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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: 19002

FusionGeneSummary for KLHDC3_CTNND2

check button Fusion gene summary
Fusion gene informationFusion gene name: KLHDC3_CTNND2
Fusion gene ID: 19002
HgeneTgene
Gene symbol

KLHDC3

CTNND2

Gene ID

116138

1501

Gene namekelch domain containing 3catenin delta 2
SynonymsPEAS|dJ20C7.3GT24|NPRAP
Cytomap

6p21.1

5p15.2

Type of geneprotein-codingprotein-coding
Descriptionkelch domain-containing protein 3testis intracellular mediator proteincatenin delta-2T-cell delta-catenincatenin (cadherin-associated protein), delta 2 (neural plakophilin-related arm-repeat protein)neurojungin
Modification date2018052320180523
UniProtAcc

Q9BQ90

Q9UQB3

Ensembl transtripts involved in fusion geneENST00000326974, ENST00000244670, 
ENST00000332245, 		ENST00000304623, 
ENST00000359640, ENST00000511377, 
ENST00000458100, ENST00000503622, 
ENST00000495388, 
Fusion gene scores* DoF score3 X 4 X 1=1212 X 8 X 8=768
# samples 412
** MAII scorelog2(4/12*10)=1.73696559416621
effective Gene in Pan-Cancer Fusion Genes (eGinPCFGs).
DoF>8 and MAII>0		log2(12/768*10)=-2.67807190511264
possibly effective Gene in Pan-Cancer Fusion Genes (peGinPCFGs).
DoF>8 and MAII<0
Context

PubMed: KLHDC3 [Title/Abstract] AND CTNND2 [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
ChiTaRS3.1BI520168KLHDC3chr6

42989028

+CTNND2chr5

11094615

-
* 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
3UTR-intronENST00000326974ENST00000304623KLHDC3chr6

42989028

+CTNND2chr5

11094615

-
3UTR-intronENST00000326974ENST00000359640KLHDC3chr6

42989028

+CTNND2chr5

11094615

-
3UTR-intronENST00000326974ENST00000511377KLHDC3chr6

42989028

+CTNND2chr5

11094615

-
3UTR-intronENST00000326974ENST00000458100KLHDC3chr6

42989028

+CTNND2chr5

11094615

-
3UTR-intronENST00000326974ENST00000503622KLHDC3chr6

42989028

+CTNND2chr5

11094615

-
3UTR-intronENST00000326974ENST00000495388KLHDC3chr6

42989028

+CTNND2chr5

11094615

-
5CDS-intronENST00000244670ENST00000304623KLHDC3chr6

42989028

+CTNND2chr5

11094615

-
5CDS-intronENST00000244670ENST00000359640KLHDC3chr6

42989028

+CTNND2chr5

11094615

-
5CDS-intronENST00000244670ENST00000511377KLHDC3chr6

42989028

+CTNND2chr5

11094615

-
5CDS-intronENST00000244670ENST00000458100KLHDC3chr6

42989028

+CTNND2chr5

11094615

-
5CDS-intronENST00000244670ENST00000503622KLHDC3chr6

42989028

+CTNND2chr5

11094615

-
5CDS-intronENST00000244670ENST00000495388KLHDC3chr6

42989028

+CTNND2chr5

11094615

-
5CDS-intronENST00000332245ENST00000304623KLHDC3chr6

42989028

+CTNND2chr5

11094615

-
5CDS-intronENST00000332245ENST00000359640KLHDC3chr6

42989028

+CTNND2chr5

11094615

-
5CDS-intronENST00000332245ENST00000511377KLHDC3chr6

42989028

+CTNND2chr5

11094615

-
5CDS-intronENST00000332245ENST00000458100KLHDC3chr6

42989028

+CTNND2chr5

11094615

-
5CDS-intronENST00000332245ENST00000503622KLHDC3chr6

42989028

+CTNND2chr5

11094615

-
5CDS-intronENST00000332245ENST00000495388KLHDC3chr6

42989028

+CTNND2chr5

11094615

-

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FusionProtFeatures for KLHDC3_CTNND2


check buttonMain function of each fusion partner protein. (from UniProt)
HgeneTgene
KLHDC3

Q9BQ90

CTNND2

Q9UQB3

May be involved in meiotic recombination process.

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 KLHDC3_CTNND2


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 KLHDC3_CTNND2


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


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 KLHDC3_CTNND2


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 KLHDC3_CTNND2


check button Diseases associated with fusion partners.
(DisGeNet 4.0)
PartnerGeneDisease IDDisease name# pubmedsSource
TgeneCTNND2C0005586Bipolar Disorder1PSYGENET
TgeneCTNND2C0007621Neoplastic Cell Transformation1CTD_human
TgeneCTNND2C0017636Glioblastoma1CTD_human
TgeneCTNND2C0036341Schizophrenia1PSYGENET
TgeneCTNND2C0041696Unipolar Depression1PSYGENET
TgeneCTNND2C1269683Major Depressive Disorder1PSYGENET