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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:SMC3-ADD3 (FusionGDB2 ID:HG9126TG120) |
Fusion Gene Summary for SMC3-ADD3 |
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Fusion gene information | Fusion gene name: SMC3-ADD3 | Fusion gene ID: hg9126tg120 | Hgene | Tgene | Gene symbol | SMC3 | ADD3 | Gene ID | 9126 | 120 |
Gene name | structural maintenance of chromosomes 3 | adducin 3 | |
Synonyms | BAM|BMH|CDLS3|CSPG6|HCAP|SMC3L1 | ADDL|CPSQ3 | |
Cytomap | ('SMC3')('ADD3') 10q25.2 | 10q25.1-q25.2 | |
Type of gene | protein-coding | protein-coding | |
Description | structural maintenance of chromosomes protein 3SMC protein 3basement membrane-associated chondroitin proteoglycanchondroitin sulfate proteoglycan 6 (bamacan)chromosome-associated polypeptide | gamma-adducinadducin 3 (gamma)adducin-like protein 70 | |
Modification date | 20200327 | 20200313 | |
UniProtAcc | . | Q9UEY8 | |
Ensembl transtripts involved in fusion gene | ENST00000361804, ENST00000462899, | ||
Fusion gene scores | * DoF score | 6 X 7 X 3=126 | 13 X 11 X 6=858 |
# samples | 7 | 13 | |
** MAII score | log2(7/126*10)=-0.84799690655495 possibly effective Gene in Pan-Cancer Fusion Genes (peGinPCFGs). DoF>8 and MAII<0 | log2(13/858*10)=-2.72246602447109 possibly effective Gene in Pan-Cancer Fusion Genes (peGinPCFGs). DoF>8 and MAII<0 | |
Context | PubMed: SMC3 [Title/Abstract] AND ADD3 [Title/Abstract] AND fusion [Title/Abstract] | ||
Most frequent breakpoint | SMC3(112344154)-ADD3(111893083), # samples:1 | ||
Anticipated loss of major functional domain due to fusion event. | SMC3-ADD3 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. SMC3-ADD3 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. SMC3-ADD3 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. SMC3-ADD3 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. SMC3-ADD3 seems lost the major protein functional domain in Hgene partner, which is a essential gene due to the frame-shifted ORF. SMC3-ADD3 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 | SMC3 | GO:0051321 | meiotic cell cycle | 12498344 |
![]() * 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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![]() * 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 | STAD | TCGA-VQ-A8PE | SMC3 | chr10 | 112344154 | + | ADD3 | chr10 | 111893083 | + |
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Fusion Gene ORF analysis for SMC3-ADD3 |
![]() * 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 |
5CDS-intron | ENST00000361804 | ENST00000497125 | SMC3 | chr10 | 112344154 | + | ADD3 | chr10 | 111893083 | + |
Frame-shift | ENST00000361804 | ENST00000356080 | SMC3 | chr10 | 112344154 | + | ADD3 | chr10 | 111893083 | + |
Frame-shift | ENST00000361804 | ENST00000360162 | SMC3 | chr10 | 112344154 | + | ADD3 | chr10 | 111893083 | + |
In-frame | ENST00000361804 | ENST00000277900 | SMC3 | chr10 | 112344154 | + | ADD3 | chr10 | 111893083 | + |
intron-3CDS | ENST00000462899 | ENST00000277900 | SMC3 | chr10 | 112344154 | + | ADD3 | chr10 | 111893083 | + |
intron-3CDS | ENST00000462899 | ENST00000356080 | SMC3 | chr10 | 112344154 | + | ADD3 | chr10 | 111893083 | + |
intron-3CDS | ENST00000462899 | ENST00000360162 | SMC3 | chr10 | 112344154 | + | ADD3 | chr10 | 111893083 | + |
intron-intron | ENST00000462899 | ENST00000497125 | SMC3 | chr10 | 112344154 | + | ADD3 | chr10 | 111893083 | + |
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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) |
ENST00000361804 | SMC3 | chr10 | 112344154 | + | ENST00000277900 | ADD3 | chr10 | 111893083 | + | 3671 | 1431 | 60 | 1487 | 475 |
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Henst | Tenst | Hgene | Hchr | Hbp | Hstrand | Tgene | Tchr | Tbp | Tstrand | No-coding score | Coding score |
ENST00000361804 | ENST00000277900 | SMC3 | chr10 | 112344154 | + | ADD3 | chr10 | 111893083 | + | 0.000280659 | 0.9997193 |
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Fusion Genomic Features for SMC3-ADD3 |
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Hgene | Hchr | Hbp | Hstrand | Tgene | Tchr | Tbp | Tstrand | 1-p | p (fusion gene breakpoint) |
SMC3 | chr10 | 112344154 | + | ADD3 | chr10 | 111893083 | + | 2.09E-07 | 0.99999976 |
SMC3 | chr10 | 112344154 | + | ADD3 | chr10 | 111893083 | + | 2.09E-07 | 0.99999976 |
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Fusion Protein Features for SMC3-ADD3 |
![]() Go to FGviewer search page for the most frequent breakpoint (https://ccsmweb.uth.edu/FGviewer/chr10:112344154/chr10:111893083) - 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 |
. | ADD3 |
FUNCTION: Transcriptional activator which is required for calcium-dependent dendritic growth and branching in cortical neurons. Recruits CREB-binding protein (CREBBP) to nuclear bodies. Component of the CREST-BRG1 complex, a multiprotein complex that regulates promoter activation by orchestrating a calcium-dependent release of a repressor complex and a recruitment of an activator complex. In resting neurons, transcription of the c-FOS promoter is inhibited by BRG1-dependent recruitment of a phospho-RB1-HDAC1 repressor complex. Upon calcium influx, RB1 is dephosphorylated by calcineurin, which leads to release of the repressor complex. At the same time, there is increased recruitment of CREBBP to the promoter by a CREST-dependent mechanism, which leads to transcriptional activation. The CREST-BRG1 complex also binds to the NR2B promoter, and activity-dependent induction of NR2B expression involves a release of HDAC1 and recruitment of CREBBP (By similarity). {ECO:0000250}. | FUNCTION: Membrane-cytoskeleton-associated protein that promotes the assembly of the spectrin-actin network. Plays a role in actin filament capping (PubMed:23836506). Binds to calmodulin. {ECO:0000269|PubMed:23836506}. |
![]() * 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 | SMC3 | chr10:112344154 | chr10:111893083 | ENST00000361804 | + | 13 | 29 | 179_350 | 435 | 1218.0 | Coiled coil | Ontology_term=ECO:0000255 |
Hgene | SMC3 | chr10:112344154 | chr10:111893083 | ENST00000361804 | + | 13 | 29 | 32_39 | 435 | 1218.0 | Nucleotide binding | ATP |
- 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 | SMC3 | chr10:112344154 | chr10:111893083 | ENST00000361804 | + | 13 | 29 | 393_503 | 435 | 1218.0 | Coiled coil | Ontology_term=ECO:0000255 |
Hgene | SMC3 | chr10:112344154 | chr10:111893083 | ENST00000361804 | + | 13 | 29 | 669_916 | 435 | 1218.0 | Coiled coil | Ontology_term=ECO:0000255 |
Hgene | SMC3 | chr10:112344154 | chr10:111893083 | ENST00000361804 | + | 13 | 29 | 958_989 | 435 | 1218.0 | Coiled coil | Ontology_term=ECO:0000255 |
Hgene | SMC3 | chr10:112344154 | chr10:111893083 | ENST00000361804 | + | 13 | 29 | 1115_1150 | 435 | 1218.0 | Compositional bias | Note=Ala/Asp-rich (DA-box) |
Hgene | SMC3 | chr10:112344154 | chr10:111893083 | ENST00000361804 | + | 13 | 29 | 530_642 | 435 | 1218.0 | Domain | Note=SMC hinge |
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Fusion Gene Sequence for SMC3-ADD3 |
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>83998_83998_1_SMC3-ADD3_SMC3_chr10_112344154_ENST00000361804_ADD3_chr10_111893083_ENST00000277900_length(transcript)=3671nt_BP=1431nt TTTTGTTTGGCTGAGGGGAGCGAGCGGCGCTTTGGGGGAGGGGTCGCGTAGGCGCCTCACCTGACCCTGCGGCCGTGCGGTTGCTGCTCC GGGGCAGGTCTCCTTCCAGGCCAGGGGCCCGGAATCATGTACATAAAGCAGGTGATTATCCAGGGTTTTCGAAGTTACAGAGATCAAACA ATTGTAGATCCCTTCAGTTCAAAACATAATGTGATTGTGGGCAGAAATGGATCTGGAAAAAGTAACTTTTTTTATGCAATTCAGTTTGTT CTCAGTGATGAGTTTAGTCATCTTCGTCCAGAACAGCGGTTGGCTTTATTGCATGAAGGTACTGGTCCTCGTGTTATTTCTGCTTTTGTG GAGATTATTTTTGATAATTCAGACAACCGGTTACCAATCGATAAAGAGGAAGTTTCACTTCGAAGAGTTATTGGTGCCAAAAAGGATCAG TATTTCTTAGACAAGAAGATGGTCACGAAAAATGATGTGATGAACCTCCTTGAAAGCGCTGGTTTTTCTCGAAGCAATCCTTATTATATT GTTAAACAAGGAAAGATCAACCAGATGGCAACAGCACCAGATTCTCAGAGATTAAAGCTATTAAGAGAAGTAGCTGGTACTAGAGTGTAT GACGAACGAAAGGAAGAAAGCATCTCCTTAATGAAAGAAACAGAGGGCAAACGGGAAAAAATCAATGAGTTGTTAAAATACATTGAAGAG AGATTACATACTCTAGAGGAAGAAAAGGAAGAACTAGCTCAGTATCAGAAGTGGGATAAAATGAGACGAGCCCTGGAATATACCATTTAC AATCAGGAACTTAACGAGACTCGTGCCAAACTTGATGAGCTTTCTGCTAAGCGAGAGACTAGTGGAGAAAAATCCAGACAATTAAGAGAT GCTCAGCAGGATGCAAGAGATAAAATGGAGGATATCGAACGCCAAGTTAGAGAATTGAAAACAAAAATTTCAGCTATGAAAGAAGAAAAA GAACAGCTTAGTGCTGAAAGACAAGAGCAGATTAAGCAGAGGACTAAGTTGGAGCTTAAAGCCAAGGATTTACAAGATGAACTAGCAGGC AATAGTGAACAAAGGAAACGTTTATTAAAAGAGAGGCAGAAGCTGCTTGAAAAAATAGAAGAAAAGCAGAAAGAACTGGCAGAAACAGAA CCCAAATTCAACAGTGTGAAAGAGAAAGAAGAACGAGGAATTGCTAGATTGGCTCAAGCTACCCAGGAAAGAACGGATCTTTATGCAAAG CAGGGTCGAGGAAGCCAGTTTACATCAAAAGAAGAAAGGGATAAGTGGATTAAAAAGGAACTCAAGTCTTTAGATCAGGCTATTAATGAC AAGAAAAGACAGATTGCTGCTATACATAAGGATTTGGAAGACACTGAAGCAAATAAAGAGAAAAATCTGGAGCAGTATAATAAAACCATG AGCTGTTTTCCAAGAGCTTCATCTCCATGGAAGTGCCTGTCATGGTAGTAAATGGCAAGGATGATATGCATGATGTTGAAGATGAGCTTG CTAAGCGAGTGAGTAGGTTAAGCACAAGTACAACCATAGAAAACATCGAGATTACTATTAAGTCTCCAGAGAAAATCGAAGAAGTCCTGT CACCTGAAGGCTCCCCTTCAAAATCGCCATCCAAGAAAAAGAAGAAATTCCGCACTCCTTCTTTTCTGAAAAAGAACAAAAAAAAGGAGA AAGTTGAGGCCTAAATAAAGTCTTTTTATAATTATTATTATAACAATGTGACATTGCACATCTAAATACCACATTTAAGTTGATCATTAA TATGCAATGGTAGATCAGATTGGGGGATGTAGCAAACTGGACTTTAAGAACTGGAAAGAGGTTTTACAAAAGAAAAACTTTCAGATTCAT CTCTCATTTTATATGTCCAGAAATGGCTTTGAATTTTAAGCAATTACTAGTTTTAATTAGCTCTGCCCTCATGAAGTATTATTATAATTC ACCATAAACAGCTATCTGTCTGAATTACTTCAGGCCTTCTCCATAATATCTGTTAGAAAGAAATTGCCAGTGAGCAAGTGAGAATTTTTA TTTCTCAATACCTGCTTCACTTGATAATCATATTATAATTTTTTATCATGATTATTGACTATATTTTTGGAGTCCCATTGTTTCAGTGGG CATTAACAGAATGCTTTAAAAACTTCTAAGACAAGAATCTATAGCATTAGTATACACTGGCACATAATTTTTTAAAAAGTTTTAAGAAAA GATTCATTTGGAATTTTATTCACAGTATAAAATTTCCTCACCTGAAGTAACTTTGTTTGCCAAAAAAGTTGTTTTAATAAACTATAATTT TTGAAAACTTCCTTTTTTATTAGTTTAGAAAGCCCCTTATTTTTCAACAAAGGGGATTTTGTACACATAACATGGGTTATTTAGTTTAAC TCTGGCAAAAAAAAAAAAAAAAATTTTGTATGTTGATGTTTGTATACCGTTCAGTATAAAAGTGTCCTAAGCATATTAGCCAATCTTTTC ACAGTAGAGCATACTTAAGGCTGCTTGGTACTGAGTATACTTAAATATAACTCCAGAATCCAGGGACTTGGTGTTAAAACAGGATTAGAG CATGTAAAGGTACATCTAGATTCATATTTGAATCTTAAACTGTATTTTTCTCTTAGTATTGCTAATGAGTAAAGAAAAGTCTCATAAGGT AGCCAAATGAAAAAGAATGAAAGGGAAAGTGAAAAATTAAGGGGACAAAAGATGGGATGTGAAAAGAAGAATTCTAGTTTGATGGTGACT CATATTCACGATAGGATACAAAGTGTGATTTGTTGGAAACATGTCCCAAATTTCTAAAATTCTGCTTCTCTGCCAAAAGCAATGTCTTTC TTGGTTGATATTTGAGTTTTAAAAGGGTCAAATCTTTCTAATTTTTTGTATCTTTAGAGGGCAGCACTAGAAGAAATCAGCAGGTCTAAT CCCACCAGTAAGAAAACTACCACTTCTTGATTTTTACAGATTTAAAAAAATCTTTTCAGTGACCTTTCTTTTTAATGTAAATACAAATTT AAACCTAGGCTTAATATAGGCGTTTCCCCTTTCACCCAAGTGATGTCACAGTTCGATGCAAAATCAATGATCCAGAATGATCGTGGGTAA AAATAACTCAAAGTGTTTCTTAAGGGTGAGTTGGCATGCAAAAAATTACATTGATTACAGTGTGTTTTGGAGCTGGCTCTGTTTGTGTGC ATATGATAATGCAGAGTTGAGCCAGAGCCTGGAAATGTCATTCTAGATCTCACTAACTACTGGAATCAGTGTTTTAATCTCTTGGTGGAA ACTTTCAGTTGCTTAACTCTCTATTGGAAGATTTTTTTAATGTTCTACATCATTTATGTTGTATTACAATGTATGTAGAAATAGTAACCT GTGAACTATGCTTTTCCATAACTTTTTAAAAATATATATATCTAAATGAATGCAATGTGCATAAATATTTTTTAAACATAACAGTGAACT ATTGCACCTTTTGCTAATGCCTCTATTTACTTGCTTTGGCATAAAGAATGAGCCAATGAACCTCTGTGTCCTGTGGAAAAATGTATAAAT >83998_83998_1_SMC3-ADD3_SMC3_chr10_112344154_ENST00000361804_ADD3_chr10_111893083_ENST00000277900_length(amino acids)=475AA_BP=457 MTLRPCGCCSGAGLLPGQGPGIMYIKQVIIQGFRSYRDQTIVDPFSSKHNVIVGRNGSGKSNFFYAIQFVLSDEFSHLRPEQRLALLHEG TGPRVISAFVEIIFDNSDNRLPIDKEEVSLRRVIGAKKDQYFLDKKMVTKNDVMNLLESAGFSRSNPYYIVKQGKINQMATAPDSQRLKL LREVAGTRVYDERKEESISLMKETEGKREKINELLKYIEERLHTLEEEKEELAQYQKWDKMRRALEYTIYNQELNETRAKLDELSAKRET SGEKSRQLRDAQQDARDKMEDIERQVRELKTKISAMKEEKEQLSAERQEQIKQRTKLELKAKDLQDELAGNSEQRKRLLKERQKLLEKIE EKQKELAETEPKFNSVKEKEERGIARLAQATQERTDLYAKQGRGSQFTSKEERDKWIKKELKSLDQAINDKKRQIAAIHKDLEDTEANKE -------------------------------------------------------------- |
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Fusion Gene PPI Analysis for SMC3-ADD3 |
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Hgene | Hgene's interactors | Tgene | Tgene's interactors |
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Partner | Gene | Hbp | Tbp | ENST | Strand | BPexon | TotalExon | Protein feature loci | *BPloci | TotalLen | Still interaction with |
Tgene | ADD3 | chr10:112344154 | chr10:111893083 | ENST00000277900 | 12 | 14 | 684_701 | 577.3333333333334 | 675.0 | calmodulin | |
Tgene | ADD3 | chr10:112344154 | chr10:111893083 | ENST00000356080 | 13 | 15 | 684_701 | 609.3333333333334 | 707.0 | calmodulin | |
Tgene | ADD3 | chr10:112344154 | chr10:111893083 | ENST00000360162 | 12 | 14 | 684_701 | 577.3333333333334 | 675.0 | calmodulin |
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Partner | Gene | Hbp | Tbp | ENST | Strand | BPexon | TotalExon | Protein feature loci | *BPloci | TotalLen | Interaction lost 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 for SMC3-ADD3 |
![]() (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 SMC3-ADD3 |
![]() (DisGeNet 4.0) |
Partner | Gene | Disease ID | Disease name | # pubmeds | Source |
Hgene | SMC3 | C1853099 | Cornelia de Lange Syndrome 3 | 3 | CTD_human;GENOMICS_ENGLAND |
Hgene | SMC3 | C0023466 | Leukemia, Monocytic, Chronic | 1 | CTD_human |
Hgene | SMC3 | C0023470 | Myeloid Leukemia | 1 | CTD_human |
Hgene | SMC3 | C1535926 | Neurodevelopmental Disorders | 1 | CTD_human |
Tgene | C0005586 | Bipolar Disorder | 1 | CTD_human | |
Tgene | C0005587 | Depression, Bipolar | 1 | CTD_human | |
Tgene | C0007786 | Brain Ischemia | 1 | CTD_human | |
Tgene | C0023893 | Liver Cirrhosis, Experimental | 1 | CTD_human | |
Tgene | C0024713 | Manic Disorder | 1 | CTD_human | |
Tgene | C0149504 | Encephalopathy, Toxic | 1 | CTD_human | |
Tgene | C0154659 | Toxic Encephalitis | 1 | CTD_human | |
Tgene | C0235032 | Neurotoxicity Syndromes | 1 | CTD_human | |
Tgene | C0338831 | Manic | 1 | CTD_human | |
Tgene | C0917798 | Cerebral Ischemia | 1 | CTD_human | |
Tgene | C2751938 | Cerebral Palsy, Spastic Quadriplegic, 1 | 1 | ORPHANET | |
Tgene | C4310767 | CEREBRAL PALSY, SPASTIC QUADRIPLEGIC, 3 | 1 | CTD_human;GENOMICS_ENGLAND;UNIPROT |