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Center for Computational Systems Medicine
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FusionGeneSummary

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FusionProtFeature

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FusionGeneSequence

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FusionGenePPI

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RelatedDrugs

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RelatedDiseases

Fusion gene ID: 33836

FusionGeneSummary for SIAH2_KIAA1430

check button Fusion gene summary
Fusion gene informationFusion gene name: SIAH2_KIAA1430
Fusion gene ID: 33836
HgeneTgene
Gene symbol

SIAH2

KIAA1430

Gene ID

6478

57587

Gene namesiah E3 ubiquitin protein ligase 2cilia and flagella associated protein 97
SynonymshSiah2KIAA1430|hmw
Cytomap

3q25.1

4q35.1

Type of geneprotein-codingprotein-coding
DescriptionE3 ubiquitin-protein ligase SIAH2RING-type E3 ubiquitin transferase SIAH2seven in absentia homolog 2siah-2cilia- and flagella-associated protein 97
Modification date2018052320180519
UniProtAcc

O43255

Ensembl transtripts involved in fusion geneENST00000312960, ENST00000472885, 
ENST00000458385, ENST00000514798, 
ENST00000296775, ENST00000502992, 
Fusion gene scores* DoF score3 X 2 X 2=123 X 2 X 3=18
# samples 33
** MAII scorelog2(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)

check button Gene ontology of each fusion partner gene with evidence of Inferred from Direct Assay (IDA) from Entrez
PartnerGeneGO IDGO termPubMed ID

check button 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 typeSourceCancer typeSampleHgeneHchrHbpHstrandTgeneTchrTbpTstrand
TCGARVBRCATCGA-AC-A6IW-01ASIAH2chr3

150480220

-KIAA1430chr4

186085333

-
* LD: Li Ding group's fusion gene list
  RV: Roel Verhaak group's fusion gene list
  ChiTaRs fusion database

check button 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.
ORFHenstTenstHgeneHchrHbpHstrandTgeneTchrTbpTstrand
In-frameENST00000312960ENST00000458385SIAH2chr3

150480220

-KIAA1430chr4

186085333

-
5CDS-intronENST00000312960ENST00000514798SIAH2chr3

150480220

-KIAA1430chr4

186085333

-
5CDS-intronENST00000312960ENST00000296775SIAH2chr3

150480220

-KIAA1430chr4

186085333

-
5CDS-intronENST00000312960ENST00000502992SIAH2chr3

150480220

-KIAA1430chr4

186085333

-
intron-3CDSENST00000472885ENST00000458385SIAH2chr3

150480220

-KIAA1430chr4

186085333

-
intron-intronENST00000472885ENST00000514798SIAH2chr3

150480220

-KIAA1430chr4

186085333

-
intron-intronENST00000472885ENST00000296775SIAH2chr3

150480220

-KIAA1430chr4

186085333

-
intron-intronENST00000472885ENST00000502992SIAH2chr3

150480220

-KIAA1430chr4

186085333

-

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FusionProtFeatures for SIAH2_KIAA1430


check buttonMain function of each fusion partner protein. (from UniProt)
HgeneTgene
SIAH2

O43255

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}.

check buttonRetention 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

download page

.

* 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.
>>>>
PartnerGeneHbpTbpENSTStrandBPexonTotalExonProtein feature loci*BPlociTotalLenProtein featureProtein feature note
HgeneSIAH2chr3:150480220chr4:186085333ENST00000312960-1280_115139325Zinc fingerRING-type
TgeneKIAA1430chr3:150480220chr4:186085333ENST00000296775-04374_450-49454Coiled coilOntology_term=ECO:0000255
TgeneKIAA1430chr3:150480220chr4:186085333ENST00000514798-04374_450-87454Coiled coilOntology_term=ECO:0000255
TgeneKIAA1430chr3:150480220chr4:186085333ENST00000296775-04170_236-49454Compositional biasNote=Ser-rich
TgeneKIAA1430chr3:150480220chr4:186085333ENST00000514798-04170_236-87454Compositional biasNote=Ser-rich

- In-frame and not-retained protein feature among the 13 regional features.
>>
PartnerGeneHbpTbpENSTStrandBPexonTotalExonProtein feature loci*BPlociTotalLenProtein featureProtein feature note
HgeneSIAH2chr3:150480220chr4:186085333ENST00000312960-12130_322139325RegionSBD
HgeneSIAH2chr3:150480220chr4:186085333ENST00000312960-12133_193139325Zinc fingerSIAH-type
TgeneKIAA1430chr3:150480220chr4:186085333ENST00000458385-25374_450440533Coiled coilOntology_term=ECO:0000255
TgeneKIAA1430chr3:150480220chr4:186085333ENST00000458385-25170_236440533Compositional biasNote=Ser-rich


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FusionGeneSequence for SIAH2_KIAA1430


check button 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


check button Go to ChiPPI (Chimeric Protein-Protein interactions) to see the chimeric PPI interaction in

ChiPPI page

.

check button Protein-protein interactors with each fusion partner protein in wild-type (BIOGRID-3.4.160)
HgeneHgene's interactorsTgeneTgene's interactors
SIAH2PEG10, 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, PRICKLE3KIAA1430


check button - Retained PPIs in in-frame fusion.
PartnerGeneHbpTbpENSTStrandBPexonTotalExonProtein feature loci*BPlociTotalLenStill interaction with


check button - Lost PPIs in in-frame fusion.
PartnerGeneHbpTbpENSTStrandBPexonTotalExonProtein feature loci*BPlociTotalLenInteraction lost with


check button - Retained PPIs, but lost function due to frame-shift fusion.
PartnerGeneHbpTbpENSTStrandBPexonTotalExonProtein feature loci*BPlociTotalLenInteraction lost with


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RelatedDrugs for SIAH2_KIAA1430


check button Drugs targeting genes involved in this fusion gene.
(DrugBank Version 5.1.0 2018-04-02)
PartnerGeneUniProtAccDrugBank IDDrug nameDrug activityDrug typeDrug status

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RelatedDiseases for SIAH2_KIAA1430


check button Diseases associated with fusion partners.
(DisGeNet 4.0)
PartnerGeneDisease IDDisease name# pubmedsSource
HgeneSIAH2C0023308Lens Diseases1CTD_human