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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: 23165

FusionGeneSummary for MYO5A_PJA2

check button Fusion gene summary
Fusion gene informationFusion gene name: MYO5A_PJA2
Fusion gene ID: 23165
HgeneTgene
Gene symbol

MYO5A

PJA2

Gene ID

4644

9867

Gene namemyosin VApraja ring finger ubiquitin ligase 2
SynonymsGS1|MYH12|MYO5|MYR12Neurodap1|RNF131
Cytomap

15q21.2

5q21.3

Type of geneprotein-codingprotein-coding
Descriptionunconventional myosin-Vadilute myosin heavy chain, non-musclemyosin Vmyosin VA (heavy chain 12, myoxin)myosin, heavy polypeptide kinasemyosin-12myosin-VamyoxinE3 ubiquitin-protein ligase Praja-2RING-type E3 ubiquitin transferase Praja-2praja 2, RING-H2 motif containingpraja ring finger 2, E3 ubiquitin protein ligasepraja2ring finger protein 131
Modification date2018051920180523
UniProtAcc

Q9Y4I1

O43164

Ensembl transtripts involved in fusion geneENST00000399231, ENST00000356338, 
ENST00000358212, ENST00000399233, 
ENST00000553916, 
ENST00000361189, 
ENST00000361557, ENST00000511624, 
Fusion gene scores* DoF score8 X 8 X 4=2565 X 5 X 2=50
# samples 85
** MAII scorelog2(8/256*10)=-1.67807190511264
possibly effective Gene in Pan-Cancer Fusion Genes (peGinPCFGs).
DoF>8 and MAII<0
log2(5/50*10)=0
Context

PubMed: MYO5A [Title/Abstract] AND PJA2 [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
TgenePJA2

GO:0016567

protein ubiquitination

21423175


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
ChiTaRS3.1Z22957MYO5Achr15

52622637

-PJA2chr5

108674622

-
* 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-intronENST00000399231ENST00000361189MYO5Achr15

52622637

-PJA2chr5

108674622

-
intron-intronENST00000399231ENST00000361557MYO5Achr15

52622637

-PJA2chr5

108674622

-
intron-intronENST00000399231ENST00000511624MYO5Achr15

52622637

-PJA2chr5

108674622

-
intron-intronENST00000356338ENST00000361189MYO5Achr15

52622637

-PJA2chr5

108674622

-
intron-intronENST00000356338ENST00000361557MYO5Achr15

52622637

-PJA2chr5

108674622

-
intron-intronENST00000356338ENST00000511624MYO5Achr15

52622637

-PJA2chr5

108674622

-
intron-intronENST00000358212ENST00000361189MYO5Achr15

52622637

-PJA2chr5

108674622

-
intron-intronENST00000358212ENST00000361557MYO5Achr15

52622637

-PJA2chr5

108674622

-
intron-intronENST00000358212ENST00000511624MYO5Achr15

52622637

-PJA2chr5

108674622

-
intron-intronENST00000399233ENST00000361189MYO5Achr15

52622637

-PJA2chr5

108674622

-
intron-intronENST00000399233ENST00000361557MYO5Achr15

52622637

-PJA2chr5

108674622

-
intron-intronENST00000399233ENST00000511624MYO5Achr15

52622637

-PJA2chr5

108674622

-
intron-intronENST00000553916ENST00000361189MYO5Achr15

52622637

-PJA2chr5

108674622

-
intron-intronENST00000553916ENST00000361557MYO5Achr15

52622637

-PJA2chr5

108674622

-
intron-intronENST00000553916ENST00000511624MYO5Achr15

52622637

-PJA2chr5

108674622

-

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FusionProtFeatures for MYO5A_PJA2


check buttonMain function of each fusion partner protein. (from UniProt)
HgeneTgene
MYO5A

Q9Y4I1

PJA2

O43164

Processive actin-based motor that can move in largesteps approximating the 36-nm pseudo-repeat of the actin filament.Involved in melanosome transport. Also mediates the transport ofvesicles to the plasma membrane. May also be required for somepolarization process involved in dendrite formation.{ECO:0000269|PubMed:10448864}. Has E2-dependent E3 ubiquitin-protein ligase activity.Responsible for ubiquitination of cAMP-dependent protein kinasetype I and type II-alpha/beta regulatory subunits and fortargeting them for proteasomal degradation. Essential for PKA-mediated long-term memory processes. Through the ubiquitination ofMFHAS1, positively regulates the TLR2 signaling pathway that leadsto the activation of the downstream p38 and JNK MAP kinases andpromotes the polarization of macrophages toward the pro-inflammatory M1 phenotype (PubMed:28471450).{ECO:0000269|PubMed:12036302, ECO:0000269|PubMed:21423175,ECO:0000269|PubMed:28471450}.

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 MYO5A_PJA2


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 MYO5A_PJA2


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 MYO5A_PJA2


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 MYO5A_PJA2


check button Diseases associated with fusion partners.
(DisGeNet 4.0)
PartnerGeneDisease IDDisease name# pubmedsSource
HgeneMYO5AC0023893Liver Cirrhosis, Experimental1CTD_human
HgeneMYO5AC0031117Peripheral Neuropathy1CTD_human