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Fusion Protein:NIN-CASP10 |
Fusion Protein Summary |
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Fusion partner gene information | Fusion gene name: NIN-CASP10 | FusionPDB ID: 59143 | FusionGDB2.0 ID: 59143 | Hgene | Tgene | Gene symbol | NIN | CASP10 | Gene ID | 51199 | 843 |
Gene name | ninein | caspase 10 | |
Synonyms | SCKL7 | ALPS2|FLICE2|MCH4 | |
Cytomap | 14q22.1 | 2q33.1 | |
Type of gene | protein-coding | protein-coding | |
Description | nineinglycogen synthase kinase 3 beta-interacting proteinhNineinninein (GSK3B interacting protein)ninein centrosomal protein | caspase-10CASP-10FADD-like ICE2FAS-associated death domain protein interleukin-1B-converting enzyme 2ICE-like apoptotic protease 4apoptotic protease MCH-4caspase 10 apoptosis-related cysteine peptidasecaspase 10, apoptosis-related cysteine protease | |
Modification date | 20200328 | 20200313 | |
UniProtAcc | Q9Y2I6 | Q92851 | |
Ensembl transtripts involved in fusion gene | ENST ids | ENST00000245441, ENST00000324330, ENST00000382041, ENST00000382043, ENST00000389868, ENST00000453196, ENST00000530997, ENST00000486200, | ENST00000492363, ENST00000313728, ENST00000346817, ENST00000374650, ENST00000448480, ENST00000360132, ENST00000272879, ENST00000286186, |
Fusion gene scores for assessment (based on all fusion genes of FusionGDB 2.0) | * DoF score | 16 X 18 X 9=2592 | 5 X 3 X 3=45 |
# samples | 20 | 4 | |
** MAII score | log2(20/2592*10)=-3.6959938131099 possibly effective Gene in Pan-Cancer Fusion Genes (peGinPCFGs). DoF>8 and MAII<0 | log2(4/45*10)=-0.169925001442312 possibly effective Gene in Pan-Cancer Fusion Genes (peGinPCFGs). DoF>8 and MAII<0 | |
Context (manual curation of fusion genes in FusionPDB) | PubMed: NIN [Title/Abstract] AND CASP10 [Title/Abstract] AND fusion [Title/Abstract] | ||
Most frequent breakpoint (based on all fusion genes of FusionGDB 2.0) | NIN(51239019)-CASP10(202072798), # samples:1 | ||
Anticipated loss of major functional domain due to fusion event. | NIN-CASP10 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. NIN-CASP10 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. NIN-CASP10 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. NIN-CASP10 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. NIN-CASP10 seems lost the major protein functional domain in Hgene partner, which is a CGC due to the frame-shifted ORF. NIN-CASP10 seems lost the major protein functional domain in Hgene partner, which is a essential gene due to the frame-shifted ORF. NIN-CASP10 seems lost the major protein functional domain in Tgene partner, which is a IUPHAR drug target 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 |
![]() * 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 | STAD | TCGA-BR-8078-01A | NIN | chr14 | 51239019 | - | CASP10 | chr2 | 202072798 | + |
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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) |
ENST00000245441 | NIN | chr14 | 51239019 | - | ENST00000286186 | CASP10 | chr2 | 202072798 | + | 5852 | 1172 | 131 | 1927 | 598 |
ENST00000245441 | NIN | chr14 | 51239019 | - | ENST00000272879 | CASP10 | chr2 | 202072798 | + | 2248 | 1172 | 131 | 1924 | 597 |
ENST00000389868 | NIN | chr14 | 51239019 | - | ENST00000286186 | CASP10 | chr2 | 202072798 | + | 5852 | 1172 | 131 | 1927 | 598 |
ENST00000389868 | NIN | chr14 | 51239019 | - | ENST00000272879 | CASP10 | chr2 | 202072798 | + | 2248 | 1172 | 131 | 1924 | 597 |
ENST00000530997 | NIN | chr14 | 51239019 | - | ENST00000286186 | CASP10 | chr2 | 202072798 | + | 5661 | 981 | 0 | 1736 | 578 |
ENST00000530997 | NIN | chr14 | 51239019 | - | ENST00000272879 | CASP10 | chr2 | 202072798 | + | 2057 | 981 | 0 | 1733 | 577 |
ENST00000382041 | NIN | chr14 | 51239019 | - | ENST00000286186 | CASP10 | chr2 | 202072798 | + | 5852 | 1172 | 131 | 1927 | 598 |
ENST00000382041 | NIN | chr14 | 51239019 | - | ENST00000272879 | CASP10 | chr2 | 202072798 | + | 2248 | 1172 | 131 | 1924 | 597 |
ENST00000324330 | NIN | chr14 | 51239019 | - | ENST00000286186 | CASP10 | chr2 | 202072798 | + | 5852 | 1172 | 131 | 1927 | 598 |
ENST00000324330 | NIN | chr14 | 51239019 | - | ENST00000272879 | CASP10 | chr2 | 202072798 | + | 2248 | 1172 | 131 | 1924 | 597 |
ENST00000453196 | NIN | chr14 | 51239019 | - | ENST00000286186 | CASP10 | chr2 | 202072798 | + | 5852 | 1172 | 131 | 1927 | 598 |
ENST00000453196 | NIN | chr14 | 51239019 | - | ENST00000272879 | CASP10 | chr2 | 202072798 | + | 2248 | 1172 | 131 | 1924 | 597 |
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Henst | Tenst | Hgene | Hchr | Hbp | Hstrand | Tgene | Tchr | Tbp | Tstrand | No-coding score | Coding score |
ENST00000245441 | ENST00000286186 | NIN | chr14 | 51239019 | - | CASP10 | chr2 | 202072798 | + | 0.000568474 | 0.99943155 |
ENST00000245441 | ENST00000272879 | NIN | chr14 | 51239019 | - | CASP10 | chr2 | 202072798 | + | 0.002185273 | 0.99781466 |
ENST00000389868 | ENST00000286186 | NIN | chr14 | 51239019 | - | CASP10 | chr2 | 202072798 | + | 0.000568474 | 0.99943155 |
ENST00000389868 | ENST00000272879 | NIN | chr14 | 51239019 | - | CASP10 | chr2 | 202072798 | + | 0.002185273 | 0.99781466 |
ENST00000530997 | ENST00000286186 | NIN | chr14 | 51239019 | - | CASP10 | chr2 | 202072798 | + | 0.000478867 | 0.99952114 |
ENST00000530997 | ENST00000272879 | NIN | chr14 | 51239019 | - | CASP10 | chr2 | 202072798 | + | 0.001568189 | 0.99843174 |
ENST00000382041 | ENST00000286186 | NIN | chr14 | 51239019 | - | CASP10 | chr2 | 202072798 | + | 0.000568474 | 0.99943155 |
ENST00000382041 | ENST00000272879 | NIN | chr14 | 51239019 | - | CASP10 | chr2 | 202072798 | + | 0.002185273 | 0.99781466 |
ENST00000324330 | ENST00000286186 | NIN | chr14 | 51239019 | - | CASP10 | chr2 | 202072798 | + | 0.000568474 | 0.99943155 |
ENST00000324330 | ENST00000272879 | NIN | chr14 | 51239019 | - | CASP10 | chr2 | 202072798 | + | 0.002185273 | 0.99781466 |
ENST00000453196 | ENST00000286186 | NIN | chr14 | 51239019 | - | CASP10 | chr2 | 202072798 | + | 0.000568474 | 0.99943155 |
ENST00000453196 | ENST00000272879 | NIN | chr14 | 51239019 | - | CASP10 | chr2 | 202072798 | + | 0.002185273 | 0.99781466 |
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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 >59143_59143_1_NIN-CASP10_NIN_chr14_51239019_ENST00000245441_CASP10_chr2_202072798_ENST00000272879_length(amino acids)=597AA_BP=341 MPAVRALRRDRQKVSTVGYGMDEVEQDQHEARLKELFDSFDTTGTGSLGQEELTDLCHMLSLEEVAPVLQQTLLQDNLLGRVHFDQFKEA LILILSRTLSNEEHFQEPDCSLEAQPKYVRGGKRYGRRSLPEFQESVEEFPEVTVIEPLDEEARPSHIPAGDCSEHWKTQRSEEYEAEGQ LRFWNPDDLNASQSGSSPPQDWIEEKLQEVCEDLGITRDGHLNRKKLVSICEQYGLQNVDGEMLEEVFHNLDPDGTMSVEDFFYGLFKNG KSLTPSASTPYRQLKRHLSMQSFDESGRRTTTSSAMTSTIGFRVFSCLDDGMGHASVERILDTWQEEGIENSQEILKRAAVYRMNRNHRG LCVIVNNHSFTSLKDRQGTHKDAEILSHVFQWLGFTVHIHNNVTKVEMEMVLQKQKCNPAHADGDCFVFCILTHGRFGAVYSSDEALIPI REIMSHFTALQCPRLAEKPKLFFIQACQGEEIQPSVSIEADALNPEQAPTSLQDSIPAEADFLLGLATVPGYVSFRHVEEGSWYIQSLCN -------------------------------------------------------------- >59143_59143_2_NIN-CASP10_NIN_chr14_51239019_ENST00000245441_CASP10_chr2_202072798_ENST00000286186_length(amino acids)=598AA_BP=341 MPAVRALRRDRQKVSTVGYGMDEVEQDQHEARLKELFDSFDTTGTGSLGQEELTDLCHMLSLEEVAPVLQQTLLQDNLLGRVHFDQFKEA LILILSRTLSNEEHFQEPDCSLEAQPKYVRGGKRYGRRSLPEFQESVEEFPEVTVIEPLDEEARPSHIPAGDCSEHWKTQRSEEYEAEGQ LRFWNPDDLNASQSGSSPPQDWIEEKLQEVCEDLGITRDGHLNRKKLVSICEQYGLQNVDGEMLEEVFHNLDPDGTMSVEDFFYGLFKNG KSLTPSASTPYRQLKRHLSMQSFDESGRRTTTSSAMTSTIGFRVFSCLDDGMGHASVERILDTWQEEGIENSQEILKRAAVYRMNRNHRG LCVIVNNHSFTSLKDRQGTHKDAEILSHVFQWLGFTVHIHNNVTKVEMEMVLQKQKCNPAHADGDCFVFCILTHGRFGAVYSSDEALIPI REIMSHFTALQCPRLAEKPKLFFIQACQGEEIQPSVSIEADALNPEQAPTSLQDSIPAEADFLLGLATVPGYVSFRHVEEGSWYIQSLCN -------------------------------------------------------------- >59143_59143_3_NIN-CASP10_NIN_chr14_51239019_ENST00000324330_CASP10_chr2_202072798_ENST00000272879_length(amino acids)=597AA_BP=341 MPAVRALRRDRQKVSTVGYGMDEVEQDQHEARLKELFDSFDTTGTGSLGQEELTDLCHMLSLEEVAPVLQQTLLQDNLLGRVHFDQFKEA LILILSRTLSNEEHFQEPDCSLEAQPKYVRGGKRYGRRSLPEFQESVEEFPEVTVIEPLDEEARPSHIPAGDCSEHWKTQRSEEYEAEGQ LRFWNPDDLNASQSGSSPPQDWIEEKLQEVCEDLGITRDGHLNRKKLVSICEQYGLQNVDGEMLEEVFHNLDPDGTMSVEDFFYGLFKNG KSLTPSASTPYRQLKRHLSMQSFDESGRRTTTSSAMTSTIGFRVFSCLDDGMGHASVERILDTWQEEGIENSQEILKRAAVYRMNRNHRG LCVIVNNHSFTSLKDRQGTHKDAEILSHVFQWLGFTVHIHNNVTKVEMEMVLQKQKCNPAHADGDCFVFCILTHGRFGAVYSSDEALIPI REIMSHFTALQCPRLAEKPKLFFIQACQGEEIQPSVSIEADALNPEQAPTSLQDSIPAEADFLLGLATVPGYVSFRHVEEGSWYIQSLCN -------------------------------------------------------------- >59143_59143_4_NIN-CASP10_NIN_chr14_51239019_ENST00000324330_CASP10_chr2_202072798_ENST00000286186_length(amino acids)=598AA_BP=341 MPAVRALRRDRQKVSTVGYGMDEVEQDQHEARLKELFDSFDTTGTGSLGQEELTDLCHMLSLEEVAPVLQQTLLQDNLLGRVHFDQFKEA LILILSRTLSNEEHFQEPDCSLEAQPKYVRGGKRYGRRSLPEFQESVEEFPEVTVIEPLDEEARPSHIPAGDCSEHWKTQRSEEYEAEGQ LRFWNPDDLNASQSGSSPPQDWIEEKLQEVCEDLGITRDGHLNRKKLVSICEQYGLQNVDGEMLEEVFHNLDPDGTMSVEDFFYGLFKNG KSLTPSASTPYRQLKRHLSMQSFDESGRRTTTSSAMTSTIGFRVFSCLDDGMGHASVERILDTWQEEGIENSQEILKRAAVYRMNRNHRG LCVIVNNHSFTSLKDRQGTHKDAEILSHVFQWLGFTVHIHNNVTKVEMEMVLQKQKCNPAHADGDCFVFCILTHGRFGAVYSSDEALIPI REIMSHFTALQCPRLAEKPKLFFIQACQGEEIQPSVSIEADALNPEQAPTSLQDSIPAEADFLLGLATVPGYVSFRHVEEGSWYIQSLCN -------------------------------------------------------------- >59143_59143_5_NIN-CASP10_NIN_chr14_51239019_ENST00000382041_CASP10_chr2_202072798_ENST00000272879_length(amino acids)=597AA_BP=341 MPAVRALRRDRQKVSTVGYGMDEVEQDQHEARLKELFDSFDTTGTGSLGQEELTDLCHMLSLEEVAPVLQQTLLQDNLLGRVHFDQFKEA LILILSRTLSNEEHFQEPDCSLEAQPKYVRGGKRYGRRSLPEFQESVEEFPEVTVIEPLDEEARPSHIPAGDCSEHWKTQRSEEYEAEGQ LRFWNPDDLNASQSGSSPPQDWIEEKLQEVCEDLGITRDGHLNRKKLVSICEQYGLQNVDGEMLEEVFHNLDPDGTMSVEDFFYGLFKNG KSLTPSASTPYRQLKRHLSMQSFDESGRRTTTSSAMTSTIGFRVFSCLDDGMGHASVERILDTWQEEGIENSQEILKRAAVYRMNRNHRG LCVIVNNHSFTSLKDRQGTHKDAEILSHVFQWLGFTVHIHNNVTKVEMEMVLQKQKCNPAHADGDCFVFCILTHGRFGAVYSSDEALIPI REIMSHFTALQCPRLAEKPKLFFIQACQGEEIQPSVSIEADALNPEQAPTSLQDSIPAEADFLLGLATVPGYVSFRHVEEGSWYIQSLCN -------------------------------------------------------------- >59143_59143_6_NIN-CASP10_NIN_chr14_51239019_ENST00000382041_CASP10_chr2_202072798_ENST00000286186_length(amino acids)=598AA_BP=341 MPAVRALRRDRQKVSTVGYGMDEVEQDQHEARLKELFDSFDTTGTGSLGQEELTDLCHMLSLEEVAPVLQQTLLQDNLLGRVHFDQFKEA LILILSRTLSNEEHFQEPDCSLEAQPKYVRGGKRYGRRSLPEFQESVEEFPEVTVIEPLDEEARPSHIPAGDCSEHWKTQRSEEYEAEGQ LRFWNPDDLNASQSGSSPPQDWIEEKLQEVCEDLGITRDGHLNRKKLVSICEQYGLQNVDGEMLEEVFHNLDPDGTMSVEDFFYGLFKNG KSLTPSASTPYRQLKRHLSMQSFDESGRRTTTSSAMTSTIGFRVFSCLDDGMGHASVERILDTWQEEGIENSQEILKRAAVYRMNRNHRG LCVIVNNHSFTSLKDRQGTHKDAEILSHVFQWLGFTVHIHNNVTKVEMEMVLQKQKCNPAHADGDCFVFCILTHGRFGAVYSSDEALIPI REIMSHFTALQCPRLAEKPKLFFIQACQGEEIQPSVSIEADALNPEQAPTSLQDSIPAEADFLLGLATVPGYVSFRHVEEGSWYIQSLCN -------------------------------------------------------------- >59143_59143_7_NIN-CASP10_NIN_chr14_51239019_ENST00000389868_CASP10_chr2_202072798_ENST00000272879_length(amino acids)=597AA_BP=341 MPAVRALRRDRQKVSTVGYGMDEVEQDQHEARLKELFDSFDTTGTGSLGQEELTDLCHMLSLEEVAPVLQQTLLQDNLLGRVHFDQFKEA LILILSRTLSNEEHFQEPDCSLEAQPKYVRGGKRYGRRSLPEFQESVEEFPEVTVIEPLDEEARPSHIPAGDCSEHWKTQRSEEYEAEGQ LRFWNPDDLNASQSGSSPPQDWIEEKLQEVCEDLGITRDGHLNRKKLVSICEQYGLQNVDGEMLEEVFHNLDPDGTMSVEDFFYGLFKNG KSLTPSASTPYRQLKRHLSMQSFDESGRRTTTSSAMTSTIGFRVFSCLDDGMGHASVERILDTWQEEGIENSQEILKRAAVYRMNRNHRG LCVIVNNHSFTSLKDRQGTHKDAEILSHVFQWLGFTVHIHNNVTKVEMEMVLQKQKCNPAHADGDCFVFCILTHGRFGAVYSSDEALIPI REIMSHFTALQCPRLAEKPKLFFIQACQGEEIQPSVSIEADALNPEQAPTSLQDSIPAEADFLLGLATVPGYVSFRHVEEGSWYIQSLCN -------------------------------------------------------------- >59143_59143_8_NIN-CASP10_NIN_chr14_51239019_ENST00000389868_CASP10_chr2_202072798_ENST00000286186_length(amino acids)=598AA_BP=341 MPAVRALRRDRQKVSTVGYGMDEVEQDQHEARLKELFDSFDTTGTGSLGQEELTDLCHMLSLEEVAPVLQQTLLQDNLLGRVHFDQFKEA LILILSRTLSNEEHFQEPDCSLEAQPKYVRGGKRYGRRSLPEFQESVEEFPEVTVIEPLDEEARPSHIPAGDCSEHWKTQRSEEYEAEGQ LRFWNPDDLNASQSGSSPPQDWIEEKLQEVCEDLGITRDGHLNRKKLVSICEQYGLQNVDGEMLEEVFHNLDPDGTMSVEDFFYGLFKNG KSLTPSASTPYRQLKRHLSMQSFDESGRRTTTSSAMTSTIGFRVFSCLDDGMGHASVERILDTWQEEGIENSQEILKRAAVYRMNRNHRG LCVIVNNHSFTSLKDRQGTHKDAEILSHVFQWLGFTVHIHNNVTKVEMEMVLQKQKCNPAHADGDCFVFCILTHGRFGAVYSSDEALIPI REIMSHFTALQCPRLAEKPKLFFIQACQGEEIQPSVSIEADALNPEQAPTSLQDSIPAEADFLLGLATVPGYVSFRHVEEGSWYIQSLCN -------------------------------------------------------------- >59143_59143_9_NIN-CASP10_NIN_chr14_51239019_ENST00000453196_CASP10_chr2_202072798_ENST00000272879_length(amino acids)=597AA_BP=341 MPAVRALRRDRQKVSTVGYGMDEVEQDQHEARLKELFDSFDTTGTGSLGQEELTDLCHMLSLEEVAPVLQQTLLQDNLLGRVHFDQFKEA LILILSRTLSNEEHFQEPDCSLEAQPKYVRGGKRYGRRSLPEFQESVEEFPEVTVIEPLDEEARPSHIPAGDCSEHWKTQRSEEYEAEGQ LRFWNPDDLNASQSGSSPPQDWIEEKLQEVCEDLGITRDGHLNRKKLVSICEQYGLQNVDGEMLEEVFHNLDPDGTMSVEDFFYGLFKNG KSLTPSASTPYRQLKRHLSMQSFDESGRRTTTSSAMTSTIGFRVFSCLDDGMGHASVERILDTWQEEGIENSQEILKRAAVYRMNRNHRG LCVIVNNHSFTSLKDRQGTHKDAEILSHVFQWLGFTVHIHNNVTKVEMEMVLQKQKCNPAHADGDCFVFCILTHGRFGAVYSSDEALIPI REIMSHFTALQCPRLAEKPKLFFIQACQGEEIQPSVSIEADALNPEQAPTSLQDSIPAEADFLLGLATVPGYVSFRHVEEGSWYIQSLCN -------------------------------------------------------------- >59143_59143_10_NIN-CASP10_NIN_chr14_51239019_ENST00000453196_CASP10_chr2_202072798_ENST00000286186_length(amino acids)=598AA_BP=341 MPAVRALRRDRQKVSTVGYGMDEVEQDQHEARLKELFDSFDTTGTGSLGQEELTDLCHMLSLEEVAPVLQQTLLQDNLLGRVHFDQFKEA LILILSRTLSNEEHFQEPDCSLEAQPKYVRGGKRYGRRSLPEFQESVEEFPEVTVIEPLDEEARPSHIPAGDCSEHWKTQRSEEYEAEGQ LRFWNPDDLNASQSGSSPPQDWIEEKLQEVCEDLGITRDGHLNRKKLVSICEQYGLQNVDGEMLEEVFHNLDPDGTMSVEDFFYGLFKNG KSLTPSASTPYRQLKRHLSMQSFDESGRRTTTSSAMTSTIGFRVFSCLDDGMGHASVERILDTWQEEGIENSQEILKRAAVYRMNRNHRG LCVIVNNHSFTSLKDRQGTHKDAEILSHVFQWLGFTVHIHNNVTKVEMEMVLQKQKCNPAHADGDCFVFCILTHGRFGAVYSSDEALIPI REIMSHFTALQCPRLAEKPKLFFIQACQGEEIQPSVSIEADALNPEQAPTSLQDSIPAEADFLLGLATVPGYVSFRHVEEGSWYIQSLCN -------------------------------------------------------------- >59143_59143_11_NIN-CASP10_NIN_chr14_51239019_ENST00000530997_CASP10_chr2_202072798_ENST00000272879_length(amino acids)=577AA_BP=321 MDEVEQDQHEARLKELFDSFDTTGTGSLGQEELTDLCHMLSLEEVAPVLQQTLLQDNLLGRVHFDQFKEALILILSRTLSNEEHFQEPDC SLEAQPKYVRGGKRYGRRSLPEFQESVEEFPEVTVIEPLDEEARPSHIPAGDCSEHWKTQRSEEYEAEGQLRFWNPDDLNASQSGSSPPQ DWIEEKLQEVCEDLGITRDGHLNRKKLVSICEQYGLQNVDGEMLEEVFHNLDPDGTMSVEDFFYGLFKNGKSLTPSASTPYRQLKRHLSM QSFDESGRRTTTSSAMTSTIGFRVFSCLDDGMGHASVERILDTWQEEGIENSQEILKRAAVYRMNRNHRGLCVIVNNHSFTSLKDRQGTH KDAEILSHVFQWLGFTVHIHNNVTKVEMEMVLQKQKCNPAHADGDCFVFCILTHGRFGAVYSSDEALIPIREIMSHFTALQCPRLAEKPK LFFIQACQGEEIQPSVSIEADALNPEQAPTSLQDSIPAEADFLLGLATVPGYVSFRHVEEGSWYIQSLCNHLKKLVPRMLKFLEKTMEIR -------------------------------------------------------------- >59143_59143_12_NIN-CASP10_NIN_chr14_51239019_ENST00000530997_CASP10_chr2_202072798_ENST00000286186_length(amino acids)=578AA_BP=321 MDEVEQDQHEARLKELFDSFDTTGTGSLGQEELTDLCHMLSLEEVAPVLQQTLLQDNLLGRVHFDQFKEALILILSRTLSNEEHFQEPDC SLEAQPKYVRGGKRYGRRSLPEFQESVEEFPEVTVIEPLDEEARPSHIPAGDCSEHWKTQRSEEYEAEGQLRFWNPDDLNASQSGSSPPQ DWIEEKLQEVCEDLGITRDGHLNRKKLVSICEQYGLQNVDGEMLEEVFHNLDPDGTMSVEDFFYGLFKNGKSLTPSASTPYRQLKRHLSM QSFDESGRRTTTSSAMTSTIGFRVFSCLDDGMGHASVERILDTWQEEGIENSQEILKRAAVYRMNRNHRGLCVIVNNHSFTSLKDRQGTH KDAEILSHVFQWLGFTVHIHNNVTKVEMEMVLQKQKCNPAHADGDCFVFCILTHGRFGAVYSSDEALIPIREIMSHFTALQCPRLAEKPK LFFIQACQGEEIQPSVSIEADALNPEQAPTSLQDSIPAEADFLLGLATVPGYVSFRHVEEGSWYIQSLCNHLKKLVPRHEDILSILTAVN -------------------------------------------------------------- |
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Fusion Protein Functional Features |
![]() Go to FGviewer search page for the most frequent breakpoint (https://ccsmweb.uth.edu/FGviewer/chr14:51239019/chr2:202072798) - 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 |
NIN | CASP10 |
FUNCTION: Involved in the microtubule organization in interphase cells. Overexpression induces the fragmentation of the Golgi, and causes lysosomes to disperse toward the cell periphery; it also interferes with mitotic spindle assembly. May play a role in ovarian carcinogenesis. {ECO:0000269|PubMed:12852856, ECO:0000269|PubMed:16254247, ECO:0000269|PubMed:18538832}. | FUNCTION: Involved in the activation cascade of caspases responsible for apoptosis execution. Recruited to both Fas- and TNFR-1 receptors in a FADD dependent manner. May participate in the granzyme B apoptotic pathways. Cleaves and activates caspase-3, -4, -6, -7, -8, and -9. Hydrolyzes the small- molecule substrates, Tyr-Val-Ala-Asp-|-AMC and Asp-Glu-Val-Asp-|-AMC. {ECO:0000269|PubMed:11717445}.; FUNCTION: Isoform 7 can enhance NF-kappaB activity but promotes only slight apoptosis. {ECO:0000269|PubMed:17822854}.; FUNCTION: Isoform C is proteolytically inactive. {ECO:0000269|PubMed:11717445}. |
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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 | NIN | chr14:51239019 | chr2:202072798 | ENST00000245441 | - | 9 | 31 | 182_217 | 327.0 | 2134.0 | Domain | EF-hand 3 |
Hgene | NIN | chr14:51239019 | chr2:202072798 | ENST00000245441 | - | 9 | 31 | 219_252 | 327.0 | 2134.0 | Domain | EF-hand 4 |
Hgene | NIN | chr14:51239019 | chr2:202072798 | ENST00000245441 | - | 9 | 31 | 42_77 | 327.0 | 2134.0 | Domain | EF-hand 2 |
Hgene | NIN | chr14:51239019 | chr2:202072798 | ENST00000245441 | - | 9 | 31 | 8_43 | 327.0 | 2134.0 | Domain | EF-hand 1 |
Hgene | NIN | chr14:51239019 | chr2:202072798 | ENST00000382041 | - | 9 | 30 | 182_217 | 327.0 | 2091.0 | Domain | EF-hand 3 |
Hgene | NIN | chr14:51239019 | chr2:202072798 | ENST00000382041 | - | 9 | 30 | 219_252 | 327.0 | 2091.0 | Domain | EF-hand 4 |
Hgene | NIN | chr14:51239019 | chr2:202072798 | ENST00000382041 | - | 9 | 30 | 42_77 | 327.0 | 2091.0 | Domain | EF-hand 2 |
Hgene | NIN | chr14:51239019 | chr2:202072798 | ENST00000382041 | - | 9 | 30 | 8_43 | 327.0 | 2091.0 | Domain | EF-hand 1 |
Hgene | NIN | chr14:51239019 | chr2:202072798 | ENST00000382043 | - | 8 | 28 | 182_217 | 327.0 | 1378.0 | Domain | EF-hand 3 |
Hgene | NIN | chr14:51239019 | chr2:202072798 | ENST00000382043 | - | 8 | 28 | 219_252 | 327.0 | 1378.0 | Domain | EF-hand 4 |
Hgene | NIN | chr14:51239019 | chr2:202072798 | ENST00000382043 | - | 8 | 28 | 42_77 | 327.0 | 1378.0 | Domain | EF-hand 2 |
Hgene | NIN | chr14:51239019 | chr2:202072798 | ENST00000382043 | - | 8 | 28 | 8_43 | 327.0 | 1378.0 | Domain | EF-hand 1 |
Hgene | NIN | chr14:51239019 | chr2:202072798 | ENST00000530997 | - | 7 | 29 | 182_217 | 327.0 | 2134.0 | Domain | EF-hand 3 |
Hgene | NIN | chr14:51239019 | chr2:202072798 | ENST00000530997 | - | 7 | 29 | 219_252 | 327.0 | 2134.0 | Domain | EF-hand 4 |
Hgene | NIN | chr14:51239019 | chr2:202072798 | ENST00000530997 | - | 7 | 29 | 42_77 | 327.0 | 2134.0 | Domain | EF-hand 2 |
Hgene | NIN | chr14:51239019 | chr2:202072798 | ENST00000530997 | - | 7 | 29 | 8_43 | 327.0 | 2134.0 | Domain | EF-hand 1 |
Hgene | NIN | chr14:51239019 | chr2:202072798 | ENST00000245441 | - | 9 | 31 | 245_252 | 327.0 | 2134.0 | Nucleotide binding | GTP |
Hgene | NIN | chr14:51239019 | chr2:202072798 | ENST00000245441 | - | 9 | 31 | 300_304 | 327.0 | 2134.0 | Nucleotide binding | GTP |
Hgene | NIN | chr14:51239019 | chr2:202072798 | ENST00000382041 | - | 9 | 30 | 245_252 | 327.0 | 2091.0 | Nucleotide binding | GTP |
Hgene | NIN | chr14:51239019 | chr2:202072798 | ENST00000382041 | - | 9 | 30 | 300_304 | 327.0 | 2091.0 | Nucleotide binding | GTP |
Hgene | NIN | chr14:51239019 | chr2:202072798 | ENST00000382043 | - | 8 | 28 | 245_252 | 327.0 | 1378.0 | Nucleotide binding | GTP |
Hgene | NIN | chr14:51239019 | chr2:202072798 | ENST00000382043 | - | 8 | 28 | 300_304 | 327.0 | 1378.0 | Nucleotide binding | GTP |
Hgene | NIN | chr14:51239019 | chr2:202072798 | ENST00000530997 | - | 7 | 29 | 245_252 | 327.0 | 2134.0 | Nucleotide binding | GTP |
Hgene | NIN | chr14:51239019 | chr2:202072798 | ENST00000530997 | - | 7 | 29 | 300_304 | 327.0 | 2134.0 | Nucleotide binding | GTP |
Tgene | CASP10 | chr14:51239019 | chr2:202072798 | ENST00000313728 | 0 | 8 | 114_187 | 0 | 456.0 | Domain | DED 2 | |
Tgene | CASP10 | chr14:51239019 | chr2:202072798 | ENST00000313728 | 0 | 8 | 19_97 | 0 | 456.0 | Domain | DED 1 | |
Tgene | CASP10 | chr14:51239019 | chr2:202072798 | ENST00000374650 | 0 | 6 | 114_187 | 0 | 248.0 | Domain | DED 2 | |
Tgene | CASP10 | chr14:51239019 | chr2:202072798 | ENST00000374650 | 0 | 6 | 19_97 | 0 | 248.0 | Domain | DED 1 |
- 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 | NIN | chr14:51239019 | chr2:202072798 | ENST00000245441 | - | 9 | 31 | 1068_1099 | 327.0 | 2134.0 | Coiled coil | Ontology_term=ECO:0000255 |
Hgene | NIN | chr14:51239019 | chr2:202072798 | ENST00000245441 | - | 9 | 31 | 1181_1341 | 327.0 | 2134.0 | Coiled coil | Ontology_term=ECO:0000255 |
Hgene | NIN | chr14:51239019 | chr2:202072798 | ENST00000245441 | - | 9 | 31 | 1441_1816 | 327.0 | 2134.0 | Coiled coil | Ontology_term=ECO:0000255 |
Hgene | NIN | chr14:51239019 | chr2:202072798 | ENST00000245441 | - | 9 | 31 | 1854_1885 | 327.0 | 2134.0 | Coiled coil | Ontology_term=ECO:0000255 |
Hgene | NIN | chr14:51239019 | chr2:202072798 | ENST00000245441 | - | 9 | 31 | 1922_2067 | 327.0 | 2134.0 | Coiled coil | Ontology_term=ECO:0000255 |
Hgene | NIN | chr14:51239019 | chr2:202072798 | ENST00000245441 | - | 9 | 31 | 357_570 | 327.0 | 2134.0 | Coiled coil | Ontology_term=ECO:0000255 |
Hgene | NIN | chr14:51239019 | chr2:202072798 | ENST00000245441 | - | 9 | 31 | 625_1027 | 327.0 | 2134.0 | Coiled coil | Ontology_term=ECO:0000255 |
Hgene | NIN | chr14:51239019 | chr2:202072798 | ENST00000382041 | - | 9 | 30 | 1068_1099 | 327.0 | 2091.0 | Coiled coil | Ontology_term=ECO:0000255 |
Hgene | NIN | chr14:51239019 | chr2:202072798 | ENST00000382041 | - | 9 | 30 | 1181_1341 | 327.0 | 2091.0 | Coiled coil | Ontology_term=ECO:0000255 |
Hgene | NIN | chr14:51239019 | chr2:202072798 | ENST00000382041 | - | 9 | 30 | 1441_1816 | 327.0 | 2091.0 | Coiled coil | Ontology_term=ECO:0000255 |
Hgene | NIN | chr14:51239019 | chr2:202072798 | ENST00000382041 | - | 9 | 30 | 1854_1885 | 327.0 | 2091.0 | Coiled coil | Ontology_term=ECO:0000255 |
Hgene | NIN | chr14:51239019 | chr2:202072798 | ENST00000382041 | - | 9 | 30 | 1922_2067 | 327.0 | 2091.0 | Coiled coil | Ontology_term=ECO:0000255 |
Hgene | NIN | chr14:51239019 | chr2:202072798 | ENST00000382041 | - | 9 | 30 | 357_570 | 327.0 | 2091.0 | Coiled coil | Ontology_term=ECO:0000255 |
Hgene | NIN | chr14:51239019 | chr2:202072798 | ENST00000382041 | - | 9 | 30 | 625_1027 | 327.0 | 2091.0 | Coiled coil | Ontology_term=ECO:0000255 |
Hgene | NIN | chr14:51239019 | chr2:202072798 | ENST00000382043 | - | 8 | 28 | 1068_1099 | 327.0 | 1378.0 | Coiled coil | Ontology_term=ECO:0000255 |
Hgene | NIN | chr14:51239019 | chr2:202072798 | ENST00000382043 | - | 8 | 28 | 1181_1341 | 327.0 | 1378.0 | Coiled coil | Ontology_term=ECO:0000255 |
Hgene | NIN | chr14:51239019 | chr2:202072798 | ENST00000382043 | - | 8 | 28 | 1441_1816 | 327.0 | 1378.0 | Coiled coil | Ontology_term=ECO:0000255 |
Hgene | NIN | chr14:51239019 | chr2:202072798 | ENST00000382043 | - | 8 | 28 | 1854_1885 | 327.0 | 1378.0 | Coiled coil | Ontology_term=ECO:0000255 |
Hgene | NIN | chr14:51239019 | chr2:202072798 | ENST00000382043 | - | 8 | 28 | 1922_2067 | 327.0 | 1378.0 | Coiled coil | Ontology_term=ECO:0000255 |
Hgene | NIN | chr14:51239019 | chr2:202072798 | ENST00000382043 | - | 8 | 28 | 357_570 | 327.0 | 1378.0 | Coiled coil | Ontology_term=ECO:0000255 |
Hgene | NIN | chr14:51239019 | chr2:202072798 | ENST00000382043 | - | 8 | 28 | 625_1027 | 327.0 | 1378.0 | Coiled coil | Ontology_term=ECO:0000255 |
Hgene | NIN | chr14:51239019 | chr2:202072798 | ENST00000530997 | - | 7 | 29 | 1068_1099 | 327.0 | 2134.0 | Coiled coil | Ontology_term=ECO:0000255 |
Hgene | NIN | chr14:51239019 | chr2:202072798 | ENST00000530997 | - | 7 | 29 | 1181_1341 | 327.0 | 2134.0 | Coiled coil | Ontology_term=ECO:0000255 |
Hgene | NIN | chr14:51239019 | chr2:202072798 | ENST00000530997 | - | 7 | 29 | 1441_1816 | 327.0 | 2134.0 | Coiled coil | Ontology_term=ECO:0000255 |
Hgene | NIN | chr14:51239019 | chr2:202072798 | ENST00000530997 | - | 7 | 29 | 1854_1885 | 327.0 | 2134.0 | Coiled coil | Ontology_term=ECO:0000255 |
Hgene | NIN | chr14:51239019 | chr2:202072798 | ENST00000530997 | - | 7 | 29 | 1922_2067 | 327.0 | 2134.0 | Coiled coil | Ontology_term=ECO:0000255 |
Hgene | NIN | chr14:51239019 | chr2:202072798 | ENST00000530997 | - | 7 | 29 | 357_570 | 327.0 | 2134.0 | Coiled coil | Ontology_term=ECO:0000255 |
Hgene | NIN | chr14:51239019 | chr2:202072798 | ENST00000530997 | - | 7 | 29 | 625_1027 | 327.0 | 2134.0 | Coiled coil | Ontology_term=ECO:0000255 |
Hgene | NIN | chr14:51239019 | chr2:202072798 | ENST00000245441 | - | 9 | 31 | 317_352 | 327.0 | 2134.0 | Domain | EF-hand 5 |
Hgene | NIN | chr14:51239019 | chr2:202072798 | ENST00000382041 | - | 9 | 30 | 317_352 | 327.0 | 2091.0 | Domain | EF-hand 5 |
Hgene | NIN | chr14:51239019 | chr2:202072798 | ENST00000382043 | - | 8 | 28 | 317_352 | 327.0 | 1378.0 | Domain | EF-hand 5 |
Hgene | NIN | chr14:51239019 | chr2:202072798 | ENST00000530997 | - | 7 | 29 | 317_352 | 327.0 | 2134.0 | Domain | EF-hand 5 |
Hgene | NIN | chr14:51239019 | chr2:202072798 | ENST00000245441 | - | 9 | 31 | 420_423 | 327.0 | 2134.0 | Nucleotide binding | GTP |
Hgene | NIN | chr14:51239019 | chr2:202072798 | ENST00000382041 | - | 9 | 30 | 420_423 | 327.0 | 2091.0 | Nucleotide binding | GTP |
Hgene | NIN | chr14:51239019 | chr2:202072798 | ENST00000382043 | - | 8 | 28 | 420_423 | 327.0 | 1378.0 | Nucleotide binding | GTP |
Hgene | NIN | chr14:51239019 | chr2:202072798 | ENST00000530997 | - | 7 | 29 | 420_423 | 327.0 | 2134.0 | Nucleotide binding | GTP |
Tgene | CASP10 | chr14:51239019 | chr2:202072798 | ENST00000272879 | 6 | 10 | 114_187 | 271.0 | 522.0 | Domain | DED 2 | |
Tgene | CASP10 | chr14:51239019 | chr2:202072798 | ENST00000272879 | 6 | 10 | 19_97 | 271.0 | 522.0 | Domain | DED 1 | |
Tgene | CASP10 | chr14:51239019 | chr2:202072798 | ENST00000286186 | 6 | 10 | 114_187 | 271.0 | 523.0 | Domain | DED 2 | |
Tgene | CASP10 | chr14:51239019 | chr2:202072798 | ENST00000286186 | 6 | 10 | 19_97 | 271.0 | 523.0 | Domain | DED 1 | |
Tgene | CASP10 | chr14:51239019 | chr2:202072798 | ENST00000346817 | 4 | 8 | 114_187 | 228.0 | 480.0 | Domain | DED 2 | |
Tgene | CASP10 | chr14:51239019 | chr2:202072798 | ENST00000346817 | 4 | 8 | 19_97 | 228.0 | 480.0 | Domain | DED 1 | |
Tgene | CASP10 | chr14:51239019 | chr2:202072798 | ENST00000360132 | 5 | 9 | 114_187 | 240.33333333333334 | 1541.0 | Domain | DED 2 | |
Tgene | CASP10 | chr14:51239019 | chr2:202072798 | ENST00000360132 | 5 | 9 | 19_97 | 240.33333333333334 | 1541.0 | Domain | DED 1 | |
Tgene | CASP10 | chr14:51239019 | chr2:202072798 | ENST00000448480 | 4 | 8 | 114_187 | 228.0 | 479.0 | Domain | DED 2 | |
Tgene | CASP10 | chr14:51239019 | chr2:202072798 | ENST00000448480 | 4 | 8 | 19_97 | 228.0 | 479.0 | Domain | DED 1 |
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Fusion Protein-Protein Interaction |
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Gene | PPI interactors |
NIN | NIN, PRKACA, AURKA, GSK3B, AMOT, ELAVL1, LATS2, CEP170, CCDC68, TMOD1, CASQ2, C17orf59, CEP63, MED4, HERC2, OFD1, CEP128, CNTRL, ACTR1A, ANLN, AP3D1, CEP131, BAIAP2, CAMK2D, CC2D1A, CCDC138, CCNB1, CCNB2, CENPE, CEP164, CEP350, CKAP2, CLASP1, CLASP2, CSPP1, DBT, DCTN1, DCTN2, DHX35, DIAPH3, DYNC1H1, DYNC1I2, DYNC1LI1, DYNC1LI2, ECH1, EIF4ENIF1, ERC1, FAM83B, FGFR1OP, GPATCH1, HAUS1, HAUS3, HAUS4, HAUS5, HAUS6, HAUS7, HAUS8, HECTD1, HMMR, IQCB1, KIAA1671, KIF14, LUZP1, MAP7D3, MGA, NCKAP5L, NEDD1, NME7, PALLD, PCM1, PLK1, RASSF8, RLTPR, SAMD4B, SDCCAG3, SPC24, SVIL, TJP1, TNRC6B, TP53, TP53BP2, TTC28, TTF2, TTK, TXLNA, UNC45A, UPF1, WDR83, ACTR2, AHCY, ARPC3, CEP192, CSNK1A1, HMGN3, ISOC1, PIBF1, PMPCB, RAB2A, SSX2IP, TCHP, YWHAH, POC5, KIAA1244, NHP2L1, BAX, MYH13, DOT1L, Cep131, Wdr61, Fus, CDC14A, SYCE3, TCP10L, ZNF331, COG5, EGLN3, RBM10, GTSE1, YWHAE, KLC1, KIAA1429, DYNC1I1, APRT, DSG2, EIF6, ERLIN1, FLOT2, GANAB, GCAT, GNAI3, GSK3A, HUS1, LIPA, MCU, MEN1, MIA3, MRPL41, MSTO1, PCID2, PKP4, PRIM1, PUS1, RAB3B, RFC5, RPL35, SENP1, SLC25A15, STXBP3, TIMM44, TMEM165, TUBA1C, ATP6V1H, ANXA2, IQGAP1, ESYT2, ATP1A1, NUP93, NUP205, SLC25A4, CEP55, WDR3, MYO1D, DNAJB6, LMNB1, PLOD1, AGRN, RPL7, KRT5, NOMO2, GFPT1, ARHGEF2, PRDX4, ACOT9, MCM3, TAF2, LONP1, PFKM, DHX40, FLOT1, MTPAP, PPM1F, RBM14, TUBB6, ARCN1, DNAJA3, LTBP4, TUBB4A, AASS, XIAP, TSFM, ETFA, GTPBP1, GCLM, BICD1, ACTR10, C1orf198, C2CD3, C5orf42, CCDC14, CCDC22, CCDC57, CCDC66, CCDC77, CCDC85C, CCHCR1, CENPJ, CEP135, CEP152, CEP162, CEP170B, CEP250, CEP290, CEP295, CEP85L, CEP95, CGNL1, CIAPIN1, DCTN3, DCTN4, EIF4E2, FAM184A, FAM83G, FOPNL, GRN, ICK, IFFO2, KIF7, KIZ, LATS1, LCA5, LRRCC1, C17orf104, MZT2B, NDE1, ODF2, PDZRN3, PLEKHG1, PPP1R13B, PPP2R3A, PROSER3, PXN, RNF135, RPGRIP1L, SASS6, SCLT1, SPATA2, STIL, TBC1D5, TBKBP1, TEX9, TTC30A, TTLL5, TUBGCP2, TXLNG, WRAP73, YTHDF2, ALMS1, PCNT, SIPA1L3, CYLD, ANKRD26, TBC1D31, FAM83H, USP54, SPAG5, IFT81, LIMD1, CAMSAP1, BACH2, SIPA1L2, CKAP5, INA, GIGYF2, TANC1, CEP97, CTTN, CAMSAP3, HAUS2, ARHGAP21, CAPZB, CAMSAP2, VCPIP1, TTC26, XRN1, EIF4G2, SMG7, RINT1, APC, IFT74, TNRC6A, MIB1, ANKHD1-EIF4EBP3, TBK1, SIPA1L1, NDC80, BRCA2, IFT46, PRKACB, EXOC4, KRT8, L3MBTL2, TRIO, KNSTRN, DPYSL2, PSMC2, KRT19, BICD2, KIAA1217, ZNF598, CAPZA1, nsp13, C14orf166, AUNIP, HIST1H1A, CIT, KIF23, TRIM33, nsp13ab, ORF6, DNAJB5, KDM1A, KRT18, MLLT4, SEPT10, SYNE3, VPS33A, VPS33B, CEP170P1, C15orf59, PIP, ARSE, CCDC96, NUP62, KXD1, WHAMMP3, SNRPC, MBD3L2, PTP4A3, KRT38, SGCA, SERINC2, RNF185, MRPL38, SKA3, APLNR, CCDC51, SNW1, PRPF6, UTP14A, |
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Gene | STRING network |
NIN | ![]() |
CASP10 |
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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 NIN-CASP10 |
![]() (Manual curation of PubMed, 04-30-2022 + MyCancerGenome) |
Hgene | Tgene | Drug | Source | PMID |
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Related Diseases to NIN-CASP10 |
![]() (Manual curation of PubMed, 04-30-2022 + MyCancerGenome) |
Hgene | Tgene | Disease | Source | PMID |
![]() (DisGeNet 4.0) |
Partner | Gene | Disease ID | Disease name | # pubmeds | Source |
Hgene | NIN | C3553870 | SECKEL SYNDROME 7 | 2 | GENOMICS_ENGLAND;ORPHANET;UNIPROT |