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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: 42279

FusionGeneSummary for YAP1_SHANK2

check button Fusion gene summary
Fusion gene informationFusion gene name: YAP1_SHANK2
Fusion gene ID: 42279
HgeneTgene
Gene symbol

YAP1

SHANK2

Gene ID

10413

22941

Gene nameYes associated protein 1SH3 and multiple ankyrin repeat domains 2
SynonymsCOB1|YAP|YAP2|YAP65|YKIAUTS17|CORTBP1|CTTNBP1|ProSAP1|SHANK|SPANK-3
Cytomap

11q22.1

11q13.3-q13.4

Type of geneprotein-codingprotein-coding
Descriptiontranscriptional coactivator YAP165 kDa Yes-associated proteinprotein yorkie homologyes-associated protein 1yes-associated protein 2yes-associated protein YAP65 homologyorkie homologSH3 and multiple ankyrin repeat domains protein 2GKAP/SAPAP interacting proteincortactin SH3 domain-binding proteincortactin-binding protein 1proline-rich synapse associated protein 1
Modification date2018052720180523
UniProtAcc

P46937

Q9UPX8

Ensembl transtripts involved in fusion geneENST00000526343, ENST00000282441, 
ENST00000537274, ENST00000345877, 
ENST00000531439, ENST00000524575, 
ENST00000528834, 		ENST00000449833, 
ENST00000409161, ENST00000423696, 
ENST00000338508, ENST00000409530, 
ENST00000449116, ENST00000357171, 
ENST00000468619, 
Fusion gene scores* DoF score12 X 6 X 8=57627 X 15 X 8=3240
# samples 1230
** MAII scorelog2(12/576*10)=-2.26303440583379
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: YAP1 [Title/Abstract] AND SHANK2 [Title/Abstract] AND fusion [Title/Abstract]

Functional or gene categories assigned by FusionGDB annotationTumor suppressor gene involved fusion gene, retained protein feature but frameshift.
DDR (DNA damage repair) gene involved fusion gene, in-frame but not retained their domain.
* 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
HgeneYAP1

GO:0006974

cellular response to DNA damage stimulus

18280240

HgeneYAP1

GO:0008283

cell proliferation

17974916

HgeneYAP1

GO:0032570

response to progesterone

16772533

HgeneYAP1

GO:0033148

positive regulation of intracellular estrogen receptor signaling pathway

16772533

HgeneYAP1

GO:0045893

positive regulation of transcription, DNA-templated

20368466

HgeneYAP1

GO:0045944

positive regulation of transcription by RNA polymerase II

25796446

HgeneYAP1

GO:0050767

regulation of neurogenesis

25433207

HgeneYAP1

GO:0050847

progesterone receptor signaling pathway

16772533

HgeneYAP1

GO:0060242

contact inhibition

17974916

HgeneYAP1

GO:0065003

protein-containing complex assembly

20368466

HgeneYAP1

GO:0071480

cellular response to gamma radiation

18280240

HgeneYAP1

GO:0072091

regulation of stem cell proliferation

25433207


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
TCGALDHNSCTCGA-UF-A7JV-01AYAP1chr11

102033302

+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-shiftENST00000526343ENST00000449833YAP1chr11

102033302

+SHANK2chr11

70349036

-
Frame-shiftENST00000526343ENST00000409161YAP1chr11

102033302

+SHANK2chr11

70349036

-
Frame-shiftENST00000526343ENST00000423696YAP1chr11

102033302

+SHANK2chr11

70349036

-
Frame-shiftENST00000526343ENST00000338508YAP1chr11

102033302

+SHANK2chr11

70349036

-
Frame-shiftENST00000526343ENST00000409530YAP1chr11

102033302

+SHANK2chr11

70349036

-
Frame-shiftENST00000526343ENST00000449116YAP1chr11

102033302

+SHANK2chr11

70349036

-
Frame-shiftENST00000526343ENST00000357171YAP1chr11

102033302

+SHANK2chr11

70349036

-
5CDS-intronENST00000526343ENST00000468619YAP1chr11

102033302

+SHANK2chr11

70349036

-
Frame-shiftENST00000282441ENST00000449833YAP1chr11

102033302

+SHANK2chr11

70349036

-
Frame-shiftENST00000282441ENST00000409161YAP1chr11

102033302

+SHANK2chr11

70349036

-
Frame-shiftENST00000282441ENST00000423696YAP1chr11

102033302

+SHANK2chr11

70349036

-
Frame-shiftENST00000282441ENST00000338508YAP1chr11

102033302

+SHANK2chr11

70349036

-
Frame-shiftENST00000282441ENST00000409530YAP1chr11

102033302

+SHANK2chr11

70349036

-
Frame-shiftENST00000282441ENST00000449116YAP1chr11

102033302

+SHANK2chr11

70349036

-
Frame-shiftENST00000282441ENST00000357171YAP1chr11

102033302

+SHANK2chr11

70349036

-
5CDS-intronENST00000282441ENST00000468619YAP1chr11

102033302

+SHANK2chr11

70349036

-
Frame-shiftENST00000537274ENST00000449833YAP1chr11

102033302

+SHANK2chr11

70349036

-
Frame-shiftENST00000537274ENST00000409161YAP1chr11

102033302

+SHANK2chr11

70349036

-
Frame-shiftENST00000537274ENST00000423696YAP1chr11

102033302

+SHANK2chr11

70349036

-
Frame-shiftENST00000537274ENST00000338508YAP1chr11

102033302

+SHANK2chr11

70349036

-
Frame-shiftENST00000537274ENST00000409530YAP1chr11

102033302

+SHANK2chr11

70349036

-
Frame-shiftENST00000537274ENST00000449116YAP1chr11

102033302

+SHANK2chr11

70349036

-
Frame-shiftENST00000537274ENST00000357171YAP1chr11

102033302

+SHANK2chr11

70349036

-
5CDS-intronENST00000537274ENST00000468619YAP1chr11

102033302

+SHANK2chr11

70349036

-
Frame-shiftENST00000345877ENST00000449833YAP1chr11

102033302

+SHANK2chr11

70349036

-
Frame-shiftENST00000345877ENST00000409161YAP1chr11

102033302

+SHANK2chr11

70349036

-
Frame-shiftENST00000345877ENST00000423696YAP1chr11

102033302

+SHANK2chr11

70349036

-
Frame-shiftENST00000345877ENST00000338508YAP1chr11

102033302

+SHANK2chr11

70349036

-
Frame-shiftENST00000345877ENST00000409530YAP1chr11

102033302

+SHANK2chr11

70349036

-
Frame-shiftENST00000345877ENST00000449116YAP1chr11

102033302

+SHANK2chr11

70349036

-
Frame-shiftENST00000345877ENST00000357171YAP1chr11

102033302

+SHANK2chr11

70349036

-
5CDS-intronENST00000345877ENST00000468619YAP1chr11

102033302

+SHANK2chr11

70349036

-
Frame-shiftENST00000531439ENST00000449833YAP1chr11

102033302

+SHANK2chr11

70349036

-
Frame-shiftENST00000531439ENST00000409161YAP1chr11

102033302

+SHANK2chr11

70349036

-
Frame-shiftENST00000531439ENST00000423696YAP1chr11

102033302

+SHANK2chr11

70349036

-
Frame-shiftENST00000531439ENST00000338508YAP1chr11

102033302

+SHANK2chr11

70349036

-
Frame-shiftENST00000531439ENST00000409530YAP1chr11

102033302

+SHANK2chr11

70349036

-
Frame-shiftENST00000531439ENST00000449116YAP1chr11

102033302

+SHANK2chr11

70349036

-
Frame-shiftENST00000531439ENST00000357171YAP1chr11

102033302

+SHANK2chr11

70349036

-
5CDS-intronENST00000531439ENST00000468619YAP1chr11

102033302

+SHANK2chr11

70349036

-
Frame-shiftENST00000524575ENST00000449833YAP1chr11

102033302

+SHANK2chr11

70349036

-
Frame-shiftENST00000524575ENST00000409161YAP1chr11

102033302

+SHANK2chr11

70349036

-
Frame-shiftENST00000524575ENST00000423696YAP1chr11

102033302

+SHANK2chr11

70349036

-
Frame-shiftENST00000524575ENST00000338508YAP1chr11

102033302

+SHANK2chr11

70349036

-
Frame-shiftENST00000524575ENST00000409530YAP1chr11

102033302

+SHANK2chr11

70349036

-
Frame-shiftENST00000524575ENST00000449116YAP1chr11

102033302

+SHANK2chr11

70349036

-
Frame-shiftENST00000524575ENST00000357171YAP1chr11

102033302

+SHANK2chr11

70349036

-
5CDS-intronENST00000524575ENST00000468619YAP1chr11

102033302

+SHANK2chr11

70349036

-
intron-3CDSENST00000528834ENST00000449833YAP1chr11

102033302

+SHANK2chr11

70349036

-
intron-3CDSENST00000528834ENST00000409161YAP1chr11

102033302

+SHANK2chr11

70349036

-
intron-3CDSENST00000528834ENST00000423696YAP1chr11

102033302

+SHANK2chr11

70349036

-
intron-3CDSENST00000528834ENST00000338508YAP1chr11

102033302

+SHANK2chr11

70349036

-
intron-3CDSENST00000528834ENST00000409530YAP1chr11

102033302

+SHANK2chr11

70349036

-
intron-3CDSENST00000528834ENST00000449116YAP1chr11

102033302

+SHANK2chr11

70349036

-
intron-3CDSENST00000528834ENST00000357171YAP1chr11

102033302

+SHANK2chr11

70349036

-
intron-intronENST00000528834ENST00000468619YAP1chr11

102033302

+SHANK2chr11

70349036

-

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FusionProtFeatures for YAP1_SHANK2


check buttonMain function of each fusion partner protein. (from UniProt)
HgeneTgene
YAP1

P46937

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 YAP1_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 YAP1_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
YAP1ERBB4, TP53BP2, KIF5A, SLC9A3R1, YWHAQ, RUNX3, RUNX2, RUNX1, TP73, TP63, WBP1, SMAD7, SMAD6, SCAMP3, AMOT, ITCH, EP300, BTRC, YWHAG, FBXW11, SMAD1, SMAD5, SMAD3, EGFR, ELAVL1, KLF5, LATS2, LATS1, PML, SUMO1, PTPN14, NFE2, POLR2A, AMOTL2, SRSF2, AHCYL1, UBQLN2, SULT1A1, UNK, UBA2, ZFYVE19, VPS4B, PRDX1, IGBP1, THUMPD1, ZPR1, NUBP2, UBE2L3, PIN1, USP9X, TTC9C, UCHL3, UBE2D1, UFM1, UBE2C, UBXN7, VPS25, TEAD1, CREB1, PPP1CA, AMOTL1, ARID1A, ARID1B, ATPIF1, BCL9L, CCDC85C, DPF2, INADL, LIN7C, MPDZ, MPP5, NF2, PARD3, PDLIM7, RAE1, RAPGEF2, RASSF8, SLC9A3R2, SMARCD1, TEAD3, TJP2, WBP2, YWHAB, YWHAE, YWHAH, YWHAZ, MAP2K1, ARFIP1, PAPOLA, PRMT3, RTF1, STAT1, TSNAX, TOM1, FBXW7, ABL1, ENO1, MOV10, NXF1, FAM189B, PRRG4, CYYR1, TEAD4, ARRDC1, LDLRAD4, STUB1, CPVL, ERP44, FASN, HSPH1, HSPA4L, HSPA4, HYOU1, MCMBP, RAPGEF6, PTCH1, PRRG2, NEDD8, TEAD2, XPO1, SMAD2, ENAH, CDH1, PTPN21, DEFA6, BAG4, CTNNB1, NUDT5, PRKD1, XRCC5, XRCC6, AHNAK, EPRS, THBS1, EEF1A1, EEF1A1P5, WWC3, TUBB, HRNR, PFKP, RPL6, COPA, VCP, EIF3B, CAD, RBM10, SUN2, SLC25A5, PSMD2, ACTN1, RRBP1, DDX3X, RPS4X, FAM120A, NCL, CSTF1, TMPO, MAP4, USP15, RPL7A, SNRPB, RPL18, SF3B3, FLG2, HSPB1, CCT2, SND1, PRPF8, EIF4B, HSP90B1, NPM1, PPP2R1A, CYFIP1, MATR3, TUBB6, HNRNPA2B1, RPS6, PSMC2, EIF3L, HNRNPR, IMMT, PHB2, RPS8, PTRF, RPL10A, PARP1, HIST1H1E, LMNB1, PA2G4, HNRNPF, ITGB1, NUMA1, SRSF6, TGM2, OGDH, PDIA3, RPL24, PHGDH, IPO5, TSR1, TRIP6, YBX1, SMARCA4, ATAD3A, RPL19, CCT5, PGAM5, SEC16A, AJUBA, PSMC5, UPF1, RPL15, XRN2, RPL13A, PSMC6, CNN2, HDAC1, HDAC2, SFN, SUPT16H, RBBP7, PRDX6, SEPT2, UQCRC2, MVD, MYH10, PLOD2, PSMD6, ADSS, PAICS, FUBP1, CIAPIN1, SFXN1, PSMA5, RPL9, DNAJC10, PTBP1, ANXA5, KPNA2, WDR1, C11orf84, H2AFY, JUN, RTN4, RPL14, H1FX, IGFBP7, ACTL6A, RPL17, ZYX, PSMB4, TWF1, HIST1H1B, TK1, CDC20, RAN, RPL21, SV2B, HN1LSHANK2CTTN, 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 YAP1_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 YAP1_SHANK2


check button Diseases associated with fusion partners.
(DisGeNet 4.0)
PartnerGeneDisease IDDisease name# pubmedsSource
HgeneYAP1C0027819Neuroblastoma1CTD_human
HgeneYAP1C0919267ovarian neoplasm1CTD_human
HgeneYAP1C1168401Squamous cell carcinoma of the head and neck1CTD_human
TgeneSHANK2C0004352Autistic Disorder2CTD_human
TgeneSHANK2C3714756Intellectual Disability1CTD_human