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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: 22409

FusionGeneSummary for MPZL1_PDE4DIP

check button Fusion gene summary
Fusion gene informationFusion gene name: MPZL1_PDE4DIP
Fusion gene ID: 22409
HgeneTgene
Gene symbol

MPZL1

PDE4DIP

Gene ID

9019

9659

Gene namemyelin protein zero like 1phosphodiesterase 4D interacting protein
SynonymsMPZL1b|PZR|PZR1b|PZRa|PZRbCMYA2|MMGL
Cytomap

1q24.2

1q21.2

Type of geneprotein-codingprotein-coding
Descriptionmyelin protein zero-like protein 1immunoglobulin family transmembrane proteinprotein zero relatedmyomegalincardiomyopathy-associated protein 2myomegalin/phosphodiesterase 4D interacting protein variant 8
Modification date2018051920180523
UniProtAcc

O95297

Q5VU43

Ensembl transtripts involved in fusion geneENST00000359523, ENST00000392121, 
ENST00000474859, ENST00000403379, 
ENST00000313382, ENST00000369354, 
ENST00000369356, ENST00000530740, 
ENST00000369359, ENST00000369351, 
ENST00000369349, ENST00000369347, 
ENST00000369348, ENST00000524974, 
ENST00000313431, ENST00000529945, 
ENST00000479408, ENST00000493130, 
ENST00000478649, ENST00000369345, 
Fusion gene scores* DoF score6 X 4 X 5=1205 X 4 X 3=60
# samples 65
** MAII scorelog2(6/120*10)=-1
possibly effective Gene in Pan-Cancer Fusion Genes (peGinPCFGs).
DoF>8 and MAII<0		log2(5/60*10)=-0.263034405833794
possibly effective Gene in Pan-Cancer Fusion Genes (peGinPCFGs).
DoF>8 and MAII<0
Context

PubMed: MPZL1 [Title/Abstract] AND PDE4DIP [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
TgenePDE4DIP

GO:1903358

regulation of Golgi organization

27666745


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
TCGARVBRCATCGA-A2-A1FW-01AMPZL1chr1

167691479

+PDE4DIPchr1

144946742

-
* 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-shitENST00000359523ENST00000313382MPZL1chr1

167691479

+PDE4DIPchr1

144946742

-
Frame-shitENST00000359523ENST00000369354MPZL1chr1

167691479

+PDE4DIPchr1

144946742

-
Frame-shitENST00000359523ENST00000369356MPZL1chr1

167691479

+PDE4DIPchr1

144946742

-
Frame-shitENST00000359523ENST00000530740MPZL1chr1

167691479

+PDE4DIPchr1

144946742

-
Frame-shitENST00000359523ENST00000369359MPZL1chr1

167691479

+PDE4DIPchr1

144946742

-
Frame-shitENST00000359523ENST00000369351MPZL1chr1

167691479

+PDE4DIPchr1

144946742

-
Frame-shitENST00000359523ENST00000369349MPZL1chr1

167691479

+PDE4DIPchr1

144946742

-
5CDS-intronENST00000359523ENST00000369347MPZL1chr1

167691479

+PDE4DIPchr1

144946742

-
5CDS-intronENST00000359523ENST00000369348MPZL1chr1

167691479

+PDE4DIPchr1

144946742

-
5CDS-intronENST00000359523ENST00000524974MPZL1chr1

167691479

+PDE4DIPchr1

144946742

-
5CDS-intronENST00000359523ENST00000313431MPZL1chr1

167691479

+PDE4DIPchr1

144946742

-
5CDS-intronENST00000359523ENST00000529945MPZL1chr1

167691479

+PDE4DIPchr1

144946742

-
5CDS-intronENST00000359523ENST00000479408MPZL1chr1

167691479

+PDE4DIPchr1

144946742

-
5CDS-intronENST00000359523ENST00000493130MPZL1chr1

167691479

+PDE4DIPchr1

144946742

-
5CDS-intronENST00000359523ENST00000478649MPZL1chr1

167691479

+PDE4DIPchr1

144946742

-
5CDS-intronENST00000359523ENST00000369345MPZL1chr1

167691479

+PDE4DIPchr1

144946742

-
Frame-shitENST00000392121ENST00000313382MPZL1chr1

167691479

+PDE4DIPchr1

144946742

-
Frame-shitENST00000392121ENST00000369354MPZL1chr1

167691479

+PDE4DIPchr1

144946742

-
Frame-shitENST00000392121ENST00000369356MPZL1chr1

167691479

+PDE4DIPchr1

144946742

-
Frame-shitENST00000392121ENST00000530740MPZL1chr1

167691479

+PDE4DIPchr1

144946742

-
Frame-shitENST00000392121ENST00000369359MPZL1chr1

167691479

+PDE4DIPchr1

144946742

-
Frame-shitENST00000392121ENST00000369351MPZL1chr1

167691479

+PDE4DIPchr1

144946742

-
Frame-shitENST00000392121ENST00000369349MPZL1chr1

167691479

+PDE4DIPchr1

144946742

-
5CDS-intronENST00000392121ENST00000369347MPZL1chr1

167691479

+PDE4DIPchr1

144946742

-
5CDS-intronENST00000392121ENST00000369348MPZL1chr1

167691479

+PDE4DIPchr1

144946742

-
5CDS-intronENST00000392121ENST00000524974MPZL1chr1

167691479

+PDE4DIPchr1

144946742

-
5CDS-intronENST00000392121ENST00000313431MPZL1chr1

167691479

+PDE4DIPchr1

144946742

-
5CDS-intronENST00000392121ENST00000529945MPZL1chr1

167691479

+PDE4DIPchr1

144946742

-
5CDS-intronENST00000392121ENST00000479408MPZL1chr1

167691479

+PDE4DIPchr1

144946742

-
5CDS-intronENST00000392121ENST00000493130MPZL1chr1

167691479

+PDE4DIPchr1

144946742

-
5CDS-intronENST00000392121ENST00000478649MPZL1chr1

167691479

+PDE4DIPchr1

144946742

-
5CDS-intronENST00000392121ENST00000369345MPZL1chr1

167691479

+PDE4DIPchr1

144946742

-
Frame-shitENST00000474859ENST00000313382MPZL1chr1

167691479

+PDE4DIPchr1

144946742

-
Frame-shitENST00000474859ENST00000369354MPZL1chr1

167691479

+PDE4DIPchr1

144946742

-
Frame-shitENST00000474859ENST00000369356MPZL1chr1

167691479

+PDE4DIPchr1

144946742

-
Frame-shitENST00000474859ENST00000530740MPZL1chr1

167691479

+PDE4DIPchr1

144946742

-
Frame-shitENST00000474859ENST00000369359MPZL1chr1

167691479

+PDE4DIPchr1

144946742

-
Frame-shitENST00000474859ENST00000369351MPZL1chr1

167691479

+PDE4DIPchr1

144946742

-
Frame-shitENST00000474859ENST00000369349MPZL1chr1

167691479

+PDE4DIPchr1

144946742

-
5CDS-intronENST00000474859ENST00000369347MPZL1chr1

167691479

+PDE4DIPchr1

144946742

-
5CDS-intronENST00000474859ENST00000369348MPZL1chr1

167691479

+PDE4DIPchr1

144946742

-
5CDS-intronENST00000474859ENST00000524974MPZL1chr1

167691479

+PDE4DIPchr1

144946742

-
5CDS-intronENST00000474859ENST00000313431MPZL1chr1

167691479

+PDE4DIPchr1

144946742

-
5CDS-intronENST00000474859ENST00000529945MPZL1chr1

167691479

+PDE4DIPchr1

144946742

-
5CDS-intronENST00000474859ENST00000479408MPZL1chr1

167691479

+PDE4DIPchr1

144946742

-
5CDS-intronENST00000474859ENST00000493130MPZL1chr1

167691479

+PDE4DIPchr1

144946742

-
5CDS-intronENST00000474859ENST00000478649MPZL1chr1

167691479

+PDE4DIPchr1

144946742

-
5CDS-intronENST00000474859ENST00000369345MPZL1chr1

167691479

+PDE4DIPchr1

144946742

-
intron-3CDSENST00000403379ENST00000313382MPZL1chr1

167691479

+PDE4DIPchr1

144946742

-
intron-3CDSENST00000403379ENST00000369354MPZL1chr1

167691479

+PDE4DIPchr1

144946742

-
intron-3CDSENST00000403379ENST00000369356MPZL1chr1

167691479

+PDE4DIPchr1

144946742

-
intron-3CDSENST00000403379ENST00000530740MPZL1chr1

167691479

+PDE4DIPchr1

144946742

-
intron-3CDSENST00000403379ENST00000369359MPZL1chr1

167691479

+PDE4DIPchr1

144946742

-
intron-3CDSENST00000403379ENST00000369351MPZL1chr1

167691479

+PDE4DIPchr1

144946742

-
intron-3CDSENST00000403379ENST00000369349MPZL1chr1

167691479

+PDE4DIPchr1

144946742

-
intron-intronENST00000403379ENST00000369347MPZL1chr1

167691479

+PDE4DIPchr1

144946742

-
intron-intronENST00000403379ENST00000369348MPZL1chr1

167691479

+PDE4DIPchr1

144946742

-
intron-intronENST00000403379ENST00000524974MPZL1chr1

167691479

+PDE4DIPchr1

144946742

-
intron-intronENST00000403379ENST00000313431MPZL1chr1

167691479

+PDE4DIPchr1

144946742

-
intron-intronENST00000403379ENST00000529945MPZL1chr1

167691479

+PDE4DIPchr1

144946742

-
intron-intronENST00000403379ENST00000479408MPZL1chr1

167691479

+PDE4DIPchr1

144946742

-
intron-intronENST00000403379ENST00000493130MPZL1chr1

167691479

+PDE4DIPchr1

144946742

-
intron-intronENST00000403379ENST00000478649MPZL1chr1

167691479

+PDE4DIPchr1

144946742

-
intron-intronENST00000403379ENST00000369345MPZL1chr1

167691479

+PDE4DIPchr1

144946742

-

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FusionProtFeatures for MPZL1_PDE4DIP


check buttonMain function of each fusion partner protein. (from UniProt)
HgeneTgene
MPZL1

O95297

PDE4DIP

Q5VU43

Cell surface receptor, which is involved in signaltransduction processes. Recruits PTPN11/SHP-2 to the cell membraneand is a putative substrate of PTPN11/SHP-2. Is a major receptorfor concanavalin-A (ConA) and is involved in cellular signalinginduced by ConA, which probably includes Src family tyrosine-protein kinases. Isoform 3 seems to have a dominant negative role;it blocks tyrosine phosphorylation of MPZL1 induced by ConA.Isoform 1, but not isoform 2 and isoform 3, may be involved inregulation of integrin-mediated cell motility.{ECO:0000269|PubMed:11751924, ECO:0000269|PubMed:12410637}.

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 MPZL1_PDE4DIP


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 MPZL1_PDE4DIP


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
MPZL1PTPN11, SRC, ELAVL1, EXOSC4, FHL3, CCDC8, LGALS3, HCCS, SPACA1, LGALS9, NOXRED1, SLC39A4, LIPF, STAT3, DOK7, TMEM17, CRKL, BAIAP2, MYO5C, PAPD5, KIF7, CDH1, CTDSPL, IFIH1, SIGLECL1, TMEM30B, FTO, IPPK, CPA2, TMEM65, TMEM206, CYP2S1, CPA5, FCGRT, MED21, TRPC4AP, VAC14, ACTBL2, GGT7, SFTPC, VIPR1, ALDH1A2, CBWD1, POLA2, TMPRSS11B, HSPA8PDE4DIPPDE4D, CDC5L, TNIK, OSGEP, GADD45G, NEK2, SNCA, FES, TK1, FHL1, CDKN1A, LAMTOR3, KRAS, SMN1, IMMT, PFDN1, ITSN2, ELAVL1, TRAF4, PRNP, GFI1B, ZNF512B, USO1, KRT18, PIAS4, ADH1B, KDM1A, PRKACA, PRKACB, ANKRD11, ARNT2, BYSL, KRT31, NEFL, SDCBP, ZSCAN26, NAA10, LMO4, UTP14C, FCHSD2, MAPRE1, MTUS2, TFIP11, PRPF31, ZNF581, CHCHD3, C1orf109, C14orf105, C19orf66, VAC14, MIF4GD, CCDC146, SH2D4A, AEN, SCNM1, ZFYVE21, LENG1, ZNF408, FAM161A, KLC4, HAUS1, KLC3, PPP1R18, ZBTB38, RTP5, GOLGA8EP, FAM74A4, GOLGA8F, RNF2, MLF1, CEP170, PRKAR2B, SCCPDH, TEAD4, DYNLL1, PDE4DIP, PM20D1, A2ML1, AKAP9, FAM129B, CSNK1D, PRKACG, LCN2, CD207, CSNK1E, IVL, NDRG1, IGHG1, IGHG2, EVPL, ANXA8, C3, CRABP2, TYMP, DNAJC10, CCDC6, CDK5RAP2, ALDH1A3, ZNF785, RAB25, GATM, SERPINB4, S100A7, CALML3, MAPRE3, ACADVL, IGKC, PKP3, C1orf87, AKR1B10, PPL, S100A9, JUP, TGM1, LGALS7B, POF1B, SERPINB5, CST6, GM2A, ARF6, HMGCS2, GDPD3, NCCRP1, SERPINB3, CALML5, CYLD


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 MPZL1_PDE4DIP


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 MPZL1_PDE4DIP


check button Diseases associated with fusion partners.
(DisGeNet 4.0)
PartnerGeneDisease IDDisease name# pubmedsSource
HgeneMPZL1C0024667Animal Mammary Neoplasms1CTD_human
HgeneMPZL1C0024668Mammary Neoplasms, Experimental1CTD_human
HgeneMPZL1C0036341Schizophrenia1PSYGENET