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Fusion gene ID: 34850 |
FusionGeneSummary for SMC1A_GTPBP6 |
 Fusion gene summary |
| Fusion gene information | Fusion gene name: SMC1A_GTPBP6 | Fusion gene ID: 34850 | Hgene | Tgene | Gene symbol | SMC1A | GTPBP6 | Gene ID | 8243 | 8225 |
| Gene name | structural maintenance of chromosomes 1A | GTP binding protein 6 (putative) | |
| Synonyms | CDLS2|DXS423E|SB1.8|SMC1|SMC1L1|SMC1alpha|SMCB | PGPL | |
| Cytomap | Xp11.22 | Xp22.33 and Yp11.31 | |
| Type of gene | protein-coding | protein-coding | |
| Description | structural maintenance of chromosomes protein 1ASMC protein 1ASMC-1-alphaSMC1 (structural maintenance of chromosomes 1, yeast)-like 1segregation of mitotic chromosomes 1 | putative GTP-binding protein 6 | |
| Modification date | 20180522 | 20180523 | |
| UniProtAcc | Q14683 | O43824 | |
| Ensembl transtripts involved in fusion gene | ENST00000322213, ENST00000469129, ENST00000375340, | ENST00000326153, | |
| Fusion gene scores | * DoF score | 5 X 5 X 4=100 | 1 X 1 X 1=1 |
| # samples | 6 | 1 | |
| ** MAII score | log2(6/100*10)=-0.736965594166206 possibly effective Gene in Pan-Cancer Fusion Genes (peGinPCFGs). DoF>8 and MAII<0 | log2(1/1*10)=3.32192809488736 | |
| Context | PubMed: SMC1A [Title/Abstract] AND GTPBP6 [Title/Abstract] AND fusion [Title/Abstract] | ||
| Functional or gene categories assigned by FusionGDB annotation | |||
| * 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 | SMC1A | GO:0072423 | response to DNA damage checkpoint signaling | 11877377 |
| Fusion gene information from three resources (ChiTars (NAR, 2018), tumorfusions (NAR, 2018), Gao et al. (Cell, 2018)) * 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. |
| Data type | Source | Cancer type | Sample | Hgene | Hchr | Hbp | Hstrand | Tgene | Tchr | Tbp | Tstrand |
| TCGA | LD | BRCA | TCGA-AO-A0JE-01A | SMC1A | chrX | 53421698 | - | GTPBP6 | chrY | 171864 | - |
| * LD: Li Ding group's fusion gene list RV: Roel Verhaak group's fusion gene list ChiTaRs fusion database |
| Open reading frame (ORF) analsis of fusion genes based on Ensembl gene isoform structure. * 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 |
| In-frame | ENST00000322213 | ENST00000326153 | SMC1A | chrX | 53421698 | - | GTPBP6 | chrY | 171864 | - |
| intron-3CDS | ENST00000469129 | ENST00000326153 | SMC1A | chrX | 53421698 | - | GTPBP6 | chrY | 171864 | - |
| intron-3CDS | ENST00000375340 | ENST00000326153 | SMC1A | chrX | 53421698 | - | GTPBP6 | chrY | 171864 | - |
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FusionProtFeatures for SMC1A_GTPBP6 |
| Main function of each fusion partner protein. (from UniProt) |
| Hgene | Tgene |
| SMC1A | GTPBP6 |
| Involved in chromosome cohesion during cell cycle and inDNA repair. Central component of cohesin complex. The cohesincomplex is required for the cohesion of sister chromatids afterDNA replication. The cohesin complex apparently forms a largeproteinaceous ring within which sister chromatids can be trapped.At anaphase, the complex is cleaved and dissociates fromchromatin, allowing sister chromatids to segregate. The cohesincomplex may also play a role in spindle pole assembly duringmitosis. Involved in DNA repair via its interaction with BRCA1 andits related phosphorylation by ATM, or via its phosphorylation byATR. Works as a downstream effector both in the ATM/NBS1 branchand in the ATR/MSH2 branch of S-phase checkpoint.{ECO:0000269|PubMed:11877377}. |
| 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. |
| - 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 | SMC1A | chrX:53421698 | chrY:171864 | ENST00000322213 | - | 19 | 25 | 104_124 | 991 | 1234 | Coiled coil | Ontology_term=ECO:0000255 |
| Hgene | SMC1A | chrX:53421698 | chrY:171864 | ENST00000322213 | - | 19 | 25 | 163_503 | 991 | 1234 | Coiled coil | Ontology_term=ECO:0000255 |
| Hgene | SMC1A | chrX:53421698 | chrY:171864 | ENST00000322213 | - | 19 | 25 | 660_935 | 991 | 1234 | Coiled coil | Ontology_term=ECO:0000255 |
| Hgene | SMC1A | chrX:53421698 | chrY:171864 | ENST00000322213 | - | 19 | 25 | 32_39 | 991 | 1234 | Nucleotide binding | ATP |
| Hgene | SMC1A | chrX:53421698 | chrY:171864 | ENST00000322213 | - | 19 | 25 | 504_659 | 991 | 1234 | Region | Note=Flexible hinge |
| Tgene | >GTPBP6 | chrX:53421698 | chrY:171864 | ENST00000326153 | - | 4 | 7 | 295_459 | 246 | 474 | Domain | Hflx-type G |
| Tgene | >GTPBP6 | chrX:53421698 | chrY:171864 | ENST00000326153 | - | 4 | 7 | 301_308 | 246 | 474 | Nucleotide binding | GTP |
| Tgene | >GTPBP6 | chrX:53421698 | chrY:171864 | ENST00000326153 | - | 4 | 7 | 327_331 | 246 | 474 | Nucleotide binding | GTP |
| Tgene | >GTPBP6 | chrX:53421698 | chrY:171864 | ENST00000326153 | - | 4 | 7 | 349_352 | 246 | 474 | Nucleotide binding | GTP |
| Tgene | >GTPBP6 | chrX:53421698 | chrY:171864 | ENST00000326153 | - | 4 | 7 | 418_421 | 246 | 474 | Nucleotide binding | GTP |
| Tgene | >GTPBP6 | chrX:53421698 | chrY:171864 | ENST00000326153 | - | 4 | 7 | 437_439 | 246 | 474 | Nucleotide binding | GTP |
| - 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 | >SMC1A | chrX:53421698 | chrY:171864 | ENST00000322213 | - | 19 | 25 | 991_1068 | 991 | 1234 | Coiled coil | Ontology_term=ECO:0000255 |
| Hgene | >SMC1A | chrX:53421698 | chrY:171864 | ENST00000322213 | - | 19 | 25 | 1128_1163 | 991 | 1234 | Compositional bias | Note=Ala/Asp-rich (DA-box) |
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FusionGeneSequence for SMC1A_GTPBP6 |
| For in-frame fusion transcripts, we provide the fusion transcript sequences and fusion amino acid sequences. (nt: nucleotides, aa: amino acids) |
| * Fusion amino acid sequences. |
| >In-frame_SMC1A_ENST00000322213_chrX_53421698_-_GTPBP6_ENST00000326153_chrY_171864_-_1032aa MGFLKLIEIENFKSYKGRQIIGPFQRFTAIIGPNGSGKSNLMDAISFVLGEKTSNLRVKTLRDLIHGAPVGKPAANRAFVSMVYSEEGAE DRTFARVIVGGSSEYKINNKVVQLHEYSEELEKLGILIKARNFLVFQGAVESIAMKNPKERTALFEEISRSGELAQEYDKRKKEMVKAEE DTQFNYHRKKNIAAERKEAKQEKEEADRYQRLKDEVVRAQVQLQLFKLYHNEVEIEKLNKELASKNKEIEKDKKRMDKVEDELKEKKKEL GKMMREQQQIEKEIKEKDSELNQKRPQYIKAKENTSHKIKKLEAAKKSLQNAQKHYKKRKGDMDELEKEMLSVEKARQEFEERMEEESQS QGRDLTLEENQVKKYHRLKEEASKRAATLAQELEKFNRDQKADQDRLDLEERKKVETEAKIKQKLREIEENQKRIEKLEEYITTSKQSLE EQKKLEGELTEEVEMAKRRIDEINKELNQVMEQLGDARIDRQESSRQQRKAEIMESIKRLYPGSVYGRLIDLCQPTQKKYQIAVTKVLGK NMDAIIVDSEKTGRDCIQYIKEQRGEPETFLPLDYLEVKPTDEKLRELKGAKLVIDVIRYEPPHIKKALQYACGNALVCDNVEDARRIAF GGHQRHKTVALDGTLFQKSGVISGGASDLKAKARRWDEKAVDKLKEKKERLTEELKEQMKAKRKEAELRQVQSQAHGLQMRLKYSQSDLE QTKTRHLALNLQEKSKLESELANFGPRINDIKRIIQSREREMKDLKEKMNQVEDEVFEEFCREIGVRNIREFEEEKVKRQNEIAKKRLEF ENQKTRLGIQLDFEKNQLKEDQDKVHMWEQTVKKDENEIEKLKKEEQRHMKIIDETMAQLQDLKNQHLAKKSEVNDKNHEMEEIRKKLGG ANKEMTHLQKEVTAIETKLEQKRSDRHNLLQACKMQDIKLPLSKGTMDDISQEEGSSQGEDSVSGSQRISSIYAREALIEIDYGDLCEDL |
| * Fusion transcript sequences (only coding sequence (CDS) region). |
| >In-frame_SMC1A_ENST00000322213_chrX_53421698_-_GTPBP6_ENST00000326153_chrY_171864_-_3097nt ATGGGGTTCCTGAAACTGATTGAGATTGAGAACTTTAAGTCGTACAAGGGTCGACAGATTATCGGACCATTTCAGAGGTTCACCGCCATC ATTGGACCCAATGGCTCTGGTAAGTCAAATCTCATGGATGCCATCAGCTTTGTGCTAGGTGAAAAAACCAGCAACCTGCGGGTAAAGACC CTGCGGGACCTGATCCATGGAGCTCCTGTGGGCAAGCCAGCTGCCAACCGGGCCTTTGTCAGCATGGTCTACTCTGAGGAGGGTGCTGAG GACCGTACCTTTGCCCGTGTCATTGTAGGAGGTTCTTCTGAGTACAAGATCAACAACAAAGTGGTCCAACTACATGAGTACAGTGAGGAA TTAGAGAAGTTGGGCATTCTCATCAAAGCTCGTAACTTCCTCGTTTTCCAGGGTGCTGTGGAATCTATTGCCATGAAGAACCCCAAAGAG AGGACAGCTCTATTTGAAGAGATTAGTCGTTCTGGGGAGCTGGCGCAGGAGTATGACAAGCGAAAGAAGGAAATGGTGAAGGCTGAAGAG GACACACAGTTTAATTACCATCGCAAGAAAAATATTGCGGCTGAACGCAAGGAAGCAAAGCAGGAGAAAGAAGAGGCTGACCGGTACCAG CGCCTGAAGGATGAGGTAGTACGGGCTCAGGTACAGCTGCAGCTCTTTAAGCTTTACCATAATGAAGTGGAAATTGAGAAGCTCAACAAG GAACTGGCCTCAAAGAACAAGGAGATCGAGAAGGACAAGAAGCGTATGGACAAGGTGGAGGATGAACTGAAGGAGAAGAAGAAGGAGCTG GGCAAAATGATGCGGGAGCAGCAGCAGATTGAGAAGGAGATCAAGGAGAAGGACTCAGAATTGAACCAGAAGCGGCCTCAGTACATCAAA GCCAAGGAGAACACCTCCCACAAAATCAAGAAGCTGGAAGCAGCCAAGAAGTCTCTGCAGAATGCTCAGAAGCACTACAAGAAGCGTAAA GGTGACATGGATGAGCTGGAGAAGGAGATGCTGTCAGTGGAGAAGGCTCGGCAGGAGTTTGAAGAACGGATGGAAGAAGAGAGTCAGAGT CAGGGCAGAGATTTGACGTTGGAGGAGAATCAGGTGAAGAAATACCACCGGTTGAAAGAAGAAGCCAGCAAGAGAGCAGCTACCCTGGCC CAGGAGCTGGAGAAATTCAATCGAGACCAGAAAGCTGACCAGGACCGTCTGGATCTGGAAGAACGGAAGAAAGTAGAGACAGAGGCCAAG ATCAAGCAAAAGCTGCGGGAAATTGAAGAGAATCAGAAGCGGATTGAGAAACTGGAGGAATACATCACCACTAGCAAGCAGTCCCTAGAA GAGCAGAAGAAGCTAGAGGGGGAGCTGACAGAGGAGGTGGAGATGGCCAAGCGGCGTATTGATGAAATCAATAAGGAGCTGAACCAGGTG ATGGAGCAGCTAGGGGATGCCCGCATCGACCGCCAGGAGAGCAGCCGCCAGCAGCGAAAGGCAGAGATAATGGAAAGCATCAAGCGCCTT TACCCTGGCTCTGTGTACGGCCGCCTCATTGACCTATGCCAGCCCACACAAAAGAAGTATCAGATTGCTGTAACCAAGGTTTTGGGCAAG AACATGGATGCCATTATTGTGGACTCGGAGAAGACAGGCCGGGACTGTATTCAGTATATCAAGGAGCAGCGTGGGGAGCCTGAGACCTTC TTGCCTCTTGACTACCTGGAGGTGAAGCCTACAGATGAGAAACTCCGGGAGCTGAAGGGGGCCAAGCTAGTGATTGATGTGATTCGCTAT GAGCCACCTCATATCAAAAAGGCCCTGCAGTATGCTTGTGGCAATGCCCTTGTCTGTGACAACGTGGAAGATGCCCGCCGCATTGCCTTT GGAGGCCACCAGCGCCACAAGACAGTGGCACTGGATGGAACCCTATTCCAGAAGTCAGGAGTGATCTCTGGTGGGGCCAGTGACCTGAAG GCCAAGGCACGGCGCTGGGATGAGAAAGCAGTAGACAAGTTGAAAGAGAAGAAGGAGCGCTTGACAGAGGAGCTGAAAGAGCAGATGAAG GCAAAACGGAAAGAGGCAGAGCTGCGTCAGGTGCAGTCTCAGGCCCATGGACTGCAGATGCGGCTCAAGTACTCCCAGAGTGACCTAGAA CAGACCAAGACACGACATCTAGCCCTGAATCTGCAGGAAAAATCCAAGCTGGAGAGTGAGCTAGCCAACTTTGGGCCTCGCATTAATGAT ATCAAGAGGATCATTCAGAGCCGAGAGAGGGAAATGAAAGACTTGAAGGAGAAGATGAACCAGGTAGAGGATGAGGTGTTTGAAGAGTTT TGTCGGGAGATTGGTGTGCGCAACATCCGGGAGTTTGAGGAAGAAAAGGTGAAACGGCAGAATGAAATCGCCAAGAAGCGTTTGGAGTTT GAGAATCAGAAGACTCGCTTGGGCATTCAGTTGGATTTTGAAAAGAACCAACTGAAGGAGGACCAAGATAAAGTACACATGTGGGAGCAG ACAGTGAAAAAAGATGAAAATGAGATAGAAAAGCTCAAAAAGGAGGAACAAAGACACATGAAGATCATAGATGAGACCATGGCTCAGCTA CAAGACCTGAAGAATCAGCATCTGGCCAAGAAGTCGGAAGTGAATGACAAGAATCATGAGATGGAGGAGATTCGTAAGAAACTCGGGGGC GCCAACAAGGAAATGACCCATTTACAGAAGGAGGTGACAGCCATTGAGACCAAGCTTGAACAGAAGCGCAGTGACCGTCACAACTTGCTA CAGGCCTGTAAGATGCAGGACATTAAGTTGCCACTGTCAAAAGGCACCATGGATGATATTAGTCAGGAAGAGGGTAGCTCCCAGGGGGAG GACTCAGTGAGTGGTTCACAGAGAATTTCCAGTATCTATGCACGAGAGGCCCTCATTGAGATTGACTACGGTGATCTGTGTGAGGATCTG AAGCTGGCTGTATAAGGAGGCCACAGTTCAGGAGGTGGACGTGATCCCTGAGGACGGGGCGGCCGACGTGAGGGTCATCATCAGCAACTC |
| * Fusion transcript sequences (Full-length transcript). |
| >In-frame_SMC1A_ENST00000322213_chrX_53421698_-_GTPBP6_ENST00000326153_chrY_171864_-_3888nt AGGCCTGGACGTATTCTCGCGACATTTGCCGGTCGCCCGGCTTGCACTGCGGCGTTTCCCGCGCGGGCTACCTCAGTTCTCGGGCGTACG GCGCGGCCTGTCCTACTGCCGCCGGCGCCGCGGCCGTCATGGGGTTCCTGAAACTGATTGAGATTGAGAACTTTAAGTCGTACAAGGGTC GACAGATTATCGGACCATTTCAGAGGTTCACCGCCATCATTGGACCCAATGGCTCTGGTAAGTCAAATCTCATGGATGCCATCAGCTTTG TGCTAGGTGAAAAAACCAGCAACCTGCGGGTAAAGACCCTGCGGGACCTGATCCATGGAGCTCCTGTGGGCAAGCCAGCTGCCAACCGGG CCTTTGTCAGCATGGTCTACTCTGAGGAGGGTGCTGAGGACCGTACCTTTGCCCGTGTCATTGTAGGAGGTTCTTCTGAGTACAAGATCA ACAACAAAGTGGTCCAACTACATGAGTACAGTGAGGAATTAGAGAAGTTGGGCATTCTCATCAAAGCTCGTAACTTCCTCGTTTTCCAGG GTGCTGTGGAATCTATTGCCATGAAGAACCCCAAAGAGAGGACAGCTCTATTTGAAGAGATTAGTCGTTCTGGGGAGCTGGCGCAGGAGT ATGACAAGCGAAAGAAGGAAATGGTGAAGGCTGAAGAGGACACACAGTTTAATTACCATCGCAAGAAAAATATTGCGGCTGAACGCAAGG AAGCAAAGCAGGAGAAAGAAGAGGCTGACCGGTACCAGCGCCTGAAGGATGAGGTAGTACGGGCTCAGGTACAGCTGCAGCTCTTTAAGC TTTACCATAATGAAGTGGAAATTGAGAAGCTCAACAAGGAACTGGCCTCAAAGAACAAGGAGATCGAGAAGGACAAGAAGCGTATGGACA AGGTGGAGGATGAACTGAAGGAGAAGAAGAAGGAGCTGGGCAAAATGATGCGGGAGCAGCAGCAGATTGAGAAGGAGATCAAGGAGAAGG ACTCAGAATTGAACCAGAAGCGGCCTCAGTACATCAAAGCCAAGGAGAACACCTCCCACAAAATCAAGAAGCTGGAAGCAGCCAAGAAGT CTCTGCAGAATGCTCAGAAGCACTACAAGAAGCGTAAAGGTGACATGGATGAGCTGGAGAAGGAGATGCTGTCAGTGGAGAAGGCTCGGC AGGAGTTTGAAGAACGGATGGAAGAAGAGAGTCAGAGTCAGGGCAGAGATTTGACGTTGGAGGAGAATCAGGTGAAGAAATACCACCGGT TGAAAGAAGAAGCCAGCAAGAGAGCAGCTACCCTGGCCCAGGAGCTGGAGAAATTCAATCGAGACCAGAAAGCTGACCAGGACCGTCTGG ATCTGGAAGAACGGAAGAAAGTAGAGACAGAGGCCAAGATCAAGCAAAAGCTGCGGGAAATTGAAGAGAATCAGAAGCGGATTGAGAAAC TGGAGGAATACATCACCACTAGCAAGCAGTCCCTAGAAGAGCAGAAGAAGCTAGAGGGGGAGCTGACAGAGGAGGTGGAGATGGCCAAGC GGCGTATTGATGAAATCAATAAGGAGCTGAACCAGGTGATGGAGCAGCTAGGGGATGCCCGCATCGACCGCCAGGAGAGCAGCCGCCAGC AGCGAAAGGCAGAGATAATGGAAAGCATCAAGCGCCTTTACCCTGGCTCTGTGTACGGCCGCCTCATTGACCTATGCCAGCCCACACAAA AGAAGTATCAGATTGCTGTAACCAAGGTTTTGGGCAAGAACATGGATGCCATTATTGTGGACTCGGAGAAGACAGGCCGGGACTGTATTC AGTATATCAAGGAGCAGCGTGGGGAGCCTGAGACCTTCTTGCCTCTTGACTACCTGGAGGTGAAGCCTACAGATGAGAAACTCCGGGAGC TGAAGGGGGCCAAGCTAGTGATTGATGTGATTCGCTATGAGCCACCTCATATCAAAAAGGCCCTGCAGTATGCTTGTGGCAATGCCCTTG TCTGTGACAACGTGGAAGATGCCCGCCGCATTGCCTTTGGAGGCCACCAGCGCCACAAGACAGTGGCACTGGATGGAACCCTATTCCAGA AGTCAGGAGTGATCTCTGGTGGGGCCAGTGACCTGAAGGCCAAGGCACGGCGCTGGGATGAGAAAGCAGTAGACAAGTTGAAAGAGAAGA AGGAGCGCTTGACAGAGGAGCTGAAAGAGCAGATGAAGGCAAAACGGAAAGAGGCAGAGCTGCGTCAGGTGCAGTCTCAGGCCCATGGAC TGCAGATGCGGCTCAAGTACTCCCAGAGTGACCTAGAACAGACCAAGACACGACATCTAGCCCTGAATCTGCAGGAAAAATCCAAGCTGG AGAGTGAGCTAGCCAACTTTGGGCCTCGCATTAATGATATCAAGAGGATCATTCAGAGCCGAGAGAGGGAAATGAAAGACTTGAAGGAGA AGATGAACCAGGTAGAGGATGAGGTGTTTGAAGAGTTTTGTCGGGAGATTGGTGTGCGCAACATCCGGGAGTTTGAGGAAGAAAAGGTGA AACGGCAGAATGAAATCGCCAAGAAGCGTTTGGAGTTTGAGAATCAGAAGACTCGCTTGGGCATTCAGTTGGATTTTGAAAAGAACCAAC TGAAGGAGGACCAAGATAAAGTACACATGTGGGAGCAGACAGTGAAAAAAGATGAAAATGAGATAGAAAAGCTCAAAAAGGAGGAACAAA GACACATGAAGATCATAGATGAGACCATGGCTCAGCTACAAGACCTGAAGAATCAGCATCTGGCCAAGAAGTCGGAAGTGAATGACAAGA ATCATGAGATGGAGGAGATTCGTAAGAAACTCGGGGGCGCCAACAAGGAAATGACCCATTTACAGAAGGAGGTGACAGCCATTGAGACCA AGCTTGAACAGAAGCGCAGTGACCGTCACAACTTGCTACAGGCCTGTAAGATGCAGGACATTAAGTTGCCACTGTCAAAAGGCACCATGG ATGATATTAGTCAGGAAGAGGGTAGCTCCCAGGGGGAGGACTCAGTGAGTGGTTCACAGAGAATTTCCAGTATCTATGCACGAGAGGCCC TCATTGAGATTGACTACGGTGATCTGTGTGAGGATCTGAAGCTGGCTGTATAAGGAGGCCACAGTTCAGGAGGTGGACGTGATCCCTGAG GACGGGGCGGCCGACGTGAGGGTCATCATCAGCAACTCAGCCTACGGCAAATTCCGGAAGCTCTTTCCAGGATGAACGGACGCCCACAGA GGCCTGCGGGGTGGGGGCATCGCTGCCTGGGGAGCTGAGGCGTTACCGCTGTGTTGGGGGCAGCTTGGTGTCAGGTGCAGCAGGGTCCTC CTTGTCTGGTTCTGCACCCGTCTCGCTCCCAGCCATTTGCTGGGATGACCGTGCAGGCCGGTGACACGGCCGCACCTGCCCCAAAGCGGG CCGCCCGAGCGTCCACTCCAAGCCTGAGCATCCACACAATTCCAGTGGGCCCTCGGTGCCTGCTGTGAACTGCTTTCCCTCGGAATGTTT CCGTAACAGGACATTAAACCTTTGATTTTACTTCCGTGAGCAGCATTTCCAGTTCCTCCTGCACCTGCCGTGAGCCGTGGCCCTGGTGGG CACCGACGGCCCCTCCGCCCGGCTGTCTGTGTTCACAGATGGTCTCGTTTCCCATGGTGGTGTCGGGGAAATGACGAAAAATCAGGTTTC CCGGCAGCACAGAGAACCCTTCCACAAAAGTAGAAGGGAAAGCAAATAGTTTTACTAAAGAAGCAGCTTCAAACCAGACCGTGAGCCACC GCACCCGGCCTCCTGAATTAACATTTTCTAAAGATGCTTCTGGCGTGCTATCCTGAAAGCTGCCAGAGGTGTCTTGGCTGCATTGGTGGT |
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FusionGenePPI for SMC1A_GTPBP6 |
| 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 (BIOGRID-3.4.160) |
| Hgene | Hgene's interactors | Tgene | Tgene's interactors |
| SMC1A | STYXL1, CASP4, CDK4, ATM, SMC3, MSH6, CHTF18, SYCP3, SMARCA5, RAD21, NUMA1, STAG1, STAG3, RAE1, SMC1A, USP13, USP32, MLH1, ATRX, AIRE, ATG2A, ATG4C, BECN1, CAMKK2, PRKAA2, MGMT, SRRM1, RPGR, ATR, PHF1, CTCF, PAXIP1, THRA, THRB, KDM1B, EHMT2, SSU72, STAG2, PDS5A, PDS5B, WFDC5, BRCA1, HDAC5, WAPAL, BARD1, SMARCAD1, POLR2A, NIPBL, CDK8, CEBPA, MDC1, CUL3, CDK2, NSMCE2, FBXO6, MCM7, SF3B3, SMC2, RBM14, ACIN1, NOTCH1, METTL21B, MCM6, RFC1, POLA1, HDAC8, HDAC11, CDK20, ANKRD28, ARMCX3, KIF13A, RPA3, RPA2, RPA1, STAU1, CUL7, OBSL1, CCDC8, EED, RNF2, EGFR, SIRT6, ABCE1, ESR1, CDCA5, SDF4, PSMC2, NDC80, PLK1, POLE, SF3A2, SMC4, NTRK1, SCARNA22, HIST1H3E, BPTF, GANC, PEX1, HLTF, YWHAZ, SNX3, MRPL50, AKR7A2, SAP30, KCTD2, OSBPL3, PRPF19, KIAA1191, MTUS1, HAUS3, GCC1, NUF2, MGME1, LSM14B, DDI1, IRF3, TEAD2, FOXB1, FOXG1, FOXJ2, EP300, BRD4, FOXL1, FOXQ1, NF2, USP37, SNW1, CDC5L, RNF126, DERL1, USP15, SPAG9, MCM2, MCM4, EPS15L1, IVNS1ABP, GTF3C4, HSF1, NCL, MTF1 | GTPBP6 | THTPA, MRPL4, SDF4, SKAP1, CASQ2, IP6K2, THBS3, MRPL12, CD79A, TRIM25 |
| - Retained PPIs in in-frame fusion. |
| Partner | Gene | Hbp | Tbp | ENST | Strand | BPexon | TotalExon | Protein feature loci | *BPloci | TotalLen | Still interaction with |
| - Lost PPIs in in-frame fusion. |
| Partner | Gene | Hbp | Tbp | ENST | Strand | BPexon | TotalExon | Protein feature loci | *BPloci | TotalLen | Interaction lost with |
| - Retained PPIs, but lost function due to frame-shift fusion. |
| Partner | Gene | Hbp | Tbp | ENST | Strand | BPexon | TotalExon | Protein feature loci | *BPloci | TotalLen | Interaction lost with |
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RelatedDrugs for SMC1A_GTPBP6 |
| Drugs targeting genes involved in this fusion gene. (DrugBank Version 5.1.0 2018-04-02) |
| Partner | Gene | UniProtAcc | DrugBank ID | Drug name | Drug activity | Drug type | Drug status |
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RelatedDiseases for SMC1A_GTPBP6 |
| Diseases associated with fusion partners. (DisGeNet 4.0) |
| Partner | Gene | Disease ID | Disease name | # pubmeds | Source |
| Hgene | SMC1A | C1802395 | Congenital muscular hypertrophy-cerebral syndrome | 5 | UNIPROT |
| Hgene | SMC1A | C0005695 | Bladder Neoplasm | 1 | CTD_human |
| Hgene | SMC1A | C0010606 | Adenoid Cystic Carcinoma | 1 | CTD_human |
| Hgene | SMC1A | C0023470 | Myeloid Leukemia | 1 | CTD_human |
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