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	Fusion Gene Summary
	Fusion Gene ORF analysis
	Fusion Genomic Features
	Fusion Protein Features
	Fusion Gene Sequence
	Fusion Gene PPI analysis
	Related Drugs
	Related Diseases

Fusion gene:CASK-CASK (FusionGDB2 ID:13189)

Fusion Gene Summary for CASK-CASK

Fusion gene summary

Fusion gene information	Fusion gene name: CASK-CASK
	Fusion gene ID: 13189
		Hgene	Tgene
	Gene symbol	CASK	CASK
	Gene ID	8573	8573
	Gene name	calcium/calmodulin dependent serine protein kinase	calcium/calmodulin dependent serine protein kinase
	Synonyms	CAGH39\|CAMGUK\|CMG\|FGS4\|LIN2\|MICPCH\|MRXSNA\|TNRC8\|hCASK	CAGH39\|CAMGUK\|CMG\|FGS4\|LIN2\|MICPCH\|MRXSNA\|TNRC8\|hCASK
	Cytomap	Xp11.4	Xp11.4
	Type of gene	protein-coding	protein-coding
	Description	peripheral 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	peripheral 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 date	20200327	20200327
	UniProtAcc	O14936	Q8WXE0
	Ensembl transtripts involved in fusion gene	ENST00000318588, ENST00000361962, ENST00000378154, ENST00000378158, ENST00000378163, ENST00000378166, ENST00000421587, ENST00000442742, ENST00000472704,	ENST00000318588, ENST00000361962, ENST00000378158, ENST00000378163, ENST00000378166, ENST00000421587, ENST00000442742, ENST00000378154, ENST00000472704,
Fusion gene scores	* DoF score	13 X 12 X 5=780	15 X 14 X 9=1890
	# samples	14	17
	** MAII score	log2(14/780*10)=-2.47804729680464 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: CASK [Title/Abstract] AND CASK [Title/Abstract] AND fusion [Title/Abstract]
Most frequent breakpoint	CASK(41413071)-CASK(41394214), # samples:1 CASK(41530785)-CASK(41519692), # 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)

Gene ontology of each fusion partner gene with evidence of Inferred from Direct Assay (IDA) from Entrez

Partner	Gene	GO ID	GO term	PubMed ID
Hgene	CASK	GO:0010839	negative regulation of keratinocyte proliferation	18664494
Tgene	CASK	GO:0010839	negative regulation of keratinocyte proliferation	18664494

Fusion gene breakpoints across CASK (5'-gene)
* Click on the image to open the UCSC genome browser with custom track showing this image in a new window.

Fusion 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.

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.

Source	Disease	Sample	Hgene	Hchr	Hbp	Hstrand	Tgene	Tchr	Tbp	Tstrand
ChiTaRS5.0	N/A	BF759957	CASK	chrX	41413071	+	CASK	chrX	41394214	-
ChiTaRS5.0	N/A	BI062469	CASK	chrX	41530785	+	CASK	chrX	41519692	+

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Fusion Gene ORF analysis for CASK-CASK

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.

ORF	Henst	Tenst	Hgene	Hchr	Hbp	Hstrand	Tgene	Tchr	Tbp	Tstrand
intron-3CDS	ENST00000318588	ENST00000318588	CASK	chrX	41413071	+	CASK	chrX	41394214	-
intron-3CDS	ENST00000318588	ENST00000361962	CASK	chrX	41413071	+	CASK	chrX	41394214	-
intron-3CDS	ENST00000318588	ENST00000378158	CASK	chrX	41413071	+	CASK	chrX	41394214	-
intron-3CDS	ENST00000318588	ENST00000378163	CASK	chrX	41413071	+	CASK	chrX	41394214	-
intron-3CDS	ENST00000318588	ENST00000378166	CASK	chrX	41413071	+	CASK	chrX	41394214	-
intron-3CDS	ENST00000318588	ENST00000421587	CASK	chrX	41413071	+	CASK	chrX	41394214	-
intron-3CDS	ENST00000318588	ENST00000442742	CASK	chrX	41413071	+	CASK	chrX	41394214	-
intron-3CDS	ENST00000361962	ENST00000318588	CASK	chrX	41413071	+	CASK	chrX	41394214	-
intron-3CDS	ENST00000361962	ENST00000361962	CASK	chrX	41413071	+	CASK	chrX	41394214	-
intron-3CDS	ENST00000361962	ENST00000378158	CASK	chrX	41413071	+	CASK	chrX	41394214	-
intron-3CDS	ENST00000361962	ENST00000378163	CASK	chrX	41413071	+	CASK	chrX	41394214	-
intron-3CDS	ENST00000361962	ENST00000378166	CASK	chrX	41413071	+	CASK	chrX	41394214	-
intron-3CDS	ENST00000361962	ENST00000421587	CASK	chrX	41413071	+	CASK	chrX	41394214	-
intron-3CDS	ENST00000361962	ENST00000442742	CASK	chrX	41413071	+	CASK	chrX	41394214	-
intron-3CDS	ENST00000378154	ENST00000318588	CASK	chrX	41413071	+	CASK	chrX	41394214	-
intron-3CDS	ENST00000378154	ENST00000361962	CASK	chrX	41413071	+	CASK	chrX	41394214	-
intron-3CDS	ENST00000378154	ENST00000378158	CASK	chrX	41413071	+	CASK	chrX	41394214	-
intron-3CDS	ENST00000378154	ENST00000378163	CASK	chrX	41413071	+	CASK	chrX	41394214	-
intron-3CDS	ENST00000378154	ENST00000378166	CASK	chrX	41413071	+	CASK	chrX	41394214	-
intron-3CDS	ENST00000378154	ENST00000421587	CASK	chrX	41413071	+	CASK	chrX	41394214	-
intron-3CDS	ENST00000378154	ENST00000442742	CASK	chrX	41413071	+	CASK	chrX	41394214	-
intron-3CDS	ENST00000378158	ENST00000318588	CASK	chrX	41413071	+	CASK	chrX	41394214	-
intron-3CDS	ENST00000378158	ENST00000361962	CASK	chrX	41413071	+	CASK	chrX	41394214	-
intron-3CDS	ENST00000378158	ENST00000378158	CASK	chrX	41413071	+	CASK	chrX	41394214	-
intron-3CDS	ENST00000378158	ENST00000378163	CASK	chrX	41413071	+	CASK	chrX	41394214	-
intron-3CDS	ENST00000378158	ENST00000378166	CASK	chrX	41413071	+	CASK	chrX	41394214	-
intron-3CDS	ENST00000378158	ENST00000421587	CASK	chrX	41413071	+	CASK	chrX	41394214	-
intron-3CDS	ENST00000378158	ENST00000442742	CASK	chrX	41413071	+	CASK	chrX	41394214	-
intron-3CDS	ENST00000378163	ENST00000318588	CASK	chrX	41413071	+	CASK	chrX	41394214	-
intron-3CDS	ENST00000378163	ENST00000361962	CASK	chrX	41413071	+	CASK	chrX	41394214	-
intron-3CDS	ENST00000378163	ENST00000378158	CASK	chrX	41413071	+	CASK	chrX	41394214	-
intron-3CDS	ENST00000378163	ENST00000378163	CASK	chrX	41413071	+	CASK	chrX	41394214	-
intron-3CDS	ENST00000378163	ENST00000378166	CASK	chrX	41413071	+	CASK	chrX	41394214	-
intron-3CDS	ENST00000378163	ENST00000421587	CASK	chrX	41413071	+	CASK	chrX	41394214	-
intron-3CDS	ENST00000378163	ENST00000442742	CASK	chrX	41413071	+	CASK	chrX	41394214	-
intron-3CDS	ENST00000378166	ENST00000318588	CASK	chrX	41413071	+	CASK	chrX	41394214	-
intron-3CDS	ENST00000378166	ENST00000361962	CASK	chrX	41413071	+	CASK	chrX	41394214	-
intron-3CDS	ENST00000378166	ENST00000378158	CASK	chrX	41413071	+	CASK	chrX	41394214	-
intron-3CDS	ENST00000378166	ENST00000378163	CASK	chrX	41413071	+	CASK	chrX	41394214	-
intron-3CDS	ENST00000378166	ENST00000378166	CASK	chrX	41413071	+	CASK	chrX	41394214	-
intron-3CDS	ENST00000378166	ENST00000421587	CASK	chrX	41413071	+	CASK	chrX	41394214	-
intron-3CDS	ENST00000378166	ENST00000442742	CASK	chrX	41413071	+	CASK	chrX	41394214	-
intron-3CDS	ENST00000421587	ENST00000318588	CASK	chrX	41413071	+	CASK	chrX	41394214	-
intron-3CDS	ENST00000421587	ENST00000361962	CASK	chrX	41413071	+	CASK	chrX	41394214	-
intron-3CDS	ENST00000421587	ENST00000378158	CASK	chrX	41413071	+	CASK	chrX	41394214	-
intron-3CDS	ENST00000421587	ENST00000378163	CASK	chrX	41413071	+	CASK	chrX	41394214	-
intron-3CDS	ENST00000421587	ENST00000378166	CASK	chrX	41413071	+	CASK	chrX	41394214	-
intron-3CDS	ENST00000421587	ENST00000421587	CASK	chrX	41413071	+	CASK	chrX	41394214	-
intron-3CDS	ENST00000421587	ENST00000442742	CASK	chrX	41413071	+	CASK	chrX	41394214	-
intron-3CDS	ENST00000442742	ENST00000318588	CASK	chrX	41413071	+	CASK	chrX	41394214	-
intron-3CDS	ENST00000442742	ENST00000361962	CASK	chrX	41413071	+	CASK	chrX	41394214	-
intron-3CDS	ENST00000442742	ENST00000378158	CASK	chrX	41413071	+	CASK	chrX	41394214	-
intron-3CDS	ENST00000442742	ENST00000378163	CASK	chrX	41413071	+	CASK	chrX	41394214	-
intron-3CDS	ENST00000442742	ENST00000378166	CASK	chrX	41413071	+	CASK	chrX	41394214	-
intron-3CDS	ENST00000442742	ENST00000421587	CASK	chrX	41413071	+	CASK	chrX	41394214	-
intron-3CDS	ENST00000442742	ENST00000442742	CASK	chrX	41413071	+	CASK	chrX	41394214	-
intron-3CDS	ENST00000472704	ENST00000318588	CASK	chrX	41413071	+	CASK	chrX	41394214	-
intron-3CDS	ENST00000472704	ENST00000361962	CASK	chrX	41413071	+	CASK	chrX	41394214	-
intron-3CDS	ENST00000472704	ENST00000378158	CASK	chrX	41413071	+	CASK	chrX	41394214	-
intron-3CDS	ENST00000472704	ENST00000378163	CASK	chrX	41413071	+	CASK	chrX	41394214	-
intron-3CDS	ENST00000472704	ENST00000378166	CASK	chrX	41413071	+	CASK	chrX	41394214	-
intron-3CDS	ENST00000472704	ENST00000421587	CASK	chrX	41413071	+	CASK	chrX	41394214	-
intron-3CDS	ENST00000472704	ENST00000442742	CASK	chrX	41413071	+	CASK	chrX	41394214	-
intron-intron	ENST00000318588	ENST00000318588	CASK	chrX	41530785	+	CASK	chrX	41519692	+
intron-intron	ENST00000318588	ENST00000361962	CASK	chrX	41530785	+	CASK	chrX	41519692	+
intron-intron	ENST00000318588	ENST00000378154	CASK	chrX	41413071	+	CASK	chrX	41394214	-
intron-intron	ENST00000318588	ENST00000378154	CASK	chrX	41530785	+	CASK	chrX	41519692	+
intron-intron	ENST00000318588	ENST00000378158	CASK	chrX	41530785	+	CASK	chrX	41519692	+
intron-intron	ENST00000318588	ENST00000378163	CASK	chrX	41530785	+	CASK	chrX	41519692	+
intron-intron	ENST00000318588	ENST00000378166	CASK	chrX	41530785	+	CASK	chrX	41519692	+
intron-intron	ENST00000318588	ENST00000421587	CASK	chrX	41530785	+	CASK	chrX	41519692	+
intron-intron	ENST00000318588	ENST00000442742	CASK	chrX	41530785	+	CASK	chrX	41519692	+
intron-intron	ENST00000318588	ENST00000472704	CASK	chrX	41413071	+	CASK	chrX	41394214	-
intron-intron	ENST00000318588	ENST00000472704	CASK	chrX	41530785	+	CASK	chrX	41519692	+
intron-intron	ENST00000361962	ENST00000318588	CASK	chrX	41530785	+	CASK	chrX	41519692	+
intron-intron	ENST00000361962	ENST00000361962	CASK	chrX	41530785	+	CASK	chrX	41519692	+
intron-intron	ENST00000361962	ENST00000378154	CASK	chrX	41413071	+	CASK	chrX	41394214	-
intron-intron	ENST00000361962	ENST00000378154	CASK	chrX	41530785	+	CASK	chrX	41519692	+
intron-intron	ENST00000361962	ENST00000378158	CASK	chrX	41530785	+	CASK	chrX	41519692	+
intron-intron	ENST00000361962	ENST00000378163	CASK	chrX	41530785	+	CASK	chrX	41519692	+
intron-intron	ENST00000361962	ENST00000378166	CASK	chrX	41530785	+	CASK	chrX	41519692	+
intron-intron	ENST00000361962	ENST00000421587	CASK	chrX	41530785	+	CASK	chrX	41519692	+
intron-intron	ENST00000361962	ENST00000442742	CASK	chrX	41530785	+	CASK	chrX	41519692	+
intron-intron	ENST00000361962	ENST00000472704	CASK	chrX	41413071	+	CASK	chrX	41394214	-
intron-intron	ENST00000361962	ENST00000472704	CASK	chrX	41530785	+	CASK	chrX	41519692	+
intron-intron	ENST00000378154	ENST00000318588	CASK	chrX	41530785	+	CASK	chrX	41519692	+
intron-intron	ENST00000378154	ENST00000361962	CASK	chrX	41530785	+	CASK	chrX	41519692	+
intron-intron	ENST00000378154	ENST00000378154	CASK	chrX	41413071	+	CASK	chrX	41394214	-
intron-intron	ENST00000378154	ENST00000378154	CASK	chrX	41530785	+	CASK	chrX	41519692	+
intron-intron	ENST00000378154	ENST00000378158	CASK	chrX	41530785	+	CASK	chrX	41519692	+
intron-intron	ENST00000378154	ENST00000378163	CASK	chrX	41530785	+	CASK	chrX	41519692	+
intron-intron	ENST00000378154	ENST00000378166	CASK	chrX	41530785	+	CASK	chrX	41519692	+
intron-intron	ENST00000378154	ENST00000421587	CASK	chrX	41530785	+	CASK	chrX	41519692	+
intron-intron	ENST00000378154	ENST00000442742	CASK	chrX	41530785	+	CASK	chrX	41519692	+
intron-intron	ENST00000378154	ENST00000472704	CASK	chrX	41413071	+	CASK	chrX	41394214	-
intron-intron	ENST00000378154	ENST00000472704	CASK	chrX	41530785	+	CASK	chrX	41519692	+
intron-intron	ENST00000378158	ENST00000318588	CASK	chrX	41530785	+	CASK	chrX	41519692	+
intron-intron	ENST00000378158	ENST00000361962	CASK	chrX	41530785	+	CASK	chrX	41519692	+
intron-intron	ENST00000378158	ENST00000378154	CASK	chrX	41413071	+	CASK	chrX	41394214	-
intron-intron	ENST00000378158	ENST00000378154	CASK	chrX	41530785	+	CASK	chrX	41519692	+
intron-intron	ENST00000378158	ENST00000378158	CASK	chrX	41530785	+	CASK	chrX	41519692	+
intron-intron	ENST00000378158	ENST00000378163	CASK	chrX	41530785	+	CASK	chrX	41519692	+
intron-intron	ENST00000378158	ENST00000378166	CASK	chrX	41530785	+	CASK	chrX	41519692	+
intron-intron	ENST00000378158	ENST00000421587	CASK	chrX	41530785	+	CASK	chrX	41519692	+
intron-intron	ENST00000378158	ENST00000442742	CASK	chrX	41530785	+	CASK	chrX	41519692	+
intron-intron	ENST00000378158	ENST00000472704	CASK	chrX	41413071	+	CASK	chrX	41394214	-
intron-intron	ENST00000378158	ENST00000472704	CASK	chrX	41530785	+	CASK	chrX	41519692	+
intron-intron	ENST00000378163	ENST00000318588	CASK	chrX	41530785	+	CASK	chrX	41519692	+
intron-intron	ENST00000378163	ENST00000361962	CASK	chrX	41530785	+	CASK	chrX	41519692	+
intron-intron	ENST00000378163	ENST00000378154	CASK	chrX	41413071	+	CASK	chrX	41394214	-
intron-intron	ENST00000378163	ENST00000378154	CASK	chrX	41530785	+	CASK	chrX	41519692	+
intron-intron	ENST00000378163	ENST00000378158	CASK	chrX	41530785	+	CASK	chrX	41519692	+
intron-intron	ENST00000378163	ENST00000378163	CASK	chrX	41530785	+	CASK	chrX	41519692	+
intron-intron	ENST00000378163	ENST00000378166	CASK	chrX	41530785	+	CASK	chrX	41519692	+
intron-intron	ENST00000378163	ENST00000421587	CASK	chrX	41530785	+	CASK	chrX	41519692	+
intron-intron	ENST00000378163	ENST00000442742	CASK	chrX	41530785	+	CASK	chrX	41519692	+
intron-intron	ENST00000378163	ENST00000472704	CASK	chrX	41413071	+	CASK	chrX	41394214	-
intron-intron	ENST00000378163	ENST00000472704	CASK	chrX	41530785	+	CASK	chrX	41519692	+
intron-intron	ENST00000378166	ENST00000318588	CASK	chrX	41530785	+	CASK	chrX	41519692	+
intron-intron	ENST00000378166	ENST00000361962	CASK	chrX	41530785	+	CASK	chrX	41519692	+
intron-intron	ENST00000378166	ENST00000378154	CASK	chrX	41413071	+	CASK	chrX	41394214	-
intron-intron	ENST00000378166	ENST00000378154	CASK	chrX	41530785	+	CASK	chrX	41519692	+
intron-intron	ENST00000378166	ENST00000378158	CASK	chrX	41530785	+	CASK	chrX	41519692	+
intron-intron	ENST00000378166	ENST00000378163	CASK	chrX	41530785	+	CASK	chrX	41519692	+
intron-intron	ENST00000378166	ENST00000378166	CASK	chrX	41530785	+	CASK	chrX	41519692	+
intron-intron	ENST00000378166	ENST00000421587	CASK	chrX	41530785	+	CASK	chrX	41519692	+
intron-intron	ENST00000378166	ENST00000442742	CASK	chrX	41530785	+	CASK	chrX	41519692	+
intron-intron	ENST00000378166	ENST00000472704	CASK	chrX	41413071	+	CASK	chrX	41394214	-
intron-intron	ENST00000378166	ENST00000472704	CASK	chrX	41530785	+	CASK	chrX	41519692	+
intron-intron	ENST00000421587	ENST00000318588	CASK	chrX	41530785	+	CASK	chrX	41519692	+
intron-intron	ENST00000421587	ENST00000361962	CASK	chrX	41530785	+	CASK	chrX	41519692	+
intron-intron	ENST00000421587	ENST00000378154	CASK	chrX	41413071	+	CASK	chrX	41394214	-
intron-intron	ENST00000421587	ENST00000378154	CASK	chrX	41530785	+	CASK	chrX	41519692	+
intron-intron	ENST00000421587	ENST00000378158	CASK	chrX	41530785	+	CASK	chrX	41519692	+
intron-intron	ENST00000421587	ENST00000378163	CASK	chrX	41530785	+	CASK	chrX	41519692	+
intron-intron	ENST00000421587	ENST00000378166	CASK	chrX	41530785	+	CASK	chrX	41519692	+
intron-intron	ENST00000421587	ENST00000421587	CASK	chrX	41530785	+	CASK	chrX	41519692	+
intron-intron	ENST00000421587	ENST00000442742	CASK	chrX	41530785	+	CASK	chrX	41519692	+
intron-intron	ENST00000421587	ENST00000472704	CASK	chrX	41413071	+	CASK	chrX	41394214	-
intron-intron	ENST00000421587	ENST00000472704	CASK	chrX	41530785	+	CASK	chrX	41519692	+
intron-intron	ENST00000442742	ENST00000318588	CASK	chrX	41530785	+	CASK	chrX	41519692	+
intron-intron	ENST00000442742	ENST00000361962	CASK	chrX	41530785	+	CASK	chrX	41519692	+
intron-intron	ENST00000442742	ENST00000378154	CASK	chrX	41413071	+	CASK	chrX	41394214	-
intron-intron	ENST00000442742	ENST00000378154	CASK	chrX	41530785	+	CASK	chrX	41519692	+
intron-intron	ENST00000442742	ENST00000378158	CASK	chrX	41530785	+	CASK	chrX	41519692	+
intron-intron	ENST00000442742	ENST00000378163	CASK	chrX	41530785	+	CASK	chrX	41519692	+
intron-intron	ENST00000442742	ENST00000378166	CASK	chrX	41530785	+	CASK	chrX	41519692	+
intron-intron	ENST00000442742	ENST00000421587	CASK	chrX	41530785	+	CASK	chrX	41519692	+
intron-intron	ENST00000442742	ENST00000442742	CASK	chrX	41530785	+	CASK	chrX	41519692	+
intron-intron	ENST00000442742	ENST00000472704	CASK	chrX	41413071	+	CASK	chrX	41394214	-
intron-intron	ENST00000442742	ENST00000472704	CASK	chrX	41530785	+	CASK	chrX	41519692	+
intron-intron	ENST00000472704	ENST00000318588	CASK	chrX	41530785	+	CASK	chrX	41519692	+
intron-intron	ENST00000472704	ENST00000361962	CASK	chrX	41530785	+	CASK	chrX	41519692	+
intron-intron	ENST00000472704	ENST00000378154	CASK	chrX	41413071	+	CASK	chrX	41394214	-
intron-intron	ENST00000472704	ENST00000378154	CASK	chrX	41530785	+	CASK	chrX	41519692	+
intron-intron	ENST00000472704	ENST00000378158	CASK	chrX	41530785	+	CASK	chrX	41519692	+
intron-intron	ENST00000472704	ENST00000378163	CASK	chrX	41530785	+	CASK	chrX	41519692	+
intron-intron	ENST00000472704	ENST00000378166	CASK	chrX	41530785	+	CASK	chrX	41519692	+
intron-intron	ENST00000472704	ENST00000421587	CASK	chrX	41530785	+	CASK	chrX	41519692	+
intron-intron	ENST00000472704	ENST00000442742	CASK	chrX	41530785	+	CASK	chrX	41519692	+
intron-intron	ENST00000472704	ENST00000472704	CASK	chrX	41413071	+	CASK	chrX	41394214	-
intron-intron	ENST00000472704	ENST00000472704	CASK	chrX	41530785	+	CASK	chrX	41519692	+

ORFfinder result based on the fusion transcript sequence of in-frame fusion genes.

Henst

Tenst

Hgene

Hchr

Hbp

Hstrand

Tgene

Tchr

Tbp

Tstrand

Seq length
(transcript)

BP loci
(transcript)

Predicted start
(transcript)

Predicted stop
(transcript)

Seq length
(amino acids)

DeepORF 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.

Henst

Tenst

Hgene

Hchr

Hbp

Hstrand

Tgene

Tchr

Tbp

Tstrand

No-coding score

Coding score

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Fusion Genomic Features for CASK-CASK

FusionAI 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.

Hgene	Hchr	Hbp	Hstrand	Tgene	Tchr	Tbp	Tstrand	1-p	p (fusion gene breakpoint)
CASK	chrX	41530783	+	CASK	chrX	41519691	+	0.99999976	1.97E-07
CASK	chrX	41530783	+	CASK	chrX	41519691	+	0.99999976	1.97E-07

Distribution 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.

Distribution 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 CASK-CASK

Four levels of functional features of fusion genes
Go to FGviewer search page for the most frequent breakpoint (https://ccsmweb.uth.edu/FGviewer/:41413071/:41394214)
- 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.

Main function of each fusion partner protein. (from UniProt)

Hgene	Tgene
CASK O14936	CASK Q8WXE0
FUNCTION: Multidomain scaffolding protein with a role in synaptic transmembrane protein anchoring and ion channel trafficking. Contributes to neural development and regulation of gene expression via interaction with the transcription factor TBR1. Binds to cell-surface proteins, including amyloid precursor protein, neurexins and syndecans. May mediate a link between the extracellular matrix and the actin cytoskeleton via its interaction with syndecan and with the actin/spectrin-binding protein 4.1. Component of the LIN-10-LIN-2-LIN-7 complex, which associates with the motor protein KIF17 to transport vesicles containing N-methyl-D-aspartate (NMDA) receptor subunit NR2B along microtubules (By similarity). {ECO:0000250\|UniProtKB:O70589}.

Retention 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.

Partner

Gene

Hbp

Tbp

ENST

Strand

BPexon

TotalExon

Protein feature loci

*BPloci

TotalLen

Protein feature

Protein feature note

- In-frame and not-retained protein feature among the 13 regional features.

Partner

Gene

Hbp

Tbp

ENST

Strand

BPexon

TotalExon

Protein feature loci

*BPloci

TotalLen

Protein feature

Protein feature note

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Fusion Gene Sequence for CASK-CASK

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 CASK-CASK

Go to ChiPPI (Chimeric Protein-Protein interactions) to see the chimeric PPI interaction in
ChiPPI page.

Protein-protein interactors with each fusion partner protein in wild-type (BIOGRID-3.4.160)

Hgene

Hgene's interactors

Tgene

Tgene's interactors

- Retained PPIs in in-frame fusion.

Partner

Gene

Hbp

Tbp

ENST

Strand

BPexon

TotalExon

Protein feature loci

*BPloci

TotalLen

Still interaction with

- Lost PPIs in in-frame fusion.

Partner

Gene

Hbp

Tbp

ENST

Strand

BPexon

TotalExon

Protein feature loci

*BPloci

TotalLen

Interaction lost with

- Retained PPIs, but lost function due to frame-shift fusion.

Partner

Gene

Hbp

Tbp

ENST

Strand

BPexon

TotalExon

Protein feature loci

*BPloci

TotalLen

Interaction lost with

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Related Drugs for CASK-CASK

Drugs targeting genes involved in this fusion gene.
(DrugBank Version 5.1.8 2021-05-08)

Partner

Gene

UniProtAcc

DrugBank ID

Drug name

Drug activity

Drug type

Drug status

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Related Diseases for CASK-CASK

Diseases associated with fusion partners.
(DisGeNet 4.0)

Partner

Gene

Disease ID

Disease name

# pubmeds

Source