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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: 22410

FusionGeneSummary for MPZL1_RCSD1

check button Fusion gene summary
Fusion gene informationFusion gene name: MPZL1_RCSD1
Fusion gene ID: 22410
HgeneTgene
Gene symbol

MPZL1

RCSD1

Gene ID

9019

92241

Gene namemyelin protein zero like 1RCSD domain containing 1
SynonymsMPZL1b|PZR|PZR1b|PZRa|PZRbCAPZIP|MK2S4
Cytomap

1q24.2

1q24.2

Type of geneprotein-codingprotein-coding
Descriptionmyelin protein zero-like protein 1immunoglobulin family transmembrane proteinprotein zero relatedcapZ-interacting proteinRCSD domain-containing protein 1protein kinase substrate CapZIPprotein kinase substrate MK2S4
Modification date2018051920180519
UniProtAcc

O95297

Q6JBY9

Ensembl transtripts involved in fusion geneENST00000359523, ENST00000392121, 
ENST00000474859, ENST00000403379, 
ENST00000367854, ENST00000537350, 
ENST00000472038, 
Fusion gene scores* DoF score6 X 4 X 5=1204 X 3 X 4=48
# samples 64
** MAII scorelog2(6/120*10)=-1
possibly effective Gene in Pan-Cancer Fusion Genes (peGinPCFGs).
DoF>8 and MAII<0		log2(4/48*10)=-0.263034405833794
possibly effective Gene in Pan-Cancer Fusion Genes (peGinPCFGs).
DoF>8 and MAII<0
Context

PubMed: MPZL1 [Title/Abstract] AND RCSD1 [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
TgeneRCSD1

GO:0071474

cellular hyperosmotic response

15850461


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
TCGALDBLCATCGA-G2-A3VY-01AMPZL1chr1

167691479

+RCSD1chr1

167673901

+
* 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
In-frameENST00000359523ENST00000367854MPZL1chr1

167691479

+RCSD1chr1

167673901

+
Frame-shiftENST00000359523ENST00000537350MPZL1chr1

167691479

+RCSD1chr1

167673901

+
5CDS-intronENST00000359523ENST00000472038MPZL1chr1

167691479

+RCSD1chr1

167673901

+
In-frameENST00000392121ENST00000367854MPZL1chr1

167691479

+RCSD1chr1

167673901

+
Frame-shiftENST00000392121ENST00000537350MPZL1chr1

167691479

+RCSD1chr1

167673901

+
5CDS-intronENST00000392121ENST00000472038MPZL1chr1

167691479

+RCSD1chr1

167673901

+
In-frameENST00000474859ENST00000367854MPZL1chr1

167691479

+RCSD1chr1

167673901

+
Frame-shiftENST00000474859ENST00000537350MPZL1chr1

167691479

+RCSD1chr1

167673901

+
5CDS-intronENST00000474859ENST00000472038MPZL1chr1

167691479

+RCSD1chr1

167673901

+
intron-3CDSENST00000403379ENST00000367854MPZL1chr1

167691479

+RCSD1chr1

167673901

+
intron-3CDSENST00000403379ENST00000537350MPZL1chr1

167691479

+RCSD1chr1

167673901

+
intron-intronENST00000403379ENST00000472038MPZL1chr1

167691479

+RCSD1chr1

167673901

+

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FusionProtFeatures for MPZL1_RCSD1


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

O95297

RCSD1

Q6JBY9

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}. Stress-induced phosphorylation of CAPZIP may regulatethe ability of F-actin-capping protein to remodel actin filamentassembly. {ECO:0000269|PubMed:15850461}.

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
HgeneMPZL1chr1:167691479chr1:167673901ENST00000359523+1636_14630270DomainNote=Ig-like V-type
HgeneMPZL1chr1:167691479chr1:167673901ENST00000392121+1336_14630120DomainNote=Ig-like V-type
HgeneMPZL1chr1:167691479chr1:167673901ENST00000474859+1536_14630210DomainNote=Ig-like V-type
HgeneMPZL1chr1:167691479chr1:167673901ENST00000359523+16239_24430270MotifNote=ITIM motif 1
HgeneMPZL1chr1:167691479chr1:167673901ENST00000359523+16261_26630270MotifNote=ITIM motif 2
HgeneMPZL1chr1:167691479chr1:167673901ENST00000392121+13239_24430120MotifNote=ITIM motif 1
HgeneMPZL1chr1:167691479chr1:167673901ENST00000392121+13261_26630120MotifNote=ITIM motif 2
HgeneMPZL1chr1:167691479chr1:167673901ENST00000474859+15239_24430210MotifNote=ITIM motif 1
HgeneMPZL1chr1:167691479chr1:167673901ENST00000474859+15261_26630210MotifNote=ITIM motif 2
HgeneMPZL1chr1:167691479chr1:167673901ENST00000359523+16184_26930270Topological domainCytoplasmic
HgeneMPZL1chr1:167691479chr1:167673901ENST00000359523+1636_16230270Topological domainExtracellular
HgeneMPZL1chr1:167691479chr1:167673901ENST00000392121+13184_26930120Topological domainCytoplasmic
HgeneMPZL1chr1:167691479chr1:167673901ENST00000392121+1336_16230120Topological domainExtracellular
HgeneMPZL1chr1:167691479chr1:167673901ENST00000474859+15184_26930210Topological domainCytoplasmic
HgeneMPZL1chr1:167691479chr1:167673901ENST00000474859+1536_16230210Topological domainExtracellular
HgeneMPZL1chr1:167691479chr1:167673901ENST00000359523+16163_18330270TransmembraneHelical
HgeneMPZL1chr1:167691479chr1:167673901ENST00000392121+13163_18330120TransmembraneHelical
HgeneMPZL1chr1:167691479chr1:167673901ENST00000474859+15163_18330210TransmembraneHelical
TgeneRCSD1chr1:167691479chr1:167673901ENST00000367854+57227_330406417DomainNote=RCSD


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FusionGeneSequence for MPZL1_RCSD1


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_RCSD1


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, HSPA8RCSD1MAPKAPK2, MAPKAPK3, MAPK12, CAPZA1, CAPZA2, CAPZB


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_RCSD1


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_RCSD1


check button Diseases associated with fusion partners.
(DisGeNet 4.0)
PartnerGeneDisease IDDisease name# pubmedsSource
HgeneMPZL1C0024667Animal Mammary Neoplasms1CTD_human
HgeneMPZL1C0024668Mammary Neoplasms, Experimental1CTD_human
HgeneMPZL1C0036341Schizophrenia1PSYGENET
TgeneRCSD1C0023893Liver Cirrhosis, Experimental1CTD_human