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Fusion gene ID: 33836 |
FusionGeneSummary for SIAH2_KIAA1430 |
 Fusion gene summary |
| Fusion gene information | Fusion gene name: SIAH2_KIAA1430 | Fusion gene ID: 33836 | Hgene | Tgene | Gene symbol | SIAH2 | KIAA1430 | Gene ID | 6478 | 57587 |
| Gene name | siah E3 ubiquitin protein ligase 2 | cilia and flagella associated protein 97 | |
| Synonyms | hSiah2 | KIAA1430|hmw | |
| Cytomap | 3q25.1 | 4q35.1 | |
| Type of gene | protein-coding | protein-coding | |
| Description | E3 ubiquitin-protein ligase SIAH2RING-type E3 ubiquitin transferase SIAH2seven in absentia homolog 2siah-2 | cilia- and flagella-associated protein 97 | |
| Modification date | 20180523 | 20180519 | |
| UniProtAcc | O43255 | ||
| Ensembl transtripts involved in fusion gene | ENST00000312960, ENST00000472885, | ENST00000458385, ENST00000514798, ENST00000296775, ENST00000502992, | |
| Fusion gene scores | * DoF score | 3 X 2 X 2=12 | 3 X 2 X 3=18 |
| # samples | 3 | 3 | |
| ** MAII score | log2(3/12*10)=1.32192809488736 effective Gene in Pan-Cancer Fusion Genes (eGinPCFGs). DoF>8 and MAII>0 | log2(3/18*10)=0.736965594166206 effective Gene in Pan-Cancer Fusion Genes (eGinPCFGs). DoF>8 and MAII>0 | |
| Context | PubMed: SIAH2 [Title/Abstract] AND KIAA1430 [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 |
| 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 | RV | BRCA | TCGA-AC-A6IW-01A | SIAH2 | chr3 | 150480220 | - | KIAA1430 | chr4 | 186085333 | - |
| * 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 | ENST00000312960 | ENST00000458385 | SIAH2 | chr3 | 150480220 | - | KIAA1430 | chr4 | 186085333 | - |
| 5CDS-intron | ENST00000312960 | ENST00000514798 | SIAH2 | chr3 | 150480220 | - | KIAA1430 | chr4 | 186085333 | - |
| 5CDS-intron | ENST00000312960 | ENST00000296775 | SIAH2 | chr3 | 150480220 | - | KIAA1430 | chr4 | 186085333 | - |
| 5CDS-intron | ENST00000312960 | ENST00000502992 | SIAH2 | chr3 | 150480220 | - | KIAA1430 | chr4 | 186085333 | - |
| intron-3CDS | ENST00000472885 | ENST00000458385 | SIAH2 | chr3 | 150480220 | - | KIAA1430 | chr4 | 186085333 | - |
| intron-intron | ENST00000472885 | ENST00000514798 | SIAH2 | chr3 | 150480220 | - | KIAA1430 | chr4 | 186085333 | - |
| intron-intron | ENST00000472885 | ENST00000296775 | SIAH2 | chr3 | 150480220 | - | KIAA1430 | chr4 | 186085333 | - |
| intron-intron | ENST00000472885 | ENST00000502992 | SIAH2 | chr3 | 150480220 | - | KIAA1430 | chr4 | 186085333 | - |
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FusionProtFeatures for SIAH2_KIAA1430 |
| Main function of each fusion partner protein. (from UniProt) |
| Hgene | Tgene |
| SIAH2 | KIAA1430 |
| E3 ubiquitin-protein ligase that mediates ubiquitinationand subsequent proteasomal degradation of target proteins. E3ubiquitin ligases accept ubiquitin from an E2 ubiquitin-conjugating enzyme in the form of a thioester and then directlytransfers the ubiquitin to targeted substrates. Mediates E3ubiquitin ligase activity either through direct binding tosubstrates or by functioning as the essential RING domain subunitof larger E3 complexes. Triggers the ubiquitin-mediateddegradation of many substrates, including proteins involved intranscription regulation (GPS2, POU2AF1, PML, NCOR1), a cellsurface receptor (DCC), an antiapoptotic protein (BAG1), and aprotein involved in synaptic vesicle function in neurons (SYP).Mediates ubiquitination and proteasomal degradation of DYRK2 inresponse to hypoxia. It is thereby involved in apoptosis, tumorsuppression, cell cycle, transcription and signaling processes.Has some overlapping function with SIAH1. Triggers the ubiquitin-mediated degradation of TRAF2, whereas SIAH1 does not. Promotesmonoubiquitination of SNCA. {ECO:0000269|PubMed:11483518,ECO:0000269|PubMed:12411493, ECO:0000269|PubMed:19224863,ECO:0000269|PubMed:22878263, ECO:0000269|PubMed:9334332}. | Lectin that binds to various sugars: galactose > mannose= fucose > N-acetylglucosamine > N-acetylgalactosamine(PubMed:10224141). Acts as a chemoattractant, probably involved inthe regulation of cell migration (PubMed:28301481).{ECO:0000269|PubMed:10224141, ECO:0000269|PubMed:28301481}. |
| 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 | SIAH2 | chr3:150480220 | chr4:186085333 | ENST00000312960 | - | 1 | 2 | 80_115 | 139 | 325 | Zinc finger | RING-type |
| Tgene | >KIAA1430 | chr3:150480220 | chr4:186085333 | ENST00000296775 | - | 0 | 4 | 374_450 | -49 | 454 | Coiled coil | Ontology_term=ECO:0000255 |
| Tgene | >KIAA1430 | chr3:150480220 | chr4:186085333 | ENST00000514798 | - | 0 | 4 | 374_450 | -87 | 454 | Coiled coil | Ontology_term=ECO:0000255 |
| Tgene | >KIAA1430 | chr3:150480220 | chr4:186085333 | ENST00000296775 | - | 0 | 4 | 170_236 | -49 | 454 | Compositional bias | Note=Ser-rich |
| Tgene | >KIAA1430 | chr3:150480220 | chr4:186085333 | ENST00000514798 | - | 0 | 4 | 170_236 | -87 | 454 | Compositional bias | Note=Ser-rich |
| - 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 | >SIAH2 | chr3:150480220 | chr4:186085333 | ENST00000312960 | - | 1 | 2 | 130_322 | 139 | 325 | Region | SBD |
| Hgene | >SIAH2 | chr3:150480220 | chr4:186085333 | ENST00000312960 | - | 1 | 2 | 133_193 | 139 | 325 | Zinc finger | SIAH-type |
| Tgene | KIAA1430 | chr3:150480220 | chr4:186085333 | ENST00000458385 | - | 2 | 5 | 374_450 | 440 | 533 | Coiled coil | Ontology_term=ECO:0000255 |
| Tgene | KIAA1430 | chr3:150480220 | chr4:186085333 | ENST00000458385 | - | 2 | 5 | 170_236 | 440 | 533 | Compositional bias | Note=Ser-rich |
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FusionGeneSequence for SIAH2_KIAA1430 |
| 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_SIAH2_ENST00000312960_chr3_150480220_-_KIAA1430_ENST00000458385_chr4_186085333_-_232aa MSRPSSTGPSANKPCSKQPPPQPQHTPSPAAPPAAATISAAGPGSSAVPAAAAVISGPGGGGGAGPVSPQHHELTSLFECPVCFDYVLPP ILQCQAGHLVCNQCRQKLSCCPTCRGALTPSIRNLAMEKVASAVLFPCKALLKRLEAVKPTVGMKRSEQLMDYHRNMGYLNSSPLSRRAR |
| * Fusion transcript sequences (only coding sequence (CDS) region). |
| >In-frame_SIAH2_ENST00000312960_chr3_150480220_-_KIAA1430_ENST00000458385_chr4_186085333_-_696nt ATGAGCCGCCCGTCCTCCACCGGCCCCAGCGCTAATAAACCCTGCAGCAAGCAGCCGCCGCCGCAGCCCCAGCACACTCCGTCCCCGGCT GCGCCCCCGGCCGCCGCCACCATCTCGGCTGCGGGCCCCGGCTCGTCCGCGGTGCCCGCCGCGGCGGCGGTGATCTCGGGCCCCGGCGGC GGCGGCGGGGCCGGCCCGGTGTCCCCGCAGCACCACGAGCTGACCTCGCTCTTCGAGTGTCCGGTCTGCTTTGACTATGTCCTGCCTCCT ATTCTGCAGTGCCAGGCCGGGCACCTGGTGTGTAACCAATGCCGCCAGAAGTTGAGCTGCTGCCCGACGTGCAGGGGCGCCCTGACGCCC AGCATCAGGAACCTGGCTATGGAGAAGGTGGCCTCGGCAGTCCTGTTTCCCTGTAAGGCTTTATTGAAAAGGCTTGAGGCCGTGAAACCA ACAGTTGGTATGAAACGTTCAGAACAACTGATGGACTATCATCGCAATATGGGCTATCTCAACTCATCACCATTGTCAAGACGGGCCAGA TCCACTCTTGGCCAATATAGCCCATTAAGAGCTTCCAGGACATCCAGTGCTACGAGTGGTCTCAGTTGTAGGAGTGAGCGATCAGCGGTT |
| * Fusion transcript sequences (Full-length transcript). |
| >In-frame_SIAH2_ENST00000312960_chr3_150480220_-_KIAA1430_ENST00000458385_chr4_186085333_-_4357nt CCCCGCGGGGCTGCAGCGAGCCAGGCATGCTCACTGGCGCAGGCCCGGCCCGCAGCCCGAGCAGGAAGCGCCGGCGCTAGGCGGCCCCCT GCGCTGCCAGCTGGAGCCGGGCGGAGCCAGCGCCCCGGCGCAGGGTGGCTCTGCCAGTCCCCGCGCGCCTGGGCGGCCGCACACGTGTCC AGGCGTCACGTCCGCGCGCGCCCCCGGGGCTTGCGTCAGCGGCTGTTCCAGAAGCGGGTGGGCCAGGGCTCTGCGCACCGCTGGGGTTCG GGGCCCGGGACGCCGCCGGGAGGAGGGCACCGCGCGGGGTCCGACGCGGAGGCGTGCTCGGAACGCCGGGGGCTGCGGAGTGCATCAGCG CGGTCCAGCCCTCCGCCTGCCGGGCGCCGAGCGTCTCCGCCGCCCGGACCTGGGCTGGGCGCCGTGGCGTTGCCTCGGAGCTCGCTGCCC GCGGGGCGCGCACCGCCTTGACCCGGGCGGCCCCGCGGCAGGCAGGCGCCCGCAGTTCCATGGTTGGTTCGGAGCGCGATGAGCCGCCCG TCCTCCACCGGCCCCAGCGCTAATAAACCCTGCAGCAAGCAGCCGCCGCCGCAGCCCCAGCACACTCCGTCCCCGGCTGCGCCCCCGGCC GCCGCCACCATCTCGGCTGCGGGCCCCGGCTCGTCCGCGGTGCCCGCCGCGGCGGCGGTGATCTCGGGCCCCGGCGGCGGCGGCGGGGCC GGCCCGGTGTCCCCGCAGCACCACGAGCTGACCTCGCTCTTCGAGTGTCCGGTCTGCTTTGACTATGTCCTGCCTCCTATTCTGCAGTGC CAGGCCGGGCACCTGGTGTGTAACCAATGCCGCCAGAAGTTGAGCTGCTGCCCGACGTGCAGGGGCGCCCTGACGCCCAGCATCAGGAAC CTGGCTATGGAGAAGGTGGCCTCGGCAGTCCTGTTTCCCTGTAAGGCTTTATTGAAAAGGCTTGAGGCCGTGAAACCAACAGTTGGTATG AAACGTTCAGAACAACTGATGGACTATCATCGCAATATGGGCTATCTCAACTCATCACCATTGTCAAGACGGGCCAGATCCACTCTTGGC CAATATAGCCCATTAAGAGCTTCCAGGACATCCAGTGCTACGAGTGGTCTCAGTTGTAGGAGTGAGCGATCAGCGGTTGACCCCTCCAGT GGCCACCCTCGAAGAAGACCTAAACCCCCTAATGTCCGTACAGCTTGGTTATAAAACACTTTTTTACTTTAAACATTGTTCACACAACTT TTCTTGAAGTGCTCGTGCATATTCCTATAATTCTCTGTGTAAACATCTAGAATACCGTTTTAGCAATTGAAGGTGTACAACAGTGAGTTG TAATGTATTGTTATTCAGTGCAAAATTATTGTCAAAAAACGATTTAATGTAAAAAGTGTTTCCTGAGGATGTATTTATATGAGATGTATG TGTTCTTAATAGAGAAATAGTGGTATGCATGTGTATCTTCTAATTATTCAGTTGTCATGCTGTCAAAATAGTAGTGATAGTATCATTGCA TGTCGTACCCAAGATGGTCACTATAGTTTTCAATTTGTGTTATTTTCATTTCTTTATAAGTGTTATACCATGAGCTCAGCTCCTAAATTT GGCTGGCTTTGTTTTTCATTTGCTTTAGAACTTATGTGGCATGACATAGCTCGATTGTATGAGATTTAACACTTATTATGAAACAAATCT TGAAATTTGTTTTCACTGGTAGAGCTGATCTAGATTTGATGAGCAGATTGAGAGACGCTTCTATTGGAGCAATTCTTGTAATTCACCAGA GGTATCTAGTTGTTGTATAAGTGCACTGAGTTAGATCTTAAAAGTTTGATCAATCATTCCAAACCATTTCAAATATGAATATTAGAAAGT TCAACTTAGAAGCTTCCCTTTTGTGTTTTCATGCATTCAGGTAAAGTCCTATTTATGACTCTTAGAAATGAGGTAGGTTTTAGAGCTAGT CTTCTAACTCGTGAATAGTTTAAGGACCACATCAGTTGCAAACCAAGTATTTGTTGAATCAGTAAAATGGCACTATCAGCATGAAGAGCC GAGAAGCAGATCCTGAGGTGTGTCGGACAGTGTTTTAGGTAATTCAGTATTTATTATGTTATTAGAGAAGACTTAGCGTAAGAAAGAAAT GCTTTAGAAATTCCAGCAAGTATTTATAAGGCCTGAAAAAACTAAAATTTGAACAAAAAGGGAAATAAATCACACATTTGTTGAGGCTGC TGCTTTAAGTATTAGCTAATTTTCTTGTTTTGGTTTACTTTGATTTATTTGATTGAACCCTGGAAGTATTATTTTTACCAGTCCCACATT TAAAGACCTAGTAATCTTGATGGAATTGGTAATGGCAGATAGGGTTTAATGTTGTTGACTTTTCAAATTAGAATTTTTTTTCTATGAAAC TTAGGCTTTTATATAACAAAGTATGTTATCTCATTGTTACCGCCGTTTTTCACTACTAGCCTTTTCAGTATGCCCTTAAAATGTATTGGA AAGGTTCCATGTTAAATGACAAATATCTTTTTCAGTATGAATTTTTGATCTGTAGCCACAATAAGATTTTCATTTTTCAGTGCTCAGGCT CTGTAGCATGTATGCTGAATGCTTTTTTCCTTAGCACCTTTAACAGTAAGGTGTTACTGCATTTTACAAAACATCAATTCAACATGTCTT GGATTTAGTTTGTATTCATAGATTTTGTTAAGGATCAGGCCTGTGAACATGGGCACAGTGAGGTTAAATAATTCACCTGGCCACAACCTG GCTTTGAGGTTCTGCTTTTGGGGGCCATAATTTTCATTCAATGTTATTCGATGCTCTGTTCTGGTGAACAAGTTACTATACCTGCTGTGT ATATAAGCTTGAGCTATACTAAACCAAGGCTTTATTTTCTTTTGTTTTTTAACTTACTGTACTTTTACTGTTTATATAACCTATATTTCA AGAGAGAGAAGATAATGCTGAATTTTAAATTTAGCATTTGAACATCTGTCCAATAGTGAATTAATCAGTTTTTTTAAAATTGATTTTTAA GTTGTTCCAGAAAAAAATATATATATATGTTTTATATATATAATCTTTTTATATATATAAAAAATCTTTTTTATAAATTTTATTTTAAAA ATCTTTTAAAAAAGATTTTTATATATATATAAAGATTATATATTTATATATAGTCTTTTCTGTTCATAATGGCATTAGTCTCTGAGTACA TTTTATATTATCTTTGTTGCCACATGTCAGGATACAACACAATAGTTTTATAAATAACAACTGTACTTTGATTTTAGGTACTAATTTAAT GCTTTAGTTTTTACTACTTTGAAAGGGGAGGTTCATCTAAGTATTACTGATAACAGGGATCCAACTTAAAGTAAAAGTTGGAAAGGGCAA GAGTCTTTTAAGCGGAACTTCAATTCTGTTGTCATGGTTACTTATATATAATGAATATAAATAGACAAATAGGACTTGGAAAATGTGGTA TATTCTAAGTCAAGATGCTATGAAGTTGTTATAGTTTAAGGGACATTCTTAAGAAGGAATTACTTAAGTACATTACTCTTCTCATTTCAA GGACATGAAAAAGTAAAGGATGGTCTGGCACTATTTTATTTTATTTTTTTTTTGACTTGTACTGAATATATGTACTTTGAAGATTTACAT CTATAACTAGAAAGTATGCTAATCCGAGGTCTGGTTATTAGGCCAGATTCTTGTTCAGTTATTTTTTAAACTAATGTTGCCTCCTTTTTA GTAAGATTCTACGAAAGTTTTTTAACTATTAAAGTTATTTCTTAAGGGGTAGCTCTTATACTTCCTCTGCTCTCTTTTTCAGTTTCCATA AAAAGCTGTTTTCTTAGCTATTACTCCAAATAAAGTTCTTTGGTTTGCTTAAAAATGTAGTGTAATGCAGTTGTTTTCTCTCCGCTAACC TGAGTGTCCACAGTAGATATCGAGACAGCTTTAGGAAGGTGACGGTCATGGGTAAGTGACGGCTGTGCCTGTCATCTTCAGATTCTTCAA ATACTGCAAACTATGAAACATGTTAAGACCAATATAAACCCAAAGATGTGAGTTGATTATACTTTAATAATTACATTCATAAAAAGTTTA CTATCTTCAATGCCAAAAAAGTCTTAACCTATAAATGATTATATACAATCTTAGAAAATGTGCTTAACAGTTATGGCTTCTTTATTTCTA TGAGGAAAGATTAGTAAGAAACTTAAAATTAACATCCTTTTAAGATTTTCTGTTCCATTTTAATGTATTTTAGGCATTTAGAACTAGCCT |
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FusionGenePPI for SIAH2_KIAA1430 |
| 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 |
| SIAH2 | PEG10, RBBP8, TRAF2, PEG3, VAV1, AKAP1, PIAS1, PIAS2, UBE2I, PIAS3, SNCAIP, DLST, SNCA, EGLN2, EGLN1, EGLN3, PLCE1, USP13, SPRY2, HIPK2, HDAC3, SKI, PSMD4, TINF2, USP19, CEBPD, AFF1, PPP1CC, DCC, SH3RF1, PPP1R12A, DYRK2, PML, TPX2, ATN1, UBE2D2, UBE2D1, KAT5, KAT2B, TNK2, HIPK3, AR, PPP1R13B, TP53BP2, NFE2L2, SIAH2, UBE2D3, EEF1D, CCBE1, SETD2, MYD88, STAT3, UBE2L6, XAF1, OPRM1, OPRD1, OPRK1, SIAH1, DLD, TYK2, AKR1C3, MCM2, CHEK2, EAF2, ZYX, LATS2, PRR20E, PRICKLE3 | KIAA1430 |
| - 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 SIAH2_KIAA1430 |
| 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 SIAH2_KIAA1430 |
| Diseases associated with fusion partners. (DisGeNet 4.0) |
| Partner | Gene | Disease ID | Disease name | # pubmeds | Source |
| Hgene | SIAH2 | C0023308 | Lens Diseases | 1 | CTD_human |
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