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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: 12412

FusionGeneSummary for FABP4_PMP22

check button Fusion gene summary
Fusion gene informationFusion gene name: FABP4_PMP22
Fusion gene ID: 12412
HgeneTgene
Gene symbol

FABP4

PMP22

Gene ID

2167

5376

Gene namefatty acid binding protein 4peripheral myelin protein 22
SynonymsA-FABP|AFABP|ALBP|HEL-S-104|aP2CIDP|CMT1A|CMT1E|DSS|GAS-3|GAS3|HMSNIA|HNPP|Sp110
Cytomap

8q21.13

17p12

Type of geneprotein-codingprotein-coding
Descriptionfatty acid-binding protein, adipocyteadipocyte fatty acid binding proteinadipocyte lipid-binding proteinadipocyte-type fatty acid-binding proteinepididymis secretory protein Li 104fatty acid binding protein 4, adipocyteperipheral myelin protein 22growth arrest-specific protein 3peripheral myelin protein 22 kDa
Modification date2018052720180523
UniProtAcc

P15090

Q01453

Ensembl transtripts involved in fusion geneENST00000256104, ENST00000518669, 
ENST00000395938, ENST00000312280, 
ENST00000494511, ENST00000395936, 
ENST00000426385, 
Fusion gene scores* DoF score2 X 2 X 1=45 X 5 X 2=50
# samples 25
** MAII scorelog2(2/4*10)=2.32192809488736log2(5/50*10)=0
Context

PubMed: FABP4 [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
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
ChiTaRS3.1BP317019FABP4chr8

82391673

-PMP22chr17

15143852

-
* 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-intronENST00000256104ENST00000395938FABP4chr8

82391673

-PMP22chr17

15143852

-
intron-intronENST00000256104ENST00000312280FABP4chr8

82391673

-PMP22chr17

15143852

-
intron-intronENST00000256104ENST00000494511FABP4chr8

82391673

-PMP22chr17

15143852

-
intron-intronENST00000256104ENST00000395936FABP4chr8

82391673

-PMP22chr17

15143852

-
intron-intronENST00000256104ENST00000426385FABP4chr8

82391673

-PMP22chr17

15143852

-
intron-intronENST00000518669ENST00000395938FABP4chr8

82391673

-PMP22chr17

15143852

-
intron-intronENST00000518669ENST00000312280FABP4chr8

82391673

-PMP22chr17

15143852

-
intron-intronENST00000518669ENST00000494511FABP4chr8

82391673

-PMP22chr17

15143852

-
intron-intronENST00000518669ENST00000395936FABP4chr8

82391673

-PMP22chr17

15143852

-
intron-intronENST00000518669ENST00000426385FABP4chr8

82391673

-PMP22chr17

15143852

-

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FusionProtFeatures for FABP4_PMP22


check buttonMain function of each fusion partner protein. (from UniProt)
HgeneTgene
FABP4

P15090

PMP22

Q01453

Lipid transport protein in adipocytes. Binds both longchain fatty acids and retinoic acid. Delivers long-chain fattyacids and retinoic acid to their cognate receptors in the nucleus.{ECO:0000250|UniProtKB:P04117}. 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 FABP4_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 FABP4_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


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RelatedDrugs for FABP4_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

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RelatedDiseases for FABP4_PMP22


check button Diseases associated with fusion partners.
(DisGeNet 4.0)
PartnerGeneDisease IDDisease name# pubmedsSource
HgeneFABP4C0011616Contact Dermatitis1CTD_human
HgeneFABP4C0024667Animal Mammary Neoplasms1CTD_human
HgeneFABP4C0024668Mammary Neoplasms, Experimental1CTD_human
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