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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: 29368

FusionGeneSummary for PTK7_KLHDC3

check button Fusion gene summary
Fusion gene informationFusion gene name: PTK7_KLHDC3
Fusion gene ID: 29368
HgeneTgene
Gene symbol

PTK7

KLHDC3

Gene ID

5754

116138

Gene nameprotein tyrosine kinase 7 (inactive)kelch domain containing 3
SynonymsCCK-4|CCK4PEAS|dJ20C7.3
Cytomap

6p21.1

6p21.1

Type of geneprotein-codingprotein-coding
Descriptioninactive tyrosine-protein kinase 7PTK7 protein tyrosine kinase 7colon carcinoma kinase 4pseudo tyrosine kinase receptor 7tyrosine-protein kinase-like 7kelch domain-containing protein 3testis intracellular mediator protein
Modification date2018052320180523
UniProtAcc

Q13308

Q9BQ90

Ensembl transtripts involved in fusion geneENST00000230419, ENST00000349241, 
ENST00000345201, ENST00000352931, 
ENST00000481273, ENST00000476760, 
ENST00000471863, 
ENST00000326974, 
ENST00000244670, ENST00000332245, 
Fusion gene scores* DoF score10 X 3 X 10=3003 X 4 X 2=24
# samples 104
** MAII scorelog2(10/300*10)=-1.58496250072116
possibly effective Gene in Pan-Cancer Fusion Genes (peGinPCFGs).
DoF>8 and MAII<0
log2(4/24*10)=0.736965594166206
effective Gene in Pan-Cancer Fusion Genes (eGinPCFGs).
DoF>8 and MAII>0
Context

PubMed: PTK7 [Title/Abstract] AND KLHDC3 [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
TCGALDOVTCGA-29-1694-01APTK7chr6

43044305

+KLHDC3chr6

42984872

+
* 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
5CDS-5UTRENST00000230419ENST00000326974PTK7chr6

43044305

+KLHDC3chr6

42984872

+
5CDS-5UTRENST00000230419ENST00000244670PTK7chr6

43044305

+KLHDC3chr6

42984872

+
5CDS-5UTRENST00000230419ENST00000332245PTK7chr6

43044305

+KLHDC3chr6

42984872

+
5CDS-5UTRENST00000349241ENST00000326974PTK7chr6

43044305

+KLHDC3chr6

42984872

+
5CDS-5UTRENST00000349241ENST00000244670PTK7chr6

43044305

+KLHDC3chr6

42984872

+
5CDS-5UTRENST00000349241ENST00000332245PTK7chr6

43044305

+KLHDC3chr6

42984872

+
5CDS-5UTRENST00000345201ENST00000326974PTK7chr6

43044305

+KLHDC3chr6

42984872

+
5CDS-5UTRENST00000345201ENST00000244670PTK7chr6

43044305

+KLHDC3chr6

42984872

+
5CDS-5UTRENST00000345201ENST00000332245PTK7chr6

43044305

+KLHDC3chr6

42984872

+
5CDS-5UTRENST00000352931ENST00000326974PTK7chr6

43044305

+KLHDC3chr6

42984872

+
5CDS-5UTRENST00000352931ENST00000244670PTK7chr6

43044305

+KLHDC3chr6

42984872

+
5CDS-5UTRENST00000352931ENST00000332245PTK7chr6

43044305

+KLHDC3chr6

42984872

+
intron-5UTRENST00000481273ENST00000326974PTK7chr6

43044305

+KLHDC3chr6

42984872

+
intron-5UTRENST00000481273ENST00000244670PTK7chr6

43044305

+KLHDC3chr6

42984872

+
intron-5UTRENST00000481273ENST00000332245PTK7chr6

43044305

+KLHDC3chr6

42984872

+
5CDS-5UTRENST00000476760ENST00000326974PTK7chr6

43044305

+KLHDC3chr6

42984872

+
5CDS-5UTRENST00000476760ENST00000244670PTK7chr6

43044305

+KLHDC3chr6

42984872

+
5CDS-5UTRENST00000476760ENST00000332245PTK7chr6

43044305

+KLHDC3chr6

42984872

+
5CDS-5UTRENST00000471863ENST00000326974PTK7chr6

43044305

+KLHDC3chr6

42984872

+
5CDS-5UTRENST00000471863ENST00000244670PTK7chr6

43044305

+KLHDC3chr6

42984872

+
5CDS-5UTRENST00000471863ENST00000332245PTK7chr6

43044305

+KLHDC3chr6

42984872

+

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FusionProtFeatures for PTK7_KLHDC3


check buttonMain function of each fusion partner protein. (from UniProt)
HgeneTgene
PTK7

Q13308

KLHDC3

Q9BQ90

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 PTK7_KLHDC3


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 PTK7_KLHDC3


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
PTK7RYK, TSHR, CEACAM21, ATP1B4, BTNL8, NTRK1, PPM1G, CLNK, TMEM17, PPP3CA, PPP3CB, PPM1A, PPM1B, PPM1F, PPM1K, ILKAP, CTDSP2, PTPRR, PTPN6, PTPN7, PTPN11, PTPN12, DUSP10, DUSP14, DUSP15, DUSP18, DUSP19, DUSP21, DUSP26, DUPD1, STYX, CDC14A, PTEN, TPTE, TPTE2, MTMR1, MTMR6, MTMR9, MTMR10KLHDC3DLG3, UBXN7, CUL2, TCEB2, TCEB1, CUL5, CSNK1E, ENO1, MOV10, NXF1, EAF1, SKAP1, COPS2, RPP25L, COPS6, BRAP, DPYSL5, NEDD8, USP10, NUDCD3, TSPYL4, DPYSL2, FOXK1, MOCS1, C3orf33, SYMPK, DIDO1, POP7, VSIG4, XPO1, LUZP1, GLMN, RPS6KA4, MISP, CLASP2, MLLT4, HMCES, CDH19, EIF4ENIF1, RAD18, RPL15, IKZF1, DAPK3, ARIH1, PIP5K1A, G3BP2, WDR55, FBXL5, TBL1X, CRTAC1, LCOR, DPYSL4, TRIM25


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 PTK7_KLHDC3


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 PTK7_KLHDC3


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