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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: 33717

FusionGeneSummary for SHANK2_MYEOV

check button Fusion gene summary
Fusion gene informationFusion gene name: SHANK2_MYEOV
Fusion gene ID: 33717
HgeneTgene
Gene symbol

SHANK2

MYEOV

Gene ID

22941

26579

Gene nameSH3 and multiple ankyrin repeat domains 2myeloma overexpressed
SynonymsAUTS17|CORTBP1|CTTNBP1|ProSAP1|SHANK|SPANK-3OCIM
Cytomap

11q13.3-q13.4

11q13.3

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 1myeloma-overexpressed gene proteinmyeloma overexpressed (in a subset of t(11;14) positive multiple myelomas)myeloma overexpressed gene (in a subset of t(11;14) positive multiple myelomas)oncogene in multiple myeloma
Modification date2018052320180519
UniProtAcc

Q9UPX8

Q96EZ4

Ensembl transtripts involved in fusion geneENST00000449833, ENST00000409161, 
ENST00000423696, ENST00000338508, 
ENST00000409530, ENST00000449116, 
ENST00000357171, ENST00000468619, 
ENST00000441339, ENST00000308946, 
ENST00000535407, ENST00000541137, 
Fusion gene scores* DoF score30 X 12 X 9=324013 X 4 X 7=364
# samples 2814
** MAII scorelog2(28/3240*10)=-3.53249508082702
possibly effective Gene in Pan-Cancer Fusion Genes (peGinPCFGs).
DoF>8 and MAII<0
log2(14/364*10)=-1.37851162325373
possibly effective Gene in Pan-Cancer Fusion Genes (peGinPCFGs).
DoF>8 and MAII<0
Context

PubMed: SHANK2 [Title/Abstract] AND MYEOV [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
TCGALDBRCATCGA-A2-A04V-01ASHANK2chr11

70505933

-MYEOVchr11

69156278

+
TCGALDBRCATCGA-XX-A89A-01ASHANK2chr11

70644548

-MYEOVchr11

69156278

+
* 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-intronENST00000449833ENST00000441339SHANK2chr11

70505933

-MYEOVchr11

69156278

+
5CDS-intronENST00000449833ENST00000308946SHANK2chr11

70505933

-MYEOVchr11

69156278

+
5CDS-intronENST00000449833ENST00000535407SHANK2chr11

70505933

-MYEOVchr11

69156278

+
5CDS-3UTRENST00000449833ENST00000541137SHANK2chr11

70505933

-MYEOVchr11

69156278

+
5CDS-intronENST00000409161ENST00000441339SHANK2chr11

70505933

-MYEOVchr11

69156278

+
5CDS-intronENST00000409161ENST00000308946SHANK2chr11

70505933

-MYEOVchr11

69156278

+
5CDS-intronENST00000409161ENST00000535407SHANK2chr11

70505933

-MYEOVchr11

69156278

+
5CDS-3UTRENST00000409161ENST00000541137SHANK2chr11

70505933

-MYEOVchr11

69156278

+
5CDS-intronENST00000423696ENST00000441339SHANK2chr11

70505933

-MYEOVchr11

69156278

+
5CDS-intronENST00000423696ENST00000308946SHANK2chr11

70505933

-MYEOVchr11

69156278

+
5CDS-intronENST00000423696ENST00000535407SHANK2chr11

70505933

-MYEOVchr11

69156278

+
5CDS-3UTRENST00000423696ENST00000541137SHANK2chr11

70505933

-MYEOVchr11

69156278

+
5CDS-intronENST00000338508ENST00000441339SHANK2chr11

70505933

-MYEOVchr11

69156278

+
5CDS-intronENST00000338508ENST00000308946SHANK2chr11

70505933

-MYEOVchr11

69156278

+
5CDS-intronENST00000338508ENST00000535407SHANK2chr11

70505933

-MYEOVchr11

69156278

+
5CDS-3UTRENST00000338508ENST00000541137SHANK2chr11

70505933

-MYEOVchr11

69156278

+
5CDS-intronENST00000409530ENST00000441339SHANK2chr11

70505933

-MYEOVchr11

69156278

+
5CDS-intronENST00000409530ENST00000308946SHANK2chr11

70505933

-MYEOVchr11

69156278

+
5CDS-intronENST00000409530ENST00000535407SHANK2chr11

70505933

-MYEOVchr11

69156278

+
5CDS-3UTRENST00000409530ENST00000541137SHANK2chr11

70505933

-MYEOVchr11

69156278

+
5CDS-intronENST00000449116ENST00000441339SHANK2chr11

70505933

-MYEOVchr11

69156278

+
5CDS-intronENST00000449116ENST00000308946SHANK2chr11

70505933

-MYEOVchr11

69156278

+
5CDS-intronENST00000449116ENST00000535407SHANK2chr11

70505933

-MYEOVchr11

69156278

+
5CDS-3UTRENST00000449116ENST00000541137SHANK2chr11

70505933

-MYEOVchr11

69156278

+
5CDS-intronENST00000357171ENST00000441339SHANK2chr11

70505933

-MYEOVchr11

69156278

+
5CDS-intronENST00000357171ENST00000308946SHANK2chr11

70505933

-MYEOVchr11

69156278

+
5CDS-intronENST00000357171ENST00000535407SHANK2chr11

70505933

-MYEOVchr11

69156278

+
5CDS-3UTRENST00000357171ENST00000541137SHANK2chr11

70505933

-MYEOVchr11

69156278

+
intron-intronENST00000468619ENST00000441339SHANK2chr11

70505933

-MYEOVchr11

69156278

+
intron-intronENST00000468619ENST00000308946SHANK2chr11

70505933

-MYEOVchr11

69156278

+
intron-intronENST00000468619ENST00000535407SHANK2chr11

70505933

-MYEOVchr11

69156278

+
intron-3UTRENST00000468619ENST00000541137SHANK2chr11

70505933

-MYEOVchr11

69156278

+
intron-intronENST00000449833ENST00000441339SHANK2chr11

70644548

-MYEOVchr11

69156278

+
intron-intronENST00000449833ENST00000308946SHANK2chr11

70644548

-MYEOVchr11

69156278

+
intron-intronENST00000449833ENST00000535407SHANK2chr11

70644548

-MYEOVchr11

69156278

+
intron-3UTRENST00000449833ENST00000541137SHANK2chr11

70644548

-MYEOVchr11

69156278

+
intron-intronENST00000409161ENST00000441339SHANK2chr11

70644548

-MYEOVchr11

69156278

+
intron-intronENST00000409161ENST00000308946SHANK2chr11

70644548

-MYEOVchr11

69156278

+
intron-intronENST00000409161ENST00000535407SHANK2chr11

70644548

-MYEOVchr11

69156278

+
intron-3UTRENST00000409161ENST00000541137SHANK2chr11

70644548

-MYEOVchr11

69156278

+
5CDS-intronENST00000423696ENST00000441339SHANK2chr11

70644548

-MYEOVchr11

69156278

+
5CDS-intronENST00000423696ENST00000308946SHANK2chr11

70644548

-MYEOVchr11

69156278

+
5CDS-intronENST00000423696ENST00000535407SHANK2chr11

70644548

-MYEOVchr11

69156278

+
5CDS-3UTRENST00000423696ENST00000541137SHANK2chr11

70644548

-MYEOVchr11

69156278

+
5CDS-intronENST00000338508ENST00000441339SHANK2chr11

70644548

-MYEOVchr11

69156278

+
5CDS-intronENST00000338508ENST00000308946SHANK2chr11

70644548

-MYEOVchr11

69156278

+
5CDS-intronENST00000338508ENST00000535407SHANK2chr11

70644548

-MYEOVchr11

69156278

+
5CDS-3UTRENST00000338508ENST00000541137SHANK2chr11

70644548

-MYEOVchr11

69156278

+
intron-intronENST00000409530ENST00000441339SHANK2chr11

70644548

-MYEOVchr11

69156278

+
intron-intronENST00000409530ENST00000308946SHANK2chr11

70644548

-MYEOVchr11

69156278

+
intron-intronENST00000409530ENST00000535407SHANK2chr11

70644548

-MYEOVchr11

69156278

+
intron-3UTRENST00000409530ENST00000541137SHANK2chr11

70644548

-MYEOVchr11

69156278

+
intron-intronENST00000449116ENST00000441339SHANK2chr11

70644548

-MYEOVchr11

69156278

+
intron-intronENST00000449116ENST00000308946SHANK2chr11

70644548

-MYEOVchr11

69156278

+
intron-intronENST00000449116ENST00000535407SHANK2chr11

70644548

-MYEOVchr11

69156278

+
intron-3UTRENST00000449116ENST00000541137SHANK2chr11

70644548

-MYEOVchr11

69156278

+
intron-intronENST00000357171ENST00000441339SHANK2chr11

70644548

-MYEOVchr11

69156278

+
intron-intronENST00000357171ENST00000308946SHANK2chr11

70644548

-MYEOVchr11

69156278

+
intron-intronENST00000357171ENST00000535407SHANK2chr11

70644548

-MYEOVchr11

69156278

+
intron-3UTRENST00000357171ENST00000541137SHANK2chr11

70644548

-MYEOVchr11

69156278

+
5UTR-intronENST00000468619ENST00000441339SHANK2chr11

70644548

-MYEOVchr11

69156278

+
5UTR-intronENST00000468619ENST00000308946SHANK2chr11

70644548

-MYEOVchr11

69156278

+
5UTR-intronENST00000468619ENST00000535407SHANK2chr11

70644548

-MYEOVchr11

69156278

+
5UTR-3UTRENST00000468619ENST00000541137SHANK2chr11

70644548

-MYEOVchr11

69156278

+

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FusionProtFeatures for SHANK2_MYEOV


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

Q9UPX8

MYEOV

Q96EZ4

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.

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 SHANK2_MYEOV


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 SHANK2_MYEOV


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, TRIM25MYEOVPRTFDC1, CNN1


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 SHANK2_MYEOV


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 SHANK2_MYEOV


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