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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: 3966

FusionGeneSummary for BCAS3_SHANK2

check button Fusion gene summary
Fusion gene informationFusion gene name: BCAS3_SHANK2
Fusion gene ID: 3966
HgeneTgene
Gene symbol

BCAS3

SHANK2

Gene ID

54828

22941

Gene nameBCAS3, microtubule associated cell migration factorSH3 and multiple ankyrin repeat domains 2
SynonymsGAOB1|MAABAUTS17|CORTBP1|CTTNBP1|ProSAP1|SHANK|SPANK-3
Cytomap

17q23.2

11q13.3-q13.4

Type of geneprotein-codingprotein-coding
Descriptionbreast carcinoma-amplified sequence 3BCAS4/BCAS3 fusionRudhirabreast carcinoma amplified sequence 4/3 fusion proteinmetastasis associated antigen of breast cancerprotein Maab1SH3 and multiple ankyrin repeat domains protein 2GKAP/SAPAP interacting proteincortactin SH3 domain-binding proteincortactin-binding protein 1proline-rich synapse associated protein 1
Modification date2018052320180523
UniProtAcc

Q9H6U6

Q9UPX8

Ensembl transtripts involved in fusion geneENST00000589222, ENST00000407086, 
ENST00000390652, ENST00000408905, 
ENST00000588462, ENST00000585744, 
ENST00000588874, ENST00000585812, 
ENST00000449833, ENST00000409161, 
ENST00000423696, ENST00000338508, 
ENST00000409530, ENST00000449116, 
ENST00000357171, ENST00000468619, 
Fusion gene scores* DoF score40 X 23 X 15=1380027 X 15 X 8=3240
# samples 4730
** MAII scorelog2(47/13800*10)=-4.87586369998789
possibly effective Gene in Pan-Cancer Fusion Genes (peGinPCFGs).
DoF>8 and MAII<0		log2(30/3240*10)=-3.43295940727611
possibly effective Gene in Pan-Cancer Fusion Genes (peGinPCFGs).
DoF>8 and MAII<0
Context

PubMed: BCAS3 [Title/Abstract] AND SHANK2 [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
HgeneBCAS3

GO:0043085

positive regulation of catalytic activity

17505058

HgeneBCAS3

GO:0045944

positive regulation of transcription by RNA polymerase II

17505058

HgeneBCAS3

GO:0071391

cellular response to estrogen stimulus

17505058


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
TCGARVBRCATCGA-BH-A18R-01ABCAS3chr17

58824640

+SHANK2chr11

70349036

-
* 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-shiftENST00000589222ENST00000449833BCAS3chr17

58824640

+SHANK2chr11

70349036

-
Frame-shiftENST00000589222ENST00000409161BCAS3chr17

58824640

+SHANK2chr11

70349036

-
Frame-shiftENST00000589222ENST00000423696BCAS3chr17

58824640

+SHANK2chr11

70349036

-
Frame-shiftENST00000589222ENST00000338508BCAS3chr17

58824640

+SHANK2chr11

70349036

-
Frame-shiftENST00000589222ENST00000409530BCAS3chr17

58824640

+SHANK2chr11

70349036

-
Frame-shiftENST00000589222ENST00000449116BCAS3chr17

58824640

+SHANK2chr11

70349036

-
Frame-shiftENST00000589222ENST00000357171BCAS3chr17

58824640

+SHANK2chr11

70349036

-
5CDS-intronENST00000589222ENST00000468619BCAS3chr17

58824640

+SHANK2chr11

70349036

-
Frame-shiftENST00000407086ENST00000449833BCAS3chr17

58824640

+SHANK2chr11

70349036

-
Frame-shiftENST00000407086ENST00000409161BCAS3chr17

58824640

+SHANK2chr11

70349036

-
Frame-shiftENST00000407086ENST00000423696BCAS3chr17

58824640

+SHANK2chr11

70349036

-
Frame-shiftENST00000407086ENST00000338508BCAS3chr17

58824640

+SHANK2chr11

70349036

-
Frame-shiftENST00000407086ENST00000409530BCAS3chr17

58824640

+SHANK2chr11

70349036

-
Frame-shiftENST00000407086ENST00000449116BCAS3chr17

58824640

+SHANK2chr11

70349036

-
Frame-shiftENST00000407086ENST00000357171BCAS3chr17

58824640

+SHANK2chr11

70349036

-
5CDS-intronENST00000407086ENST00000468619BCAS3chr17

58824640

+SHANK2chr11

70349036

-
Frame-shiftENST00000390652ENST00000449833BCAS3chr17

58824640

+SHANK2chr11

70349036

-
Frame-shiftENST00000390652ENST00000409161BCAS3chr17

58824640

+SHANK2chr11

70349036

-
Frame-shiftENST00000390652ENST00000423696BCAS3chr17

58824640

+SHANK2chr11

70349036

-
Frame-shiftENST00000390652ENST00000338508BCAS3chr17

58824640

+SHANK2chr11

70349036

-
Frame-shiftENST00000390652ENST00000409530BCAS3chr17

58824640

+SHANK2chr11

70349036

-
Frame-shiftENST00000390652ENST00000449116BCAS3chr17

58824640

+SHANK2chr11

70349036

-
Frame-shiftENST00000390652ENST00000357171BCAS3chr17

58824640

+SHANK2chr11

70349036

-
5CDS-intronENST00000390652ENST00000468619BCAS3chr17

58824640

+SHANK2chr11

70349036

-
Frame-shiftENST00000408905ENST00000449833BCAS3chr17

58824640

+SHANK2chr11

70349036

-
Frame-shiftENST00000408905ENST00000409161BCAS3chr17

58824640

+SHANK2chr11

70349036

-
Frame-shiftENST00000408905ENST00000423696BCAS3chr17

58824640

+SHANK2chr11

70349036

-
Frame-shiftENST00000408905ENST00000338508BCAS3chr17

58824640

+SHANK2chr11

70349036

-
Frame-shiftENST00000408905ENST00000409530BCAS3chr17

58824640

+SHANK2chr11

70349036

-
Frame-shiftENST00000408905ENST00000449116BCAS3chr17

58824640

+SHANK2chr11

70349036

-
Frame-shiftENST00000408905ENST00000357171BCAS3chr17

58824640

+SHANK2chr11

70349036

-
5CDS-intronENST00000408905ENST00000468619BCAS3chr17

58824640

+SHANK2chr11

70349036

-
Frame-shiftENST00000588462ENST00000449833BCAS3chr17

58824640

+SHANK2chr11

70349036

-
Frame-shiftENST00000588462ENST00000409161BCAS3chr17

58824640

+SHANK2chr11

70349036

-
Frame-shiftENST00000588462ENST00000423696BCAS3chr17

58824640

+SHANK2chr11

70349036

-
Frame-shiftENST00000588462ENST00000338508BCAS3chr17

58824640

+SHANK2chr11

70349036

-
Frame-shiftENST00000588462ENST00000409530BCAS3chr17

58824640

+SHANK2chr11

70349036

-
Frame-shiftENST00000588462ENST00000449116BCAS3chr17

58824640

+SHANK2chr11

70349036

-
Frame-shiftENST00000588462ENST00000357171BCAS3chr17

58824640

+SHANK2chr11

70349036

-
5CDS-intronENST00000588462ENST00000468619BCAS3chr17

58824640

+SHANK2chr11

70349036

-
intron-3CDSENST00000585744ENST00000449833BCAS3chr17

58824640

+SHANK2chr11

70349036

-
intron-3CDSENST00000585744ENST00000409161BCAS3chr17

58824640

+SHANK2chr11

70349036

-
intron-3CDSENST00000585744ENST00000423696BCAS3chr17

58824640

+SHANK2chr11

70349036

-
intron-3CDSENST00000585744ENST00000338508BCAS3chr17

58824640

+SHANK2chr11

70349036

-
intron-3CDSENST00000585744ENST00000409530BCAS3chr17

58824640

+SHANK2chr11

70349036

-
intron-3CDSENST00000585744ENST00000449116BCAS3chr17

58824640

+SHANK2chr11

70349036

-
intron-3CDSENST00000585744ENST00000357171BCAS3chr17

58824640

+SHANK2chr11

70349036

-
intron-intronENST00000585744ENST00000468619BCAS3chr17

58824640

+SHANK2chr11

70349036

-
intron-3CDSENST00000588874ENST00000449833BCAS3chr17

58824640

+SHANK2chr11

70349036

-
intron-3CDSENST00000588874ENST00000409161BCAS3chr17

58824640

+SHANK2chr11

70349036

-
intron-3CDSENST00000588874ENST00000423696BCAS3chr17

58824640

+SHANK2chr11

70349036

-
intron-3CDSENST00000588874ENST00000338508BCAS3chr17

58824640

+SHANK2chr11

70349036

-
intron-3CDSENST00000588874ENST00000409530BCAS3chr17

58824640

+SHANK2chr11

70349036

-
intron-3CDSENST00000588874ENST00000449116BCAS3chr17

58824640

+SHANK2chr11

70349036

-
intron-3CDSENST00000588874ENST00000357171BCAS3chr17

58824640

+SHANK2chr11

70349036

-
intron-intronENST00000588874ENST00000468619BCAS3chr17

58824640

+SHANK2chr11

70349036

-
intron-3CDSENST00000585812ENST00000449833BCAS3chr17

58824640

+SHANK2chr11

70349036

-
intron-3CDSENST00000585812ENST00000409161BCAS3chr17

58824640

+SHANK2chr11

70349036

-
intron-3CDSENST00000585812ENST00000423696BCAS3chr17

58824640

+SHANK2chr11

70349036

-
intron-3CDSENST00000585812ENST00000338508BCAS3chr17

58824640

+SHANK2chr11

70349036

-
intron-3CDSENST00000585812ENST00000409530BCAS3chr17

58824640

+SHANK2chr11

70349036

-
intron-3CDSENST00000585812ENST00000449116BCAS3chr17

58824640

+SHANK2chr11

70349036

-
intron-3CDSENST00000585812ENST00000357171BCAS3chr17

58824640

+SHANK2chr11

70349036

-
intron-intronENST00000585812ENST00000468619BCAS3chr17

58824640

+SHANK2chr11

70349036

-

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FusionProtFeatures for BCAS3_SHANK2


check buttonMain function of each fusion partner protein. (from UniProt)
HgeneTgene
BCAS3

Q9H6U6

SHANK2

Q9UPX8

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 BCAS3_SHANK2


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 BCAS3_SHANK2


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
BCAS3CTBP1, CTBP2, CDC23, C16orf70, ZDHHC17, ESR1, PELP1, HIST1H3A, KAT2B, WIPI2, ATM, BAG4, CCND1, FBXW7, KRAS, PALB2, PHB, PTPN1, SMAD4, STK11, TGFB1, TSG101, XRCC3, OFD1, CEP128, FBF1, NPHP1, SCLT1, XPO1, CD14, HDAC1, IRF3, MAGEE1, IL17RA, DOCK5, VWA5A, RAB2BSHANK2CTTN, DNM2, ARHGEF7, DLGAP1, DLG4, DYNLL2, DYNLL1, MYO5A, DLGAP2, DLGAP3, DLGAP4, NLK, SHARPIN, XPO1, CDH1, EGFR, TRIM25


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 BCAS3_SHANK2


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 BCAS3_SHANK2


check button Diseases associated with fusion partners.
(DisGeNet 4.0)
PartnerGeneDisease IDDisease name# pubmedsSource
TgeneSHANK2C0004352Autistic Disorder2CTD_human
TgeneSHANK2C3714756Intellectual Disability1CTD_human