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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: 26605

FusionGeneSummary for PDZD4_MTCP1

check button Fusion gene summary
Fusion gene informationFusion gene name: PDZD4_MTCP1
Fusion gene ID: 26605
HgeneTgene
Gene symbol

PDZD4

MTCP1

Gene ID

57595

100272147

Gene namePDZ domain containing 4C-X9-C motif containing 4
SynonymsLNX5|LU1|PDZK4|PDZRN4LC6.1B|MTCP1|MTCP1B|MTCP1NB|p8|p8MTCP1
Cytomap

Xq28

Xq28

Type of geneprotein-codingprotein-coding
DescriptionPDZ domain-containing protein 4PDZ domain-containing RING finger protein 4-like proteincx9C motif-containing protein 4C-x(9)-C motif containing 4 homologMTCP-1 type Amature T-cell proliferation 1mature T-cell proliferation 1 neighbor proteinmature T-cell proliferation-1 type Aprotein p8 MTCP-1
Modification date2018052320180523
UniProtAcc

Q76G19

P56278

Ensembl transtripts involved in fusion geneENST00000164640, ENST00000393758, 
ENST00000544474, ENST00000475140, 
ENST00000369476, ENST00000482244, 
ENST00000362018, 
Fusion gene scores* DoF score2 X 1 X 1=23 X 1 X 3=9
# samples 13
** MAII scorelog2(1/2*10)=2.32192809488736log2(3/9*10)=1.73696559416621
effective Gene in Pan-Cancer Fusion Genes (eGinPCFGs).
DoF>8 and MAII>0
Context

PubMed: PDZD4 [Title/Abstract] AND MTCP1 [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
TCGALDSARCTCGA-DX-A8BK-01APDZD4chrX

153095694

-MTCP1chrX

154292308

-
* 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-intronENST00000164640ENST00000369476PDZD4chrX

153095694

-MTCP1chrX

154292308

-
5CDS-intronENST00000164640ENST00000482244PDZD4chrX

153095694

-MTCP1chrX

154292308

-
5CDS-intronENST00000164640ENST00000362018PDZD4chrX

153095694

-MTCP1chrX

154292308

-
intron-intronENST00000393758ENST00000369476PDZD4chrX

153095694

-MTCP1chrX

154292308

-
intron-intronENST00000393758ENST00000482244PDZD4chrX

153095694

-MTCP1chrX

154292308

-
intron-intronENST00000393758ENST00000362018PDZD4chrX

153095694

-MTCP1chrX

154292308

-
5CDS-intronENST00000544474ENST00000369476PDZD4chrX

153095694

-MTCP1chrX

154292308

-
5CDS-intronENST00000544474ENST00000482244PDZD4chrX

153095694

-MTCP1chrX

154292308

-
5CDS-intronENST00000544474ENST00000362018PDZD4chrX

153095694

-MTCP1chrX

154292308

-
intron-intronENST00000475140ENST00000369476PDZD4chrX

153095694

-MTCP1chrX

154292308

-
intron-intronENST00000475140ENST00000482244PDZD4chrX

153095694

-MTCP1chrX

154292308

-
intron-intronENST00000475140ENST00000362018PDZD4chrX

153095694

-MTCP1chrX

154292308

-

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FusionProtFeatures for PDZD4_MTCP1


check buttonMain function of each fusion partner protein. (from UniProt)
HgeneTgene
PDZD4

Q76G19

MTCP1

P56278

Enhances the phosphorylation and activation of AKT1 andAKT2. {ECO:0000269|PubMed:10983986}.

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 PDZD4_MTCP1


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 PDZD4_MTCP1


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
PDZD4GFI1B, APP, APIPMTCP1EWSR1, AKT1, AKT2, ELAVL1, APP


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 PDZD4_MTCP1


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 PDZD4_MTCP1


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