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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: 18885

FusionGeneSummary for KIF2A_RNF180

check button Fusion gene summary
Fusion gene informationFusion gene name: KIF2A_RNF180
Fusion gene ID: 18885
HgeneTgene
Gene symbol

KIF2A

RNF180

Gene ID

3796

285671

Gene namekinesin family member 2Aring finger protein 180
SynonymsCDCBM3|HK2|KIF2RINES
Cytomap

5q12.1

5q12.3

Type of geneprotein-codingprotein-coding
Descriptionkinesin-like protein KIF2AKinesin, heavy chain, 2kinesin heavy chain member 2Akinesin-2E3 ubiquitin-protein ligase RNF180RING-type E3 ubiquitin transferase RNF180
Modification date2018052320180523
UniProtAcc

O00139

Q86T96

Ensembl transtripts involved in fusion geneENST00000401507, ENST00000509663, 
ENST00000381103, ENST00000407818, 
ENST00000506857, 
ENST00000389100, 
ENST00000296615, ENST00000381081, 
Fusion gene scores* DoF score2 X 1 X 2=45 X 4 X 4=80
# samples 25
** MAII scorelog2(2/4*10)=2.32192809488736log2(5/80*10)=-0.678071905112638
possibly effective Gene in Pan-Cancer Fusion Genes (peGinPCFGs).
DoF>8 and MAII<0
Context

PubMed: KIF2A [Title/Abstract] AND RNF180 [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
HgeneKIF2A

GO:0007052

mitotic spindle organization

18411309


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
TCGARVPRADTCGA-J9-A52D-01AKIF2Achr5

61602363

+RNF180chr5

63665442

+
* 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
Frame-shiftENST00000401507ENST00000389100KIF2Achr5

61602363

+RNF180chr5

63665442

+
5CDS-intronENST00000401507ENST00000296615KIF2Achr5

61602363

+RNF180chr5

63665442

+
5CDS-intronENST00000401507ENST00000381081KIF2Achr5

61602363

+RNF180chr5

63665442

+
3UTR-3CDSENST00000509663ENST00000389100KIF2Achr5

61602363

+RNF180chr5

63665442

+
3UTR-intronENST00000509663ENST00000296615KIF2Achr5

61602363

+RNF180chr5

63665442

+
3UTR-intronENST00000509663ENST00000381081KIF2Achr5

61602363

+RNF180chr5

63665442

+
5UTR-3CDSENST00000381103ENST00000389100KIF2Achr5

61602363

+RNF180chr5

63665442

+
5UTR-intronENST00000381103ENST00000296615KIF2Achr5

61602363

+RNF180chr5

63665442

+
5UTR-intronENST00000381103ENST00000381081KIF2Achr5

61602363

+RNF180chr5

63665442

+
Frame-shiftENST00000407818ENST00000389100KIF2Achr5

61602363

+RNF180chr5

63665442

+
5CDS-intronENST00000407818ENST00000296615KIF2Achr5

61602363

+RNF180chr5

63665442

+
5CDS-intronENST00000407818ENST00000381081KIF2Achr5

61602363

+RNF180chr5

63665442

+
intron-3CDSENST00000506857ENST00000389100KIF2Achr5

61602363

+RNF180chr5

63665442

+
intron-intronENST00000506857ENST00000296615KIF2Achr5

61602363

+RNF180chr5

63665442

+
intron-intronENST00000506857ENST00000381081KIF2Achr5

61602363

+RNF180chr5

63665442

+

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FusionProtFeatures for KIF2A_RNF180


check buttonMain function of each fusion partner protein. (from UniProt)
HgeneTgene
KIF2A

O00139

RNF180

Q86T96

Plus end-directed microtubule-dependent motor requiredfor normal brain development. May regulate microtubule dynamicsduring axonal growth. Required for normal progression throughmitosis. Required for normal congress of chromosomes at themetaphase plate. Required for normal spindle dynamics duringmitosis. Promotes spindle turnover. Implicated in formation ofbipolar mitotic spindles. Has microtubule depolymerizationactivity. {ECO:0000269|PubMed:15843429,ECO:0000269|PubMed:17538014, ECO:0000269|PubMed:18411309}. E3 ubiquitin-protein ligase which promotespolyubiquitination and degradation by the proteasome pathway ofZIC2. {ECO:0000250|UniProtKB:Q3U827}.

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

- In-frame and not-retained protein feature among the 13 regional features.
PartnerGeneHbpTbpENSTStrandBPexonTotalExonProtein feature loci*BPlociTotalLenProtein featureProtein feature note


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FusionGeneSequence for KIF2A_RNF180


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.

* Fusion transcript sequences (only coding sequence (CDS) region).

* Fusion transcript sequences (Full-length transcript).

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FusionGenePPI for KIF2A_RNF180


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
KIF2AHDGF, NOTCH1, HIST3H3, STK4, WWOX, KIF2A, LARP1B, MRPL53, FAM13C, OBSL1, TSNAX, RPS6KB2, CHM, WBSCR22, NTRK1, EWSR1, PLK4, RPGRIP1L, CEP170, SPICE1, DCTN1, ACADVL, ALDH7A1, CSNK1E, GNS, ILK, TTK, KIF2C, LTN1, SKA1, MTRR, NFKBIL1, PRKCA, ROBO2, TIAL1, BAG6, UBL4A, EIF3F, TRAP1, CELF1, TRIOBP, EXOC3, MTF2, KIAA0556, ATP5S, UBR5, GET4, CEP192, WDR35, TMPRSS3, ZMYM1, SLC35E1, C2orf44, FIP1L1, CD99L2, GADD45GIP1, CEP170B, PES1, TP53, TYW3, RHPN1, KBTBD7, FGB, PTPN14RNF180ZIC2, LYN


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 KIF2A_RNF180


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 KIF2A_RNF180


check button Diseases associated with fusion partners.
(DisGeNet 4.0)
PartnerGeneDisease IDDisease name# pubmedsSource
HgeneKIF2AC0025958Microcephaly1CTD_human
HgeneKIF2AC0036341Schizophrenia1PSYGENET
HgeneKIF2AC1955869Malformations of Cortical Development1CTD_human
HgeneKIF2AC3809414CORTICAL DYSPLASIA, COMPLEX, WITH OTHER BRAIN MALFORMATIONS 31UNIPROT