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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: 876

FusionGeneSummary for ADD3_SYNPO2

check button Fusion gene summary
Fusion gene informationFusion gene name: ADD3_SYNPO2
Fusion gene ID: 876
HgeneTgene
Gene symbol

ADD3

SYNPO2

Gene ID

120

171024

Gene nameadducin 3synaptopodin 2
SynonymsADDL|CPSQ3-
Cytomap

10q25.1-q25.2

4q26

Type of geneprotein-codingprotein-coding
Descriptiongamma-adducinadducin 3 (gamma)adducin-like protein 70synaptopodin-2genethonin-2myopodin
Modification date2018052320180523
UniProtAcc

Q9UEY8

Q9UMS6

Ensembl transtripts involved in fusion geneENST00000360162, ENST00000356080, 
ENST00000277900, ENST00000497125, 
ENST00000307142, ENST00000448416, 
ENST00000429713, ENST00000434046, 
Fusion gene scores* DoF score3 X 3 X 2=187 X 6 X 3=126
# samples 38
** MAII scorelog2(3/18*10)=0.736965594166206
effective Gene in Pan-Cancer Fusion Genes (eGinPCFGs).
DoF>8 and MAII>0
log2(8/126*10)=-0.655351828612554
possibly effective Gene in Pan-Cancer Fusion Genes (peGinPCFGs).
DoF>8 and MAII<0
Context

PubMed: ADD3 [Title/Abstract] AND SYNPO2 [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

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
ChiTaRS3.1CB998857ADD3chr10

111881888

+SYNPO2chr4

119980868

+
* 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
5CDS-3UTRENST00000360162ENST00000307142ADD3chr10

111881888

+SYNPO2chr4

119980868

+
5CDS-intronENST00000360162ENST00000448416ADD3chr10

111881888

+SYNPO2chr4

119980868

+
5CDS-intronENST00000360162ENST00000429713ADD3chr10

111881888

+SYNPO2chr4

119980868

+
5CDS-intronENST00000360162ENST00000434046ADD3chr10

111881888

+SYNPO2chr4

119980868

+
5CDS-3UTRENST00000356080ENST00000307142ADD3chr10

111881888

+SYNPO2chr4

119980868

+
5CDS-intronENST00000356080ENST00000448416ADD3chr10

111881888

+SYNPO2chr4

119980868

+
5CDS-intronENST00000356080ENST00000429713ADD3chr10

111881888

+SYNPO2chr4

119980868

+
5CDS-intronENST00000356080ENST00000434046ADD3chr10

111881888

+SYNPO2chr4

119980868

+
5CDS-3UTRENST00000277900ENST00000307142ADD3chr10

111881888

+SYNPO2chr4

119980868

+
5CDS-intronENST00000277900ENST00000448416ADD3chr10

111881888

+SYNPO2chr4

119980868

+
5CDS-intronENST00000277900ENST00000429713ADD3chr10

111881888

+SYNPO2chr4

119980868

+
5CDS-intronENST00000277900ENST00000434046ADD3chr10

111881888

+SYNPO2chr4

119980868

+
intron-3UTRENST00000497125ENST00000307142ADD3chr10

111881888

+SYNPO2chr4

119980868

+
intron-intronENST00000497125ENST00000448416ADD3chr10

111881888

+SYNPO2chr4

119980868

+
intron-intronENST00000497125ENST00000429713ADD3chr10

111881888

+SYNPO2chr4

119980868

+
intron-intronENST00000497125ENST00000434046ADD3chr10

111881888

+SYNPO2chr4

119980868

+

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FusionProtFeatures for ADD3_SYNPO2


check buttonMain function of each fusion partner protein. (from UniProt)
HgeneTgene
ADD3

Q9UEY8

SYNPO2

Q9UMS6

Membrane-cytoskeleton-associated protein that promotesthe assembly of the spectrin-actin network. Plays a role in actinfilament capping (PubMed:23836506). Binds to calmodulin.{ECO:0000269|PubMed:23836506}. Has an actin-binding and actin-bundling activity. Caninduce the formation of F-actin networks in an isoform-specificmanner (PubMed:24005909, PubMed:23225103). At the sarcomeric Zlines is proposed to act as adapter protein that links nascentmyofibers to the sarcolemma via ZYX and may play a role in earlyassembly and stabilization of the Z lines. Involved inautophagosome formation. May play a role in chaperone-assistedselective autophagy (CASA) involved in Z lines maintenance instriated muscle under mechanical tension; may link the client-processing CASA chaperone machinery to a membrane-tethering andfusion complex providing autophagosome membranes (By similarity).Involved in regulation of cell migration (PubMed:22915763,PubMed:25883213). May be a tumor suppressor (PubMed:16885336).{ECO:0000250|UniProtKB:D4A702, ECO:0000250|UniProtKB:Q91YE8,ECO:0000269|PubMed:22915763, ECO:0000269|PubMed:23225103,ECO:0000269|PubMed:24005909, ECO:0000269|PubMed:25883213,ECO:0000305|PubMed:16885336, ECO:0000305|PubMed:20554076}. Isoform 1: Involved in regulation of cell migration. Caninduce formation of thick, irregular actin bundles in the cellbody. {ECO:0000269|PubMed:22915763, ECO:0000269|PubMed:24005909}. Isoform 2: Involved in regulation of cell migration. Caninduce long, well-organized actin bundles frequently orientated inparallel along the long axis of the cell showing characteristicsof contractile ventral stress fibers.{ECO:0000269|PubMed:22915763, ECO:0000269|PubMed:24005909}. Isoform 3: Involved in regulation of cell migration. Caninduce an amorphous actin meshwork throughout the cell bodycontaining a mixture of long and short, randomly organized thickand thin actin bundles. {ECO:0000269|PubMed:22915763,ECO:0000269|PubMed:24005909}. Isoform 4: Can induce long, well-organized actin bundlesfrequently orientated in parallel along the long axis of the cellshowing characteristics of contractile ventral stress fibers.{ECO:0000269|PubMed:24005909}. Isoform 5: Involved in regulation of cell migration inpart dependent on the Rho-ROCK cascade; can promote formation ofnascent focal adhesions, actin bundles at the leading cell edgeand lamellipodia (PubMed:22915763, PubMed:25883213). Can induceformation of thick, irregular actin bundles in the cell body; theinduced actin network is associated with enhanced cell migrationin vitro. {ECO:0000269|PubMed:22915763,ECO:0000269|PubMed:24005909, ECO:0000269|PubMed:25883213}.

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 ADD3_SYNPO2


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 ADD3_SYNPO2


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 ADD3_SYNPO2


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 ADD3_SYNPO2


check button Diseases associated with fusion partners.
(DisGeNet 4.0)
PartnerGeneDisease IDDisease name# pubmedsSource
HgeneADD3C0007786Brain Ischemia1CTD_human
HgeneADD3C0023893Liver Cirrhosis, Experimental1CTD_human
HgeneADD3C0235032Neurotoxicity Syndromes1CTD_human
TgeneSYNPO2C0677886Epithelial ovarian cancer1CTD_human