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Center for Computational Systems Medicine
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FusionGeneSummary

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FusionProtFeature

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FusionGeneSequence

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FusionGenePPI

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Fusion gene ID: 34752

FusionGeneSummary for SMAD4_SKAP1

check button Fusion gene summary
Fusion gene informationFusion gene name: SMAD4_SKAP1
Fusion gene ID: 34752
HgeneTgene
Gene symbol

SMAD4

SKAP1

Gene ID

4089

8631

Gene nameSMAD family member 4src kinase associated phosphoprotein 1
SynonymsDPC4|JIP|MADH4|MYHRSHEL-S-81p|SCAP1|SKAP55
Cytomap

18q21.2

17q21.32

Type of geneprotein-codingprotein-coding
Descriptionmothers 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, 4src kinase-associated phosphoprotein 1SKAP-55epididymis secretory sperm binding protein Li 81ppp55src family-associated phosphoprotein 1src kinase-associated phosphoprotein of 55 kDa
Modification date2018052720180523
UniProtAcc

Q13485

Q86WV1

Ensembl transtripts involved in fusion geneENST00000452201, ENST00000398417, 
ENST00000342988, ENST00000588745, 
ENST00000586253, 
ENST00000336915, 
ENST00000584924, 
Fusion gene scores* DoF score5 X 5 X 4=10022 X 8 X 9=1584
# samples 522
** MAII scorelog2(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)

check button Gene ontology of each fusion partner gene with evidence of Inferred from Direct Assay (IDA) from Entrez
PartnerGeneGO IDGO termPubMed ID
HgeneSMAD4

GO:0007179

transforming growth factor beta receptor signaling pathway

9389648|9732876

HgeneSMAD4

GO:0007183

SMAD protein complex assembly

10823886

HgeneSMAD4

GO:0030308

negative regulation of cell growth

8774881

HgeneSMAD4

GO:0030509

BMP signaling pathway

9389648

HgeneSMAD4

GO:0030511

positive regulation of transforming growth factor beta receptor signaling pathway

19328798

HgeneSMAD4

GO:0045892

negative regulation of transcription, DNA-templated

8774881

HgeneSMAD4

GO:0045893

positive regulation of transcription, DNA-templated

8774881|9311995|9389648|9707553|9732876

HgeneSMAD4

GO:0045944

positive regulation of transcription by RNA polymerase II

9389648|18832382

HgeneSMAD4

GO:0060395

SMAD protein signal transduction

9707553|9732876

HgeneSMAD4

GO:0071559

response to transforming growth factor beta

9707553

TgeneSKAP1

GO:0045944

positive regulation of transcription by RNA polymerase II

11909961


check button 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 typeSourceCancer typeSampleHgeneHchrHbpHstrandTgeneTchrTbpTstrand
TCGARVPRADTCGA-J4-A67L-01ASMAD4chr18

48593557

+SKAP1chr17

46474147

-
* LD: Li Ding group's fusion gene list
  RV: Roel Verhaak group's fusion gene list
  ChiTaRs fusion database

check button 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.
ORFHenstTenstHgeneHchrHbpHstrandTgeneTchrTbpTstrand
intron-3CDSENST00000452201ENST00000336915SMAD4chr18

48593557

+SKAP1chr17

46474147

-
intron-3CDSENST00000452201ENST00000584924SMAD4chr18

48593557

+SKAP1chr17

46474147

-
In-frameENST00000398417ENST00000336915SMAD4chr18

48593557

+SKAP1chr17

46474147

-
Frame-shiftENST00000398417ENST00000584924SMAD4chr18

48593557

+SKAP1chr17

46474147

-
In-frameENST00000342988ENST00000336915SMAD4chr18

48593557

+SKAP1chr17

46474147

-
Frame-shiftENST00000342988ENST00000584924SMAD4chr18

48593557

+SKAP1chr17

46474147

-
In-frameENST00000588745ENST00000336915SMAD4chr18

48593557

+SKAP1chr17

46474147

-
Frame-shiftENST00000588745ENST00000584924SMAD4chr18

48593557

+SKAP1chr17

46474147

-
intron-3CDSENST00000586253ENST00000336915SMAD4chr18

48593557

+SKAP1chr17

46474147

-
intron-3CDSENST00000586253ENST00000584924SMAD4chr18

48593557

+SKAP1chr17

46474147

-

Top

FusionProtFeatures for SMAD4_SKAP1


check buttonMain function of each fusion partner protein. (from UniProt)
HgeneTgene
SMAD4

Q13485

SKAP1

Q86WV1

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}.

check buttonRetention 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

download page

.

* 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.
PartnerGeneHbpTbpENSTStrandBPexonTotalExonProtein feature loci*BPlociTotalLenProtein featureProtein feature note

- In-frame and not-retained protein feature among the 13 regional features.
PartnerGeneHbpTbpENSTStrandBPexonTotalExonProtein feature loci*BPlociTotalLenProtein featureProtein feature note


Top

FusionGeneSequence for SMAD4_SKAP1


check button 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


check button Go to ChiPPI (Chimeric Protein-Protein interactions) to see the chimeric PPI interaction in

ChiPPI page

.

check button Protein-protein interactors with each fusion partner protein in wild-type (BIOGRID-3.4.160)
HgeneHgene's interactorsTgeneTgene's interactors
SMAD4ATF2, 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, USP4SKAP1PTPRC, 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


check button - Retained PPIs in in-frame fusion.
PartnerGeneHbpTbpENSTStrandBPexonTotalExonProtein feature loci*BPlociTotalLenStill interaction with


check button - Lost PPIs in in-frame fusion.
PartnerGeneHbpTbpENSTStrandBPexonTotalExonProtein feature loci*BPlociTotalLenInteraction lost with


check button - Retained PPIs, but lost function due to frame-shift fusion.
PartnerGeneHbpTbpENSTStrandBPexonTotalExonProtein feature loci*BPlociTotalLenInteraction lost with


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RelatedDrugs for SMAD4_SKAP1


check button Drugs targeting genes involved in this fusion gene.
(DrugBank Version 5.1.0 2018-04-02)
PartnerGeneUniProtAccDrugBank IDDrug nameDrug activityDrug typeDrug status

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RelatedDiseases for SMAD4_SKAP1


check button Diseases associated with fusion partners.
(DisGeNet 4.0)
PartnerGeneDisease IDDisease name# pubmedsSource
HgeneSMAD4C0345893Juvenile polyposis syndrome3CTD_human;ORPHANET;UNIPROT
HgeneSMAD4C0009404Colorectal Neoplasms2CTD_human
HgeneSMAD4C0279628Adenocarcinoma Of Esophagus2CTD_human
HgeneSMAD4C0796081Growth mental deficiency syndrome of Myhre2CTD_human;ORPHANET;UNIPROT
HgeneSMAD4C1832942JUVENILE POLYPOSIS/HEREDITARY HEMORRHAGIC TELANGIECTASIA SYNDROME (disorder)2CTD_human;UNIPROT
HgeneSMAD4C0009241Cognition Disorders1CTD_human
HgeneSMAD4C0011053Deafness1CTD_human;HPO
HgeneSMAD4C0023893Liver Cirrhosis, Experimental1CTD_human
HgeneSMAD4C0023897Liver Diseases, Parasitic1CTD_human
HgeneSMAD4C0026848Myopathy1CTD_human
HgeneSMAD4C0038356Stomach Neoplasms1CTD_human
HgeneSMAD4C0206698Cholangiocarcinoma1CTD_human
HgeneSMAD4C0221357Brachydactyly1CTD_human;HPO
HgeneSMAD4C0376634Craniofacial Abnormalities1CTD_human
HgeneSMAD4C1134719Invasive Ductal Breast Carcinoma1CTD_human
TgeneSKAP1C0919267ovarian neoplasm1CTD_human