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Fusion Protein:ASNSD1-PMS1 |
Fusion Protein Summary |
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Fusion partner gene information | Fusion gene name: ASNSD1-PMS1 | FusionPDB ID: 7194 | FusionGDB2.0 ID: 7194 | Hgene | Tgene | Gene symbol | ASNSD1 | PMS1 | Gene ID | 110599588 | 5378 |
Gene name | ASNSD1 upstream reading frame | PMS1 homolog 1, mismatch repair system component | |
Synonyms | ASNSD1|ASNSD1-SEP|NS3TP1 | HNPCC3|MLH2|PMSL1|hPMS1 | |
Cytomap | 2q32 | 2q32.2 | |
Type of gene | protein-coding | protein-coding | |
Description | ASNSD1 upstream open reading frame proteinAsparagine synthetase domain-containing protein 1HCV NS3-transactivated protein 1alternative protein ASNSD1 | PMS1 protein homolog 1DNA mismatch repair protein PMS1PMS1 postmeiotic segregation increased 1human homolog of yeast mutLmismatch repair gene PMSL1rhabdomyosarcoma antigen MU-RMS-40.10Brhabdomyosarcoma antigen MU-RMS-40.10E | |
Modification date | 20200303 | 20200327 | |
UniProtAcc | Q9NWL6 | PMS1 | |
Ensembl transtripts involved in fusion gene | ENST ids | ENST00000607535, ENST00000607690, ENST00000607829, ENST00000260952, ENST00000607062, | ENST00000374826, ENST00000409823, ENST00000409985, ENST00000421722, ENST00000432292, ENST00000447232, ENST00000418224, ENST00000441310, |
Fusion gene scores for assessment (based on all fusion genes of FusionGDB 2.0) | * DoF score | 3 X 2 X 3=18 | 11 X 6 X 7=462 |
# samples | 3 | 11 | |
** MAII score | log2(3/18*10)=0.736965594166206 effective Gene in Pan-Cancer Fusion Genes (eGinPCFGs). DoF>8 and MAII>0 | log2(11/462*10)=-2.0703893278914 possibly effective Gene in Pan-Cancer Fusion Genes (peGinPCFGs). DoF>8 and MAII<0 | |
Context (manual curation of fusion genes in FusionPDB) | PubMed: ASNSD1 [Title/Abstract] AND PMS1 [Title/Abstract] AND fusion [Title/Abstract] | ||
Most frequent breakpoint (based on all fusion genes of FusionGDB 2.0) | ASNSD1(190526336)-PMS1(190708690), # samples:2 | ||
Anticipated loss of major functional domain due to fusion event. | ASNSD1-PMS1 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. ASNSD1-PMS1 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. ASNSD1-PMS1 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. ASNSD1-PMS1 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. |
* 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 |
![]() * 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 | HNSC | TCGA-IQ-A61G-01A | ASNSD1 | chr2 | 190526336 | + | PMS1 | chr2 | 190708690 | + |
ChimerDB4 | HNSC | TCGA-IQ-A61G | ASNSD1 | chr2 | 190526336 | + | PMS1 | chr2 | 190708690 | + |
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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) |
ENST00000607535 | ASNSD1 | chr2 | 190526336 | + | ENST00000441310 | PMS1 | chr2 | 190708690 | + | 2562 | 152 | 47 | 2368 | 773 |
ENST00000607535 | ASNSD1 | chr2 | 190526336 | + | ENST00000418224 | PMS1 | chr2 | 190708690 | + | 2560 | 152 | 47 | 2368 | 773 |
ENST00000607690 | ASNSD1 | chr2 | 190526336 | + | ENST00000441310 | PMS1 | chr2 | 190708690 | + | 2500 | 90 | 0 | 2306 | 768 |
ENST00000607690 | ASNSD1 | chr2 | 190526336 | + | ENST00000418224 | PMS1 | chr2 | 190708690 | + | 2498 | 90 | 0 | 2306 | 768 |
ENST00000607829 | ASNSD1 | chr2 | 190526336 | + | ENST00000441310 | PMS1 | chr2 | 190708690 | + | 2500 | 90 | 0 | 2306 | 768 |
ENST00000607829 | ASNSD1 | chr2 | 190526336 | + | ENST00000418224 | PMS1 | chr2 | 190708690 | + | 2498 | 90 | 0 | 2306 | 768 |
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Henst | Tenst | Hgene | Hchr | Hbp | Hstrand | Tgene | Tchr | Tbp | Tstrand | No-coding score | Coding score |
ENST00000607535 | ENST00000441310 | ASNSD1 | chr2 | 190526336 | + | PMS1 | chr2 | 190708690 | + | 0.000291305 | 0.9997087 |
ENST00000607535 | ENST00000418224 | ASNSD1 | chr2 | 190526336 | + | PMS1 | chr2 | 190708690 | + | 0.000289084 | 0.99971086 |
ENST00000607690 | ENST00000441310 | ASNSD1 | chr2 | 190526336 | + | PMS1 | chr2 | 190708690 | + | 0.000273298 | 0.9997267 |
ENST00000607690 | ENST00000418224 | ASNSD1 | chr2 | 190526336 | + | PMS1 | chr2 | 190708690 | + | 0.000270826 | 0.9997292 |
ENST00000607829 | ENST00000441310 | ASNSD1 | chr2 | 190526336 | + | PMS1 | chr2 | 190708690 | + | 0.000273298 | 0.9997267 |
ENST00000607829 | ENST00000418224 | ASNSD1 | chr2 | 190526336 | + | PMS1 | chr2 | 190708690 | + | 0.000270826 | 0.9997292 |
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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 >7194_7194_1_ASNSD1-PMS1_ASNSD1_chr2_190526336_ENST00000607535_PMS1_chr2_190708690_ENST00000418224_length(amino acids)=773AA_BP=1 MRSVEMPSRGTRPEDSSVLIPTDNSTPHKEDLSSKAVIWQKSRVSDHKMALMSVLGTAVMNNMESFQYHSEESQIYLSGFLPKCDADHSF TSLSTPERSFIFINSRPVHQKDILKLIRHHYNLKCLKESTRLYPVFFLKIDVPTADVDVNLTPDKSQVLLQNKESVLIALENLMTTCYGP LPSTNSYENNKTDVSAADIVLSKTAETDVLFNKVESSGKNYSNVDTSVIPFQNDMHNDESGKNTDDCLNHQISIGDFGYGHCSSEISNID KNTKNAFQDISMSNVSWENSQTEYSKTCFISSVKHTQSENGNKDHIDESGENEEEAGLENSSEISADEWSRGNILKNSVGENIEPVKILV PEKSLPCKVSNNNYPIPEQMNLNEDSCNKKSNVIDNKSGKVTAYDLLSNRVIKKPMSASALFVQDHRPQFLIENPKTSLEDATLQIEELW KTLSEEEKLKYEEKATKDLERYNSQMKRAIEQESQMSLKDGRKKIKPTSAWNLAQKHKLKTSLSNQPKLDELLQSQIEKRRSQNIKMVQI PFSMKNLKINFKKQNKVDLEEKDEPCLIHNLRFPDAWLMTSKTEVMLLNPYRVEEALLFKRLLENHKLPAEPLEKPIMLTESLFNGSHYL DVLYKMTADDQRYSGSTYLSDPRLTANGFKIKLIPGVSITENYLEIEGMANCLPFYGVADLKEILNAILNRNAKEVYECRPRKVISYLEG -------------------------------------------------------------- >7194_7194_2_ASNSD1-PMS1_ASNSD1_chr2_190526336_ENST00000607535_PMS1_chr2_190708690_ENST00000441310_length(amino acids)=773AA_BP=1 MRSVEMPSRGTRPEDSSVLIPTDNSTPHKEDLSSKAVIWQKSRVSDHKMALMSVLGTAVMNNMESFQYHSEESQIYLSGFLPKCDADHSF TSLSTPERSFIFINSRPVHQKDILKLIRHHYNLKCLKESTRLYPVFFLKIDVPTADVDVNLTPDKSQVLLQNKESVLIALENLMTTCYGP LPSTNSYENNKTDVSAADIVLSKTAETDVLFNKVESSGKNYSNVDTSVIPFQNDMHNDESGKNTDDCLNHQISIGDFGYGHCSSEISNID KNTKNAFQDISMSNVSWENSQTEYSKTCFISSVKHTQSENGNKDHIDESGENEEEAGLENSSEISADEWSRGNILKNSVGENIEPVKILV PEKSLPCKVSNNNYPIPEQMNLNEDSCNKKSNVIDNKSGKVTAYDLLSNRVIKKPMSASALFVQDHRPQFLIENPKTSLEDATLQIEELW KTLSEEEKLKYEEKATKDLERYNSQMKRAIEQESQMSLKDGRKKIKPTSAWNLAQKHKLKTSLSNQPKLDELLQSQIEKRRSQNIKMVQI PFSMKNLKINFKKQNKVDLEEKDEPCLIHNLRFPDAWLMTSKTEVMLLNPYRVEEALLFKRLLENHKLPAEPLEKPIMLTESLFNGSHYL DVLYKMTADDQRYSGSTYLSDPRLTANGFKIKLIPGVSITENYLEIEGMANCLPFYGVADLKEILNAILNRNAKEVYECRPRKVISYLEG -------------------------------------------------------------- >7194_7194_3_ASNSD1-PMS1_ASNSD1_chr2_190526336_ENST00000607690_PMS1_chr2_190708690_ENST00000418224_length(amino acids)=768AA_BP=0 MPSRGTRPEDSSVLIPTDNSTPHKEDLSSKAVIWQKSRVSDHKMALMSVLGTAVMNNMESFQYHSEESQIYLSGFLPKCDADHSFTSLST PERSFIFINSRPVHQKDILKLIRHHYNLKCLKESTRLYPVFFLKIDVPTADVDVNLTPDKSQVLLQNKESVLIALENLMTTCYGPLPSTN SYENNKTDVSAADIVLSKTAETDVLFNKVESSGKNYSNVDTSVIPFQNDMHNDESGKNTDDCLNHQISIGDFGYGHCSSEISNIDKNTKN AFQDISMSNVSWENSQTEYSKTCFISSVKHTQSENGNKDHIDESGENEEEAGLENSSEISADEWSRGNILKNSVGENIEPVKILVPEKSL PCKVSNNNYPIPEQMNLNEDSCNKKSNVIDNKSGKVTAYDLLSNRVIKKPMSASALFVQDHRPQFLIENPKTSLEDATLQIEELWKTLSE EEKLKYEEKATKDLERYNSQMKRAIEQESQMSLKDGRKKIKPTSAWNLAQKHKLKTSLSNQPKLDELLQSQIEKRRSQNIKMVQIPFSMK NLKINFKKQNKVDLEEKDEPCLIHNLRFPDAWLMTSKTEVMLLNPYRVEEALLFKRLLENHKLPAEPLEKPIMLTESLFNGSHYLDVLYK MTADDQRYSGSTYLSDPRLTANGFKIKLIPGVSITENYLEIEGMANCLPFYGVADLKEILNAILNRNAKEVYECRPRKVISYLEGEAVRL -------------------------------------------------------------- >7194_7194_4_ASNSD1-PMS1_ASNSD1_chr2_190526336_ENST00000607690_PMS1_chr2_190708690_ENST00000441310_length(amino acids)=768AA_BP=0 MPSRGTRPEDSSVLIPTDNSTPHKEDLSSKAVIWQKSRVSDHKMALMSVLGTAVMNNMESFQYHSEESQIYLSGFLPKCDADHSFTSLST PERSFIFINSRPVHQKDILKLIRHHYNLKCLKESTRLYPVFFLKIDVPTADVDVNLTPDKSQVLLQNKESVLIALENLMTTCYGPLPSTN SYENNKTDVSAADIVLSKTAETDVLFNKVESSGKNYSNVDTSVIPFQNDMHNDESGKNTDDCLNHQISIGDFGYGHCSSEISNIDKNTKN AFQDISMSNVSWENSQTEYSKTCFISSVKHTQSENGNKDHIDESGENEEEAGLENSSEISADEWSRGNILKNSVGENIEPVKILVPEKSL PCKVSNNNYPIPEQMNLNEDSCNKKSNVIDNKSGKVTAYDLLSNRVIKKPMSASALFVQDHRPQFLIENPKTSLEDATLQIEELWKTLSE EEKLKYEEKATKDLERYNSQMKRAIEQESQMSLKDGRKKIKPTSAWNLAQKHKLKTSLSNQPKLDELLQSQIEKRRSQNIKMVQIPFSMK NLKINFKKQNKVDLEEKDEPCLIHNLRFPDAWLMTSKTEVMLLNPYRVEEALLFKRLLENHKLPAEPLEKPIMLTESLFNGSHYLDVLYK MTADDQRYSGSTYLSDPRLTANGFKIKLIPGVSITENYLEIEGMANCLPFYGVADLKEILNAILNRNAKEVYECRPRKVISYLEGEAVRL -------------------------------------------------------------- >7194_7194_5_ASNSD1-PMS1_ASNSD1_chr2_190526336_ENST00000607829_PMS1_chr2_190708690_ENST00000418224_length(amino acids)=768AA_BP=0 MPSRGTRPEDSSVLIPTDNSTPHKEDLSSKAVIWQKSRVSDHKMALMSVLGTAVMNNMESFQYHSEESQIYLSGFLPKCDADHSFTSLST PERSFIFINSRPVHQKDILKLIRHHYNLKCLKESTRLYPVFFLKIDVPTADVDVNLTPDKSQVLLQNKESVLIALENLMTTCYGPLPSTN SYENNKTDVSAADIVLSKTAETDVLFNKVESSGKNYSNVDTSVIPFQNDMHNDESGKNTDDCLNHQISIGDFGYGHCSSEISNIDKNTKN AFQDISMSNVSWENSQTEYSKTCFISSVKHTQSENGNKDHIDESGENEEEAGLENSSEISADEWSRGNILKNSVGENIEPVKILVPEKSL PCKVSNNNYPIPEQMNLNEDSCNKKSNVIDNKSGKVTAYDLLSNRVIKKPMSASALFVQDHRPQFLIENPKTSLEDATLQIEELWKTLSE EEKLKYEEKATKDLERYNSQMKRAIEQESQMSLKDGRKKIKPTSAWNLAQKHKLKTSLSNQPKLDELLQSQIEKRRSQNIKMVQIPFSMK NLKINFKKQNKVDLEEKDEPCLIHNLRFPDAWLMTSKTEVMLLNPYRVEEALLFKRLLENHKLPAEPLEKPIMLTESLFNGSHYLDVLYK MTADDQRYSGSTYLSDPRLTANGFKIKLIPGVSITENYLEIEGMANCLPFYGVADLKEILNAILNRNAKEVYECRPRKVISYLEGEAVRL -------------------------------------------------------------- >7194_7194_6_ASNSD1-PMS1_ASNSD1_chr2_190526336_ENST00000607829_PMS1_chr2_190708690_ENST00000441310_length(amino acids)=768AA_BP=0 MPSRGTRPEDSSVLIPTDNSTPHKEDLSSKAVIWQKSRVSDHKMALMSVLGTAVMNNMESFQYHSEESQIYLSGFLPKCDADHSFTSLST PERSFIFINSRPVHQKDILKLIRHHYNLKCLKESTRLYPVFFLKIDVPTADVDVNLTPDKSQVLLQNKESVLIALENLMTTCYGPLPSTN SYENNKTDVSAADIVLSKTAETDVLFNKVESSGKNYSNVDTSVIPFQNDMHNDESGKNTDDCLNHQISIGDFGYGHCSSEISNIDKNTKN AFQDISMSNVSWENSQTEYSKTCFISSVKHTQSENGNKDHIDESGENEEEAGLENSSEISADEWSRGNILKNSVGENIEPVKILVPEKSL PCKVSNNNYPIPEQMNLNEDSCNKKSNVIDNKSGKVTAYDLLSNRVIKKPMSASALFVQDHRPQFLIENPKTSLEDATLQIEELWKTLSE EEKLKYEEKATKDLERYNSQMKRAIEQESQMSLKDGRKKIKPTSAWNLAQKHKLKTSLSNQPKLDELLQSQIEKRRSQNIKMVQIPFSMK NLKINFKKQNKVDLEEKDEPCLIHNLRFPDAWLMTSKTEVMLLNPYRVEEALLFKRLLENHKLPAEPLEKPIMLTESLFNGSHYLDVLYK MTADDQRYSGSTYLSDPRLTANGFKIKLIPGVSITENYLEIEGMANCLPFYGVADLKEILNAILNRNAKEVYECRPRKVISYLEGEAVRL -------------------------------------------------------------- |
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Fusion Protein Functional Features |
![]() Go to FGviewer search page for the most frequent breakpoint (https://ccsmweb.uth.edu/FGviewer/chr2:190526336/chr2:190708690) - 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 |
ASNSD1 | PMS1 |
932 |
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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 |
Tgene | PMS1 | chr2:190526336 | chr2:190708690 | ENST00000409823 | 0 | 12 | 571_639 | 0 | 894.0 | DNA binding | HMG box | |
Tgene | PMS1 | chr2:190526336 | chr2:190708690 | ENST00000441310 | 4 | 13 | 571_639 | 194.0 | 933.0 | DNA binding | HMG box | |
Tgene | PMS1 | chr2:190526336 | chr2:190708690 | ENST00000447232 | 4 | 12 | 571_639 | 194.0 | 771.0 | DNA binding | HMG box |
- 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 | ASNSD1 | chr2:190526336 | chr2:190708690 | ENST00000260952 | + | 1 | 6 | 285_601 | 0 | 644.0 | Domain | Note=Asparagine synthetase |
Hgene | ASNSD1 | chr2:190526336 | chr2:190708690 | ENST00000260952 | + | 1 | 6 | 2_184 | 0 | 644.0 | Domain | Glutamine amidotransferase type-2 |
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Fusion Protein Structures |
![]() * Here we show the 3D structure of the fusion proteins using Mol*. AlphaFold produces a per-residue confidence score (pLDDT) between 0 and 100. Model confidence is shown from the pLDDT values per residue. pLDDT corresponds to the model’s prediction of its score on the local Distance Difference Test. It is a measure of local accuracy (from AlphfaFold website). To color code individual residues, we transformed individual PDB files into CIF format. |
Fusion protein PDB link (fusion AA seq ID in FusionPDB) | Hgene | Hchr | Hbp | Hstrand | Tgene | Tchr | Tbp | Tstrand | AA seq | Len(AA seq) |
PDB file >>>1550_ASNSD1_190526336_PMS1_190708690_ranked_0.pdb | ASNSD1 | 190526336 | 190526336 | ENST00000418224 | PMS1 | chr2 | 190708690 | + | MRSVEMPSRGTRPEDSSVLIPTDNSTPHKEDLSSKAVIWQKSRVSDHKMALMSVLGTAVMNNMESFQYHSEESQIYLSGFLPKCDADHSF TSLSTPERSFIFINSRPVHQKDILKLIRHHYNLKCLKESTRLYPVFFLKIDVPTADVDVNLTPDKSQVLLQNKESVLIALENLMTTCYGP LPSTNSYENNKTDVSAADIVLSKTAETDVLFNKVESSGKNYSNVDTSVIPFQNDMHNDESGKNTDDCLNHQISIGDFGYGHCSSEISNID KNTKNAFQDISMSNVSWENSQTEYSKTCFISSVKHTQSENGNKDHIDESGENEEEAGLENSSEISADEWSRGNILKNSVGENIEPVKILV PEKSLPCKVSNNNYPIPEQMNLNEDSCNKKSNVIDNKSGKVTAYDLLSNRVIKKPMSASALFVQDHRPQFLIENPKTSLEDATLQIEELW KTLSEEEKLKYEEKATKDLERYNSQMKRAIEQESQMSLKDGRKKIKPTSAWNLAQKHKLKTSLSNQPKLDELLQSQIEKRRSQNIKMVQI PFSMKNLKINFKKQNKVDLEEKDEPCLIHNLRFPDAWLMTSKTEVMLLNPYRVEEALLFKRLLENHKLPAEPLEKPIMLTESLFNGSHYL DVLYKMTADDQRYSGSTYLSDPRLTANGFKIKLIPGVSITENYLEIEGMANCLPFYGVADLKEILNAILNRNAKEVYECRPRKVISYLEG | 773 |
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pLDDT score distribution |
![]() * AlphaFold produces a per-residue confidence score (pLDDT) between 0 and 100. |
ASNSD1_pLDDT.png![]() |
PMS1_pLDDT.png![]() |
![]() * AlphaFold produces a per-residue confidence score (pLDDT) between 0 and 100. |
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Ramachandran Plot of Fusion Protein Structure |
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Fusion AA seq ID in FusionPDB and their Ramachandran plots |
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Fusion Protein-Protein Interaction |
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Gene | PPI interactors |
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Gene | STRING network |
ASNSD1 | |
PMS1 |
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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 ASNSD1-PMS1 |
![]() (Manual curation of PubMed, 04-30-2022 + MyCancerGenome) |
Hgene | Tgene | Drug | Source | PMID |
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Related Diseases to ASNSD1-PMS1 |
![]() (Manual curation of PubMed, 04-30-2022 + MyCancerGenome) |
Hgene | Tgene | Disease | Source | PMID |
![]() (DisGeNet 4.0) |
Partner | Gene | Disease ID | Disease name | # pubmeds | Source |