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: 8957

FusionGeneSummary for CTTN_SHANK2

check button Fusion gene summary
Fusion gene informationFusion gene name: CTTN_SHANK2
Fusion gene ID: 8957
HgeneTgene
Gene symbol

CTTN

SHANK2

Gene ID

2017

22941

Gene namecortactinSH3 and multiple ankyrin repeat domains 2
SynonymsEMS1AUTS17|CORTBP1|CTTNBP1|ProSAP1|SHANK|SPANK-3
Cytomap

11q13.3

11q13.3-q13.4

Type of geneprotein-codingprotein-coding
Descriptionsrc substrate cortactin1110020L01Rikamplaxinems1 sequence (mammary tumor and squamous cell carcinoma-associated (p80/85 src substrate)oncogene EMS1SH3 and multiple ankyrin repeat domains protein 2GKAP/SAPAP interacting proteincortactin SH3 domain-binding proteincortactin-binding protein 1proline-rich synapse associated protein 1
Modification date2018052220180523
UniProtAcc

Q14247

Q9UPX8

Ensembl transtripts involved in fusion geneENST00000346329, ENST00000301843, 
ENST00000527622, ENST00000376561, 
ENST00000538675, 		ENST00000449833, 
ENST00000409161, ENST00000423696, 
ENST00000338508, ENST00000409530, 
ENST00000449116, ENST00000357171, 
ENST00000468619, 
Fusion gene scores* DoF score24 X 15 X 9=324027 X 15 X 8=3240
# samples 2630
** MAII scorelog2(26/3240*10)=-3.63941028474353
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: CTTN [Title/Abstract] AND SHANK2 [Title/Abstract] AND fusion [Title/Abstract]

Functional or gene categories assigned by FusionGDB annotationOncogene involved fusion gene, in-frame and 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

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
TCGARVBLCATCGA-UY-A9PH-01ACTTNchr11

70256066

+SHANK2chr11

70336492

-
* 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
In-frameENST00000346329ENST00000449833CTTNchr11

70256066

+SHANK2chr11

70336492

-
In-frameENST00000346329ENST00000409161CTTNchr11

70256066

+SHANK2chr11

70336492

-
In-frameENST00000346329ENST00000423696CTTNchr11

70256066

+SHANK2chr11

70336492

-
In-frameENST00000346329ENST00000338508CTTNchr11

70256066

+SHANK2chr11

70336492

-
Frame-shiftENST00000346329ENST00000409530CTTNchr11

70256066

+SHANK2chr11

70336492

-
In-frameENST00000346329ENST00000449116CTTNchr11

70256066

+SHANK2chr11

70336492

-
Frame-shiftENST00000346329ENST00000357171CTTNchr11

70256066

+SHANK2chr11

70336492

-
5CDS-intronENST00000346329ENST00000468619CTTNchr11

70256066

+SHANK2chr11

70336492

-
In-frameENST00000301843ENST00000449833CTTNchr11

70256066

+SHANK2chr11

70336492

-
In-frameENST00000301843ENST00000409161CTTNchr11

70256066

+SHANK2chr11

70336492

-
In-frameENST00000301843ENST00000423696CTTNchr11

70256066

+SHANK2chr11

70336492

-
In-frameENST00000301843ENST00000338508CTTNchr11

70256066

+SHANK2chr11

70336492

-
Frame-shiftENST00000301843ENST00000409530CTTNchr11

70256066

+SHANK2chr11

70336492

-
In-frameENST00000301843ENST00000449116CTTNchr11

70256066

+SHANK2chr11

70336492

-
Frame-shiftENST00000301843ENST00000357171CTTNchr11

70256066

+SHANK2chr11

70336492

-
5CDS-intronENST00000301843ENST00000468619CTTNchr11

70256066

+SHANK2chr11

70336492

-
3UTR-3CDSENST00000527622ENST00000449833CTTNchr11

70256066

+SHANK2chr11

70336492

-
3UTR-3CDSENST00000527622ENST00000409161CTTNchr11

70256066

+SHANK2chr11

70336492

-
3UTR-3CDSENST00000527622ENST00000423696CTTNchr11

70256066

+SHANK2chr11

70336492

-
3UTR-3CDSENST00000527622ENST00000338508CTTNchr11

70256066

+SHANK2chr11

70336492

-
3UTR-3CDSENST00000527622ENST00000409530CTTNchr11

70256066

+SHANK2chr11

70336492

-
3UTR-3CDSENST00000527622ENST00000449116CTTNchr11

70256066

+SHANK2chr11

70336492

-
3UTR-3CDSENST00000527622ENST00000357171CTTNchr11

70256066

+SHANK2chr11

70336492

-
3UTR-intronENST00000527622ENST00000468619CTTNchr11

70256066

+SHANK2chr11

70336492

-
In-frameENST00000376561ENST00000449833CTTNchr11

70256066

+SHANK2chr11

70336492

-
In-frameENST00000376561ENST00000409161CTTNchr11

70256066

+SHANK2chr11

70336492

-
In-frameENST00000376561ENST00000423696CTTNchr11

70256066

+SHANK2chr11

70336492

-
In-frameENST00000376561ENST00000338508CTTNchr11

70256066

+SHANK2chr11

70336492

-
Frame-shiftENST00000376561ENST00000409530CTTNchr11

70256066

+SHANK2chr11

70336492

-
In-frameENST00000376561ENST00000449116CTTNchr11

70256066

+SHANK2chr11

70336492

-
Frame-shiftENST00000376561ENST00000357171CTTNchr11

70256066

+SHANK2chr11

70336492

-
5CDS-intronENST00000376561ENST00000468619CTTNchr11

70256066

+SHANK2chr11

70336492

-
intron-3CDSENST00000538675ENST00000449833CTTNchr11

70256066

+SHANK2chr11

70336492

-
intron-3CDSENST00000538675ENST00000409161CTTNchr11

70256066

+SHANK2chr11

70336492

-
intron-3CDSENST00000538675ENST00000423696CTTNchr11

70256066

+SHANK2chr11

70336492

-
intron-3CDSENST00000538675ENST00000338508CTTNchr11

70256066

+SHANK2chr11

70336492

-
intron-3CDSENST00000538675ENST00000409530CTTNchr11

70256066

+SHANK2chr11

70336492

-
intron-3CDSENST00000538675ENST00000449116CTTNchr11

70256066

+SHANK2chr11

70336492

-
intron-3CDSENST00000538675ENST00000357171CTTNchr11

70256066

+SHANK2chr11

70336492

-
intron-intronENST00000538675ENST00000468619CTTNchr11

70256066

+SHANK2chr11

70336492

-

Top

FusionProtFeatures for CTTN_SHANK2


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

Q14247

SHANK2

Q9UPX8

Contributes to the organization of the actincytoskeleton and cell shape (PubMed:21296879). Plays a role in theformation of lamellipodia and in cell migration. Plays a role inthe regulation of neuron morphology, axon growth and formation ofneuronal growth cones (By similarity). Through its interactionwith CTTNBP2, involved in the regulation of neuronal spine density(By similarity). Plays a role in the invasiveness of cancer cells,and the formation of metastases (PubMed:16636290). Plays a role infocal adhesion assembly and turnover (By similarity). In complexwith ABL1 and MYLK regulates cortical actin-based cytoskeletalrearrangement critical to sphingosine 1-phosphate (S1P)-mediatedendothelial cell (EC) barrier enhancement (PubMed:20861316). Playsa role in intracellular protein transport and endocytosis, and inmodulating the levels of potassium channels present at the cellmembrane (PubMed:17959782). Plays a role in receptor-mediatedendocytosis via clathrin-coated pits (By similarity). Required forstabilization of KCNH1 channels at the cell membrane(PubMed:23144454). {ECO:0000250|UniProtKB:Q60598,ECO:0000250|UniProtKB:Q66HL2, ECO:0000269|PubMed:16636290,ECO:0000269|PubMed:17959782, ECO:0000269|PubMed:21296879,ECO:0000269|PubMed:23144454}. 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
TgeneSHANK2chr11:70256066chr11:70336492ENST00000423696-1116509_5354341471Compositional biasNote=Pro-rich
TgeneSHANK2chr11:70256066chr11:70336492ENST00000449833-510509_5352181255Compositional biasNote=Pro-rich
TgeneSHANK2chr11:70256066chr11:70336492ENST00000423696-11161407_14704341471DomainSAM
TgeneSHANK2chr11:70256066chr11:70336492ENST00000449833-5101407_14702181255DomainSAM
TgeneSHANK2chr11:70256066chr11:70336492ENST00000449833-510247_3412181255DomainPDZ
TgeneSHANK2chr11:70256066chr11:70336492ENST00000423696-1116948_9544341471MotifSH3-binding
TgeneSHANK2chr11:70256066chr11:70336492ENST00000449833-510948_9542181255MotifSH3-binding

- In-frame and not-retained protein feature among the 13 regional features.
>>>>>>>>>>>>>>>>>>>>>>>>>>>
PartnerGeneHbpTbpENSTStrandBPexonTotalExonProtein feature loci*BPlociTotalLenProtein featureProtein feature note
HgeneCTTNchr11:70256066chr11:70336492ENST00000301843+518348_40197551Coiled coilOntology_term=ECO:0000255
HgeneCTTNchr11:70256066chr11:70336492ENST00000346329+517348_40197514Coiled coilOntology_term=ECO:0000255
HgeneCTTNchr11:70256066chr11:70336492ENST00000376561+519348_40197635Coiled coilOntology_term=ECO:0000255
HgeneCTTNchr11:70256066chr11:70336492ENST00000301843+518492_55097551DomainSH3
HgeneCTTNchr11:70256066chr11:70336492ENST00000346329+517492_55097514DomainSH3
HgeneCTTNchr11:70256066chr11:70336492ENST00000376561+519492_55097635DomainSH3
HgeneCTTNchr11:70256066chr11:70336492ENST00000301843+518117_15397551RepeatNote=Cortactin 2
HgeneCTTNchr11:70256066chr11:70336492ENST00000301843+518154_19097551RepeatNote=Cortactin 3
HgeneCTTNchr11:70256066chr11:70336492ENST00000301843+518191_22797551RepeatNote=Cortactin 4
HgeneCTTNchr11:70256066chr11:70336492ENST00000301843+518228_26497551RepeatNote=Cortactin 5
HgeneCTTNchr11:70256066chr11:70336492ENST00000301843+518265_30197551RepeatNote=Cortactin 6
HgeneCTTNchr11:70256066chr11:70336492ENST00000301843+518302_32497551RepeatNote=Cortactin 7%3B truncated
HgeneCTTNchr11:70256066chr11:70336492ENST00000301843+51880_11697551RepeatNote=Cortactin 1
HgeneCTTNchr11:70256066chr11:70336492ENST00000346329+517117_15397514RepeatNote=Cortactin 2
HgeneCTTNchr11:70256066chr11:70336492ENST00000346329+517154_19097514RepeatNote=Cortactin 3
HgeneCTTNchr11:70256066chr11:70336492ENST00000346329+517191_22797514RepeatNote=Cortactin 4
HgeneCTTNchr11:70256066chr11:70336492ENST00000346329+517228_26497514RepeatNote=Cortactin 5
HgeneCTTNchr11:70256066chr11:70336492ENST00000346329+517265_30197514RepeatNote=Cortactin 6
HgeneCTTNchr11:70256066chr11:70336492ENST00000346329+517302_32497514RepeatNote=Cortactin 7%3B truncated
HgeneCTTNchr11:70256066chr11:70336492ENST00000346329+51780_11697514RepeatNote=Cortactin 1
HgeneCTTNchr11:70256066chr11:70336492ENST00000376561+519117_15397635RepeatNote=Cortactin 2
HgeneCTTNchr11:70256066chr11:70336492ENST00000376561+519154_19097635RepeatNote=Cortactin 3
HgeneCTTNchr11:70256066chr11:70336492ENST00000376561+519191_22797635RepeatNote=Cortactin 4
HgeneCTTNchr11:70256066chr11:70336492ENST00000376561+519228_26497635RepeatNote=Cortactin 5
HgeneCTTNchr11:70256066chr11:70336492ENST00000376561+519265_30197635RepeatNote=Cortactin 6
HgeneCTTNchr11:70256066chr11:70336492ENST00000376561+519302_32497635RepeatNote=Cortactin 7%3B truncated
HgeneCTTNchr11:70256066chr11:70336492ENST00000376561+51980_11697635RepeatNote=Cortactin 1
TgeneSHANK2chr11:70256066chr11:70336492ENST00000423696-1116147_2064341471DomainSH3
TgeneSHANK2chr11:70256066chr11:70336492ENST00000423696-1116247_3414341471DomainPDZ
TgeneSHANK2chr11:70256066chr11:70336492ENST00000449833-510147_2062181255DomainSH3


Top

FusionGeneSequence for CTTN_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).

Top

FusionGenePPI for CTTN_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
CTTNSHANK2, WIPF1, CTNND1, CHD3, FER, WASL, ARHGAP17, CRB2, CASP3, MYLK, ACTR2, ACTR3, ARPC2, ARPC4, ARPC3, KCNA2, SYK, SDC3, SIRT1, EP300, HDAC6, RAD21, BTRC, ELAVL1, ARRB1, ARRB2, CD2AP, ASAP1, SH3PXD2A, PTK2, TINF2, ACD, CBLL1, CUL3, PXN, TNK2, GRB2, SDHAF2, SART3, THY1, PLAUR, UBL4A, SUCLG2, OXCT1, ABI1, NONO, CORO1B, DNM2, ATF2, NCF1, PAN2, NPM1, LMNA, ACTG1, APEH, ATG7, ATP6V1C1, CTNNA1, GARS, IDE, ME1, RDX, SHMT1, SHMT2, SSB, STAT1, VTA1, GSPT1, GSPT2, SARS, SNX1, SNX2, UGDH, RPA3, RPA2, RPA1, CTTN, CDC37, SPRR2A, OBSL1, EGFR, COPS7A, HEXIM1, MYO1E, USO1, NTRK1, EWSR1, CAPZA2, DBN1, FLNA, KIFC3, MLH1, MYH9, PPP1CB, IQGAP1, SYNCRIP, SYNPO, MYO5C, MYO19, NOP9, MYO18A, TRIM15, NEDD9, SNW1, KCNA3, SMURF1, YES1, CDH1, PDHA1, TES, KEAP1, TXNIPSHANK2CTTN, 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 CTTN_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 CTTN_SHANK2


check button Diseases associated with fusion partners.
(DisGeNet 4.0)
PartnerGeneDisease IDDisease name# pubmedsSource
HgeneCTTNC0007137Squamous cell carcinoma1CTD_human
HgeneCTTNC0023531Leukoplakia1CTD_human
HgeneCTTNC3495559Juvenile arthritis1CTD_human
TgeneSHANK2C0004352Autistic Disorder2CTD_human
TgeneSHANK2C3714756Intellectual Disability1CTD_human