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Fusion Protein:SMAD3-IQCH |
Fusion Protein Summary |
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Fusion partner gene information | Fusion gene name: SMAD3-IQCH | FusionPDB ID: 83797 | FusionGDB2.0 ID: 83797 | Hgene | Tgene | Gene symbol | SMAD3 | IQCH | Gene ID | 4088 | 128153 |
Gene name | SMAD family member 3 | spermatogenesis associated 17 | |
Synonyms | HSPC193|HsT17436|JV15-2|LDS1C|LDS3|MADH3 | CFAP305|FAP305|IQCH|MOT17|MSRG-11|MSRG11 | |
Cytomap | 15q22.33 | 1q41 | |
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 | spermatogenesis-associated protein 17IQ motif containing Hspermatogenesis-related protein 11 | |
Modification date | 20200329 | 20200313 | |
UniProtAcc | . | Q86VS3 | |
Ensembl transtripts involved in fusion gene | ENST ids | ENST00000327367, ENST00000439724, ENST00000537194, ENST00000540846, ENST00000559092, | ENST00000335894, ENST00000358767, ENST00000360277, ENST00000546225, ENST00000512104, ENST00000560790, |
Fusion gene scores for assessment (based on all fusion genes of FusionGDB 2.0) | * DoF score | 17 X 13 X 12=2652 | 8 X 11 X 6=528 |
# samples | 30 | 12 | |
** MAII score | log2(30/2652*10)=-3.14404636961671 possibly effective Gene in Pan-Cancer Fusion Genes (peGinPCFGs). DoF>8 and MAII<0 | log2(12/528*10)=-2.13750352374993 possibly effective Gene in Pan-Cancer Fusion Genes (peGinPCFGs). DoF>8 and MAII<0 | |
Context (manual curation of fusion genes in FusionPDB) | PubMed: SMAD3 [Title/Abstract] AND IQCH [Title/Abstract] AND fusion [Title/Abstract] | ||
Most frequent breakpoint (based on all fusion genes of FusionGDB 2.0) | SMAD3(67358698)-IQCH(67636401), # samples:1 SMAD3(67462942)-IQCH(67649683), # samples:1 SMAD3(67358698)-IQCH(67664449), # samples:1 | ||
Anticipated loss of major functional domain due to fusion event. | SMAD3-IQCH seems lost the major protein functional domain in Hgene partner, which is a CGC by not retaining the major functional domain in the partially deleted in-frame ORF. SMAD3-IQCH seems lost the major protein functional domain in Hgene partner, which is a CGC by not retaining the major functional domain in the partially deleted in-frame ORF. SMAD3-IQCH seems lost the major protein functional domain in Hgene partner, which is a essential gene by not retaining the major functional domain in the partially deleted in-frame ORF. SMAD3-IQCH seems lost the major protein functional domain in Hgene partner, which is a essential gene by not retaining the major functional domain in the partially deleted in-frame ORF. SMAD3-IQCH seems lost the major protein functional domain in Hgene partner, which is a CGC due to the frame-shifted ORF. SMAD3-IQCH seems lost the major protein functional domain in Hgene partner, which is a transcription factor due to the frame-shifted ORF. SMAD3-IQCH seems lost the major protein functional domain in Tgene partner, which is a essential gene due to the frame-shifted ORF. |
* DoF score (Degree of Frequency) = # partners X # break points X # cancer types ** MAII score (Major Active Isofusion Index) = log2(# samples/DoF score*10) |
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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: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 |
![]() * Click on the image to open the UCSC genome browser with custom track showing this image in a new window. |
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![]() * Click on the image to open the UCSC genome browser with custom track showing this image in a new window. |
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Fusion Gene Sample Information |
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![]() * 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 | BRCA | TCGA-E9-A1RH-01A | SMAD3 | chr15 | 67358698 | + | IQCH | chr15 | 67636401 | + |
ChimerDB4 | COAD | TCGA-AA-3489-01A | SMAD3 | chr15 | 67462942 | + | IQCH | chr15 | 67649683 | + |
ChimerDB4 | STAD | TCGA-VQ-AA6D-01A | SMAD3 | chr15 | 67358698 | + | IQCH | chr15 | 67664449 | + |
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Fusion ORF Analysis |
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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) |
ENST00000327367 | SMAD3 | chr15 | 67462942 | + | ENST00000358767 | IQCH | chr15 | 67649683 | + | 4137 | 968 | 310 | 2940 | 876 |
ENST00000540846 | SMAD3 | chr15 | 67462942 | + | ENST00000358767 | IQCH | chr15 | 67649683 | + | 3890 | 721 | 273 | 2693 | 806 |
ENST00000439724 | SMAD3 | chr15 | 67462942 | + | ENST00000358767 | IQCH | chr15 | 67649683 | + | 3721 | 552 | 26 | 2524 | 832 |
ENST00000537194 | SMAD3 | chr15 | 67462942 | + | ENST00000358767 | IQCH | chr15 | 67649683 | + | 3470 | 301 | 195 | 2273 | 692 |
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Henst | Tenst | Hgene | Hchr | Hbp | Hstrand | Tgene | Tchr | Tbp | Tstrand | No-coding score | Coding score |
ENST00000327367 | ENST00000358767 | SMAD3 | chr15 | 67462942 | + | IQCH | chr15 | 67649683 | + | 0.000915179 | 0.99908483 |
ENST00000540846 | ENST00000358767 | SMAD3 | chr15 | 67462942 | + | IQCH | chr15 | 67649683 | + | 0.00048836 | 0.9995116 |
ENST00000439724 | ENST00000358767 | SMAD3 | chr15 | 67462942 | + | IQCH | chr15 | 67649683 | + | 0.000766676 | 0.99923337 |
ENST00000537194 | ENST00000358767 | SMAD3 | chr15 | 67462942 | + | IQCH | chr15 | 67649683 | + | 0.00116281 | 0.9988372 |
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Fusion Amino Acid Sequences |
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>FusionGDB ID_FusionGDB isoform ID_FGname_Hgene_Hchr_Hbp_Henst_Tgene_Tchr_Tbp_Tenst_length(fusion AA) seq_BP >83797_83797_1_SMAD3-IQCH_SMAD3_chr15_67462942_ENST00000327367_IQCH_chr15_67649683_ENST00000358767_length(amino acids)=876AA_BP=0 MSSILPFTPPIVKRLLGWKKGEQNGQEEKWCEKAVKSLVKKLKKTGQLDELEKAITTQNVNTKCITIPRSLDGRLQVSHRKGLPHVIYCR LWRWPDLHSHHELRAMELCEFAFNMKKDEVCVNPYHYQRVETPVLPPVLVPRHTEIPAEFPPLDDYSHSIPENTNFPAGIEPQSNIPETP PPGYLSEDGETSDHQMNHSMDAGSPNLSPNPMSPAHNNLATFTIPREPPPSPAEVKFFPKKQRSKGKSRRSRGHHDRKAMKVKTPLRALK SLWDYDFLIYDGVIDNTAPDFLAFKEHFSLAWGGIFSLLEHVEKFLRNYAIPEVKIKGNNLVALLPEFELTNKLTRYDLLSVLEDPAHVQ MLINLPGQRYKGQDGNSEAAMKIQATWKCYKARKFFLFYRQQKWASGVIAIAWLLYCHKTRLKKILKESRQRHLENFRIRAKHLAANWNR IRTSRRTIIHIPSLGYSQPVREHIADFNTQQNMQLGRLCDILDANVNVIYICSHHMNDELVLYYKKILSLHAAVKSGNLEDRSDLQDRFK IITPEAVNIFPMIEQLSQLITDHLQIQRWLFKMDSEFRGNGTAFCDIPSYLKCYKWVLKESSRYGLEDWRKKWAQEPALVKISEELAGIL AQHAQPVNEKRFPTWRKFLQTFLSQGGVIEAFPPADNVTNLTVDMLIEPNGKISVLSTGDQLHAESPFISSGTTVPQTSVDPQVLTYLCL QIGKACRMRDVVGYFSIDLVTFIDPSTLEQQVWATGLNLAYSDQLALTQLTLYLTNGHLDCSLSTLEVPRFVPKERKKTKCMSALSMPML -------------------------------------------------------------- >83797_83797_2_SMAD3-IQCH_SMAD3_chr15_67462942_ENST00000439724_IQCH_chr15_67649683_ENST00000358767_length(amino acids)=832AA_BP=0 MSCLHPRQTWKGAALVHRKAWWMGRSLDGRLQVSHRKGLPHVIYCRLWRWPDLHSHHELRAMELCEFAFNMKKDEVCVNPYHYQRVETPV LPPVLVPRHTEIPAEFPPLDDYSHSIPENTNFPAGIEPQSNIPETPPPGYLSEDGETSDHQMNHSMDAGSPNLSPNPMSPAHNNLATFTI PREPPPSPAEVKFFPKKQRSKGKSRRSRGHHDRKAMKVKTPLRALKSLWDYDFLIYDGVIDNTAPDFLAFKEHFSLAWGGIFSLLEHVEK FLRNYAIPEVKIKGNNLVALLPEFELTNKLTRYDLLSVLEDPAHVQMLINLPGQRYKGQDGNSEAAMKIQATWKCYKARKFFLFYRQQKW ASGVIAIAWLLYCHKTRLKKILKESRQRHLENFRIRAKHLAANWNRIRTSRRTIIHIPSLGYSQPVREHIADFNTQQNMQLGRLCDILDA NVNVIYICSHHMNDELVLYYKKILSLHAAVKSGNLEDRSDLQDRFKIITPEAVNIFPMIEQLSQLITDHLQIQRWLFKMDSEFRGNGTAF CDIPSYLKCYKWVLKESSRYGLEDWRKKWAQEPALVKISEELAGILAQHAQPVNEKRFPTWRKFLQTFLSQGGVIEAFPPADNVTNLTVD MLIEPNGKISVLSTGDQLHAESPFISSGTTVPQTSVDPQVLTYLCLQIGKACRMRDVVGYFSIDLVTFIDPSTLEQQVWATGLNLAYSDQ LALTQLTLYLTNGHLDCSLSTLEVPRFVPKERKKTKCMSALSMPMLATSRYAVMTTQLRHSNLSLVFHYVFLQICRAHGIGYDVENNRRG -------------------------------------------------------------- >83797_83797_3_SMAD3-IQCH_SMAD3_chr15_67462942_ENST00000537194_IQCH_chr15_67649683_ENST00000358767_length(amino acids)=692AA_BP=1 MSEDGETSDHQMNHSMDAGSPNLSPNPMSPAHNNLATFTIPREPPPSPAEVKFFPKKQRSKGKSRRSRGHHDRKAMKVKTPLRALKSLWD YDFLIYDGVIDNTAPDFLAFKEHFSLAWGGIFSLLEHVEKFLRNYAIPEVKIKGNNLVALLPEFELTNKLTRYDLLSVLEDPAHVQMLIN LPGQRYKGQDGNSEAAMKIQATWKCYKARKFFLFYRQQKWASGVIAIAWLLYCHKTRLKKILKESRQRHLENFRIRAKHLAANWNRIRTS RRTIIHIPSLGYSQPVREHIADFNTQQNMQLGRLCDILDANVNVIYICSHHMNDELVLYYKKILSLHAAVKSGNLEDRSDLQDRFKIITP EAVNIFPMIEQLSQLITDHLQIQRWLFKMDSEFRGNGTAFCDIPSYLKCYKWVLKESSRYGLEDWRKKWAQEPALVKISEELAGILAQHA QPVNEKRFPTWRKFLQTFLSQGGVIEAFPPADNVTNLTVDMLIEPNGKISVLSTGDQLHAESPFISSGTTVPQTSVDPQVLTYLCLQIGK ACRMRDVVGYFSIDLVTFIDPSTLEQQVWATGLNLAYSDQLALTQLTLYLTNGHLDCSLSTLEVPRFVPKERKKTKCMSALSMPMLATSR -------------------------------------------------------------- >83797_83797_4_SMAD3-IQCH_SMAD3_chr15_67462942_ENST00000540846_IQCH_chr15_67649683_ENST00000358767_length(amino acids)=806AA_BP=1 MDGRLQVSHRKGLPHVIYCRLWRWPDLHSHHELRAMELCEFAFNMKKDEVCVNPYHYQRVETPVLPPVLVPRHTEIPAEFPPLDDYSHSI PENTNFPAGIEPQSNIPETPPPGYLSEDGETSDHQMNHSMDAGSPNLSPNPMSPAHNNLATFTIPREPPPSPAEVKFFPKKQRSKGKSRR SRGHHDRKAMKVKTPLRALKSLWDYDFLIYDGVIDNTAPDFLAFKEHFSLAWGGIFSLLEHVEKFLRNYAIPEVKIKGNNLVALLPEFEL TNKLTRYDLLSVLEDPAHVQMLINLPGQRYKGQDGNSEAAMKIQATWKCYKARKFFLFYRQQKWASGVIAIAWLLYCHKTRLKKILKESR QRHLENFRIRAKHLAANWNRIRTSRRTIIHIPSLGYSQPVREHIADFNTQQNMQLGRLCDILDANVNVIYICSHHMNDELVLYYKKILSL HAAVKSGNLEDRSDLQDRFKIITPEAVNIFPMIEQLSQLITDHLQIQRWLFKMDSEFRGNGTAFCDIPSYLKCYKWVLKESSRYGLEDWR KKWAQEPALVKISEELAGILAQHAQPVNEKRFPTWRKFLQTFLSQGGVIEAFPPADNVTNLTVDMLIEPNGKISVLSTGDQLHAESPFIS SGTTVPQTSVDPQVLTYLCLQIGKACRMRDVVGYFSIDLVTFIDPSTLEQQVWATGLNLAYSDQLALTQLTLYLTNGHLDCSLSTLEVPR -------------------------------------------------------------- |
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Fusion Protein Functional Features |
![]() Go to FGviewer search page for the most frequent breakpoint (https://ccsmweb.uth.edu/FGviewer/chr15:67358698/chr15:67636401) - FGviewer provides the online visualization of the retention search of the protein functional features across DNA, RNA, protein, and pathological levels. - How to search 1. Put your fusion gene symbol. 2. Press the tab key until there will be shown the breakpoint information filled. 4. Go down and press 'Search' tab twice. 4. Go down to have the hyperlink of the search result. 5. Click the hyperlink. 6. See the FGviewer result for your fusion gene. |
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Hgene | Tgene |
. | IQCH |
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: May play a regulatory role in spermatogenesis. {ECO:0000269|PubMed:15897968}. |
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- 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 | SMAD3 | chr15:67462942 | chr15:67649683 | ENST00000327367 | + | 5 | 9 | 10_136 | 219.33333333333334 | 426.0 | Domain | MH1 |
Hgene | SMAD3 | chr15:67462942 | chr15:67649683 | ENST00000439724 | + | 5 | 9 | 10_136 | 175.33333333333334 | 382.0 | Domain | MH1 |
Tgene | IQCH | chr15:67462942 | chr15:67649683 | ENST00000335894 | 5 | 21 | 369_398 | 212.33333333333334 | 1028.0 | Domain | IQ | |
Tgene | IQCH | chr15:67462942 | chr15:67649683 | ENST00000360277 | 0 | 12 | 369_398 | 0.0 | 1009.3333333333334 | Domain | IQ | |
Tgene | IQCH | chr15:67462942 | chr15:67649683 | ENST00000512104 | 0 | 6 | 369_398 | 0 | 169.0 | Domain | IQ | |
Tgene | IQCH | chr15:67462942 | chr15:67649683 | ENST00000546225 | 5 | 20 | 369_398 | 0 | 685.0 | Domain | IQ |
- 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 | SMAD3 | chr15:67462942 | chr15:67649683 | ENST00000327367 | + | 5 | 9 | 232_425 | 219.33333333333334 | 426.0 | Domain | MH2 |
Hgene | SMAD3 | chr15:67462942 | chr15:67649683 | ENST00000439724 | + | 5 | 9 | 232_425 | 175.33333333333334 | 382.0 | Domain | MH2 |
Hgene | SMAD3 | chr15:67462942 | chr15:67649683 | ENST00000537194 | + | 3 | 7 | 10_136 | 24.333333333333332 | 231.0 | Domain | MH1 |
Hgene | SMAD3 | chr15:67462942 | chr15:67649683 | ENST00000537194 | + | 3 | 7 | 232_425 | 24.333333333333332 | 231.0 | Domain | MH2 |
Hgene | SMAD3 | chr15:67462942 | chr15:67649683 | ENST00000540846 | + | 5 | 9 | 10_136 | 114.33333333333333 | 321.0 | Domain | MH1 |
Hgene | SMAD3 | chr15:67462942 | chr15:67649683 | ENST00000540846 | + | 5 | 9 | 232_425 | 114.33333333333333 | 321.0 | Domain | MH2 |
Hgene | SMAD3 | chr15:67462942 | chr15:67649683 | ENST00000327367 | + | 5 | 9 | 137_231 | 219.33333333333334 | 426.0 | Region | Note=Linker |
Hgene | SMAD3 | chr15:67462942 | chr15:67649683 | ENST00000439724 | + | 5 | 9 | 137_231 | 175.33333333333334 | 382.0 | Region | Note=Linker |
Hgene | SMAD3 | chr15:67462942 | chr15:67649683 | ENST00000537194 | + | 3 | 7 | 137_231 | 24.333333333333332 | 231.0 | Region | Note=Linker |
Hgene | SMAD3 | chr15:67462942 | chr15:67649683 | ENST00000540846 | + | 5 | 9 | 137_231 | 114.33333333333333 | 321.0 | Region | Note=Linker |
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Fusion Protein-Protein Interaction |
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Gene | PPI interactors |
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Gene | STRING network |
SMAD3 | |
IQCH |
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Partner | Gene | Hbp | Tbp | ENST | Strand | BPexon | TotalExon | Protein feature loci | *BPloci | TotalLen | Still interaction with |
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Partner | Gene | Hbp | Tbp | ENST | Strand | BPexon | TotalExon | Protein feature loci | *BPloci | TotalLen | Interaction lost with |
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Related Drugs to SMAD3-IQCH |
![]() (Manual curation of PubMed, 04-30-2022 + MyCancerGenome) |
Hgene | Tgene | Drug | Source | PMID |
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Related Diseases to SMAD3-IQCH |
![]() (Manual curation of PubMed, 04-30-2022 + MyCancerGenome) |
Hgene | Tgene | Disease | Source | PMID |
![]() (DisGeNet 4.0) |
Partner | Gene | Disease ID | Disease name | # pubmeds | Source |