGAAAGTTTGGTAAAGAAGCTGAAGGAGAAAAAAGATGAATTGGATTCTTTAATAACAGCTAT AACTACAAATGGAGCTCATCCTAGTAAATGTGTTACCATACAGAGAACATTGGATGGGAGGCTTCAGGTGGCTGGTCGGAAAGGATTTCC TCATGTGATCTATGCCCGTCTCTGGAGGTGGCCTGATCTTCACAAAAATGAACTAAAACATGTTAAATATTGTCAGTATGCGTTTGACTT AAAATGTGATAGTGTCTGTGTGAATCCATATCACTACGAACGAGTTGTATCACCTGGAATTGATCTCTCAGGATTAACACTGCAGAGTAA TGCTCCATCAAGTATGATGGTGAAGGATGAATATGTGCATGACTTTGAGGGACAGCCATCGTTGTCCACTGAAGGACATTCAATTCAAAC CATCCAGCATCCACCAAGTAATCGTGCATCGACAGAGACATACAGCACCCCAGCTCTGTTAGCCCCATCTGAGTCTAATGCTACCAGCAC TGCCAACTTTCCCAACATTCCTGTGGCTTCCACAAGTCAGCCTGCCAGTATACTGGGGGGCAGCCATAGTGAAGGACTGTTGCAGATAGC ATCAGGGCCTCAGCCAGGACAGCAGCAGAATGGATTTACTGGTCAGCCAGCTACTTACCATCATAACAGCACTACCACCTGGACTGGAAG TAGGACTGCACCATACACACCTAATTTGCCTCACCACCAAAACGGCCATCTTCAGCACCACCCGCCTATGCCGCCCCATCCCGGACATTA CTGGCCTGTTCACAATGAGCTTGCATTCCAGCCTCCCATTTCCAATCATCCTGCTCCTGAGTATTGGTGTTCCATTGCTTACTTTGAAAT GGATGTTCAGGTAGGAGAGACATTTAAGGTTCCTTCAAGCTGCCCTATTGTTACTGTTGATGGATACGTGGACCCTTCTGGAGGAGATCG CTTTTGTTTGGGTCAACTCTCCAATGTCCACAGGACAGAAGCCATTGAGAGAGCAAGGTTGCACATAGGCAAAGGTGTGCAGTTGGAATG TAAAGGTGAAGGTGATGTTTGGGTCAGGTGCCTTAGTGACCACGCGGTCTTTGTACAGAGTTACTACTTAGACAGAGAAGCTGGGCGTGC ACCTGGAGATGCTGTTCATAAGATCTACCCAAGTGCATATATAAAGATGCTGAAGAGTTTCTGGCAGAAGGTTTGCGGAATGAGAACCTC AGCGCTGTTGCAAGGGATCACAGAGACCATATTCTACGGGGCTTTCAGCAAATCAAAGCCAGGTACTATTGGGATTTTCAGCCCCAAGGG GGAGACATTGGACAGGACAGCTCTGATGATAATCACAGCGGGACTCTTGGCCTGTCCCTCACATCCGATGCACCCTTTTTGTCAGATTAT CAGGATGAGGGAATGGAAGACATCGTAAAAGGAGCTCAAGAACTTGATAACGTAATCAAGCAAGGATACTTGGAGAAGAAAAGCAAAGAT CATAGTTTCTTTGGATCGGAGTGGCAGAAGCGATGGTGTGTTGTCAGCAGAGGTCTCTTCTACTACTATGCTAATGAGAAGAGCAAGCAG CCCAAAGGGACCTTCCTCATTAAGGGCTACGGTGTACGGATGGCCCCCCACCTGCGAAGAGATTCCAAGAAAGAATCCTGCTTTGAACTG ACCTCCCAGGATAGGCGCAGCTATGAGTTTACAGCTACTAGTCCAGCAGAAGCCAGAGACTGGGTGGATCAAATAAGTTTCTTGTTAAAG GATCTGAGCTCCTTAACCATTCCATATGAAGAGGATGAGGAGGAAGAAGAAAAAGAAGAGACATATGATGATATTGATGGTTTTGACTCC CCAAGTTGTGGTTCCCAGTGCAGACCCACTATCTTGCCTGGGAGTGTGGGGATAAAAGAGCCTACAGAGGAGAAAGAAGAAGAAGATATT TATGAAGTCTTGCCAGATGAAGAGCATGATCTAGAAGAGGATGAGAGTGGCACTCGACGAAAAGGAGTAGACTATGCCAGTTACTACCAG GGCCTATGGGATTGCCATGGTGACCAGCCAGATGAACTGTCCTTCCAACGGGGTGACCTCATCCGTATTCTGAGCAAGGAGTATAACATG TATGGCTGGTGGGTGGGAGAACTGAACAGCCTCGTTGGGATTGTTCCAAAGGAGTATCTCACCACTGCCTTTGAAGTGGAAGAAAGATGA AACCCAGGAAATATATTCTTCCCTCTCTCCTGCCTTTATGAGGAAACTGATCATCAAAAGTTCCCACTCCCTACTTCTGCCACCCCACCA ACGCCTTGGACTCCTCTCTTTGCTGAAGAGACCCAAGTCTCTTGACACCTCAGAGTGACTGTAAGCTACCAGTAAGACAAGTGGGAAGAG GCACGTTCATCAAACCTGTTACTAAACCAGCCTAGTCATAGCTCATCCCCATCTCTAAATGTGTCCACACAACCACATCTGCCTTTTCCA CAAGCTTTTCACAAAGAAGGTGAGAGAGAAGGAAACCTTGGGAGGAGGACATTACTGGTTGTTCTGGCTGGTTTGAAAAGCACAAATAAA >In-frame_SMAD4_ENST00000588745_chr18_48593557_+_SKAP1_ENST00000336915_chr17_46474147_-_2438nt ATGGACAATATGTCTATTACGAATACACCAACAAGTAATGATGCCTGTCTGAGCATTGTGCATAGTTTGATGTGCCATAGACAAGGTGGA GAGAGTGAAACATTTGCAAAAAGAGCAATTGAAAGTTTGGTAAAGAAGCTGAAGGAGAAAAAAGATGAATTGGATTCTTTAATAACAGCT ATAACTACAAATGGAGCTCATCCTAGTAAATGTGTTACCATACAGAGAACATTGGATGGGAGGCTTCAGGTGGCTGGTCGGAAAGGATTT CCTCATGTGATCTATGCCCGTCTCTGGAGGTGGCCTGATCTTCACAAAAATGAACTAAAACATGTTAAATATTGTCAGTATGCGTTTGAC TTAAAATGTGATAGTGTCTGTGTGAATCCATATCACTACGAACGAGTTGTATCACCTGGAATTGATCTCTCAGGATTAACACTGCAGAGT AATGCTCCATCAAGTATGATGGTGAAGGATGAATATGTGCATGACTTTGAGGGACAGCCATCGTTGTCCACTGAAGGACATTCAATTCAA ACCATCCAGCATCCACCAAGTAATCGTGCATCGACAGAGACATACAGCACCCCAGCTCTGTTAGCCCCATCTGAGTCTAATGCTACCAGC ACTGCCAACTTTCCCAACATTCCTGTGGCTTCCACAACTCCTGAGTATTGGTGTTCCATTGCTTACTTTGAAATGGATGTTCAGGTAGGA GAGACATTTAAGGTTCCTTCAAGCTGCCCTATTGTTACTGTTGATGGATACGTGGACCCTTCTGGAGGAGATCGCTTTTGTTTGGGTCAA CTCTCCAATGTCCACAGGACAGAAGCCATTGAGAGAGCAAGGTTGCACATAGGCAAAGGTGTGCAGTTGGAATGTAAAGGTGAAGGTGAT GTTTGGGTCAGGTGCCTTAGTGACCACGCGGTCTTTGTACAGAGTTACTACTTAGACAGAGAAGCTGGGCGTGCACCTGGAGATGCTGTT CATAAGATCTACCCAAGTGCATATATAAAGATGCTGAAGAGTTTCTGGCAGAAGGTTTGCGGAATGAGAACCTCAGCGCTGTTGCAAGGG ATCACAGAGACCATATTCTACGGGGCTTTCAGCAAATCAAAGCCAGGTACTATTGGGATTTTCAGCCCCAAGGGGGAGACATTGGACAGG ACAGCTCTGATGATAATCACAGCGGGACTCTTGGCCTGTCCCTCACATCCGATGCACCCTTTTTGTCAGATTATCAGGATGAGGGAATGG AAGACATCGTAAAAGGAGCTCAAGAACTTGATAACGTAATCAAGCAAGGATACTTGGAGAAGAAAAGCAAAGATCATAGTTTCTTTGGAT CGGAGTGGCAGAAGCGATGGTGTGTTGTCAGCAGAGGTCTCTTCTACTACTATGCTAATGAGAAGAGCAAGCAGCCCAAAGGGACCTTCC TCATTAAGGGCTACGGTGTACGGATGGCCCCCCACCTGCGAAGAGATTCCAAGAAAGAATCCTGCTTTGAACTGACCTCCCAGGATAGGC GCAGCTATGAGTTTACAGCTACTAGTCCAGCAGAAGCCAGAGACTGGGTGGATCAAATAAGTTTCTTGTTAAAGGATCTGAGCTCCTTAA CCATTCCATATGAAGAGGATGAGGAGGAAGAAGAAAAAGAAGAGACATATGATGATATTGATGGTTTTGACTCCCCAAGTTGTGGTTCCC AGTGCAGACCCACTATCTTGCCTGGGAGTGTGGGGATAAAAGAGCCTACAGAGGAGAAAGAAGAAGAAGATATTTATGAAGTCTTGCCAG ATGAAGAGCATGATCTAGAAGAGGATGAGAGTGGCACTCGACGAAAAGGAGTAGACTATGCCAGTTACTACCAGGGCCTATGGGATTGCC ATGGTGACCAGCCAGATGAACTGTCCTTCCAACGGGGTGACCTCATCCGTATTCTGAGCAAGGAGTATAACATGTATGGCTGGTGGGTGG GAGAACTGAACAGCCTCGTTGGGATTGTTCCAAAGGAGTATCTCACCACTGCCTTTGAAGTGGAAGAAAGATGAAACCCAGGAAATATAT TCTTCCCTCTCTCCTGCCTTTATGAGGAAACTGATCATCAAAAGTTCCCACTCCCTACTTCTGCCACCCCACCAACGCCTTGGACTCCTC TCTTTGCTGAAGAGACCCAAGTCTCTTGACACCTCAGAGTGACTGTAAGCTACCAGTAAGACAAGTGGGAAGAGGCACGTTCATCAAACC TGTTACTAAACCAGCCTAGTCATAGCTCATCCCCATCTCTAAATGTGTCCACACAACCACATCTGCCTTTTCCACAAGCTTTTCACAAAG AAGGTGAGAGAGAAGGAAACCTTGGGAGGAGGACATTACTGGTTGTTCTGGCTGGTTTGAAAAGCACAAATAAACTTGGGATGTGGTTCC |
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FusionGenePPI for SMAD4_SKAP1 |
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 |
SMAD4 | ATF2, CITED1, DCP1A, SMAD9, EWSR1, UBE2I, FOXO3, FOXO1, FOXO4, SMAD3, BTRC, PIAS3, DLX1, EID2, SKI, SMAD1, PIAS4, SMAD2, DVL1, ERBB2IP, MDM4, SNIP1, EP300, STK11IP, ZNF423, TOB1, KPNB1, RBL1, CTNNB1, SKIL, TFE3, MAX, AKT1, CAMK2G, FOXH1, AR, HOXC8, JUNB, SMAD5, SNW1, SMAD7, COPS5, CEBPA, CEBPB, CEBPD, TGFBRAP1, TGFBR1, LEF1, HOXA9, SMAD6, SKP2, SMURF1, GATA2, NKX3-2, YY1, MECOM, SUMO1, DAXX, SP1, HDAC1, KDM6B, TRIM33, NKX2-5, STUB1, USP9X, HNF4A, NUP214, USP15, DACH1, ISG15, WWP1, RNF11, HGS, PAX6, EIF4A3, NCBP1, ALYREF, DDX39B, THOC2, THOC5, ZMIZ1, PIAS2, HERC5, SMAD4, NOTCH4, PSMD11, MAPK13, PRPF40A, PIAS1, CSH1, CSH2, SNRNP70, RALA, PSG2, CD59, MYOD1, RFX1, FBLN1, DNAJB2, RPL28, TCTA, EEF1A1, HDLBP, PSG9, TDG, GPNMB, ZBED5, ATF7IP, NELFCD, DCP1B, CNKSR1, RMND5B, UHRF2, TM9SF2, USB1, PAPPA2, XPO5, HMG20A, TENM3, ZMYM2, SPTBN1, ZNF521, KLF5, IRF7, IRF3, NCOR1, FHL1, FHL2, FHL3, CSNK1D, TGFB1I1, PLG, SERPINA1, FN1, RELA, SOX12, NR0B2, CYFIP2, NLK, OTUB1, CRYAB, SMURF2, LMO4, RASSF5, GLI1, LHX4, SHMT1, ALDOC, ILKAP, NFIA, PARD3, BCAS3, BEX1, DKK3, FAM84B, GREB1, IL24, LYPD3, S100A14, SERPINB5, THRSP, XPO1, CDKN1A, JUN, NFIX, NFKB1, CHAF1B, ZBTB7A, CREBBP, DNMT3L, NANOG, WEE1, MTOR, CDK9, AHR, TIAF1, TRIM25, USP4 | SKAP1 | PTPRC, FYB, SRC, LYN, FYN, LCK, SKAP1, GRB2, APP, BLCAP, SH2D4A, PRAM1, FAM102A, AP3M1, MYO9B, MYO9A, POLR1B, LOC81691, EML3, WRN, ASPM, JPH1, POLR1A, POLR3A, RECQL4, HPS3, ZNF324, FAM208A, UXT, NCAPD3, MYCBP2, CUL2, PIP5K1A, NEK1, PLEKHH3, PHLDB3, PIK3C3, SEC63, SKAP2, GTF3C1, URI1, PIK3R2, PIK3R3, POLRMT, PLD2, UCKL1, PRR14L, KSR1, ZNHIT6, PDRG1, SETX, NEFL, ALMS1, APPBP2, DDX11L8, UTP15, SENP5, NCAPH2, PAX3, TBL2, ZNHIT2, ZNF644, SUGCT, PKN3, TTF2, PPHLN1, NPHP4, MTMR1, PKN2, C21orf2, POLA1, POLR3B, POLR2L, CCP110, SETD5, ELP3, DOCK7, USP54, POLR1E, TRMT44, POLR1D, EXPH5, NEK4, ATXN2, SBF1, GTPBP6, TRMT1, CD3EAP, PER1, SUPT6H, MCM8, RTEL1, TIGD5, PUSL1, KLHDC3, DYNLL2, MAP7D1 |
- 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 SMAD4_SKAP1 |
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 SMAD4_SKAP1 |
Diseases associated with fusion partners. (DisGeNet 4.0) |
Partner | Gene | Disease ID | Disease name | # pubmeds | Source |
Hgene | SMAD4 | C0345893 | Juvenile polyposis syndrome | 3 | CTD_human;ORPHANET;UNIPROT |
Hgene | SMAD4 | C0009404 | Colorectal Neoplasms | 2 | CTD_human |
Hgene | SMAD4 | C0279628 | Adenocarcinoma Of Esophagus | 2 | CTD_human |
Hgene | SMAD4 | C0796081 | Growth mental deficiency syndrome of Myhre | 2 | CTD_human;ORPHANET;UNIPROT |
Hgene | SMAD4 | C1832942 | JUVENILE POLYPOSIS/HEREDITARY HEMORRHAGIC TELANGIECTASIA SYNDROME (disorder) | 2 | CTD_human;UNIPROT |
Hgene | SMAD4 | C0009241 | Cognition Disorders | 1 | CTD_human |
Hgene | SMAD4 | C0011053 | Deafness | 1 | CTD_human;HPO |
Hgene | SMAD4 | C0023893 | Liver Cirrhosis, Experimental | 1 | CTD_human |
Hgene | SMAD4 | C0023897 | Liver Diseases, Parasitic | 1 | CTD_human |
Hgene | SMAD4 | C0026848 | Myopathy | 1 | CTD_human |
Hgene | SMAD4 | C0038356 | Stomach Neoplasms | 1 | CTD_human |
Hgene | SMAD4 | C0206698 | Cholangiocarcinoma | 1 | CTD_human |
Hgene | SMAD4 | C0221357 | Brachydactyly | 1 | CTD_human;HPO |
Hgene | SMAD4 | C0376634 | Craniofacial Abnormalities | 1 | CTD_human |
Hgene | SMAD4 | C1134719 | Invasive Ductal Breast Carcinoma | 1 | CTD_human |
Tgene | SKAP1 | C0919267 | ovarian neoplasm | 1 | CTD_human |