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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: 27701

FusionGeneSummary for PLP1_MAN2A2

check button Fusion gene summary
Fusion gene informationFusion gene name: PLP1_MAN2A2
Fusion gene ID: 27701
HgeneTgene
Gene symbol

PLP1

MAN2A2

Gene ID

5354

4122

Gene nameproteolipid protein 1mannosidase alpha class 2A member 2
SynonymsGPM6C|HLD1|MMPL|PLP|PLP/DM20|PMD|SPG2MANA2X
Cytomap

Xq22.2

15q26.1

Type of geneprotein-codingprotein-coding
Descriptionmyelin proteolipid proteinlipophilinmajor myelin proteolipid proteinalpha-mannosidase 2xMAN IIxalpha-mannosidase IIxmannosidase, alpha type II-Xmannosyl-oligosaccharide 1,3-1,6-alpha-mannosidasemanosidase, alpha-, type II, isozyme X
Modification date2018052320180523
UniProtAcc

P60201

P49641

Ensembl transtripts involved in fusion geneENST00000418604, ENST00000303958, 
ENST00000361621, ENST00000466486, 
ENST00000559717, ENST00000360468, 
ENST00000431652, ENST00000430376, 
ENST00000558538, 
Fusion gene scores* DoF score4 X 4 X 2=324 X 4 X 2=32
# samples 45
** MAII scorelog2(4/32*10)=0.321928094887362
effective Gene in Pan-Cancer Fusion Genes (eGinPCFGs).
DoF>8 and MAII>0
log2(5/32*10)=0.643856189774725
effective Gene in Pan-Cancer Fusion Genes (eGinPCFGs).
DoF>8 and MAII>0
Context

PubMed: PLP1 [Title/Abstract] AND MAN2A2 [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
ChiTaRS3.1AV723721PLP1chrX

103045735

+MAN2A2chr15

91464074

+
* 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-3UTRENST00000418604ENST00000559717PLP1chrX

103045735

+MAN2A2chr15

91464074

+
3UTR-3UTRENST00000418604ENST00000360468PLP1chrX

103045735

+MAN2A2chr15

91464074

+
3UTR-intronENST00000418604ENST00000431652PLP1chrX

103045735

+MAN2A2chr15

91464074

+
3UTR-intronENST00000418604ENST00000430376PLP1chrX

103045735

+MAN2A2chr15

91464074

+
3UTR-intronENST00000418604ENST00000558538PLP1chrX

103045735

+MAN2A2chr15

91464074

+
3UTR-3UTRENST00000303958ENST00000559717PLP1chrX

103045735

+MAN2A2chr15

91464074

+
3UTR-3UTRENST00000303958ENST00000360468PLP1chrX

103045735

+MAN2A2chr15

91464074

+
3UTR-intronENST00000303958ENST00000431652PLP1chrX

103045735

+MAN2A2chr15

91464074

+
3UTR-intronENST00000303958ENST00000430376PLP1chrX

103045735

+MAN2A2chr15

91464074

+
3UTR-intronENST00000303958ENST00000558538PLP1chrX

103045735

+MAN2A2chr15

91464074

+
3UTR-3UTRENST00000361621ENST00000559717PLP1chrX

103045735

+MAN2A2chr15

91464074

+
3UTR-3UTRENST00000361621ENST00000360468PLP1chrX

103045735

+MAN2A2chr15

91464074

+
3UTR-intronENST00000361621ENST00000431652PLP1chrX

103045735

+MAN2A2chr15

91464074

+
3UTR-intronENST00000361621ENST00000430376PLP1chrX

103045735

+MAN2A2chr15

91464074

+
3UTR-intronENST00000361621ENST00000558538PLP1chrX

103045735

+MAN2A2chr15

91464074

+
intron-3UTRENST00000466486ENST00000559717PLP1chrX

103045735

+MAN2A2chr15

91464074

+
intron-3UTRENST00000466486ENST00000360468PLP1chrX

103045735

+MAN2A2chr15

91464074

+
intron-intronENST00000466486ENST00000431652PLP1chrX

103045735

+MAN2A2chr15

91464074

+
intron-intronENST00000466486ENST00000430376PLP1chrX

103045735

+MAN2A2chr15

91464074

+
intron-intronENST00000466486ENST00000558538PLP1chrX

103045735

+MAN2A2chr15

91464074

+

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FusionProtFeatures for PLP1_MAN2A2


check buttonMain function of each fusion partner protein. (from UniProt)
HgeneTgene
PLP1

P60201

MAN2A2

P49641

This is the major myelin protein from the centralnervous system. It plays an important role in the formation ormaintenance of the multilamellar structure of myelin. Catalyzes the first committed step in the biosynthesisof complex N-glycans. It controls conversion of high mannose tocomplex N-glycans; the final hydrolytic step in the N-glycanmaturation pathway.

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 PLP1_MAN2A2


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 PLP1_MAN2A2


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 PLP1_MAN2A2


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 PLP1_MAN2A2


check button Diseases associated with fusion partners.
(DisGeNet 4.0)
PartnerGeneDisease IDDisease name# pubmedsSource
HgenePLP1C0205711Pelizaeus-Merzbacher Disease31CTD_human;HPO;UNIPROT
HgenePLP1C1839264SPASTIC PARAPLEGIA 2, X-LINKED (disorder)9CTD_human;ORPHANET;UNIPROT
HgenePLP1C0036341Schizophrenia4PSYGENET
HgenePLP1C0009171Cocaine Abuse2PSYGENET
HgenePLP1C2673482Increased susceptibility to schizophrenia1PSYGENET