FusionGDB Logo

Home

Download

Statistics

Examples

Help

Contact

Center for Computational Systems Medicine
leaf

FusionGeneSummary

leaf

FusionProtFeature

leaf

FusionGeneSequence

leaf

FusionGenePPI

leaf

RelatedDrugs

leaf

RelatedDiseases

Fusion gene ID: 33718

FusionGeneSummary for SHANK2_NEU3

check button Fusion gene summary
Fusion gene informationFusion gene name: SHANK2_NEU3
Fusion gene ID: 33718
HgeneTgene
Gene symbol

SHANK2

NEU3

Gene ID

22941

10825

Gene nameSH3 and multiple ankyrin repeat domains 2neuraminidase 3
SynonymsAUTS17|CORTBP1|CTTNBP1|ProSAP1|SHANK|SPANK-3SIAL3
Cytomap

11q13.3-q13.4

11q13.4

Type of geneprotein-codingprotein-coding
DescriptionSH3 and multiple ankyrin repeat domains protein 2GKAP/SAPAP interacting proteincortactin SH3 domain-binding proteincortactin-binding protein 1proline-rich synapse associated protein 1sialidase-3N-acetyl-alpha-neuraminidase 3ganglioside sialidasemembrane sialidasesialidase 3 (membrane sialidase)
Modification date2018052320180523
UniProtAcc

Q9UPX8

Q9UQ49

Ensembl transtripts involved in fusion geneENST00000449833, ENST00000409161, 
ENST00000423696, ENST00000338508, 
ENST00000409530, ENST00000449116, 
ENST00000357171, ENST00000468619, 
ENST00000294064, ENST00000531509, 
ENST00000544263, ENST00000529024, 
ENST00000532963, ENST00000531619, 
ENST00000545272, ENST00000526068, 
ENST00000534628, 
Fusion gene scores* DoF score30 X 12 X 9=32403 X 1 X 3=9
# samples 283
** MAII scorelog2(28/3240*10)=-3.53249508082702
possibly effective Gene in Pan-Cancer Fusion Genes (peGinPCFGs).
DoF>8 and MAII<0
log2(3/9*10)=1.73696559416621
effective Gene in Pan-Cancer Fusion Genes (eGinPCFGs).
DoF>8 and MAII>0
Context

PubMed: SHANK2 [Title/Abstract] AND NEU3 [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
TgeneNEU3

GO:0005975

carbohydrate metabolic process

12730204

TgeneNEU3

GO:0006689

ganglioside catabolic process

10861246

TgeneNEU3

GO:0009313

oligosaccharide catabolic process

10861246


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
TCGARVCHOLTCGA-W5-AA2X-01ASHANK2chr11

70505933

-NEU3chr11

74705554

+
* 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
Frame-shitENST00000449833ENST00000294064SHANK2chr11

70505933

-NEU3chr11

74705554

+
Frame-shitENST00000449833ENST00000531509SHANK2chr11

70505933

-NEU3chr11

74705554

+
5CDS-5UTRENST00000449833ENST00000544263SHANK2chr11

70505933

-NEU3chr11

74705554

+
5CDS-intronENST00000449833ENST00000529024SHANK2chr11

70505933

-NEU3chr11

74705554

+
5CDS-intronENST00000449833ENST00000532963SHANK2chr11

70505933

-NEU3chr11

74705554

+
5CDS-intronENST00000449833ENST00000531619SHANK2chr11

70505933

-NEU3chr11

74705554

+
5CDS-intronENST00000449833ENST00000545272SHANK2chr11

70505933

-NEU3chr11

74705554

+
5CDS-intronENST00000449833ENST00000526068SHANK2chr11

70505933

-NEU3chr11

74705554

+
5CDS-intronENST00000449833ENST00000534628SHANK2chr11

70505933

-NEU3chr11

74705554

+
Frame-shitENST00000409161ENST00000294064SHANK2chr11

70505933

-NEU3chr11

74705554

+
Frame-shitENST00000409161ENST00000531509SHANK2chr11

70505933

-NEU3chr11

74705554

+
5CDS-5UTRENST00000409161ENST00000544263SHANK2chr11

70505933

-NEU3chr11

74705554

+
5CDS-intronENST00000409161ENST00000529024SHANK2chr11

70505933

-NEU3chr11

74705554

+
5CDS-intronENST00000409161ENST00000532963SHANK2chr11

70505933

-NEU3chr11

74705554

+
5CDS-intronENST00000409161ENST00000531619SHANK2chr11

70505933

-NEU3chr11

74705554

+
5CDS-intronENST00000409161ENST00000545272SHANK2chr11

70505933

-NEU3chr11

74705554

+
5CDS-intronENST00000409161ENST00000526068SHANK2chr11

70505933

-NEU3chr11

74705554

+
5CDS-intronENST00000409161ENST00000534628SHANK2chr11

70505933

-NEU3chr11

74705554

+
Frame-shitENST00000423696ENST00000294064SHANK2chr11

70505933

-NEU3chr11

74705554

+
Frame-shitENST00000423696ENST00000531509SHANK2chr11

70505933

-NEU3chr11

74705554

+
5CDS-5UTRENST00000423696ENST00000544263SHANK2chr11

70505933

-NEU3chr11

74705554

+
5CDS-intronENST00000423696ENST00000529024SHANK2chr11

70505933

-NEU3chr11

74705554

+
5CDS-intronENST00000423696ENST00000532963SHANK2chr11

70505933

-NEU3chr11

74705554

+
5CDS-intronENST00000423696ENST00000531619SHANK2chr11

70505933

-NEU3chr11

74705554

+
5CDS-intronENST00000423696ENST00000545272SHANK2chr11

70505933

-NEU3chr11

74705554

+
5CDS-intronENST00000423696ENST00000526068SHANK2chr11

70505933

-NEU3chr11

74705554

+
5CDS-intronENST00000423696ENST00000534628SHANK2chr11

70505933

-NEU3chr11

74705554

+
Frame-shitENST00000338508ENST00000294064SHANK2chr11

70505933

-NEU3chr11

74705554

+
Frame-shitENST00000338508ENST00000531509SHANK2chr11

70505933

-NEU3chr11

74705554

+
5CDS-5UTRENST00000338508ENST00000544263SHANK2chr11

70505933

-NEU3chr11

74705554

+
5CDS-intronENST00000338508ENST00000529024SHANK2chr11

70505933

-NEU3chr11

74705554

+
5CDS-intronENST00000338508ENST00000532963SHANK2chr11

70505933

-NEU3chr11

74705554

+
5CDS-intronENST00000338508ENST00000531619SHANK2chr11

70505933

-NEU3chr11

74705554

+
5CDS-intronENST00000338508ENST00000545272SHANK2chr11

70505933

-NEU3chr11

74705554

+
5CDS-intronENST00000338508ENST00000526068SHANK2chr11

70505933

-NEU3chr11

74705554

+
5CDS-intronENST00000338508ENST00000534628SHANK2chr11

70505933

-NEU3chr11

74705554

+
Frame-shitENST00000409530ENST00000294064SHANK2chr11

70505933

-NEU3chr11

74705554

+
Frame-shitENST00000409530ENST00000531509SHANK2chr11

70505933

-NEU3chr11

74705554

+
5CDS-5UTRENST00000409530ENST00000544263SHANK2chr11

70505933

-NEU3chr11

74705554

+
5CDS-intronENST00000409530ENST00000529024SHANK2chr11

70505933

-NEU3chr11

74705554

+
5CDS-intronENST00000409530ENST00000532963SHANK2chr11

70505933

-NEU3chr11

74705554

+
5CDS-intronENST00000409530ENST00000531619SHANK2chr11

70505933

-NEU3chr11

74705554

+
5CDS-intronENST00000409530ENST00000545272SHANK2chr11

70505933

-NEU3chr11

74705554

+
5CDS-intronENST00000409530ENST00000526068SHANK2chr11

70505933

-NEU3chr11

74705554

+
5CDS-intronENST00000409530ENST00000534628SHANK2chr11

70505933

-NEU3chr11

74705554

+
Frame-shitENST00000449116ENST00000294064SHANK2chr11

70505933

-NEU3chr11

74705554

+
Frame-shitENST00000449116ENST00000531509SHANK2chr11

70505933

-NEU3chr11

74705554

+
5CDS-5UTRENST00000449116ENST00000544263SHANK2chr11

70505933

-NEU3chr11

74705554

+
5CDS-intronENST00000449116ENST00000529024SHANK2chr11

70505933

-NEU3chr11

74705554

+
5CDS-intronENST00000449116ENST00000532963SHANK2chr11

70505933

-NEU3chr11

74705554

+
5CDS-intronENST00000449116ENST00000531619SHANK2chr11

70505933

-NEU3chr11

74705554

+
5CDS-intronENST00000449116ENST00000545272SHANK2chr11

70505933

-NEU3chr11

74705554

+
5CDS-intronENST00000449116ENST00000526068SHANK2chr11

70505933

-NEU3chr11

74705554

+
5CDS-intronENST00000449116ENST00000534628SHANK2chr11

70505933

-NEU3chr11

74705554

+
Frame-shitENST00000357171ENST00000294064SHANK2chr11

70505933

-NEU3chr11

74705554

+
Frame-shitENST00000357171ENST00000531509SHANK2chr11

70505933

-NEU3chr11

74705554

+
5CDS-5UTRENST00000357171ENST00000544263SHANK2chr11

70505933

-NEU3chr11

74705554

+
5CDS-intronENST00000357171ENST00000529024SHANK2chr11

70505933

-NEU3chr11

74705554

+
5CDS-intronENST00000357171ENST00000532963SHANK2chr11

70505933

-NEU3chr11

74705554

+
5CDS-intronENST00000357171ENST00000531619SHANK2chr11

70505933

-NEU3chr11

74705554

+
5CDS-intronENST00000357171ENST00000545272SHANK2chr11

70505933

-NEU3chr11

74705554

+
5CDS-intronENST00000357171ENST00000526068SHANK2chr11

70505933

-NEU3chr11

74705554

+
5CDS-intronENST00000357171ENST00000534628SHANK2chr11

70505933

-NEU3chr11

74705554

+
intron-3CDSENST00000468619ENST00000294064SHANK2chr11

70505933

-NEU3chr11

74705554

+
intron-3CDSENST00000468619ENST00000531509SHANK2chr11

70505933

-NEU3chr11

74705554

+
intron-5UTRENST00000468619ENST00000544263SHANK2chr11

70505933

-NEU3chr11

74705554

+
intron-intronENST00000468619ENST00000529024SHANK2chr11

70505933

-NEU3chr11

74705554

+
intron-intronENST00000468619ENST00000532963SHANK2chr11

70505933

-NEU3chr11

74705554

+
intron-intronENST00000468619ENST00000531619SHANK2chr11

70505933

-NEU3chr11

74705554

+
intron-intronENST00000468619ENST00000545272SHANK2chr11

70505933

-NEU3chr11

74705554

+
intron-intronENST00000468619ENST00000526068SHANK2chr11

70505933

-NEU3chr11

74705554

+
intron-intronENST00000468619ENST00000534628SHANK2chr11

70505933

-NEU3chr11

74705554

+

Top

FusionProtFeatures for SHANK2_NEU3


check buttonMain function of each fusion partner protein. (from UniProt)
HgeneTgene
SHANK2

Q9UPX8

NEU3

Q9UQ49

Seems to be an adapter protein in the postsynapticdensity (PSD) of excitatory synapses that interconnects receptorsof the postsynaptic membrane including NMDA-type and metabotropicglutamate receptors, and the actin-based cytoskeleton. May play arole in the structural and functional organization of thedendritic spine and synaptic junction. Plays a role in modulating the ganglioside content ofthe lipid bilayer at the level of membrane-bound sialylglycoconjugates. {ECO:0000269|PubMed:10861246,ECO:0000269|PubMed:20511247}.

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


Top

FusionGeneSequence for SHANK2_NEU3


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).

Top

FusionGenePPI for SHANK2_NEU3


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
SHANK2CTTN, DNM2, ARHGEF7, DLGAP1, DLG4, DYNLL2, DYNLL1, MYO5A, DLGAP2, DLGAP3, DLGAP4, NLK, SHARPIN, XPO1, CDH1, EGFR, TRIM25NEU3GRB2, CAV1, KLK11, KLK5, PLA2G10, ALOX5


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 SHANK2_NEU3


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 SHANK2_NEU3


check button Diseases associated with fusion partners.
(DisGeNet 4.0)
PartnerGeneDisease IDDisease name# pubmedsSource
HgeneSHANK2C0004352Autistic Disorder2CTD_human
HgeneSHANK2C3714756Intellectual Disability1CTD_human