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: 25470

FusionGeneSummary for ORAOV1_SHANK2

check button Fusion gene summary
Fusion gene informationFusion gene name: ORAOV1_SHANK2
Fusion gene ID: 25470
HgeneTgene
Gene symbol

ORAOV1

SHANK2

Gene ID

22941

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

11q13.3-q13.4

Type of geneprotein-coding
DescriptionSH3 and multiple ankyrin repeat domains protein 2GKAP/SAPAP interacting proteincortactin SH3 domain-binding proteincortactin-binding protein 1proline-rich synapse associated protein 1
Modification date20180523
UniProtAcc

Q8WV07

Q9UPX8

Ensembl transtripts involved in fusion geneENST00000542515, ENST00000279147, 
ENST00000536870, ENST00000535657, 
ENST00000539414, ENST00000542341, 
ENST00000449833, ENST00000409161, 
ENST00000423696, ENST00000338508, 
ENST00000409530, ENST00000449116, 
ENST00000357171, ENST00000468619, 
Fusion gene scores* DoF score7 X 6 X 5=21027 X 15 X 8=3240
# samples 730
** MAII scorelog2(7/210*10)=-1.58496250072116
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: ORAOV1 [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

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
TCGALDBLCATCGA-XF-AAMQ-01AORAOV1chr11

69489958

-SHANK2chr11

70338570

-
* 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
intron-3CDSENST00000542515ENST00000449833ORAOV1chr11

69489958

-SHANK2chr11

70338570

-
intron-3CDSENST00000542515ENST00000409161ORAOV1chr11

69489958

-SHANK2chr11

70338570

-
intron-3CDSENST00000542515ENST00000423696ORAOV1chr11

69489958

-SHANK2chr11

70338570

-
intron-3CDSENST00000542515ENST00000338508ORAOV1chr11

69489958

-SHANK2chr11

70338570

-
intron-3CDSENST00000542515ENST00000409530ORAOV1chr11

69489958

-SHANK2chr11

70338570

-
intron-3CDSENST00000542515ENST00000449116ORAOV1chr11

69489958

-SHANK2chr11

70338570

-
intron-3CDSENST00000542515ENST00000357171ORAOV1chr11

69489958

-SHANK2chr11

70338570

-
intron-intronENST00000542515ENST00000468619ORAOV1chr11

69489958

-SHANK2chr11

70338570

-
Frame-shiftENST00000279147ENST00000449833ORAOV1chr11

69489958

-SHANK2chr11

70338570

-
Frame-shiftENST00000279147ENST00000409161ORAOV1chr11

69489958

-SHANK2chr11

70338570

-
Frame-shiftENST00000279147ENST00000423696ORAOV1chr11

69489958

-SHANK2chr11

70338570

-
Frame-shiftENST00000279147ENST00000338508ORAOV1chr11

69489958

-SHANK2chr11

70338570

-
Frame-shiftENST00000279147ENST00000409530ORAOV1chr11

69489958

-SHANK2chr11

70338570

-
Frame-shiftENST00000279147ENST00000449116ORAOV1chr11

69489958

-SHANK2chr11

70338570

-
In-frameENST00000279147ENST00000357171ORAOV1chr11

69489958

-SHANK2chr11

70338570

-
5CDS-intronENST00000279147ENST00000468619ORAOV1chr11

69489958

-SHANK2chr11

70338570

-
Frame-shiftENST00000536870ENST00000449833ORAOV1chr11

69489958

-SHANK2chr11

70338570

-
Frame-shiftENST00000536870ENST00000409161ORAOV1chr11

69489958

-SHANK2chr11

70338570

-
Frame-shiftENST00000536870ENST00000423696ORAOV1chr11

69489958

-SHANK2chr11

70338570

-
Frame-shiftENST00000536870ENST00000338508ORAOV1chr11

69489958

-SHANK2chr11

70338570

-
Frame-shiftENST00000536870ENST00000409530ORAOV1chr11

69489958

-SHANK2chr11

70338570

-
Frame-shiftENST00000536870ENST00000449116ORAOV1chr11

69489958

-SHANK2chr11

70338570

-
In-frameENST00000536870ENST00000357171ORAOV1chr11

69489958

-SHANK2chr11

70338570

-
5CDS-intronENST00000536870ENST00000468619ORAOV1chr11

69489958

-SHANK2chr11

70338570

-
Frame-shiftENST00000535657ENST00000449833ORAOV1chr11

69489958

-SHANK2chr11

70338570

-
Frame-shiftENST00000535657ENST00000409161ORAOV1chr11

69489958

-SHANK2chr11

70338570

-
Frame-shiftENST00000535657ENST00000423696ORAOV1chr11

69489958

-SHANK2chr11

70338570

-
Frame-shiftENST00000535657ENST00000338508ORAOV1chr11

69489958

-SHANK2chr11

70338570

-
Frame-shiftENST00000535657ENST00000409530ORAOV1chr11

69489958

-SHANK2chr11

70338570

-
Frame-shiftENST00000535657ENST00000449116ORAOV1chr11

69489958

-SHANK2chr11

70338570

-
In-frameENST00000535657ENST00000357171ORAOV1chr11

69489958

-SHANK2chr11

70338570

-
5CDS-intronENST00000535657ENST00000468619ORAOV1chr11

69489958

-SHANK2chr11

70338570

-
Frame-shiftENST00000539414ENST00000449833ORAOV1chr11

69489958

-SHANK2chr11

70338570

-
Frame-shiftENST00000539414ENST00000409161ORAOV1chr11

69489958

-SHANK2chr11

70338570

-
Frame-shiftENST00000539414ENST00000423696ORAOV1chr11

69489958

-SHANK2chr11

70338570

-
Frame-shiftENST00000539414ENST00000338508ORAOV1chr11

69489958

-SHANK2chr11

70338570

-
Frame-shiftENST00000539414ENST00000409530ORAOV1chr11

69489958

-SHANK2chr11

70338570

-
Frame-shiftENST00000539414ENST00000449116ORAOV1chr11

69489958

-SHANK2chr11

70338570

-
In-frameENST00000539414ENST00000357171ORAOV1chr11

69489958

-SHANK2chr11

70338570

-
5CDS-intronENST00000539414ENST00000468619ORAOV1chr11

69489958

-SHANK2chr11

70338570

-
Frame-shiftENST00000542341ENST00000449833ORAOV1chr11

69489958

-SHANK2chr11

70338570

-
Frame-shiftENST00000542341ENST00000409161ORAOV1chr11

69489958

-SHANK2chr11

70338570

-
Frame-shiftENST00000542341ENST00000423696ORAOV1chr11

69489958

-SHANK2chr11

70338570

-
Frame-shiftENST00000542341ENST00000338508ORAOV1chr11

69489958

-SHANK2chr11

70338570

-
Frame-shiftENST00000542341ENST00000409530ORAOV1chr11

69489958

-SHANK2chr11

70338570

-
Frame-shiftENST00000542341ENST00000449116ORAOV1chr11

69489958

-SHANK2chr11

70338570

-
In-frameENST00000542341ENST00000357171ORAOV1chr11

69489958

-SHANK2chr11

70338570

-
5CDS-intronENST00000542341ENST00000468619ORAOV1chr11

69489958

-SHANK2chr11

70338570

-

Top

FusionProtFeatures for ORAOV1_SHANK2


check buttonMain function of each fusion partner protein. (from UniProt)
HgeneTgene
ORAOV1

Q8WV07

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


Top

FusionGeneSequence for ORAOV1_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.
>In-frame_ORAOV1_ENST00000279147_chr11_69489958_-_SHANK2_ENST00000357171_chr11_70338570_-_117aa
MAGSQDIFDAIVMADERINPRRXSRPPSPPALLRTWLWNRGWRPSSSGPAAGASRRAQTXTLCTNAKESPXXRPLFLGAQKPRFWASLEV

>In-frame_ORAOV1_ENST00000536870_chr11_69489958_-_SHANK2_ENST00000357171_chr11_70338570_-_117aa
MAGSQDIFDAIVMADERINPRRXSRPPSPPALLRTWLWNRGWRPSSSGPAAGASRRAQTXTLCTNAKESPXXRPLFLGAQKPRFWASLEV

>In-frame_ORAOV1_ENST00000535657_chr11_69489958_-_SHANK2_ENST00000357171_chr11_70338570_-_117aa
MAGSQDIFDAIVMADERINPRRXSRPPSPPALLRTWLWNRGWRPSSSGPAAGASRRAQTXTLCTNAKESPXXRPLFLGAQKPRFWASLEV

>In-frame_ORAOV1_ENST00000539414_chr11_69489958_-_SHANK2_ENST00000357171_chr11_70338570_-_117aa
MAGSQDIFDAIVMADERINPRRXSRPPSPPALLRTWLWNRGWRPSSSGPAAGASRRAQTXTLCTNAKESPXXRPLFLGAQKPRFWASLEV

>In-frame_ORAOV1_ENST00000542341_chr11_69489958_-_SHANK2_ENST00000357171_chr11_70338570_-_117aa
MAGSQDIFDAIVMADERINPRRXSRPPSPPALLRTWLWNRGWRPSSSGPAAGASRRAQTXTLCTNAKESPXXRPLFLGAQKPRFWASLEV


* Fusion transcript sequences (only coding sequence (CDS) region).
>In-frame_ORAOV1_ENST00000279147_chr11_69489958_-_SHANK2_ENST00000357171_chr11_70338570_-_353nt
ATGGCTGGCAGTCAGGACATATTCGATGCCATCGTGATGGCGGATGAGAGGATAAACCCGAGGAGATAGTCCCGGCCTCCAAGCCCTCCC
GCGCTGCTGAGAACATGGCTGTGGAACCGAGGGTGGCGACCATCAAGCAGCGGCCCAGCAGCCGGTGCTTCCCGGCGGGCTCAGACATGA
ACTCTGTGTACGAACGCCAAGGAATCGCCGTGATGACGCCCACTGTTCCTGGGAGCCCAAAAGCCCCGTTTCTGGGCATCCCTCGAGGTA

>In-frame_ORAOV1_ENST00000536870_chr11_69489958_-_SHANK2_ENST00000357171_chr11_70338570_-_353nt
ATGGCTGGCAGTCAGGACATATTCGATGCCATCGTGATGGCGGATGAGAGGATAAACCCGAGGAGATAGTCCCGGCCTCCAAGCCCTCCC
GCGCTGCTGAGAACATGGCTGTGGAACCGAGGGTGGCGACCATCAAGCAGCGGCCCAGCAGCCGGTGCTTCCCGGCGGGCTCAGACATGA
ACTCTGTGTACGAACGCCAAGGAATCGCCGTGATGACGCCCACTGTTCCTGGGAGCCCAAAAGCCCCGTTTCTGGGCATCCCTCGAGGTA

>In-frame_ORAOV1_ENST00000535657_chr11_69489958_-_SHANK2_ENST00000357171_chr11_70338570_-_353nt
ATGGCTGGCAGTCAGGACATATTCGATGCCATCGTGATGGCGGATGAGAGGATAAACCCGAGGAGATAGTCCCGGCCTCCAAGCCCTCCC
GCGCTGCTGAGAACATGGCTGTGGAACCGAGGGTGGCGACCATCAAGCAGCGGCCCAGCAGCCGGTGCTTCCCGGCGGGCTCAGACATGA
ACTCTGTGTACGAACGCCAAGGAATCGCCGTGATGACGCCCACTGTTCCTGGGAGCCCAAAAGCCCCGTTTCTGGGCATCCCTCGAGGTA

>In-frame_ORAOV1_ENST00000539414_chr11_69489958_-_SHANK2_ENST00000357171_chr11_70338570_-_353nt
ATGGCTGGCAGTCAGGACATATTCGATGCCATCGTGATGGCGGATGAGAGGATAAACCCGAGGAGATAGTCCCGGCCTCCAAGCCCTCCC
GCGCTGCTGAGAACATGGCTGTGGAACCGAGGGTGGCGACCATCAAGCAGCGGCCCAGCAGCCGGTGCTTCCCGGCGGGCTCAGACATGA
ACTCTGTGTACGAACGCCAAGGAATCGCCGTGATGACGCCCACTGTTCCTGGGAGCCCAAAAGCCCCGTTTCTGGGCATCCCTCGAGGTA

>In-frame_ORAOV1_ENST00000542341_chr11_69489958_-_SHANK2_ENST00000357171_chr11_70338570_-_353nt
ATGGCTGGCAGTCAGGACATATTCGATGCCATCGTGATGGCGGATGAGAGGATAAACCCGAGGAGATAGTCCCGGCCTCCAAGCCCTCCC
GCGCTGCTGAGAACATGGCTGTGGAACCGAGGGTGGCGACCATCAAGCAGCGGCCCAGCAGCCGGTGCTTCCCGGCGGGCTCAGACATGA
ACTCTGTGTACGAACGCCAAGGAATCGCCGTGATGACGCCCACTGTTCCTGGGAGCCCAAAAGCCCCGTTTCTGGGCATCCCTCGAGGTA


* Fusion transcript sequences (Full-length transcript).
>In-frame_ORAOV1_ENST00000279147_chr11_69489958_-_SHANK2_ENST00000357171_chr11_70338570_-_461nt
GGGTCTCGTCTCCTCCCAAGCGGAGCATTTGTGCCTGAAGCTGCCGGGTCTGCTACGGCACCGCGGGGCTGCAGAAACCCGGGGGCCAAG
GGCGGGCTGCTTGCCGCTATGGCTGGCAGTCAGGACATATTCGATGCCATCGTGATGGCGGATGAGAGGATAAACCCGAGGAGATAGTCC
CGGCCTCCAAGCCCTCCCGCGCTGCTGAGAACATGGCTGTGGAACCGAGGGTGGCGACCATCAAGCAGCGGCCCAGCAGCCGGTGCTTCC
CGGCGGGCTCAGACATGAACTCTGTGTACGAACGCCAAGGAATCGCCGTGATGACGCCCACTGTTCCTGGGAGCCCAAAAGCCCCGTTTC
TGGGCATCCCTCGAGGTACGATGCGAAGGCAGAAATCAATAGGTAAGAAGTGTGGCACTCCCCCACAGAAGTTGCCCCTGGGCTTTCAAA

>In-frame_ORAOV1_ENST00000536870_chr11_69489958_-_SHANK2_ENST00000357171_chr11_70338570_-_437nt
GCATTTGTGCCTGAAGCTGCCGGGTCTGCTACGGCACCGCGGGGCTGCAGAAACCCGGGGGCCAAGGGCGGGCTGCTTGCCGCTATGGCT
GGCAGTCAGGACATATTCGATGCCATCGTGATGGCGGATGAGAGGATAAACCCGAGGAGATAGTCCCGGCCTCCAAGCCCTCCCGCGCTG
CTGAGAACATGGCTGTGGAACCGAGGGTGGCGACCATCAAGCAGCGGCCCAGCAGCCGGTGCTTCCCGGCGGGCTCAGACATGAACTCTG
TGTACGAACGCCAAGGAATCGCCGTGATGACGCCCACTGTTCCTGGGAGCCCAAAAGCCCCGTTTCTGGGCATCCCTCGAGGTACGATGC

>In-frame_ORAOV1_ENST00000535657_chr11_69489958_-_SHANK2_ENST00000357171_chr11_70338570_-_435nt
ATTTGTGCCTGAAGCTGCCGGGTCTGCTACGGCACCGCGGGGCTGCAGAAACCCGGGGGCCAAGGGCGGGCTGCTTGCCGCTATGGCTGG
CAGTCAGGACATATTCGATGCCATCGTGATGGCGGATGAGAGGATAAACCCGAGGAGATAGTCCCGGCCTCCAAGCCCTCCCGCGCTGCT
GAGAACATGGCTGTGGAACCGAGGGTGGCGACCATCAAGCAGCGGCCCAGCAGCCGGTGCTTCCCGGCGGGCTCAGACATGAACTCTGTG
TACGAACGCCAAGGAATCGCCGTGATGACGCCCACTGTTCCTGGGAGCCCAAAAGCCCCGTTTCTGGGCATCCCTCGAGGTACGATGCGA

>In-frame_ORAOV1_ENST00000539414_chr11_69489958_-_SHANK2_ENST00000357171_chr11_70338570_-_436nt
CATTTGTGCCTGAAGCTGCCGGGTCTGCTACGGCACCGCGGGGCTGCAGAAACCCGGGGGCCAAGGGCGGGCTGCTTGCCGCTATGGCTG
GCAGTCAGGACATATTCGATGCCATCGTGATGGCGGATGAGAGGATAAACCCGAGGAGATAGTCCCGGCCTCCAAGCCCTCCCGCGCTGC
TGAGAACATGGCTGTGGAACCGAGGGTGGCGACCATCAAGCAGCGGCCCAGCAGCCGGTGCTTCCCGGCGGGCTCAGACATGAACTCTGT
GTACGAACGCCAAGGAATCGCCGTGATGACGCCCACTGTTCCTGGGAGCCCAAAAGCCCCGTTTCTGGGCATCCCTCGAGGTACGATGCG

>In-frame_ORAOV1_ENST00000542341_chr11_69489958_-_SHANK2_ENST00000357171_chr11_70338570_-_530nt
ACAGGCTGCTTTGGGCCCTCCCGCGTGCCGTTCTTACCCGGCCTGCCCCGCGCCGCCGCTTCCGGAAGTGGGTCTCGTCTCCTCCCAAGC
GGAGCATTTGTGCCTGAAGCTGCCGGGTCTGCTACGGCACCGCGGGGCTGCAGAAACCCGGGGGCCAAGGGCGGGCTGCTTGCCGCTATG
GCTGGCAGTCAGGACATATTCGATGCCATCGTGATGGCGGATGAGAGGATAAACCCGAGGAGATAGTCCCGGCCTCCAAGCCCTCCCGCG
CTGCTGAGAACATGGCTGTGGAACCGAGGGTGGCGACCATCAAGCAGCGGCCCAGCAGCCGGTGCTTCCCGGCGGGCTCAGACATGAACT
CTGTGTACGAACGCCAAGGAATCGCCGTGATGACGCCCACTGTTCCTGGGAGCCCAAAAGCCCCGTTTCTGGGCATCCCTCGAGGTACGA


Top

FusionGenePPI for ORAOV1_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
ORAOV1ELAVL1, CAND1, MSH3, YAE1D1, MMS19, ABCE1, TRIM25SHANK2CTTN, 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


Top

RelatedDrugs for ORAOV1_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

Top

RelatedDiseases for ORAOV1_SHANK2


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