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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: 29643

FusionGeneSummary for PTTG1IP_PLP1

check button Fusion gene summary
Fusion gene informationFusion gene name: PTTG1IP_PLP1
Fusion gene ID: 29643
HgeneTgene
Gene symbol

PTTG1IP

PLP1

Gene ID

754

5354

Gene namePTTG1 interacting proteinproteolipid protein 1
SynonymsC21orf1|C21orf3|PBFGPM6C|HLD1|MMPL|PLP|PLP/DM20|PMD|SPG2
Cytomap

21q22.3

Xq22.2

Type of geneprotein-codingprotein-coding
Descriptionpituitary tumor-transforming gene 1 protein-interacting proteinPTTG-binding factorpituitary tumor-transforming 1 interacting proteinpituitary tumor-transforming gene protein-binding factormyelin proteolipid proteinlipophilinmajor myelin proteolipid protein
Modification date2018052320180523
UniProtAcc

P53801

P60201

Ensembl transtripts involved in fusion geneENST00000397887, ENST00000330938, 
ENST00000445724, ENST00000397886, 
ENST00000494690, 		ENST00000418604, 
ENST00000303958, ENST00000361621, 
ENST00000466486, 
Fusion gene scores* DoF score10 X 12 X 3=3609 X 8 X 2=144
# samples 149
** MAII scorelog2(14/360*10)=-1.36257007938471
possibly effective Gene in Pan-Cancer Fusion Genes (peGinPCFGs).
DoF>8 and MAII<0		log2(9/144*10)=-0.678071905112638
possibly effective Gene in Pan-Cancer Fusion Genes (peGinPCFGs).
DoF>8 and MAII<0
Context

PubMed: PTTG1IP [Title/Abstract] AND PLP1 [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
HgenePTTG1IP

GO:0006606

protein import into nucleus

10781616

HgenePTTG1IP

GO:0031398

positive regulation of protein ubiquitination

24506068

HgenePTTG1IP

GO:1903364

positive regulation of cellular protein catabolic process

24506068


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
ChiTaRS3.1DA415824PTTG1IPchr21

46284813

-PLP1chrX

103031845

+
* 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
intron-5UTRENST00000397887ENST00000418604PTTG1IPchr21

46284813

-PLP1chrX

103031845

+
intron-5UTRENST00000397887ENST00000303958PTTG1IPchr21

46284813

-PLP1chrX

103031845

+
intron-5UTRENST00000397887ENST00000361621PTTG1IPchr21

46284813

-PLP1chrX

103031845

+
intron-intronENST00000397887ENST00000466486PTTG1IPchr21

46284813

-PLP1chrX

103031845

+
intron-5UTRENST00000330938ENST00000418604PTTG1IPchr21

46284813

-PLP1chrX

103031845

+
intron-5UTRENST00000330938ENST00000303958PTTG1IPchr21

46284813

-PLP1chrX

103031845

+
intron-5UTRENST00000330938ENST00000361621PTTG1IPchr21

46284813

-PLP1chrX

103031845

+
intron-intronENST00000330938ENST00000466486PTTG1IPchr21

46284813

-PLP1chrX

103031845

+
intron-5UTRENST00000445724ENST00000418604PTTG1IPchr21

46284813

-PLP1chrX

103031845

+
intron-5UTRENST00000445724ENST00000303958PTTG1IPchr21

46284813

-PLP1chrX

103031845

+
intron-5UTRENST00000445724ENST00000361621PTTG1IPchr21

46284813

-PLP1chrX

103031845

+
intron-intronENST00000445724ENST00000466486PTTG1IPchr21

46284813

-PLP1chrX

103031845

+
intron-5UTRENST00000397886ENST00000418604PTTG1IPchr21

46284813

-PLP1chrX

103031845

+
intron-5UTRENST00000397886ENST00000303958PTTG1IPchr21

46284813

-PLP1chrX

103031845

+
intron-5UTRENST00000397886ENST00000361621PTTG1IPchr21

46284813

-PLP1chrX

103031845

+
intron-intronENST00000397886ENST00000466486PTTG1IPchr21

46284813

-PLP1chrX

103031845

+
intron-5UTRENST00000494690ENST00000418604PTTG1IPchr21

46284813

-PLP1chrX

103031845

+
intron-5UTRENST00000494690ENST00000303958PTTG1IPchr21

46284813

-PLP1chrX

103031845

+
intron-5UTRENST00000494690ENST00000361621PTTG1IPchr21

46284813

-PLP1chrX

103031845

+
intron-intronENST00000494690ENST00000466486PTTG1IPchr21

46284813

-PLP1chrX

103031845

+

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FusionProtFeatures for PTTG1IP_PLP1


check buttonMain function of each fusion partner protein. (from UniProt)
HgeneTgene
PTTG1IP

P53801

PLP1

P60201

May facilitate PTTG1 nuclear translocation. 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.

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 PTTG1IP_PLP1


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 PTTG1IP_PLP1


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 PTTG1IP_PLP1


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 PTTG1IP_PLP1


check button Diseases associated with fusion partners.
(DisGeNet 4.0)
PartnerGeneDisease IDDisease name# pubmedsSource
TgenePLP1C0205711Pelizaeus-Merzbacher Disease31CTD_human;HPO;UNIPROT
TgenePLP1C1839264SPASTIC PARAPLEGIA 2, X-LINKED (disorder)9CTD_human;ORPHANET;UNIPROT
TgenePLP1C0036341Schizophrenia4PSYGENET
TgenePLP1C0009171Cocaine Abuse2PSYGENET
TgenePLP1C2673482Increased susceptibility to schizophrenia1PSYGENET