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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: 27799

FusionGeneSummary for PMP22_PMP22

check button Fusion gene summary
Fusion gene informationFusion gene name: PMP22_PMP22
Fusion gene ID: 27799
HgeneTgene
Gene symbol

PMP22

PMP22

Gene ID

5376

5376

Gene nameperipheral myelin protein 22peripheral myelin protein 22
SynonymsCIDP|CMT1A|CMT1E|DSS|GAS-3|GAS3|HMSNIA|HNPP|Sp110CIDP|CMT1A|CMT1E|DSS|GAS-3|GAS3|HMSNIA|HNPP|Sp110
Cytomap

17p12

17p12

Type of geneprotein-codingprotein-coding
Descriptionperipheral myelin protein 22growth arrest-specific protein 3peripheral myelin protein 22 kDaperipheral myelin protein 22growth arrest-specific protein 3peripheral myelin protein 22 kDa
Modification date2018052320180523
UniProtAcc

Q01453

Q01453

Ensembl transtripts involved in fusion geneENST00000395938, ENST00000312280, 
ENST00000494511, ENST00000395936, 
ENST00000426385, 		ENST00000395938, 
ENST00000312280, ENST00000494511, 
ENST00000395936, ENST00000426385, 
Fusion gene scores* DoF score3 X 3 X 2=185 X 5 X 2=50
# samples 35
** MAII scorelog2(3/18*10)=0.736965594166206
effective Gene in Pan-Cancer Fusion Genes (eGinPCFGs).
DoF>8 and MAII>0		log2(5/50*10)=0
Context

PubMed: PMP22 [Title/Abstract] AND PMP22 [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
HgenePMP22

GO:0008219

cell death

12107182

HgenePMP22

GO:0032060

bleb assembly

12107182

TgenePMP22

GO:0008219

cell death

12107182

TgenePMP22

GO:0032060

bleb assembly

12107182


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
ChiTaRS3.1BX381404PMP22chr17

15133528

+PMP22chr17

15133578

-
* 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-3UTRENST00000395938ENST00000395938PMP22chr17

15133528

+PMP22chr17

15133578

-
intron-3UTRENST00000395938ENST00000312280PMP22chr17

15133528

+PMP22chr17

15133578

-
intron-intronENST00000395938ENST00000494511PMP22chr17

15133528

+PMP22chr17

15133578

-
intron-intronENST00000395938ENST00000395936PMP22chr17

15133528

+PMP22chr17

15133578

-
intron-intronENST00000395938ENST00000426385PMP22chr17

15133528

+PMP22chr17

15133578

-
intron-3UTRENST00000312280ENST00000395938PMP22chr17

15133528

+PMP22chr17

15133578

-
intron-3UTRENST00000312280ENST00000312280PMP22chr17

15133528

+PMP22chr17

15133578

-
intron-intronENST00000312280ENST00000494511PMP22chr17

15133528

+PMP22chr17

15133578

-
intron-intronENST00000312280ENST00000395936PMP22chr17

15133528

+PMP22chr17

15133578

-
intron-intronENST00000312280ENST00000426385PMP22chr17

15133528

+PMP22chr17

15133578

-
intron-3UTRENST00000494511ENST00000395938PMP22chr17

15133528

+PMP22chr17

15133578

-
intron-3UTRENST00000494511ENST00000312280PMP22chr17

15133528

+PMP22chr17

15133578

-
intron-intronENST00000494511ENST00000494511PMP22chr17

15133528

+PMP22chr17

15133578

-
intron-intronENST00000494511ENST00000395936PMP22chr17

15133528

+PMP22chr17

15133578

-
intron-intronENST00000494511ENST00000426385PMP22chr17

15133528

+PMP22chr17

15133578

-
intron-3UTRENST00000395936ENST00000395938PMP22chr17

15133528

+PMP22chr17

15133578

-
intron-3UTRENST00000395936ENST00000312280PMP22chr17

15133528

+PMP22chr17

15133578

-
intron-intronENST00000395936ENST00000494511PMP22chr17

15133528

+PMP22chr17

15133578

-
intron-intronENST00000395936ENST00000395936PMP22chr17

15133528

+PMP22chr17

15133578

-
intron-intronENST00000395936ENST00000426385PMP22chr17

15133528

+PMP22chr17

15133578

-
intron-3UTRENST00000426385ENST00000395938PMP22chr17

15133528

+PMP22chr17

15133578

-
intron-3UTRENST00000426385ENST00000312280PMP22chr17

15133528

+PMP22chr17

15133578

-
intron-intronENST00000426385ENST00000494511PMP22chr17

15133528

+PMP22chr17

15133578

-
intron-intronENST00000426385ENST00000395936PMP22chr17

15133528

+PMP22chr17

15133578

-
intron-intronENST00000426385ENST00000426385PMP22chr17

15133528

+PMP22chr17

15133578

-

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FusionProtFeatures for PMP22_PMP22


check buttonMain function of each fusion partner protein. (from UniProt)
HgeneTgene
PMP22

Q01453

PMP22

Q01453

Might be involved in growth regulation, and inmyelinization in the peripheral nervous system. Might be involved in growth regulation, and inmyelinization in the peripheral nervous system.

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 PMP22_PMP22


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 PMP22_PMP22


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


Top

RelatedDrugs for PMP22_PMP22


check button Drugs targeting genes involved in this fusion gene.
(DrugBank Version 5.1.0 2018-04-02)
PartnerGeneUniProtAccDrugBank IDDrug nameDrug activityDrug typeDrug status

Top

RelatedDiseases for PMP22_PMP22


check button Diseases associated with fusion partners.
(DisGeNet 4.0)
PartnerGeneDisease IDDisease name# pubmedsSource
HgenePMP22C0011195Dejerine-Sottas Disease (disorder)18ORPHANET;UNIPROT
HgenePMP22C0270911Charcot-Marie-Tooth Disease, Type Ia (disorder)14ORPHANET;UNIPROT
HgenePMP22C0007959Charcot-Marie-Tooth Disease3CTD_human
HgenePMP22C0393814Hereditary liability to pressure palsies3CTD_human;ORPHANET;UNIPROT
HgenePMP22C3495591Charcot-Marie-Tooth Disease, Demyelinating, Type 1e3CTD_human;UNIPROT
HgenePMP22C0031117Peripheral Neuropathy2CTD_human
HgenePMP22C0008073Developmental Disabilities1CTD_human
HgenePMP22C0011303Demyelinating Diseases1CTD_human
HgenePMP22C0014550Epilepsies, Myoclonic1CTD_human
HgenePMP22C0027888Hereditary Motor and Sensory Neuropathies1CTD_human
HgenePMP22C0030554Paresthesia1CTD_human;HPO
HgenePMP22C0034372Quadriplegia1CTD_human
HgenePMP22C0034933Reflex, Abnormal1CTD_human
HgenePMP22C0151786Muscle Weakness1CTD_human;HPO
TgenePMP22C0011195Dejerine-Sottas Disease (disorder)18ORPHANET;UNIPROT
TgenePMP22C0270911Charcot-Marie-Tooth Disease, Type Ia (disorder)14ORPHANET;UNIPROT
TgenePMP22C0007959Charcot-Marie-Tooth Disease3CTD_human
TgenePMP22C0393814Hereditary liability to pressure palsies3CTD_human;ORPHANET;UNIPROT
TgenePMP22C3495591Charcot-Marie-Tooth Disease, Demyelinating, Type 1e3CTD_human;UNIPROT
TgenePMP22C0031117Peripheral Neuropathy2CTD_human
TgenePMP22C0008073Developmental Disabilities1CTD_human
TgenePMP22C0011303Demyelinating Diseases1CTD_human
TgenePMP22C0014550Epilepsies, Myoclonic1CTD_human
TgenePMP22C0027888Hereditary Motor and Sensory Neuropathies1CTD_human
TgenePMP22C0030554Paresthesia1CTD_human;HPO
TgenePMP22C0034372Quadriplegia1CTD_human
TgenePMP22C0034933Reflex, Abnormal1CTD_human
TgenePMP22C0151786Muscle Weakness1CTD_human;HPO