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:CABLES1-ANK1 (FusionGDB2 ID:12242)

Fusion Gene Summary for CABLES1-ANK1

check button Fusion gene summary
Fusion gene informationFusion gene name: CABLES1-ANK1
Fusion gene ID: 12242
HgeneTgene
Gene symbol

CABLES1

ANK1

Gene ID

91768

286

Gene nameCdk5 and Abl enzyme substrate 1ankyrin 1
SynonymsCABL1|CABLES|HsT2563|IK3-1ANK|SPH1|SPH2
Cytomap

18q11.2

8p11.21

Type of geneprotein-codingprotein-coding
DescriptionCDK5 and ABL1 enzyme substrate 1interactor with CDK3 1ankyrin-1ANK-1ankyrin 1, erythrocyticankyrin-Rerythrocyte ankyrin
Modification date2020031320200313
UniProtAcc

Q8TDN4

P16157

Ensembl transtripts involved in fusion geneENST00000256925, ENST00000400473, 
ENST00000420687, ENST00000585061, 
ENST00000265709, ENST00000289734, 
ENST00000314214, ENST00000347528, 
ENST00000352337, ENST00000379758, 
ENST00000396942, ENST00000396945, 
ENST00000457297, ENST00000521407, 
ENST00000522231, ENST00000522543, 
Fusion gene scores* DoF score16 X 13 X 3=62415 X 9 X 9=1215
# samples 2118
** MAII scorelog2(21/624*10)=-1.57115670119613
possibly effective Gene in Pan-Cancer Fusion Genes (peGinPCFGs).
DoF>8 and MAII<0		log2(18/1215*10)=-2.75488750216347
possibly effective Gene in Pan-Cancer Fusion Genes (peGinPCFGs).
DoF>8 and MAII<0
Context

PubMed: CABLES1 [Title/Abstract] AND ANK1 [Title/Abstract] AND fusion [Title/Abstract]

Most frequent breakpointCABLES1(20808704)-ANK1(41549578), # samples:1
Anticipated loss of major functional domain due to fusion event.
* 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
TgeneANK1

GO:0006888

ER to Golgi vesicle-mediated transport

18768923


check buttonFusion gene breakpoints across CABLES1 (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 ANK1 (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
ChiTaRS5.0N/AAA533014CABLES1chr18

20808704

-ANK1chr8

41549578

+


Top

Fusion Gene ORF analysis for CABLES1-ANK1

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-intronENST00000256925ENST00000265709CABLES1chr18

20808704

-ANK1chr8

41549578

+
intron-intronENST00000256925ENST00000289734CABLES1chr18

20808704

-ANK1chr8

41549578

+
intron-intronENST00000256925ENST00000314214CABLES1chr18

20808704

-ANK1chr8

41549578

+
intron-intronENST00000256925ENST00000347528CABLES1chr18

20808704

-ANK1chr8

41549578

+
intron-intronENST00000256925ENST00000352337CABLES1chr18

20808704

-ANK1chr8

41549578

+
intron-intronENST00000256925ENST00000379758CABLES1chr18

20808704

-ANK1chr8

41549578

+
intron-intronENST00000256925ENST00000396942CABLES1chr18

20808704

-ANK1chr8

41549578

+
intron-intronENST00000256925ENST00000396945CABLES1chr18

20808704

-ANK1chr8

41549578

+
intron-intronENST00000256925ENST00000457297CABLES1chr18

20808704

-ANK1chr8

41549578

+
intron-intronENST00000256925ENST00000521407CABLES1chr18

20808704

-ANK1chr8

41549578

+
intron-intronENST00000256925ENST00000522231CABLES1chr18

20808704

-ANK1chr8

41549578

+
intron-intronENST00000256925ENST00000522543CABLES1chr18

20808704

-ANK1chr8

41549578

+
intron-intronENST00000400473ENST00000265709CABLES1chr18

20808704

-ANK1chr8

41549578

+
intron-intronENST00000400473ENST00000289734CABLES1chr18

20808704

-ANK1chr8

41549578

+
intron-intronENST00000400473ENST00000314214CABLES1chr18

20808704

-ANK1chr8

41549578

+
intron-intronENST00000400473ENST00000347528CABLES1chr18

20808704

-ANK1chr8

41549578

+
intron-intronENST00000400473ENST00000352337CABLES1chr18

20808704

-ANK1chr8

41549578

+
intron-intronENST00000400473ENST00000379758CABLES1chr18

20808704

-ANK1chr8

41549578

+
intron-intronENST00000400473ENST00000396942CABLES1chr18

20808704

-ANK1chr8

41549578

+
intron-intronENST00000400473ENST00000396945CABLES1chr18

20808704

-ANK1chr8

41549578

+
intron-intronENST00000400473ENST00000457297CABLES1chr18

20808704

-ANK1chr8

41549578

+
intron-intronENST00000400473ENST00000521407CABLES1chr18

20808704

-ANK1chr8

41549578

+
intron-intronENST00000400473ENST00000522231CABLES1chr18

20808704

-ANK1chr8

41549578

+
intron-intronENST00000400473ENST00000522543CABLES1chr18

20808704

-ANK1chr8

41549578

+
intron-intronENST00000420687ENST00000265709CABLES1chr18

20808704

-ANK1chr8

41549578

+
intron-intronENST00000420687ENST00000289734CABLES1chr18

20808704

-ANK1chr8

41549578

+
intron-intronENST00000420687ENST00000314214CABLES1chr18

20808704

-ANK1chr8

41549578

+
intron-intronENST00000420687ENST00000347528CABLES1chr18

20808704

-ANK1chr8

41549578

+
intron-intronENST00000420687ENST00000352337CABLES1chr18

20808704

-ANK1chr8

41549578

+
intron-intronENST00000420687ENST00000379758CABLES1chr18

20808704

-ANK1chr8

41549578

+
intron-intronENST00000420687ENST00000396942CABLES1chr18

20808704

-ANK1chr8

41549578

+
intron-intronENST00000420687ENST00000396945CABLES1chr18

20808704

-ANK1chr8

41549578

+
intron-intronENST00000420687ENST00000457297CABLES1chr18

20808704

-ANK1chr8

41549578

+
intron-intronENST00000420687ENST00000521407CABLES1chr18

20808704

-ANK1chr8

41549578

+
intron-intronENST00000420687ENST00000522231CABLES1chr18

20808704

-ANK1chr8

41549578

+
intron-intronENST00000420687ENST00000522543CABLES1chr18

20808704

-ANK1chr8

41549578

+
intron-intronENST00000585061ENST00000265709CABLES1chr18

20808704

-ANK1chr8

41549578

+
intron-intronENST00000585061ENST00000289734CABLES1chr18

20808704

-ANK1chr8

41549578

+
intron-intronENST00000585061ENST00000314214CABLES1chr18

20808704

-ANK1chr8

41549578

+
intron-intronENST00000585061ENST00000347528CABLES1chr18

20808704

-ANK1chr8

41549578

+
intron-intronENST00000585061ENST00000352337CABLES1chr18

20808704

-ANK1chr8

41549578

+
intron-intronENST00000585061ENST00000379758CABLES1chr18

20808704

-ANK1chr8

41549578

+
intron-intronENST00000585061ENST00000396942CABLES1chr18

20808704

-ANK1chr8

41549578

+
intron-intronENST00000585061ENST00000396945CABLES1chr18

20808704

-ANK1chr8

41549578

+
intron-intronENST00000585061ENST00000457297CABLES1chr18

20808704

-ANK1chr8

41549578

+
intron-intronENST00000585061ENST00000521407CABLES1chr18

20808704

-ANK1chr8

41549578

+
intron-intronENST00000585061ENST00000522231CABLES1chr18

20808704

-ANK1chr8

41549578

+
intron-intronENST00000585061ENST00000522543CABLES1chr18

20808704

-ANK1chr8

41549578

+

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 CABLES1-ANK1


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 CABLES1-ANK1


check button Four levels of functional features of fusion genes
Go to FGviewer search page for the most frequent breakpoint (https://ccsmweb.uth.edu/FGviewer/:20808704/:41549578)
- FGviewer provides the online visualization of the retention search of the protein functional features across DNA, RNA, protein, and pathological levels.
- How to search
1. Put your fusion gene symbol.
2. Press the tab key until there will be shown the breakpoint information filled.
4. Go down and press 'Search' tab twice.
4. Go down to have the hyperlink of the search result.
5. Click the hyperlink.
6. See the FGviewer result for your fusion gene.
FGviewer

check buttonMain function of each fusion partner protein. (from UniProt)
HgeneTgene
CABLES1

Q8TDN4

ANK1

P16157

FUNCTION: Cyclin-dependent kinase binding protein. Enhances cyclin-dependent kinase tyrosine phosphorylation by nonreceptor tyrosine kinases, such as that of CDK5 by activated ABL1, which leads to increased CDK5 activity and is critical for neuronal development, and that of CDK2 by WEE1, which leads to decreased CDK2 activity and growth inhibition. Positively affects neuronal outgrowth. Plays a role as a regulator for p53/p73-induced cell death (By similarity). {ECO:0000250}.FUNCTION: Attaches integral membrane proteins to cytoskeletal elements; binds to the erythrocyte membrane protein band 4.2, to Na-K ATPase, to the lymphocyte membrane protein GP85, and to the cytoskeletal proteins fodrin, tubulin, vimentin and desmin. Erythrocyte ankyrins also link spectrin (beta chain) to the cytoplasmic domain of the erythrocytes anion exchange protein; they retain most or all of these binding functions. {ECO:0000269|PubMed:12456646}.; FUNCTION: [Isoform Mu17]: Together with obscurin in skeletal muscle may provide a molecular link between the sarcoplasmic reticulum and myofibrils. {ECO:0000269|PubMed:12527750}.

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

Fusion Gene Sequence for CABLES1-ANK1


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 CABLES1-ANK1


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 CABLES1-ANK1


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 CABLES1-ANK1


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