FusionGDB Logo

Home

Download

Statistics

Examples

Help

Contact
Center for Computational Systems Medicine
leaf

Fusion Gene Summary

leaf

Fusion Gene ORF analysis

leaf

Fusion Genomic Features

leaf

Fusion Protein Features

leaf

Fusion Gene Sequence

leaf

Fusion Gene PPI analysis

leaf

Related Drugs

leaf

Related Diseases

Fusion gene:CTTN-SHANK2 (FusionGDB2 ID:20578)

Fusion Gene Summary for CTTN-SHANK2

check button Fusion gene summary
Fusion gene informationFusion gene name: CTTN-SHANK2
Fusion gene ID: 20578
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)epididymis secretory sperm binding proteinoncogene EMS1SH3 and multiple ankyrin repeat domains protein 2GKAP/SAPAP interacting proteincortactin SH3 domain-binding proteincortactin-binding protein 1proline-rich synapse associated protein 1
Modification date2020032720200326
UniProtAcc

Q14247

.
Ensembl transtripts involved in fusion geneENST00000346329, ENST00000301843, 
ENST00000527622, ENST00000376561, 
ENST00000538675, 		ENST00000449833, 
ENST00000409161, ENST00000423696, 
ENST00000338508, ENST00000409530, 
ENST00000449116, ENST00000357171, 
ENST00000468619, 
Fusion gene scores* DoF score35 X 27 X 11=1039536 X 29 X 10=10440
# samples 4347
** MAII scorelog2(43/10395*10)=-4.59540928815627
possibly effective Gene in Pan-Cancer Fusion Genes (peGinPCFGs).
DoF>8 and MAII<0		log2(47/10440*10)=-4.47331714489225
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]

Most frequent breakpointCTTN(70256066)-SHANK2(70349036), # samples:3
Anticipated loss of major functional domain due to fusion event.CTTN-SHANK2 seems lost the major protein functional domain in Hgene partner, which is a essential gene due to the frame-shifted ORF.
CTTN-SHANK2 seems lost the major protein functional domain in Tgene partner, which is a essential gene due to the frame-shifted ORF.
* 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 buttonFusion gene breakpoints across CTTN (5'-gene)
* Click on the image to open the UCSC genome browser with custom track showing this image in a new window.

check buttonFusion gene breakpoints across SHANK2 (3'-gene)
* Click on the image to open the UCSC genome browser with custom track showing this image in a new window.

check button Fusion gene information from two resources (ChiTars 5.0 and ChimerDB 4.0)
* 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.
SourceDiseaseSampleHgeneHchrHbpHstrandTgeneTchrTbpTstrand
ChimerDB4ESCATCGA-VR-AA4GCTTNchr11

70256066

+SHANK2chr11

70349036

-
ChimerDB4ESCATCGA-VR-AA4GCTTNchr11

70256066

+SHANK2chr11

70349036

-
ChimerDB4BLCATCGA-UY-A9PH-01ACTTNchr11

70256066

+SHANK2chr11

70336492

-
ChimerDB4ESCATCGA-VR-AA4GCTTNchr11

70256066

+SHANK2chr11

70349036

-
ChimerDB4LUSCTCGA-77-8133CTTNchr11

70269101

+SHANK2chr11

70319544

-
ChimerDB4BLCATCGA-UY-A9PH-01ACTTNchr11

70256066

-SHANK2chr11

70336492

-
ChimerDB4BRCATCGA-AC-A3OD-01ACTTNchr11

70275304

+SHANK2chr11

70687785

+
ChimerDB4BRCATCGA-AC-A3OD-01ACTTNchr11

70275546

+SHANK2chr11

70683444

+


Top

Fusion Gene ORF analysis for CTTN-SHANK2

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

70349036

-
In-frameENST00000346329ENST00000409161CTTNchr11

70256066

+SHANK2chr11

70349036

-
In-frameENST00000346329ENST00000423696CTTNchr11

70256066

+SHANK2chr11

70349036

-
In-frameENST00000346329ENST00000338508CTTNchr11

70256066

+SHANK2chr11

70349036

-
In-frameENST00000346329ENST00000409530CTTNchr11

70256066

+SHANK2chr11

70349036

-
In-frameENST00000346329ENST00000449116CTTNchr11

70256066

+SHANK2chr11

70349036

-
In-frameENST00000346329ENST00000357171CTTNchr11

70256066

+SHANK2chr11

70349036

-
5CDS-intronENST00000346329ENST00000468619CTTNchr11

70256066

+SHANK2chr11

70349036

-
In-frameENST00000301843ENST00000449833CTTNchr11

70256066

+SHANK2chr11

70349036

-
In-frameENST00000301843ENST00000409161CTTNchr11

70256066

+SHANK2chr11

70349036

-
In-frameENST00000301843ENST00000423696CTTNchr11

70256066

+SHANK2chr11

70349036

-
In-frameENST00000301843ENST00000338508CTTNchr11

70256066

+SHANK2chr11

70349036

-
In-frameENST00000301843ENST00000409530CTTNchr11

70256066

+SHANK2chr11

70349036

-
In-frameENST00000301843ENST00000449116CTTNchr11

70256066

+SHANK2chr11

70349036

-
In-frameENST00000301843ENST00000357171CTTNchr11

70256066

+SHANK2chr11

70349036

-
5CDS-intronENST00000301843ENST00000468619CTTNchr11

70256066

+SHANK2chr11

70349036

-
3UTR-3CDSENST00000527622ENST00000449833CTTNchr11

70256066

+SHANK2chr11

70349036

-
3UTR-3CDSENST00000527622ENST00000409161CTTNchr11

70256066

+SHANK2chr11

70349036

-
3UTR-3CDSENST00000527622ENST00000423696CTTNchr11

70256066

+SHANK2chr11

70349036

-
3UTR-3CDSENST00000527622ENST00000338508CTTNchr11

70256066

+SHANK2chr11

70349036

-
3UTR-3CDSENST00000527622ENST00000409530CTTNchr11

70256066

+SHANK2chr11

70349036

-
3UTR-3CDSENST00000527622ENST00000449116CTTNchr11

70256066

+SHANK2chr11

70349036

-
3UTR-3CDSENST00000527622ENST00000357171CTTNchr11

70256066

+SHANK2chr11

70349036

-
3UTR-intronENST00000527622ENST00000468619CTTNchr11

70256066

+SHANK2chr11

70349036

-
In-frameENST00000376561ENST00000449833CTTNchr11

70256066

+SHANK2chr11

70349036

-
In-frameENST00000376561ENST00000409161CTTNchr11

70256066

+SHANK2chr11

70349036

-
In-frameENST00000376561ENST00000423696CTTNchr11

70256066

+SHANK2chr11

70349036

-
In-frameENST00000376561ENST00000338508CTTNchr11

70256066

+SHANK2chr11

70349036

-
In-frameENST00000376561ENST00000409530CTTNchr11

70256066

+SHANK2chr11

70349036

-
In-frameENST00000376561ENST00000449116CTTNchr11

70256066

+SHANK2chr11

70349036

-
In-frameENST00000376561ENST00000357171CTTNchr11

70256066

+SHANK2chr11

70349036

-
5CDS-intronENST00000376561ENST00000468619CTTNchr11

70256066

+SHANK2chr11

70349036

-
intron-3CDSENST00000538675ENST00000449833CTTNchr11

70256066

+SHANK2chr11

70349036

-
intron-3CDSENST00000538675ENST00000409161CTTNchr11

70256066

+SHANK2chr11

70349036

-
intron-3CDSENST00000538675ENST00000423696CTTNchr11

70256066

+SHANK2chr11

70349036

-
intron-3CDSENST00000538675ENST00000338508CTTNchr11

70256066

+SHANK2chr11

70349036

-
intron-3CDSENST00000538675ENST00000409530CTTNchr11

70256066

+SHANK2chr11

70349036

-
intron-3CDSENST00000538675ENST00000449116CTTNchr11

70256066

+SHANK2chr11

70349036

-
intron-3CDSENST00000538675ENST00000357171CTTNchr11

70256066

+SHANK2chr11

70349036

-
intron-intronENST00000538675ENST00000468619CTTNchr11

70256066

+SHANK2chr11

70349036

-
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

-
Frame-shiftENST00000346329ENST00000449833CTTNchr11

70269101

+SHANK2chr11

70319544

-
Frame-shiftENST00000346329ENST00000409161CTTNchr11

70269101

+SHANK2chr11

70319544

-
Frame-shiftENST00000346329ENST00000423696CTTNchr11

70269101

+SHANK2chr11

70319544

-
Frame-shiftENST00000346329ENST00000338508CTTNchr11

70269101

+SHANK2chr11

70319544

-
5CDS-intronENST00000346329ENST00000409530CTTNchr11

70269101

+SHANK2chr11

70319544

-
5CDS-intronENST00000346329ENST00000449116CTTNchr11

70269101

+SHANK2chr11

70319544

-
5CDS-intronENST00000346329ENST00000357171CTTNchr11

70269101

+SHANK2chr11

70319544

-
5CDS-intronENST00000346329ENST00000468619CTTNchr11

70269101

+SHANK2chr11

70319544

-
Frame-shiftENST00000301843ENST00000449833CTTNchr11

70269101

+SHANK2chr11

70319544

-
Frame-shiftENST00000301843ENST00000409161CTTNchr11

70269101

+SHANK2chr11

70319544

-
Frame-shiftENST00000301843ENST00000423696CTTNchr11

70269101

+SHANK2chr11

70319544

-
Frame-shiftENST00000301843ENST00000338508CTTNchr11

70269101

+SHANK2chr11

70319544

-
5CDS-intronENST00000301843ENST00000409530CTTNchr11

70269101

+SHANK2chr11

70319544

-
5CDS-intronENST00000301843ENST00000449116CTTNchr11

70269101

+SHANK2chr11

70319544

-
5CDS-intronENST00000301843ENST00000357171CTTNchr11

70269101

+SHANK2chr11

70319544

-
5CDS-intronENST00000301843ENST00000468619CTTNchr11

70269101

+SHANK2chr11

70319544

-
intron-3CDSENST00000527622ENST00000449833CTTNchr11

70269101

+SHANK2chr11

70319544

-
intron-3CDSENST00000527622ENST00000409161CTTNchr11

70269101

+SHANK2chr11

70319544

-
intron-3CDSENST00000527622ENST00000423696CTTNchr11

70269101

+SHANK2chr11

70319544

-
intron-3CDSENST00000527622ENST00000338508CTTNchr11

70269101

+SHANK2chr11

70319544

-
intron-intronENST00000527622ENST00000409530CTTNchr11

70269101

+SHANK2chr11

70319544

-
intron-intronENST00000527622ENST00000449116CTTNchr11

70269101

+SHANK2chr11

70319544

-
intron-intronENST00000527622ENST00000357171CTTNchr11

70269101

+SHANK2chr11

70319544

-
intron-intronENST00000527622ENST00000468619CTTNchr11

70269101

+SHANK2chr11

70319544

-
Frame-shiftENST00000376561ENST00000449833CTTNchr11

70269101

+SHANK2chr11

70319544

-
Frame-shiftENST00000376561ENST00000409161CTTNchr11

70269101

+SHANK2chr11

70319544

-
Frame-shiftENST00000376561ENST00000423696CTTNchr11

70269101

+SHANK2chr11

70319544

-
Frame-shiftENST00000376561ENST00000338508CTTNchr11

70269101

+SHANK2chr11

70319544

-
5CDS-intronENST00000376561ENST00000409530CTTNchr11

70269101

+SHANK2chr11

70319544

-
5CDS-intronENST00000376561ENST00000449116CTTNchr11

70269101

+SHANK2chr11

70319544

-
5CDS-intronENST00000376561ENST00000357171CTTNchr11

70269101

+SHANK2chr11

70319544

-
5CDS-intronENST00000376561ENST00000468619CTTNchr11

70269101

+SHANK2chr11

70319544

-
Frame-shiftENST00000538675ENST00000449833CTTNchr11

70269101

+SHANK2chr11

70319544

-
Frame-shiftENST00000538675ENST00000409161CTTNchr11

70269101

+SHANK2chr11

70319544

-
Frame-shiftENST00000538675ENST00000423696CTTNchr11

70269101

+SHANK2chr11

70319544

-
Frame-shiftENST00000538675ENST00000338508CTTNchr11

70269101

+SHANK2chr11

70319544

-
5CDS-intronENST00000538675ENST00000409530CTTNchr11

70269101

+SHANK2chr11

70319544

-
5CDS-intronENST00000538675ENST00000449116CTTNchr11

70269101

+SHANK2chr11

70319544

-
5CDS-intronENST00000538675ENST00000357171CTTNchr11

70269101

+SHANK2chr11

70319544

-
5CDS-intronENST00000538675ENST00000468619CTTNchr11

70269101

+SHANK2chr11

70319544

-
5CDS-intronENST00000346329ENST00000449833CTTNchr11

70275304

+SHANK2chr11

70687785

+
5CDS-intronENST00000346329ENST00000409161CTTNchr11

70275304

+SHANK2chr11

70687785

+
5CDS-intronENST00000346329ENST00000423696CTTNchr11

70275304

+SHANK2chr11

70687785

+
5CDS-intronENST00000346329ENST00000338508CTTNchr11

70275304

+SHANK2chr11

70687785

+
5CDS-intronENST00000346329ENST00000409530CTTNchr11

70275304

+SHANK2chr11

70687785

+
5CDS-intronENST00000346329ENST00000449116CTTNchr11

70275304

+SHANK2chr11

70687785

+
5CDS-intronENST00000346329ENST00000357171CTTNchr11

70275304

+SHANK2chr11

70687785

+
5CDS-intronENST00000346329ENST00000468619CTTNchr11

70275304

+SHANK2chr11

70687785

+
5CDS-intronENST00000301843ENST00000449833CTTNchr11

70275304

+SHANK2chr11

70687785

+
5CDS-intronENST00000301843ENST00000409161CTTNchr11

70275304

+SHANK2chr11

70687785

+
5CDS-intronENST00000301843ENST00000423696CTTNchr11

70275304

+SHANK2chr11

70687785

+
5CDS-intronENST00000301843ENST00000338508CTTNchr11

70275304

+SHANK2chr11

70687785

+
5CDS-intronENST00000301843ENST00000409530CTTNchr11

70275304

+SHANK2chr11

70687785

+
5CDS-intronENST00000301843ENST00000449116CTTNchr11

70275304

+SHANK2chr11

70687785

+
5CDS-intronENST00000301843ENST00000357171CTTNchr11

70275304

+SHANK2chr11

70687785

+
5CDS-intronENST00000301843ENST00000468619CTTNchr11

70275304

+SHANK2chr11

70687785

+
intron-intronENST00000527622ENST00000449833CTTNchr11

70275304

+SHANK2chr11

70687785

+
intron-intronENST00000527622ENST00000409161CTTNchr11

70275304

+SHANK2chr11

70687785

+
intron-intronENST00000527622ENST00000423696CTTNchr11

70275304

+SHANK2chr11

70687785

+
intron-intronENST00000527622ENST00000338508CTTNchr11

70275304

+SHANK2chr11

70687785

+
intron-intronENST00000527622ENST00000409530CTTNchr11

70275304

+SHANK2chr11

70687785

+
intron-intronENST00000527622ENST00000449116CTTNchr11

70275304

+SHANK2chr11

70687785

+
intron-intronENST00000527622ENST00000357171CTTNchr11

70275304

+SHANK2chr11

70687785

+
intron-intronENST00000527622ENST00000468619CTTNchr11

70275304

+SHANK2chr11

70687785

+
5CDS-intronENST00000376561ENST00000449833CTTNchr11

70275304

+SHANK2chr11

70687785

+
5CDS-intronENST00000376561ENST00000409161CTTNchr11

70275304

+SHANK2chr11

70687785

+
5CDS-intronENST00000376561ENST00000423696CTTNchr11

70275304

+SHANK2chr11

70687785

+
5CDS-intronENST00000376561ENST00000338508CTTNchr11

70275304

+SHANK2chr11

70687785

+
5CDS-intronENST00000376561ENST00000409530CTTNchr11

70275304

+SHANK2chr11

70687785

+
5CDS-intronENST00000376561ENST00000449116CTTNchr11

70275304

+SHANK2chr11

70687785

+
5CDS-intronENST00000376561ENST00000357171CTTNchr11

70275304

+SHANK2chr11

70687785

+
5CDS-intronENST00000376561ENST00000468619CTTNchr11

70275304

+SHANK2chr11

70687785

+
5CDS-intronENST00000538675ENST00000449833CTTNchr11

70275304

+SHANK2chr11

70687785

+
5CDS-intronENST00000538675ENST00000409161CTTNchr11

70275304

+SHANK2chr11

70687785

+
5CDS-intronENST00000538675ENST00000423696CTTNchr11

70275304

+SHANK2chr11

70687785

+
5CDS-intronENST00000538675ENST00000338508CTTNchr11

70275304

+SHANK2chr11

70687785

+
5CDS-intronENST00000538675ENST00000409530CTTNchr11

70275304

+SHANK2chr11

70687785

+
5CDS-intronENST00000538675ENST00000449116CTTNchr11

70275304

+SHANK2chr11

70687785

+
5CDS-intronENST00000538675ENST00000357171CTTNchr11

70275304

+SHANK2chr11

70687785

+
5CDS-intronENST00000538675ENST00000468619CTTNchr11

70275304

+SHANK2chr11

70687785

+
intron-intronENST00000346329ENST00000449833CTTNchr11

70275546

+SHANK2chr11

70683444

+
intron-intronENST00000346329ENST00000409161CTTNchr11

70275546

+SHANK2chr11

70683444

+
intron-intronENST00000346329ENST00000423696CTTNchr11

70275546

+SHANK2chr11

70683444

+
intron-intronENST00000346329ENST00000338508CTTNchr11

70275546

+SHANK2chr11

70683444

+
intron-intronENST00000346329ENST00000409530CTTNchr11

70275546

+SHANK2chr11

70683444

+
intron-intronENST00000346329ENST00000449116CTTNchr11

70275546

+SHANK2chr11

70683444

+
intron-intronENST00000346329ENST00000357171CTTNchr11

70275546

+SHANK2chr11

70683444

+
intron-intronENST00000346329ENST00000468619CTTNchr11

70275546

+SHANK2chr11

70683444

+
intron-intronENST00000301843ENST00000449833CTTNchr11

70275546

+SHANK2chr11

70683444

+
intron-intronENST00000301843ENST00000409161CTTNchr11

70275546

+SHANK2chr11

70683444

+
intron-intronENST00000301843ENST00000423696CTTNchr11

70275546

+SHANK2chr11

70683444

+
intron-intronENST00000301843ENST00000338508CTTNchr11

70275546

+SHANK2chr11

70683444

+
intron-intronENST00000301843ENST00000409530CTTNchr11

70275546

+SHANK2chr11

70683444

+
intron-intronENST00000301843ENST00000449116CTTNchr11

70275546

+SHANK2chr11

70683444

+
intron-intronENST00000301843ENST00000357171CTTNchr11

70275546

+SHANK2chr11

70683444

+
intron-intronENST00000301843ENST00000468619CTTNchr11

70275546

+SHANK2chr11

70683444

+
intron-intronENST00000527622ENST00000449833CTTNchr11

70275546

+SHANK2chr11

70683444

+
intron-intronENST00000527622ENST00000409161CTTNchr11

70275546

+SHANK2chr11

70683444

+
intron-intronENST00000527622ENST00000423696CTTNchr11

70275546

+SHANK2chr11

70683444

+
intron-intronENST00000527622ENST00000338508CTTNchr11

70275546

+SHANK2chr11

70683444

+
intron-intronENST00000527622ENST00000409530CTTNchr11

70275546

+SHANK2chr11

70683444

+
intron-intronENST00000527622ENST00000449116CTTNchr11

70275546

+SHANK2chr11

70683444

+
intron-intronENST00000527622ENST00000357171CTTNchr11

70275546

+SHANK2chr11

70683444

+
intron-intronENST00000527622ENST00000468619CTTNchr11

70275546

+SHANK2chr11

70683444

+
intron-intronENST00000376561ENST00000449833CTTNchr11

70275546

+SHANK2chr11

70683444

+
intron-intronENST00000376561ENST00000409161CTTNchr11

70275546

+SHANK2chr11

70683444

+
intron-intronENST00000376561ENST00000423696CTTNchr11

70275546

+SHANK2chr11

70683444

+
intron-intronENST00000376561ENST00000338508CTTNchr11

70275546

+SHANK2chr11

70683444

+
intron-intronENST00000376561ENST00000409530CTTNchr11

70275546

+SHANK2chr11

70683444

+
intron-intronENST00000376561ENST00000449116CTTNchr11

70275546

+SHANK2chr11

70683444

+
intron-intronENST00000376561ENST00000357171CTTNchr11

70275546

+SHANK2chr11

70683444

+
intron-intronENST00000376561ENST00000468619CTTNchr11

70275546

+SHANK2chr11

70683444

+
intron-intronENST00000538675ENST00000449833CTTNchr11

70275546

+SHANK2chr11

70683444

+
intron-intronENST00000538675ENST00000409161CTTNchr11

70275546

+SHANK2chr11

70683444

+
intron-intronENST00000538675ENST00000423696CTTNchr11

70275546

+SHANK2chr11

70683444

+
intron-intronENST00000538675ENST00000338508CTTNchr11

70275546

+SHANK2chr11

70683444

+
intron-intronENST00000538675ENST00000409530CTTNchr11

70275546

+SHANK2chr11

70683444

+
intron-intronENST00000538675ENST00000449116CTTNchr11

70275546

+SHANK2chr11

70683444

+
intron-intronENST00000538675ENST00000357171CTTNchr11

70275546

+SHANK2chr11

70683444

+
intron-intronENST00000538675ENST00000468619CTTNchr11

70275546

+SHANK2chr11

70683444

+

check buttonORFfinder result based on the fusion transcript sequence of in-frame fusion genes.
HenstTenstHgeneHchrHbpHstrandTgeneTchrTbpTstrandSeq length
(transcript)		BP loci
(transcript)		Predicted start
(transcript)		Predicted stop
(transcript)		Seq length
(amino acids)

check buttonDeepORF prediction of the coding potential based on the fusion transcript sequence of in-frame fusion genes. DeepORF is a coding potential classifier based on convolutional neural network by comparing the real Ribo-seq data. If the no-coding score < 0.5 and coding score > 0.5, then the in-frame fusion transcript is predicted as being likely translated.
HenstTenstHgeneHchrHbpHstrandTgeneTchrTbpTstrandNo-coding scoreCoding score

Top

Fusion Genomic Features for CTTN-SHANK2


check buttonFusionAI prediction of the potential fusion gene breakpoint based on the pre-mature RNA sequence context (+/- 5kb of individual partner genes, total 20kb length sequence). FusionAI is a fusion gene breakpoint classifier based on convolutional neural network by comparing the fusion positive and negative sequence context of ~ 20K fusion gene data. From here, we can have the relative potentency of the 20K genomic sequence how individual sequnce will be likely used as the gene fusion breakpoints.
HgeneHchrHbpHstrandTgeneTchrTbpTstrand1-pp (fusion gene breakpoint)

check buttonDistribution of 44 human genomic features loci across 20kb length fusion breakpoint regions. We integrated a total of 44 different types of human genomic feature loci information across five big categories including virus integration sites, repeats, structural variants, chromatin states, and gene expression regulation. More details are in help page.

check buttonDistribution of 44 human genomic features loci across 20kb length fusion breakpoint regions that are ovelapped with the top 1% feature importance score regions. More details are in help page.

Top

Fusion Protein Features for CTTN-SHANK2


check button Go to

FGviewer for the breakpoints of chr11:70256066-chr11:70349036

.
- FGviewer provides the online visualization of the retention search of the protein functional features across DNA, RNA, protein, and pathological levels.
FGviewer

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

Q14247

.
FUNCTION: Contributes to the organization of the actin cytoskeleton and cell shape (PubMed:21296879). Plays a role in the formation of lamellipodia and in cell migration. Plays a role in the regulation of neuron morphology, axon growth and formation of neuronal growth cones (By similarity). Through its interaction with 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 in focal adhesion assembly and turnover (By similarity). In complex with ABL1 and MYLK regulates cortical actin-based cytoskeletal rearrangement critical to sphingosine 1-phosphate (S1P)-mediated endothelial cell (EC) barrier enhancement (PubMed:20861316). Plays a role in intracellular protein transport and endocytosis, and in modulating the levels of potassium channels present at the cell membrane (PubMed:17959782). Plays a role in receptor-mediated endocytosis via clathrin-coated pits (By similarity). Required for stabilization 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}.FUNCTION: Might normally function as a transcriptional repressor. EWS-fusion-proteins (EFPS) may play a role in the tumorigenic process. They may disturb gene expression by mimicking, or interfering with the normal function of CTD-POLII within the transcription initiation complex. They may also contribute to an aberrant activation of the fusion protein target genes.

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
TgeneSHANK2chr11:70256066chr11:70336492ENST000004236961116509_535434.01471.0Compositional biasNote=Pro-rich
TgeneSHANK2chr11:70256066chr11:70336492ENST00000449833510509_535218.01255.0Compositional biasNote=Pro-rich
TgeneSHANK2chr11:70256066chr11:70349036ENST00000423696616509_535308.01471.0Compositional biasNote=Pro-rich
TgeneSHANK2chr11:70256066chr11:70349036ENST00000449833110509_53599.01255.0Compositional biasNote=Pro-rich
TgeneSHANK2chr11:70256066chr11:70336492ENST0000042369611161407_1470434.01471.0DomainSAM
TgeneSHANK2chr11:70256066chr11:70336492ENST000004498335101407_1470218.01255.0DomainSAM
TgeneSHANK2chr11:70256066chr11:70336492ENST00000449833510247_341218.01255.0DomainPDZ
TgeneSHANK2chr11:70256066chr11:70349036ENST000004236966161407_1470308.01471.0DomainSAM
TgeneSHANK2chr11:70256066chr11:70349036ENST000004498331101407_147099.01255.0DomainSAM
TgeneSHANK2chr11:70256066chr11:70349036ENST00000449833110147_20699.01255.0DomainSH3
TgeneSHANK2chr11:70256066chr11:70349036ENST00000449833110247_34199.01255.0DomainPDZ
TgeneSHANK2chr11:70256066chr11:70336492ENST000004236961116948_954434.01471.0MotifSH3-binding
TgeneSHANK2chr11:70256066chr11:70336492ENST00000449833510948_954218.01255.0MotifSH3-binding
TgeneSHANK2chr11:70256066chr11:70349036ENST00000423696616948_954308.01471.0MotifSH3-binding
TgeneSHANK2chr11:70256066chr11:70349036ENST00000449833110948_95499.01255.0MotifSH3-binding

- In-frame and not-retained protein feature among the 13 regional features.
PartnerGeneHbpTbpENSTStrandBPexonTotalExonProtein feature loci*BPlociTotalLenProtein featureProtein feature note
HgeneCTTNchr11:70256066chr11:70336492ENST00000301843+518348_40197.0551.0Coiled coilOntology_term=ECO:0000255
HgeneCTTNchr11:70256066chr11:70336492ENST00000346329+517348_40197.0514.0Coiled coilOntology_term=ECO:0000255
HgeneCTTNchr11:70256066chr11:70336492ENST00000376561+519348_40197.0635.0Coiled coilOntology_term=ECO:0000255
HgeneCTTNchr11:70256066chr11:70349036ENST00000301843+518348_40197.0551.0Coiled coilOntology_term=ECO:0000255
HgeneCTTNchr11:70256066chr11:70349036ENST00000346329+517348_40197.0514.0Coiled coilOntology_term=ECO:0000255
HgeneCTTNchr11:70256066chr11:70349036ENST00000376561+519348_40197.0635.0Coiled coilOntology_term=ECO:0000255
HgeneCTTNchr11:70256066chr11:70336492ENST00000301843+518492_55097.0551.0DomainSH3
HgeneCTTNchr11:70256066chr11:70336492ENST00000346329+517492_55097.0514.0DomainSH3
HgeneCTTNchr11:70256066chr11:70336492ENST00000376561+519492_55097.0635.0DomainSH3
HgeneCTTNchr11:70256066chr11:70349036ENST00000301843+518492_55097.0551.0DomainSH3
HgeneCTTNchr11:70256066chr11:70349036ENST00000346329+517492_55097.0514.0DomainSH3
HgeneCTTNchr11:70256066chr11:70349036ENST00000376561+519492_55097.0635.0DomainSH3
HgeneCTTNchr11:70256066chr11:70336492ENST00000301843+518117_15397.0551.0RepeatNote=Cortactin 2
HgeneCTTNchr11:70256066chr11:70336492ENST00000301843+518154_19097.0551.0RepeatNote=Cortactin 3
HgeneCTTNchr11:70256066chr11:70336492ENST00000301843+518191_22797.0551.0RepeatNote=Cortactin 4
HgeneCTTNchr11:70256066chr11:70336492ENST00000301843+518228_26497.0551.0RepeatNote=Cortactin 5
HgeneCTTNchr11:70256066chr11:70336492ENST00000301843+518265_30197.0551.0RepeatNote=Cortactin 6
HgeneCTTNchr11:70256066chr11:70336492ENST00000301843+518302_32497.0551.0RepeatNote=Cortactin 7%3B truncated
HgeneCTTNchr11:70256066chr11:70336492ENST00000301843+51880_11697.0551.0RepeatNote=Cortactin 1
HgeneCTTNchr11:70256066chr11:70336492ENST00000346329+517117_15397.0514.0RepeatNote=Cortactin 2
HgeneCTTNchr11:70256066chr11:70336492ENST00000346329+517154_19097.0514.0RepeatNote=Cortactin 3
HgeneCTTNchr11:70256066chr11:70336492ENST00000346329+517191_22797.0514.0RepeatNote=Cortactin 4
HgeneCTTNchr11:70256066chr11:70336492ENST00000346329+517228_26497.0514.0RepeatNote=Cortactin 5
HgeneCTTNchr11:70256066chr11:70336492ENST00000346329+517265_30197.0514.0RepeatNote=Cortactin 6
HgeneCTTNchr11:70256066chr11:70336492ENST00000346329+517302_32497.0514.0RepeatNote=Cortactin 7%3B truncated
HgeneCTTNchr11:70256066chr11:70336492ENST00000346329+51780_11697.0514.0RepeatNote=Cortactin 1
HgeneCTTNchr11:70256066chr11:70336492ENST00000376561+519117_15397.0635.0RepeatNote=Cortactin 2
HgeneCTTNchr11:70256066chr11:70336492ENST00000376561+519154_19097.0635.0RepeatNote=Cortactin 3
HgeneCTTNchr11:70256066chr11:70336492ENST00000376561+519191_22797.0635.0RepeatNote=Cortactin 4
HgeneCTTNchr11:70256066chr11:70336492ENST00000376561+519228_26497.0635.0RepeatNote=Cortactin 5
HgeneCTTNchr11:70256066chr11:70336492ENST00000376561+519265_30197.0635.0RepeatNote=Cortactin 6
HgeneCTTNchr11:70256066chr11:70336492ENST00000376561+519302_32497.0635.0RepeatNote=Cortactin 7%3B truncated
HgeneCTTNchr11:70256066chr11:70336492ENST00000376561+51980_11697.0635.0RepeatNote=Cortactin 1
HgeneCTTNchr11:70256066chr11:70349036ENST00000301843+518117_15397.0551.0RepeatNote=Cortactin 2
HgeneCTTNchr11:70256066chr11:70349036ENST00000301843+518154_19097.0551.0RepeatNote=Cortactin 3
HgeneCTTNchr11:70256066chr11:70349036ENST00000301843+518191_22797.0551.0RepeatNote=Cortactin 4
HgeneCTTNchr11:70256066chr11:70349036ENST00000301843+518228_26497.0551.0RepeatNote=Cortactin 5
HgeneCTTNchr11:70256066chr11:70349036ENST00000301843+518265_30197.0551.0RepeatNote=Cortactin 6
HgeneCTTNchr11:70256066chr11:70349036ENST00000301843+518302_32497.0551.0RepeatNote=Cortactin 7%3B truncated
HgeneCTTNchr11:70256066chr11:70349036ENST00000301843+51880_11697.0551.0RepeatNote=Cortactin 1
HgeneCTTNchr11:70256066chr11:70349036ENST00000346329+517117_15397.0514.0RepeatNote=Cortactin 2
HgeneCTTNchr11:70256066chr11:70349036ENST00000346329+517154_19097.0514.0RepeatNote=Cortactin 3
HgeneCTTNchr11:70256066chr11:70349036ENST00000346329+517191_22797.0514.0RepeatNote=Cortactin 4
HgeneCTTNchr11:70256066chr11:70349036ENST00000346329+517228_26497.0514.0RepeatNote=Cortactin 5
HgeneCTTNchr11:70256066chr11:70349036ENST00000346329+517265_30197.0514.0RepeatNote=Cortactin 6
HgeneCTTNchr11:70256066chr11:70349036ENST00000346329+517302_32497.0514.0RepeatNote=Cortactin 7%3B truncated
HgeneCTTNchr11:70256066chr11:70349036ENST00000346329+51780_11697.0514.0RepeatNote=Cortactin 1
HgeneCTTNchr11:70256066chr11:70349036ENST00000376561+519117_15397.0635.0RepeatNote=Cortactin 2
HgeneCTTNchr11:70256066chr11:70349036ENST00000376561+519154_19097.0635.0RepeatNote=Cortactin 3
HgeneCTTNchr11:70256066chr11:70349036ENST00000376561+519191_22797.0635.0RepeatNote=Cortactin 4
HgeneCTTNchr11:70256066chr11:70349036ENST00000376561+519228_26497.0635.0RepeatNote=Cortactin 5
HgeneCTTNchr11:70256066chr11:70349036ENST00000376561+519265_30197.0635.0RepeatNote=Cortactin 6
HgeneCTTNchr11:70256066chr11:70349036ENST00000376561+519302_32497.0635.0RepeatNote=Cortactin 7%3B truncated
HgeneCTTNchr11:70256066chr11:70349036ENST00000376561+51980_11697.0635.0RepeatNote=Cortactin 1
TgeneSHANK2chr11:70256066chr11:70336492ENST000004236961116147_206434.01471.0DomainSH3
TgeneSHANK2chr11:70256066chr11:70336492ENST000004236961116247_341434.01471.0DomainPDZ
TgeneSHANK2chr11:70256066chr11:70336492ENST00000449833510147_206218.01255.0DomainSH3
TgeneSHANK2chr11:70256066chr11:70349036ENST00000423696616147_206308.01471.0DomainSH3
TgeneSHANK2chr11:70256066chr11:70349036ENST00000423696616247_341308.01471.0DomainPDZ


Top

Fusion Gene Sequence for CTTN-SHANK2


check button For in-frame fusion transcripts, we provide the fusion transcript sequences and fusion amino acid sequences. To have fusion amino acid sequence, we ran ORFfinder and chose the longest ORF among the all predicted ones.

Top

Fusion Gene PPI Analysis 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


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

Related Drugs for CTTN-SHANK2


check button Drugs targeting genes involved in this fusion gene.
(DrugBank Version 5.1.8 2021-05-08)
PartnerGeneUniProtAccDrugBank IDDrug nameDrug activityDrug typeDrug status

Top

Related Diseases for CTTN-SHANK2


check button Diseases associated with fusion partners.
(DisGeNet 4.0)
PartnerGeneDisease IDDisease name# pubmedsSource
HgeneCTTNC0007137Squamous cell carcinoma1CTD_human
HgeneCTTNC0023531Leukoplakia1CTD_human
HgeneCTTNC0087031Juvenile-Onset Still Disease1CTD_human
HgeneCTTNC1704317Leukokeratosis1CTD_human
HgeneCTTNC3495559Juvenile arthritis1CTD_human
HgeneCTTNC3714758Juvenile psoriatic arthritis1CTD_human
HgeneCTTNC4552091Polyarthritis, Juvenile, Rheumatoid Factor Negative1CTD_human
HgeneCTTNC4704862Polyarthritis, Juvenile, Rheumatoid Factor Positive1CTD_human
TgeneSHANK2C0004352Autistic Disorder2CTD_human
TgeneSHANK2C0005586Bipolar Disorder1CTD_human
TgeneSHANK2C0005587Depression, Bipolar1CTD_human
TgeneSHANK2C0020796Profound Mental Retardation1CTD_human
TgeneSHANK2C0024713Manic Disorder1CTD_human
TgeneSHANK2C0025363Mental Retardation, Psychosocial1CTD_human
TgeneSHANK2C0338831Manic1CTD_human
TgeneSHANK2C0917816Mental deficiency1CTD_human
TgeneSHANK2C3150693AUTISM, SUSCEPTIBILITY TO, 171GENOMICS_ENGLAND
TgeneSHANK2C3714756Intellectual Disability1CTD_human