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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: 12204

FusionGeneSummary for EVC2_STK32B

check button Fusion gene summary
Fusion gene informationFusion gene name: EVC2_STK32B
Fusion gene ID: 12204
HgeneTgene
Gene symbol

EVC2

STK32B

Gene ID

132884

55351

Gene nameEvC ciliary complex subunit 2serine/threonine kinase 32B
SynonymsLBN|WADHSA250839|STK32|STKG6|YANK2
Cytomap

4p16.2

4p16.2

Type of geneprotein-codingprotein-coding
DescriptionlimbinEllis van Creveld syndrome 2ellis-van Creveld syndrome protein 2serine/threonine-protein kinase 32Bgene for serine/threonine protein kinaseyet another novel kinase 2
Modification date2018051920180523
UniProtAcc

Q86UK5

Q9NY57

Ensembl transtripts involved in fusion geneENST00000344938, ENST00000344408, 
ENST00000310917, 
ENST00000282908, 
ENST00000512636, ENST00000510398, 
ENST00000508728, 
Fusion gene scores* DoF score4 X 4 X 3=482 X 2 X 2=8
# samples 42
** MAII scorelog2(4/48*10)=-0.263034405833794
possibly effective Gene in Pan-Cancer Fusion Genes (peGinPCFGs).
DoF>8 and MAII<0
log2(2/8*10)=1.32192809488736
Context

PubMed: EVC2 [Title/Abstract] AND STK32B [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
TCGALDSKCMTCGA-BF-A3DM-01AEVC2chr4

5642249

-STK32Bchr4

5141632

+
* 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
intron-3CDSENST00000344938ENST00000282908EVC2chr4

5642249

-STK32Bchr4

5141632

+
intron-5UTRENST00000344938ENST00000512636EVC2chr4

5642249

-STK32Bchr4

5141632

+
intron-5UTRENST00000344938ENST00000510398EVC2chr4

5642249

-STK32Bchr4

5141632

+
intron-intronENST00000344938ENST00000508728EVC2chr4

5642249

-STK32Bchr4

5141632

+
intron-3CDSENST00000344408ENST00000282908EVC2chr4

5642249

-STK32Bchr4

5141632

+
intron-5UTRENST00000344408ENST00000512636EVC2chr4

5642249

-STK32Bchr4

5141632

+
intron-5UTRENST00000344408ENST00000510398EVC2chr4

5642249

-STK32Bchr4

5141632

+
intron-intronENST00000344408ENST00000508728EVC2chr4

5642249

-STK32Bchr4

5141632

+
intron-3CDSENST00000310917ENST00000282908EVC2chr4

5642249

-STK32Bchr4

5141632

+
intron-5UTRENST00000310917ENST00000512636EVC2chr4

5642249

-STK32Bchr4

5141632

+
intron-5UTRENST00000310917ENST00000510398EVC2chr4

5642249

-STK32Bchr4

5141632

+
intron-intronENST00000310917ENST00000508728EVC2chr4

5642249

-STK32Bchr4

5141632

+

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FusionProtFeatures for EVC2_STK32B


check buttonMain function of each fusion partner protein. (from UniProt)
HgeneTgene
EVC2

Q86UK5

STK32B

Q9NY57

Component of the EvC complex that positively regulatesciliary Hedgehog (Hh) signaling. Plays a critical role in boneformation and skeletal development. May be involved in earlyembryonic morphogenesis. {ECO:0000250|UniProtKB:Q8K1G2}.

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 EVC2_STK32B


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 EVC2_STK32B


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
EVC2BANF1, SMAD9, ACBD3, ACSL3, AHCY, ALDH3A2, ANKLE2, ATP6AP1, ATP6AP2, BAG2, BCAP31, THEM6, CAMLG, CCDC47, CDKAL1, CKAP4, DDRGK1, DHRS7, EMD, ESYT1, FNDC3A, GLMN, HMOX2, JPH1, LBR, MAGT1, MLXIPL, MOGS, NSDHL, NUDC, NUDCD2, NUDCD3, PGRMC2, PLD3, POR, PREB, RABL3, RPN1, SCFD1, SEC11A, SEC24B, SEC63, SLC33A1, SMPD4, SOAT1, SPCS2, SPCS3, SRPR, SRPRB, STIM1, STT3B, STX5, TMEM199, TMEM57, TMX1, TOR1AIP1, TRIM13, EMC2, UBXN4, VANGL1, VEZT, VMA21, VRK2, ACTR2, CDC37, CLCC1, CYP51A1, DNAJC7, FKBP8, GRM5, GYS1, HSPBP1, ISOC1, LMBR1L, NUP155, PTPN1, ST7, STIP1, STUB1, SUGT1, NDC1, TTC1, UBE2J1, UNC45A, YWHAHSTK32BHSP90AA1


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 EVC2_STK32B


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 EVC2_STK32B


check button Diseases associated with fusion partners.
(DisGeNet 4.0)
PartnerGeneDisease IDDisease name# pubmedsSource
HgeneEVC2C0013903Ellis-Van Creveld Syndrome2CTD_human;ORPHANET;UNIPROT