| UTHEALTH HOME ABOUT SBMI A-Z WEBMAIL INSIDE THE UNIVERSITY |
|
|||||||
|
Fusion Protein:MSH2-SLC3A1 |
Fusion Protein Summary |
 Fusion gene summary |
| Fusion partner gene information | Fusion gene name: MSH2-SLC3A1 | FusionPDB ID: 55274 | FusionGDB2.0 ID: 55274 | Hgene | Tgene | Gene symbol | MSH2 | SLC3A1 | Gene ID | 4436 | 6519 |
| Gene name | mutS homolog 2 | solute carrier family 3 member 1 | |
| Synonyms | COCA1|FCC1|HNPCC|HNPCC1|LCFS2|hMSH2 | ATR1|CSNU1|D2H|NBAT|RBAT | |
| Cytomap | 2p21-p16.3 | 2p21 | |
| Type of gene | protein-coding | protein-coding | |
| Description | DNA mismatch repair protein Msh2DNA mismatch repair protein Msh2 transcriptmutS homolog 2, colon cancer, nonpolyposis type 1 | neutral and basic amino acid transport protein rBATB(0,+)-type amino acid transport proteinSLC3A1 variant BSLC3A1 variant CSLC3A1 variant DSLC3A1 variant ESLC3A1 variant FSLC3A1 variant Gamino acid transporter 1solute carrier family 3 (amino acid | |
| Modification date | 20200322 | 20200313 | |
| UniProtAcc | P43246 | . | |
| Ensembl transtripts involved in fusion gene | ENST ids | ENST00000233146, ENST00000406134, ENST00000543555, ENST00000461394, | ENST00000409229, ENST00000409294, ENST00000409380, ENST00000409740, ENST00000409741, ENST00000410056, ENST00000260649, ENST00000409387, |
| Fusion gene scores for assessment (based on all fusion genes of FusionGDB 2.0) | * DoF score | 15 X 12 X 10=1800 | 1 X 2 X 1=2 |
| # samples | 23 | 2 | |
| ** MAII score | log2(23/1800*10)=-2.96829114027266 possibly effective Gene in Pan-Cancer Fusion Genes (peGinPCFGs). DoF>8 and MAII<0 | log2(2/2*10)=3.32192809488736 | |
| Context (manual curation of fusion genes in FusionPDB) | PubMed: MSH2 [Title/Abstract] AND SLC3A1 [Title/Abstract] AND fusion [Title/Abstract] | ||
| Most frequent breakpoint (based on all fusion genes of FusionGDB 2.0) | MSH2(47637511)-SLC3A1(44539725), # samples:3 | ||
| Anticipated loss of major functional domain due to fusion event. | MSH2-SLC3A1 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. MSH2-SLC3A1 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) |
| 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 | MSH2 | GO:0006281 | DNA repair | 8942985 |
| Hgene | MSH2 | GO:0006298 | mismatch repair | 7923193|11555625 |
| Hgene | MSH2 | GO:0006301 | postreplication repair | 7923193 |
| Hgene | MSH2 | GO:0045910 | negative regulation of DNA recombination | 17715146 |
| Hgene | MSH2 | GO:0051096 | positive regulation of helicase activity | 17715146 |
| Fusion gene breakpoints across MSH2 (5'-gene) * Click on the image to open the UCSC genome browser with custom track showing this image in a new window. |
 |
| Fusion gene breakpoints across SLC3A1 (3'-gene) * Click on the image to open the UCSC genome browser with custom track showing this image in a new window. |
 |
Top |
Fusion Gene Sample Information |
| Fusion gene information from FusionGDB2.0. |
| Fusion gene information from two resources (ChiTars 5.0 and ChimerDB 4.0) * 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-A2-A04U-01A | MSH2 | chr2 | 47637511 | - | SLC3A1 | chr2 | 44539725 | + |
| ChimerDB4 | BRCA | TCGA-A2-A04U-01A | MSH2 | chr2 | 47637511 | + | SLC3A1 | chr2 | 44539725 | + |
| ChimerDB4 | BRCA | TCGA-A2-A04U | MSH2 | chr2 | 47637511 | + | SLC3A1 | chr2 | 44539724 | + |
Top |
Fusion ORF Analysis |
| Fusion information from ORFfinder translation from full-length transcript sequence from FusionPDB. |
| 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) |
| ENST00000233146 | MSH2 | chr2 | 47637511 | + | ENST00000260649 | SLC3A1 | chr2 | 44539725 | + | 2449 | 868 | 223 | 1593 | 456 |
| ENST00000233146 | MSH2 | chr2 | 47637511 | + | ENST00000409387 | SLC3A1 | chr2 | 44539725 | + | 1791 | 868 | 223 | 1230 | 335 |
| ENST00000543555 | MSH2 | chr2 | 47637511 | + | ENST00000260649 | SLC3A1 | chr2 | 44539725 | + | 2167 | 586 | 7 | 1311 | 434 |
| ENST00000543555 | MSH2 | chr2 | 47637511 | + | ENST00000409387 | SLC3A1 | chr2 | 44539725 | + | 1509 | 586 | 7 | 948 | 313 |
| ENST00000406134 | MSH2 | chr2 | 47637511 | + | ENST00000260649 | SLC3A1 | chr2 | 44539725 | + | 2288 | 707 | 62 | 1432 | 456 |
| ENST00000406134 | MSH2 | chr2 | 47637511 | + | ENST00000409387 | SLC3A1 | chr2 | 44539725 | + | 1630 | 707 | 62 | 1069 | 335 |
| ENST00000233146 | MSH2 | chr2 | 47637511 | + | ENST00000260649 | SLC3A1 | chr2 | 44539724 | + | 2449 | 868 | 223 | 1593 | 456 |
| ENST00000233146 | MSH2 | chr2 | 47637511 | + | ENST00000409387 | SLC3A1 | chr2 | 44539724 | + | 1791 | 868 | 223 | 1230 | 335 |
| ENST00000543555 | MSH2 | chr2 | 47637511 | + | ENST00000260649 | SLC3A1 | chr2 | 44539724 | + | 2167 | 586 | 7 | 1311 | 434 |
| ENST00000543555 | MSH2 | chr2 | 47637511 | + | ENST00000409387 | SLC3A1 | chr2 | 44539724 | + | 1509 | 586 | 7 | 948 | 313 |
| ENST00000406134 | MSH2 | chr2 | 47637511 | + | ENST00000260649 | SLC3A1 | chr2 | 44539724 | + | 2288 | 707 | 62 | 1432 | 456 |
| ENST00000406134 | MSH2 | chr2 | 47637511 | + | ENST00000409387 | SLC3A1 | chr2 | 44539724 | + | 1630 | 707 | 62 | 1069 | 335 |
| DeepORF prediction of the coding potential based on the fusion transcript sequence of in-frame fusion genes. DeepORF is a coding potential classifier based on convolutional neural network by comparing the real Ribo-seq data. If the no-coding score < 0.5 and coding score > 0.5, then the in-frame fusion transcript is predicted as being likely translated. |
| Henst | Tenst | Hgene | Hchr | Hbp | Hstrand | Tgene | Tchr | Tbp | Tstrand | No-coding score | Coding score |
| ENST00000233146 | ENST00000260649 | MSH2 | chr2 | 47637511 | + | SLC3A1 | chr2 | 44539725 | + | 0.00027961 | 0.9997204 |
| ENST00000233146 | ENST00000409387 | MSH2 | chr2 | 47637511 | + | SLC3A1 | chr2 | 44539725 | + | 0.000275799 | 0.9997242 |
| ENST00000543555 | ENST00000260649 | MSH2 | chr2 | 47637511 | + | SLC3A1 | chr2 | 44539725 | + | 0.000220753 | 0.9997793 |
| ENST00000543555 | ENST00000409387 | MSH2 | chr2 | 47637511 | + | SLC3A1 | chr2 | 44539725 | + | 0.000382571 | 0.99961746 |
| ENST00000406134 | ENST00000260649 | MSH2 | chr2 | 47637511 | + | SLC3A1 | chr2 | 44539725 | + | 0.000266209 | 0.99973375 |
| ENST00000406134 | ENST00000409387 | MSH2 | chr2 | 47637511 | + | SLC3A1 | chr2 | 44539725 | + | 0.000236939 | 0.9997631 |
| ENST00000233146 | ENST00000260649 | MSH2 | chr2 | 47637511 | + | SLC3A1 | chr2 | 44539724 | + | 0.00027961 | 0.9997204 |
| ENST00000233146 | ENST00000409387 | MSH2 | chr2 | 47637511 | + | SLC3A1 | chr2 | 44539724 | + | 0.000275799 | 0.9997242 |
| ENST00000543555 | ENST00000260649 | MSH2 | chr2 | 47637511 | + | SLC3A1 | chr2 | 44539724 | + | 0.000220753 | 0.9997793 |
| ENST00000543555 | ENST00000409387 | MSH2 | chr2 | 47637511 | + | SLC3A1 | chr2 | 44539724 | + | 0.000382571 | 0.99961746 |
| ENST00000406134 | ENST00000260649 | MSH2 | chr2 | 47637511 | + | SLC3A1 | chr2 | 44539724 | + | 0.000266209 | 0.99973375 |
| ENST00000406134 | ENST00000409387 | MSH2 | chr2 | 47637511 | + | SLC3A1 | chr2 | 44539724 | + | 0.000236939 | 0.9997631 |
Top |
Fusion Amino Acid Sequences |
| For individual full-length fusion transcript sequence from FusionPDB, we ran ORFfinder and chose the longest ORF among the all predicted ones. |
| >FusionGDB ID_FusionGDB isoform ID_FGname_Hgene_Hchr_Hbp_Henst_Tgene_Tchr_Tbp_Tenst_length(fusion AA) seq_BP >55274_55274_1_MSH2-SLC3A1_MSH2_chr2_47637511_ENST00000233146_SLC3A1_chr2_44539724_ENST00000260649_length(amino acids)=456AA_BP=181 MAVQPKETLQLESAAEVGFVRFFQGMPEKPTTTVRLFDRGDFYTAHGEDALLAAREVFKTQGVIKYMGPAGAKNLQSVVLSKMNFESFVK DLLLVRQYRVEVYKNRAGNKASKENDWYLAYKASPGNLSQFEDILFGNNDMSASIGVVGVKMSAVDGQRQVGVGYVDSIQRKLGLCEFPD NDQFSNLEALLIQIGPKECVLPGGETAGDMGKLRQIGGPDSSRLTSRLGNQYVNVMNMLLFTLPGTPITYYGEEIGMGNIVAANLNESYD INTLRSKSPMQWDNSSNAGFSEASNTWLPTNSDYHTVNVDVQKTQPRSALKLYQDLSLLHANELLLNRGWFCHLRNDSHYVVYTRELDGI DRIFIVVLNFGESTLLNLHNMISGLPAKMRIRLSTNSADKGSKVDTSGIFLDKGEGLIFEHNTKNLLHRQTAFRDRCFVSNRACYSSVLN -------------------------------------------------------------- >55274_55274_2_MSH2-SLC3A1_MSH2_chr2_47637511_ENST00000233146_SLC3A1_chr2_44539724_ENST00000409387_length(amino acids)=335AA_BP=181 MAVQPKETLQLESAAEVGFVRFFQGMPEKPTTTVRLFDRGDFYTAHGEDALLAAREVFKTQGVIKYMGPAGAKNLQSVVLSKMNFESFVK DLLLVRQYRVEVYKNRAGNKASKENDWYLAYKASPGNLSQFEDILFGNNDMSASIGVVGVKMSAVDGQRQVGVGYVDSIQRKLGLCEFPD NDQFSNLEALLIQIGPKECVLPGGETAGDMGKLRQIGGPDSSRLTSRLGNQYVNVMNMLLFTLPGTPITYYGEEIGMGNIVAANLNESYD -------------------------------------------------------------- >55274_55274_3_MSH2-SLC3A1_MSH2_chr2_47637511_ENST00000233146_SLC3A1_chr2_44539725_ENST00000260649_length(amino acids)=456AA_BP=181 MAVQPKETLQLESAAEVGFVRFFQGMPEKPTTTVRLFDRGDFYTAHGEDALLAAREVFKTQGVIKYMGPAGAKNLQSVVLSKMNFESFVK DLLLVRQYRVEVYKNRAGNKASKENDWYLAYKASPGNLSQFEDILFGNNDMSASIGVVGVKMSAVDGQRQVGVGYVDSIQRKLGLCEFPD NDQFSNLEALLIQIGPKECVLPGGETAGDMGKLRQIGGPDSSRLTSRLGNQYVNVMNMLLFTLPGTPITYYGEEIGMGNIVAANLNESYD INTLRSKSPMQWDNSSNAGFSEASNTWLPTNSDYHTVNVDVQKTQPRSALKLYQDLSLLHANELLLNRGWFCHLRNDSHYVVYTRELDGI DRIFIVVLNFGESTLLNLHNMISGLPAKMRIRLSTNSADKGSKVDTSGIFLDKGEGLIFEHNTKNLLHRQTAFRDRCFVSNRACYSSVLN -------------------------------------------------------------- >55274_55274_4_MSH2-SLC3A1_MSH2_chr2_47637511_ENST00000233146_SLC3A1_chr2_44539725_ENST00000409387_length(amino acids)=335AA_BP=181 MAVQPKETLQLESAAEVGFVRFFQGMPEKPTTTVRLFDRGDFYTAHGEDALLAAREVFKTQGVIKYMGPAGAKNLQSVVLSKMNFESFVK DLLLVRQYRVEVYKNRAGNKASKENDWYLAYKASPGNLSQFEDILFGNNDMSASIGVVGVKMSAVDGQRQVGVGYVDSIQRKLGLCEFPD NDQFSNLEALLIQIGPKECVLPGGETAGDMGKLRQIGGPDSSRLTSRLGNQYVNVMNMLLFTLPGTPITYYGEEIGMGNIVAANLNESYD -------------------------------------------------------------- >55274_55274_5_MSH2-SLC3A1_MSH2_chr2_47637511_ENST00000406134_SLC3A1_chr2_44539724_ENST00000260649_length(amino acids)=456AA_BP=181 MAVQPKETLQLESAAEVGFVRFFQGMPEKPTTTVRLFDRGDFYTAHGEDALLAAREVFKTQGVIKYMGPAGAKNLQSVVLSKMNFESFVK DLLLVRQYRVEVYKNRAGNKASKENDWYLAYKASPGNLSQFEDILFGNNDMSASIGVVGVKMSAVDGQRQVGVGYVDSIQRKLGLCEFPD NDQFSNLEALLIQIGPKECVLPGGETAGDMGKLRQIGGPDSSRLTSRLGNQYVNVMNMLLFTLPGTPITYYGEEIGMGNIVAANLNESYD INTLRSKSPMQWDNSSNAGFSEASNTWLPTNSDYHTVNVDVQKTQPRSALKLYQDLSLLHANELLLNRGWFCHLRNDSHYVVYTRELDGI DRIFIVVLNFGESTLLNLHNMISGLPAKMRIRLSTNSADKGSKVDTSGIFLDKGEGLIFEHNTKNLLHRQTAFRDRCFVSNRACYSSVLN -------------------------------------------------------------- >55274_55274_6_MSH2-SLC3A1_MSH2_chr2_47637511_ENST00000406134_SLC3A1_chr2_44539724_ENST00000409387_length(amino acids)=335AA_BP=181 MAVQPKETLQLESAAEVGFVRFFQGMPEKPTTTVRLFDRGDFYTAHGEDALLAAREVFKTQGVIKYMGPAGAKNLQSVVLSKMNFESFVK DLLLVRQYRVEVYKNRAGNKASKENDWYLAYKASPGNLSQFEDILFGNNDMSASIGVVGVKMSAVDGQRQVGVGYVDSIQRKLGLCEFPD NDQFSNLEALLIQIGPKECVLPGGETAGDMGKLRQIGGPDSSRLTSRLGNQYVNVMNMLLFTLPGTPITYYGEEIGMGNIVAANLNESYD -------------------------------------------------------------- >55274_55274_7_MSH2-SLC3A1_MSH2_chr2_47637511_ENST00000406134_SLC3A1_chr2_44539725_ENST00000260649_length(amino acids)=456AA_BP=181 MAVQPKETLQLESAAEVGFVRFFQGMPEKPTTTVRLFDRGDFYTAHGEDALLAAREVFKTQGVIKYMGPAGAKNLQSVVLSKMNFESFVK DLLLVRQYRVEVYKNRAGNKASKENDWYLAYKASPGNLSQFEDILFGNNDMSASIGVVGVKMSAVDGQRQVGVGYVDSIQRKLGLCEFPD NDQFSNLEALLIQIGPKECVLPGGETAGDMGKLRQIGGPDSSRLTSRLGNQYVNVMNMLLFTLPGTPITYYGEEIGMGNIVAANLNESYD INTLRSKSPMQWDNSSNAGFSEASNTWLPTNSDYHTVNVDVQKTQPRSALKLYQDLSLLHANELLLNRGWFCHLRNDSHYVVYTRELDGI DRIFIVVLNFGESTLLNLHNMISGLPAKMRIRLSTNSADKGSKVDTSGIFLDKGEGLIFEHNTKNLLHRQTAFRDRCFVSNRACYSSVLN -------------------------------------------------------------- >55274_55274_8_MSH2-SLC3A1_MSH2_chr2_47637511_ENST00000406134_SLC3A1_chr2_44539725_ENST00000409387_length(amino acids)=335AA_BP=181 MAVQPKETLQLESAAEVGFVRFFQGMPEKPTTTVRLFDRGDFYTAHGEDALLAAREVFKTQGVIKYMGPAGAKNLQSVVLSKMNFESFVK DLLLVRQYRVEVYKNRAGNKASKENDWYLAYKASPGNLSQFEDILFGNNDMSASIGVVGVKMSAVDGQRQVGVGYVDSIQRKLGLCEFPD NDQFSNLEALLIQIGPKECVLPGGETAGDMGKLRQIGGPDSSRLTSRLGNQYVNVMNMLLFTLPGTPITYYGEEIGMGNIVAANLNESYD -------------------------------------------------------------- >55274_55274_9_MSH2-SLC3A1_MSH2_chr2_47637511_ENST00000543555_SLC3A1_chr2_44539724_ENST00000260649_length(amino acids)=434AA_BP=159 MGVVAVAGRRSGDVGGEAGNSLVGVGSRIFFNQEVFKTQGVIKYMGPAGAKNLQSVVLSKMNFESFVKDLLLVRQYRVEVYKNRAGNKAS KENDWYLAYKASPGNLSQFEDILFGNNDMSASIGVVGVKMSAVDGQRQVGVGYVDSIQRKLGLCEFPDNDQFSNLEALLIQIGPKECVLP GGETAGDMGKLRQIGGPDSSRLTSRLGNQYVNVMNMLLFTLPGTPITYYGEEIGMGNIVAANLNESYDINTLRSKSPMQWDNSSNAGFSE ASNTWLPTNSDYHTVNVDVQKTQPRSALKLYQDLSLLHANELLLNRGWFCHLRNDSHYVVYTRELDGIDRIFIVVLNFGESTLLNLHNMI -------------------------------------------------------------- >55274_55274_10_MSH2-SLC3A1_MSH2_chr2_47637511_ENST00000543555_SLC3A1_chr2_44539724_ENST00000409387_length(amino acids)=313AA_BP=159 MGVVAVAGRRSGDVGGEAGNSLVGVGSRIFFNQEVFKTQGVIKYMGPAGAKNLQSVVLSKMNFESFVKDLLLVRQYRVEVYKNRAGNKAS KENDWYLAYKASPGNLSQFEDILFGNNDMSASIGVVGVKMSAVDGQRQVGVGYVDSIQRKLGLCEFPDNDQFSNLEALLIQIGPKECVLP GGETAGDMGKLRQIGGPDSSRLTSRLGNQYVNVMNMLLFTLPGTPITYYGEEIGMGNIVAANLNESYDINTLRSKSPMQWDNSSNAGFSE -------------------------------------------------------------- >55274_55274_11_MSH2-SLC3A1_MSH2_chr2_47637511_ENST00000543555_SLC3A1_chr2_44539725_ENST00000260649_length(amino acids)=434AA_BP=159 MGVVAVAGRRSGDVGGEAGNSLVGVGSRIFFNQEVFKTQGVIKYMGPAGAKNLQSVVLSKMNFESFVKDLLLVRQYRVEVYKNRAGNKAS KENDWYLAYKASPGNLSQFEDILFGNNDMSASIGVVGVKMSAVDGQRQVGVGYVDSIQRKLGLCEFPDNDQFSNLEALLIQIGPKECVLP GGETAGDMGKLRQIGGPDSSRLTSRLGNQYVNVMNMLLFTLPGTPITYYGEEIGMGNIVAANLNESYDINTLRSKSPMQWDNSSNAGFSE ASNTWLPTNSDYHTVNVDVQKTQPRSALKLYQDLSLLHANELLLNRGWFCHLRNDSHYVVYTRELDGIDRIFIVVLNFGESTLLNLHNMI -------------------------------------------------------------- >55274_55274_12_MSH2-SLC3A1_MSH2_chr2_47637511_ENST00000543555_SLC3A1_chr2_44539725_ENST00000409387_length(amino acids)=313AA_BP=159 MGVVAVAGRRSGDVGGEAGNSLVGVGSRIFFNQEVFKTQGVIKYMGPAGAKNLQSVVLSKMNFESFVKDLLLVRQYRVEVYKNRAGNKAS KENDWYLAYKASPGNLSQFEDILFGNNDMSASIGVVGVKMSAVDGQRQVGVGYVDSIQRKLGLCEFPDNDQFSNLEALLIQIGPKECVLP GGETAGDMGKLRQIGGPDSSRLTSRLGNQYVNVMNMLLFTLPGTPITYYGEEIGMGNIVAANLNESYDINTLRSKSPMQWDNSSNAGFSE -------------------------------------------------------------- |
Top |
Fusion Protein Functional Features |
| Four levels of functional features of fusion genes Go to FGviewer search page for the most frequent breakpoint (https://ccsmweb.uth.edu/FGviewer/chr2:47637511/chr2:44539725) - 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. |
 |
| Main function of each fusion partner protein. (from UniProt) |
| Hgene | Tgene |
| MSH2 | . |
| FUNCTION: Component of the post-replicative DNA mismatch repair system (MMR). Forms two different heterodimers: MutS alpha (MSH2-MSH6 heterodimer) and MutS beta (MSH2-MSH3 heterodimer) which binds to DNA mismatches thereby initiating DNA repair. When bound, heterodimers bend the DNA helix and shields approximately 20 base pairs. MutS alpha recognizes single base mismatches and dinucleotide insertion-deletion loops (IDL) in the DNA. MutS beta recognizes larger insertion-deletion loops up to 13 nucleotides long. After mismatch binding, MutS alpha or beta forms a ternary complex with the MutL alpha heterodimer, which is thought to be responsible for directing the downstream MMR events, including strand discrimination, excision, and resynthesis. Recruits DNA helicase MCM9 to chromatin which unwinds the mismatch containing DNA strand (PubMed:26300262). ATP binding and hydrolysis play a pivotal role in mismatch repair functions. The ATPase activity associated with MutS alpha regulates binding similar to a molecular switch: mismatched DNA provokes ADP-->ATP exchange, resulting in a discernible conformational transition that converts MutS alpha into a sliding clamp capable of hydrolysis-independent diffusion along the DNA backbone. This transition is crucial for mismatch repair. MutS alpha may also play a role in DNA homologous recombination repair. In melanocytes may modulate both UV-B-induced cell cycle regulation and apoptosis. {ECO:0000269|PubMed:10078208, ECO:0000269|PubMed:10660545, ECO:0000269|PubMed:15064730, ECO:0000269|PubMed:17611581, ECO:0000269|PubMed:21120944, ECO:0000269|PubMed:26300262, ECO:0000269|PubMed:9564049, ECO:0000269|PubMed:9822679, ECO:0000269|PubMed:9822680}. | 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. |
| 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. |
| - 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 |
| - 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 | MSH2 | chr2:47637511 | chr2:44539724 | ENST00000233146 | + | 3 | 16 | 669_676 | 215.0 | 935.0 | Nucleotide binding | ATP |
| Hgene | MSH2 | chr2:47637511 | chr2:44539724 | ENST00000543555 | + | 4 | 17 | 669_676 | 149.0 | 869.0 | Nucleotide binding | ATP |
| Hgene | MSH2 | chr2:47637511 | chr2:44539725 | ENST00000233146 | + | 3 | 16 | 669_676 | 215.0 | 935.0 | Nucleotide binding | ATP |
| Hgene | MSH2 | chr2:47637511 | chr2:44539725 | ENST00000543555 | + | 4 | 17 | 669_676 | 149.0 | 869.0 | Nucleotide binding | ATP |
| Tgene | SLC3A1 | chr2:47637511 | chr2:44539724 | ENST00000260649 | 6 | 10 | 109_685 | 444.0 | 686.0 | Topological domain | Extracellular | |
| Tgene | SLC3A1 | chr2:47637511 | chr2:44539724 | ENST00000260649 | 6 | 10 | 1_87 | 444.0 | 686.0 | Topological domain | Cytoplasmic | |
| Tgene | SLC3A1 | chr2:47637511 | chr2:44539725 | ENST00000260649 | 6 | 10 | 109_685 | 444.0 | 686.0 | Topological domain | Extracellular | |
| Tgene | SLC3A1 | chr2:47637511 | chr2:44539725 | ENST00000260649 | 6 | 10 | 1_87 | 444.0 | 686.0 | Topological domain | Cytoplasmic | |
| Tgene | SLC3A1 | chr2:47637511 | chr2:44539724 | ENST00000260649 | 6 | 10 | 88_108 | 444.0 | 686.0 | Transmembrane | Helical%3B Signal-anchor for type II membrane protein | |
| Tgene | SLC3A1 | chr2:47637511 | chr2:44539725 | ENST00000260649 | 6 | 10 | 88_108 | 444.0 | 686.0 | Transmembrane | Helical%3B Signal-anchor for type II membrane protein |
Top |
Fusion Protein-Protein Interaction |
| 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 from validated records (BIOGRID-3.4.160) |
| Gene | PPI interactors |
| Protein-protein interactors based on sequence similarity (STRING) |
| Gene | STRING network |
| MSH2 | |
| SLC3A1 |
| - Retained interactions in fusion protein (protein functional feature from UniProt). |
| Partner | Gene | Hbp | Tbp | ENST | Strand | BPexon | TotalExon | Protein feature loci | *BPloci | TotalLen | Still interaction with |
| - Lost interactions due to fusion (protein functional feature from UniProt). |
| Partner | Gene | Hbp | Tbp | ENST | Strand | BPexon | TotalExon | Protein feature loci | *BPloci | TotalLen | Interaction lost with |
| Hgene | MSH2 | chr2:47637511 | chr2:44539724 | ENST00000233146 | + | 3 | 16 | 601_671 | 215.0 | 935.0 | EXO1 |
| Hgene | MSH2 | chr2:47637511 | chr2:44539724 | ENST00000543555 | + | 4 | 17 | 601_671 | 149.0 | 869.0 | EXO1 |
| Hgene | MSH2 | chr2:47637511 | chr2:44539725 | ENST00000233146 | + | 3 | 16 | 601_671 | 215.0 | 935.0 | EXO1 |
| Hgene | MSH2 | chr2:47637511 | chr2:44539725 | ENST00000543555 | + | 4 | 17 | 601_671 | 149.0 | 869.0 | EXO1 |
Top |
Related Drugs to MSH2-SLC3A1 |
| Drugs used for this fusion-positive patient. (Manual curation of PubMed, 04-30-2022 + MyCancerGenome) |
| Hgene | Tgene | Drug | Source | PMID |
Top |
Related Diseases to MSH2-SLC3A1 |
| Diseases that have this fusion gene. (Manual curation of PubMed, 04-30-2022 + MyCancerGenome) |
| Hgene | Tgene | Disease | Source | PMID |
| Diseases associated with fusion partners. (DisGeNet 4.0) |
| Partner | Gene | Disease ID | Disease name | # pubmeds | Source |
Copyright 2021-Present -The University of Texas Health Science Center at Houston (UTHealth)
Web File Viewing | Emergency Information |Campus Carry|Site Policies