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Center for Computational Systems Medicine
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Fusion Gene Summary

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Fusion Gene ORF analysis

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Fusion Genomic Features

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Fusion Protein Features

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Fusion Gene Sequence

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Fusion Gene PPI analysis

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Related Drugs

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Related Diseases

Fusion gene:TBL1X-CASK (FusionGDB2 ID:88892)

Fusion Gene Summary for TBL1X-CASK

check button Fusion gene summary
Fusion gene informationFusion gene name: TBL1X-CASK
Fusion gene ID: 88892
HgeneTgene
Gene symbol

TBL1X

CASK

Gene ID

6907

8573

Gene nametransducin beta like 1 X-linkedcalcium/calmodulin dependent serine protein kinase
SynonymsCHNG8|EBI|SMAP55|TBL1CAGH39|CAMGUK|CMG|FGS4|LIN2|MICPCH|MRXSNA|TNRC8|hCASK
Cytomap

Xp22.31-p22.2

Xp11.4

Type of geneprotein-codingprotein-coding
DescriptionF-box-like/WD repeat-containing protein TBL1Xtransducin beta like 1X-linkedtransducin beta-like protein 1Xtransducin-beta-like protein 1, X-linkedperipheral plasma membrane protein CASKcalcium/calmodulin-dependent serin protein kinasecalcium/calmodulin-dependent serine protein kinase (MAGUK family)calcium/calmodulin-dependent serine protein kinase membrane-associated guanylate kinaseprotein lin
Modification date2020031320200327
UniProtAcc.

Q8WXE0

Ensembl transtripts involved in fusion geneENST00000407597, ENST00000424279, 
ENST00000536365, ENST00000380961, 
ENST00000217964, ENST00000497555, 
ENST00000421587, ENST00000318588, 
ENST00000361962, ENST00000378163, 
ENST00000378158, ENST00000378166, 
ENST00000442742, ENST00000472704, 
ENST00000378154, 
Fusion gene scores* DoF score12 X 10 X 7=84015 X 14 X 9=1890
# samples 1817
** MAII scorelog2(18/840*10)=-2.22239242133645
possibly effective Gene in Pan-Cancer Fusion Genes (peGinPCFGs).
DoF>8 and MAII<0		log2(17/1890*10)=-3.47477958297073
possibly effective Gene in Pan-Cancer Fusion Genes (peGinPCFGs).
DoF>8 and MAII<0
Context

PubMed: TBL1X [Title/Abstract] AND CASK [Title/Abstract] AND fusion [Title/Abstract]

Most frequent breakpointTBL1X(9469889)-CASK(41712480), # samples:2
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
HgeneTBL1X

GO:0000122

negative regulation of transcription by RNA polymerase II

12628926

HgeneTBL1X

GO:0045893

positive regulation of transcription, DNA-templated

18193033

HgeneTBL1X

GO:0045944

positive regulation of transcription by RNA polymerase II

18193033

TgeneCASK

GO:0010839

negative regulation of keratinocyte proliferation

18664494


check buttonFusion gene breakpoints across TBL1X (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 CASK (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
ChimerDB4BRCATCGA-A1-A0SN-01ATBL1XchrX

9469889

+CASKchrX

41712480

-
ChimerDB4BRCATCGA-A1-A0SN-01ATBL1XchrX

9469889

-CASKchrX

41712480

-


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Fusion Gene ORF analysis for TBL1X-CASK

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
5UTR-3CDSENST00000407597ENST00000421587TBL1XchrX

9469889

+CASKchrX

41712480

-
5UTR-3CDSENST00000407597ENST00000318588TBL1XchrX

9469889

+CASKchrX

41712480

-
5UTR-3CDSENST00000407597ENST00000361962TBL1XchrX

9469889

+CASKchrX

41712480

-
5UTR-3CDSENST00000407597ENST00000378163TBL1XchrX

9469889

+CASKchrX

41712480

-
5UTR-3CDSENST00000407597ENST00000378158TBL1XchrX

9469889

+CASKchrX

41712480

-
5UTR-3CDSENST00000407597ENST00000378166TBL1XchrX

9469889

+CASKchrX

41712480

-
5UTR-3CDSENST00000407597ENST00000442742TBL1XchrX

9469889

+CASKchrX

41712480

-
5UTR-intronENST00000407597ENST00000472704TBL1XchrX

9469889

+CASKchrX

41712480

-
5UTR-intronENST00000407597ENST00000378154TBL1XchrX

9469889

+CASKchrX

41712480

-
5UTR-3CDSENST00000424279ENST00000421587TBL1XchrX

9469889

+CASKchrX

41712480

-
5UTR-3CDSENST00000424279ENST00000318588TBL1XchrX

9469889

+CASKchrX

41712480

-
5UTR-3CDSENST00000424279ENST00000361962TBL1XchrX

9469889

+CASKchrX

41712480

-
5UTR-3CDSENST00000424279ENST00000378163TBL1XchrX

9469889

+CASKchrX

41712480

-
5UTR-3CDSENST00000424279ENST00000378158TBL1XchrX

9469889

+CASKchrX

41712480

-
5UTR-3CDSENST00000424279ENST00000378166TBL1XchrX

9469889

+CASKchrX

41712480

-
5UTR-3CDSENST00000424279ENST00000442742TBL1XchrX

9469889

+CASKchrX

41712480

-
5UTR-intronENST00000424279ENST00000472704TBL1XchrX

9469889

+CASKchrX

41712480

-
5UTR-intronENST00000424279ENST00000378154TBL1XchrX

9469889

+CASKchrX

41712480

-
5UTR-3CDSENST00000536365ENST00000421587TBL1XchrX

9469889

+CASKchrX

41712480

-
5UTR-3CDSENST00000536365ENST00000318588TBL1XchrX

9469889

+CASKchrX

41712480

-
5UTR-3CDSENST00000536365ENST00000361962TBL1XchrX

9469889

+CASKchrX

41712480

-
5UTR-3CDSENST00000536365ENST00000378163TBL1XchrX

9469889

+CASKchrX

41712480

-
5UTR-3CDSENST00000536365ENST00000378158TBL1XchrX

9469889

+CASKchrX

41712480

-
5UTR-3CDSENST00000536365ENST00000378166TBL1XchrX

9469889

+CASKchrX

41712480

-
5UTR-3CDSENST00000536365ENST00000442742TBL1XchrX

9469889

+CASKchrX

41712480

-
5UTR-intronENST00000536365ENST00000472704TBL1XchrX

9469889

+CASKchrX

41712480

-
5UTR-intronENST00000536365ENST00000378154TBL1XchrX

9469889

+CASKchrX

41712480

-
5UTR-3CDSENST00000380961ENST00000421587TBL1XchrX

9469889

+CASKchrX

41712480

-
5UTR-3CDSENST00000380961ENST00000318588TBL1XchrX

9469889

+CASKchrX

41712480

-
5UTR-3CDSENST00000380961ENST00000361962TBL1XchrX

9469889

+CASKchrX

41712480

-
5UTR-3CDSENST00000380961ENST00000378163TBL1XchrX

9469889

+CASKchrX

41712480

-
5UTR-3CDSENST00000380961ENST00000378158TBL1XchrX

9469889

+CASKchrX

41712480

-
5UTR-3CDSENST00000380961ENST00000378166TBL1XchrX

9469889

+CASKchrX

41712480

-
5UTR-3CDSENST00000380961ENST00000442742TBL1XchrX

9469889

+CASKchrX

41712480

-
5UTR-intronENST00000380961ENST00000472704TBL1XchrX

9469889

+CASKchrX

41712480

-
5UTR-intronENST00000380961ENST00000378154TBL1XchrX

9469889

+CASKchrX

41712480

-
5UTR-3CDSENST00000217964ENST00000421587TBL1XchrX

9469889

+CASKchrX

41712480

-
5UTR-3CDSENST00000217964ENST00000318588TBL1XchrX

9469889

+CASKchrX

41712480

-
5UTR-3CDSENST00000217964ENST00000361962TBL1XchrX

9469889

+CASKchrX

41712480

-
5UTR-3CDSENST00000217964ENST00000378163TBL1XchrX

9469889

+CASKchrX

41712480

-
5UTR-3CDSENST00000217964ENST00000378158TBL1XchrX

9469889

+CASKchrX

41712480

-
5UTR-3CDSENST00000217964ENST00000378166TBL1XchrX

9469889

+CASKchrX

41712480

-
5UTR-3CDSENST00000217964ENST00000442742TBL1XchrX

9469889

+CASKchrX

41712480

-
5UTR-intronENST00000217964ENST00000472704TBL1XchrX

9469889

+CASKchrX

41712480

-
5UTR-intronENST00000217964ENST00000378154TBL1XchrX

9469889

+CASKchrX

41712480

-
intron-3CDSENST00000497555ENST00000421587TBL1XchrX

9469889

+CASKchrX

41712480

-
intron-3CDSENST00000497555ENST00000318588TBL1XchrX

9469889

+CASKchrX

41712480

-
intron-3CDSENST00000497555ENST00000361962TBL1XchrX

9469889

+CASKchrX

41712480

-
intron-3CDSENST00000497555ENST00000378163TBL1XchrX

9469889

+CASKchrX

41712480

-
intron-3CDSENST00000497555ENST00000378158TBL1XchrX

9469889

+CASKchrX

41712480

-
intron-3CDSENST00000497555ENST00000378166TBL1XchrX

9469889

+CASKchrX

41712480

-
intron-3CDSENST00000497555ENST00000442742TBL1XchrX

9469889

+CASKchrX

41712480

-
intron-intronENST00000497555ENST00000472704TBL1XchrX

9469889

+CASKchrX

41712480

-
intron-intronENST00000497555ENST00000378154TBL1XchrX

9469889

+CASKchrX

41712480

-

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

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Fusion Genomic Features for TBL1X-CASK


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.

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Fusion Protein Features for TBL1X-CASK


check button Go to

FGviewer for the breakpoints of :-:

.
- 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
.CASK

Q8WXE0

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

- In-frame and not-retained protein feature among the 13 regional features.
PartnerGeneHbpTbpENSTStrandBPexonTotalExonProtein feature loci*BPlociTotalLenProtein featureProtein feature note


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Fusion Gene Sequence for TBL1X-CASK


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.

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Fusion Gene PPI Analysis for TBL1X-CASK


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


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Related Drugs for TBL1X-CASK


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

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Related Diseases for TBL1X-CASK


check button Diseases associated with fusion partners.
(DisGeNet 4.0)
PartnerGeneDisease IDDisease name# pubmedsSource
HgeneTBL1XC1510586Autism Spectrum Disorders1CTD_human
TgeneCASKC0796250PARTINGTON X-LINKED MENTAL RETARDATION SYNDROME8CLINGEN
TgeneCASKC1845546FG SYNDROME 4 (disorder)4CTD_human;GENOMICS_ENGLAND;UNIPROT
TgeneCASKC2677903Mental Retardation And Microcephaly With Pontine And Cerebellar Hypoplasia3CTD_human;GENOMICS_ENGLAND;ORPHANET;UNIPROT
TgeneCASKC1136249Mental Retardation, X-Linked2CTD_human
TgeneCASKC0007097Carcinoma1CTD_human
TgeneCASKC0007760Cerebellar Diseases1CTD_human
TgeneCASKC0008925Cleft Palate1CTD_human
TgeneCASKC0024667Animal Mammary Neoplasms1CTD_human
TgeneCASKC0024668Mammary Neoplasms, Experimental1CTD_human
TgeneCASKC0025958Microcephaly1CTD_human
TgeneCASKC0205696Anaplastic carcinoma1CTD_human
TgeneCASKC0205697Carcinoma, Spindle-Cell1CTD_human
TgeneCASKC0205698Undifferentiated carcinoma1CTD_human
TgeneCASKC0205699Carcinomatosis1CTD_human
TgeneCASKC0393706Early infantile epileptic encephalopathy with suppression bursts1ORPHANET
TgeneCASKC1257925Mammary Carcinoma, Animal1CTD_human
TgeneCASKC1535926Neurodevelopmental Disorders1CTD_human
TgeneCASKC1837218Cleft palate, isolated1CTD_human
TgeneCASKC1956147Microlissencephaly1CTD_human
TgeneCASKC3495676Anorectal Malformations1GENOMICS_ENGLAND
TgeneCASKC3853041Severe Congenital Microcephaly1CTD_human