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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: 7103

FusionGeneSummary for CHMP2A_SH3PXD2A

check button Fusion gene summary
Fusion gene informationFusion gene name: CHMP2A_SH3PXD2A
Fusion gene ID: 7103
HgeneTgene
Gene symbol

CHMP2A

SH3PXD2A

Gene ID

27243

9644

Gene namecharged multivesicular body protein 2ASH3 and PX domains 2A
SynonymsBC-2|BC2|CHMP2|VPS2|VPS2AFISH|SH3MD1|TKS5
Cytomap

19q13.43

10q24.33

Type of geneprotein-codingprotein-coding
Descriptioncharged multivesicular body protein 2aVPS2 homolog Achromatin modifying protein 2Aputative breast adenocarcinoma marker (32kD)putative breast adenocarcinoma marker BC-2vacuolar protein sorting-associated protein 2-1vps2-1SH3 and PX domain-containing protein 2ASH3 multiple domains 1adapter protein TKS5adaptor protein TKS5five SH3 domain-containing proteintyrosine kinase substrate with five SH3 domains
Modification date2018052320180523
UniProtAcc

O43633

Q5TCZ1

Ensembl transtripts involved in fusion geneENST00000600118, ENST00000601220, 
ENST00000312547, 
ENST00000427662, 
ENST00000369774, ENST00000355946, 
ENST00000315994, ENST00000540321, 
ENST00000538130, 
Fusion gene scores* DoF score1 X 1 X 1=110 X 11 X 4=440
# samples 111
** MAII scorelog2(1/1*10)=3.32192809488736log2(11/440*10)=-2
possibly effective Gene in Pan-Cancer Fusion Genes (peGinPCFGs).
DoF>8 and MAII<0
Context

PubMed: CHMP2A [Title/Abstract] AND SH3PXD2A [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
HgeneCHMP2A

GO:0039702

viral budding via host ESCRT complex

24878737

TgeneSH3PXD2A

GO:0006801

superoxide metabolic process

19755710


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
ChiTaRS3.1BF815097CHMP2Achr19

59063444

+SH3PXD2Achr10

105574240

-
* 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-intronENST00000600118ENST00000427662CHMP2Achr19

59063444

+SH3PXD2Achr10

105574240

-
intron-intronENST00000600118ENST00000369774CHMP2Achr19

59063444

+SH3PXD2Achr10

105574240

-
intron-intronENST00000600118ENST00000355946CHMP2Achr19

59063444

+SH3PXD2Achr10

105574240

-
intron-intronENST00000600118ENST00000315994CHMP2Achr19

59063444

+SH3PXD2Achr10

105574240

-
intron-intronENST00000600118ENST00000540321CHMP2Achr19

59063444

+SH3PXD2Achr10

105574240

-
intron-intronENST00000600118ENST00000538130CHMP2Achr19

59063444

+SH3PXD2Achr10

105574240

-
intron-intronENST00000601220ENST00000427662CHMP2Achr19

59063444

+SH3PXD2Achr10

105574240

-
intron-intronENST00000601220ENST00000369774CHMP2Achr19

59063444

+SH3PXD2Achr10

105574240

-
intron-intronENST00000601220ENST00000355946CHMP2Achr19

59063444

+SH3PXD2Achr10

105574240

-
intron-intronENST00000601220ENST00000315994CHMP2Achr19

59063444

+SH3PXD2Achr10

105574240

-
intron-intronENST00000601220ENST00000540321CHMP2Achr19

59063444

+SH3PXD2Achr10

105574240

-
intron-intronENST00000601220ENST00000538130CHMP2Achr19

59063444

+SH3PXD2Achr10

105574240

-
intron-intronENST00000312547ENST00000427662CHMP2Achr19

59063444

+SH3PXD2Achr10

105574240

-
intron-intronENST00000312547ENST00000369774CHMP2Achr19

59063444

+SH3PXD2Achr10

105574240

-
intron-intronENST00000312547ENST00000355946CHMP2Achr19

59063444

+SH3PXD2Achr10

105574240

-
intron-intronENST00000312547ENST00000315994CHMP2Achr19

59063444

+SH3PXD2Achr10

105574240

-
intron-intronENST00000312547ENST00000540321CHMP2Achr19

59063444

+SH3PXD2Achr10

105574240

-
intron-intronENST00000312547ENST00000538130CHMP2Achr19

59063444

+SH3PXD2Achr10

105574240

-

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FusionProtFeatures for CHMP2A_SH3PXD2A


check buttonMain function of each fusion partner protein. (from UniProt)
HgeneTgene
CHMP2A

O43633

SH3PXD2A

Q5TCZ1

Probable core component of the endosomal sortingrequired for transport complex III (ESCRT-III) which is involvedin multivesicular bodies (MVBs) formation and sorting of endosomalcargo proteins into MVBs. MVBs contain intraluminal vesicles(ILVs) that are generated by invagination and scission from thelimiting membrane of the endosome and mostly are delivered tolysosomes enabling degradation of membrane proteins, such asstimulated growth factor receptors, lysosomal enzymes and lipids.The MVB pathway appears to require the sequential function ofESCRT-O, -I,-II and -III complexes. ESCRT-III proteins mostlydissociate from the invaginating membrane before the ILV isreleased. The ESCRT machinery also functions in topologicallyequivalent membrane fission events, such as the terminal stages ofcytokinesis (PubMed:21310966). Together with SPAST, the ESCRT-IIIcomplex promotes nuclear envelope sealing and mitotic spindledisassembly during late anaphase (PubMed:26040712). ESCRT-IIIproteins are believed to mediate the necessary vesicle extrusionand/or membrane fission activities, possibly in conjunction withthe AAA ATPase VPS4. {ECO:0000269|PubMed:21310966,ECO:0000269|PubMed:26040712, ECO:0000305}. (Microbial infection) The ESCRT machinery functions intopologically equivalent membrane fission events, such as thebudding of enveloped viruses (HIV-1 and other lentiviruses).Involved in HIV-1 p6- and p9-dependent virus release.{ECO:0000269|PubMed:14505570, ECO:0000269|PubMed:14519844}. Adapter protein involved in invadopodia and podosomeformation, extracellular matrix degradation and invasiveness ofsome cancer cells. Binds matrix metalloproteinases (ADAMs), NADPHoxidases (NOXs) and phosphoinositides. Acts as an organizerprotein that allows NOX1- or NOX3-dependent reactive oxygenspecies (ROS) generation and ROS localization. In association withADAM12, mediates the neurotoxic effect of amyloid-beta peptide.{ECO:0000269|PubMed:12615925, ECO:0000269|PubMed:15710328,ECO:0000269|PubMed:15710903, ECO:0000269|PubMed:19755710,ECO:0000269|PubMed:20609497}.

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 CHMP2A_SH3PXD2A


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 CHMP2A_SH3PXD2A


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 CHMP2A_SH3PXD2A


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 CHMP2A_SH3PXD2A


check button Diseases associated with fusion partners.
(DisGeNet 4.0)
PartnerGeneDisease IDDisease name# pubmedsSource
TgeneSH3PXD2AC0036341Schizophrenia1PSYGENET