Home

Download

Statistics

Examples

Help

Contact

	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:HELLS-CDH23 (FusionGDB2 ID:36074)

Fusion Gene Summary for HELLS-CDH23

Fusion gene summary

Fusion gene information	Fusion gene name: HELLS-CDH23
	Fusion gene ID: 36074
		Hgene	Tgene
	Gene symbol	HELLS	CDH23
	Gene ID	3070	64072
	Gene name	helicase, lymphoid specific	cadherin related 23
	Synonyms	ICF4\|LSH\|Nbla10143\|PASG\|SMARCA6	CDHR23\|PITA5\|USH1D
	Cytomap	10q23.33	10q22.1
	Type of gene	protein-coding	protein-coding
	Description	lymphoid-specific helicaseSWI/SNF2-related, matrix-associated, actin-dependent regulator of chromatin, subfamily A, member 6proliferation-associated SNF2-like protein	cadherin-23cadherin-like 23cadherin-related family member 23otocadherin
	Modification date	20200322	20200320
	UniProtAcc	Q9NRZ9	Q9H251
	Ensembl transtripts involved in fusion gene	ENST00000239026, ENST00000394036, ENST00000348459, ENST00000371332, ENST00000394044, ENST00000394045, ENST00000462057,	ENST00000224721, ENST00000299366, ENST00000398788, ENST00000398809, ENST00000398842, ENST00000461841, ENST00000475158,
Fusion gene scores	* DoF score	7 X 8 X 4=224	11 X 10 X 6=660
	# samples	7	12
	** MAII score	log2(7/224*10)=-1.67807190511264 possibly effective Gene in Pan-Cancer Fusion Genes (peGinPCFGs). DoF>8 and MAII<0	log2(12/660*10)=-2.4594316186373 possibly effective Gene in Pan-Cancer Fusion Genes (peGinPCFGs). DoF>8 and MAII<0
Context	PubMed: HELLS [Title/Abstract] AND CDH23 [Title/Abstract] AND fusion [Title/Abstract]
Most frequent breakpoint	HELLS(96336562)-CDH23(73434868), # 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)

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

Fusion gene breakpoints across HELLS (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 CDH23 (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
ChimerDB4	READ	TCGA-AG-A020	HELLS	chr10	96336466	+	CDH23	chr10	73434869	+
ChimerDB4	READ	TCGA-AG-A020	HELLS	chr10	96336562	+	CDH23	chr10	73434868	+
ChimerDB4	READ	TCGA-AG-A020	HELLS	chr10	96336562	+	CDH23	chr10	73434869	+

Top

Fusion Gene ORF analysis for HELLS-CDH23

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
3UTR-intron	ENST00000239026	ENST00000224721	HELLS	chr10	96336466	+	CDH23	chr10	73434869	+
3UTR-intron	ENST00000239026	ENST00000224721	HELLS	chr10	96336562	+	CDH23	chr10	73434868	+
3UTR-intron	ENST00000239026	ENST00000224721	HELLS	chr10	96336562	+	CDH23	chr10	73434869	+
3UTR-intron	ENST00000239026	ENST00000299366	HELLS	chr10	96336466	+	CDH23	chr10	73434869	+
3UTR-intron	ENST00000239026	ENST00000299366	HELLS	chr10	96336562	+	CDH23	chr10	73434868	+
3UTR-intron	ENST00000239026	ENST00000299366	HELLS	chr10	96336562	+	CDH23	chr10	73434869	+
3UTR-intron	ENST00000239026	ENST00000398788	HELLS	chr10	96336466	+	CDH23	chr10	73434869	+
3UTR-intron	ENST00000239026	ENST00000398788	HELLS	chr10	96336562	+	CDH23	chr10	73434868	+
3UTR-intron	ENST00000239026	ENST00000398788	HELLS	chr10	96336562	+	CDH23	chr10	73434869	+
3UTR-intron	ENST00000239026	ENST00000398809	HELLS	chr10	96336466	+	CDH23	chr10	73434869	+
3UTR-intron	ENST00000239026	ENST00000398809	HELLS	chr10	96336562	+	CDH23	chr10	73434868	+
3UTR-intron	ENST00000239026	ENST00000398809	HELLS	chr10	96336562	+	CDH23	chr10	73434869	+
3UTR-intron	ENST00000239026	ENST00000398842	HELLS	chr10	96336466	+	CDH23	chr10	73434869	+
3UTR-intron	ENST00000239026	ENST00000398842	HELLS	chr10	96336562	+	CDH23	chr10	73434868	+
3UTR-intron	ENST00000239026	ENST00000398842	HELLS	chr10	96336562	+	CDH23	chr10	73434869	+
3UTR-intron	ENST00000239026	ENST00000461841	HELLS	chr10	96336466	+	CDH23	chr10	73434869	+
3UTR-intron	ENST00000239026	ENST00000461841	HELLS	chr10	96336562	+	CDH23	chr10	73434868	+
3UTR-intron	ENST00000239026	ENST00000461841	HELLS	chr10	96336562	+	CDH23	chr10	73434869	+
3UTR-intron	ENST00000239026	ENST00000475158	HELLS	chr10	96336466	+	CDH23	chr10	73434869	+
3UTR-intron	ENST00000239026	ENST00000475158	HELLS	chr10	96336562	+	CDH23	chr10	73434868	+
3UTR-intron	ENST00000239026	ENST00000475158	HELLS	chr10	96336562	+	CDH23	chr10	73434869	+
3UTR-intron	ENST00000394036	ENST00000224721	HELLS	chr10	96336466	+	CDH23	chr10	73434869	+
3UTR-intron	ENST00000394036	ENST00000224721	HELLS	chr10	96336562	+	CDH23	chr10	73434868	+
3UTR-intron	ENST00000394036	ENST00000224721	HELLS	chr10	96336562	+	CDH23	chr10	73434869	+
3UTR-intron	ENST00000394036	ENST00000299366	HELLS	chr10	96336466	+	CDH23	chr10	73434869	+
3UTR-intron	ENST00000394036	ENST00000299366	HELLS	chr10	96336562	+	CDH23	chr10	73434868	+
3UTR-intron	ENST00000394036	ENST00000299366	HELLS	chr10	96336562	+	CDH23	chr10	73434869	+
3UTR-intron	ENST00000394036	ENST00000398788	HELLS	chr10	96336466	+	CDH23	chr10	73434869	+
3UTR-intron	ENST00000394036	ENST00000398788	HELLS	chr10	96336562	+	CDH23	chr10	73434868	+
3UTR-intron	ENST00000394036	ENST00000398788	HELLS	chr10	96336562	+	CDH23	chr10	73434869	+
3UTR-intron	ENST00000394036	ENST00000398809	HELLS	chr10	96336466	+	CDH23	chr10	73434869	+
3UTR-intron	ENST00000394036	ENST00000398809	HELLS	chr10	96336562	+	CDH23	chr10	73434868	+
3UTR-intron	ENST00000394036	ENST00000398809	HELLS	chr10	96336562	+	CDH23	chr10	73434869	+
3UTR-intron	ENST00000394036	ENST00000398842	HELLS	chr10	96336466	+	CDH23	chr10	73434869	+
3UTR-intron	ENST00000394036	ENST00000398842	HELLS	chr10	96336562	+	CDH23	chr10	73434868	+
3UTR-intron	ENST00000394036	ENST00000398842	HELLS	chr10	96336562	+	CDH23	chr10	73434869	+
3UTR-intron	ENST00000394036	ENST00000461841	HELLS	chr10	96336466	+	CDH23	chr10	73434869	+
3UTR-intron	ENST00000394036	ENST00000461841	HELLS	chr10	96336562	+	CDH23	chr10	73434868	+
3UTR-intron	ENST00000394036	ENST00000461841	HELLS	chr10	96336562	+	CDH23	chr10	73434869	+
3UTR-intron	ENST00000394036	ENST00000475158	HELLS	chr10	96336466	+	CDH23	chr10	73434869	+
3UTR-intron	ENST00000394036	ENST00000475158	HELLS	chr10	96336562	+	CDH23	chr10	73434868	+
3UTR-intron	ENST00000394036	ENST00000475158	HELLS	chr10	96336562	+	CDH23	chr10	73434869	+
5CDS-intron	ENST00000348459	ENST00000224721	HELLS	chr10	96336466	+	CDH23	chr10	73434869	+
5CDS-intron	ENST00000348459	ENST00000224721	HELLS	chr10	96336562	+	CDH23	chr10	73434868	+
5CDS-intron	ENST00000348459	ENST00000224721	HELLS	chr10	96336562	+	CDH23	chr10	73434869	+
5CDS-intron	ENST00000348459	ENST00000299366	HELLS	chr10	96336466	+	CDH23	chr10	73434869	+
5CDS-intron	ENST00000348459	ENST00000299366	HELLS	chr10	96336562	+	CDH23	chr10	73434868	+
5CDS-intron	ENST00000348459	ENST00000299366	HELLS	chr10	96336562	+	CDH23	chr10	73434869	+
5CDS-intron	ENST00000348459	ENST00000398788	HELLS	chr10	96336466	+	CDH23	chr10	73434869	+
5CDS-intron	ENST00000348459	ENST00000398788	HELLS	chr10	96336562	+	CDH23	chr10	73434868	+
5CDS-intron	ENST00000348459	ENST00000398788	HELLS	chr10	96336562	+	CDH23	chr10	73434869	+
5CDS-intron	ENST00000348459	ENST00000398809	HELLS	chr10	96336466	+	CDH23	chr10	73434869	+
5CDS-intron	ENST00000348459	ENST00000398809	HELLS	chr10	96336562	+	CDH23	chr10	73434868	+
5CDS-intron	ENST00000348459	ENST00000398809	HELLS	chr10	96336562	+	CDH23	chr10	73434869	+
5CDS-intron	ENST00000348459	ENST00000398842	HELLS	chr10	96336466	+	CDH23	chr10	73434869	+
5CDS-intron	ENST00000348459	ENST00000398842	HELLS	chr10	96336562	+	CDH23	chr10	73434868	+
5CDS-intron	ENST00000348459	ENST00000398842	HELLS	chr10	96336562	+	CDH23	chr10	73434869	+
5CDS-intron	ENST00000348459	ENST00000461841	HELLS	chr10	96336466	+	CDH23	chr10	73434869	+
5CDS-intron	ENST00000348459	ENST00000461841	HELLS	chr10	96336562	+	CDH23	chr10	73434868	+
5CDS-intron	ENST00000348459	ENST00000461841	HELLS	chr10	96336562	+	CDH23	chr10	73434869	+
5CDS-intron	ENST00000348459	ENST00000475158	HELLS	chr10	96336466	+	CDH23	chr10	73434869	+
5CDS-intron	ENST00000348459	ENST00000475158	HELLS	chr10	96336562	+	CDH23	chr10	73434868	+
5CDS-intron	ENST00000348459	ENST00000475158	HELLS	chr10	96336562	+	CDH23	chr10	73434869	+
5CDS-intron	ENST00000371332	ENST00000224721	HELLS	chr10	96336466	+	CDH23	chr10	73434869	+
5CDS-intron	ENST00000371332	ENST00000224721	HELLS	chr10	96336562	+	CDH23	chr10	73434868	+
5CDS-intron	ENST00000371332	ENST00000224721	HELLS	chr10	96336562	+	CDH23	chr10	73434869	+
5CDS-intron	ENST00000371332	ENST00000299366	HELLS	chr10	96336466	+	CDH23	chr10	73434869	+
5CDS-intron	ENST00000371332	ENST00000299366	HELLS	chr10	96336562	+	CDH23	chr10	73434868	+
5CDS-intron	ENST00000371332	ENST00000299366	HELLS	chr10	96336562	+	CDH23	chr10	73434869	+
5CDS-intron	ENST00000371332	ENST00000398788	HELLS	chr10	96336466	+	CDH23	chr10	73434869	+
5CDS-intron	ENST00000371332	ENST00000398788	HELLS	chr10	96336562	+	CDH23	chr10	73434868	+
5CDS-intron	ENST00000371332	ENST00000398788	HELLS	chr10	96336562	+	CDH23	chr10	73434869	+
5CDS-intron	ENST00000371332	ENST00000398809	HELLS	chr10	96336466	+	CDH23	chr10	73434869	+
5CDS-intron	ENST00000371332	ENST00000398809	HELLS	chr10	96336562	+	CDH23	chr10	73434868	+
5CDS-intron	ENST00000371332	ENST00000398809	HELLS	chr10	96336562	+	CDH23	chr10	73434869	+
5CDS-intron	ENST00000371332	ENST00000398842	HELLS	chr10	96336466	+	CDH23	chr10	73434869	+
5CDS-intron	ENST00000371332	ENST00000398842	HELLS	chr10	96336562	+	CDH23	chr10	73434868	+
5CDS-intron	ENST00000371332	ENST00000398842	HELLS	chr10	96336562	+	CDH23	chr10	73434869	+
5CDS-intron	ENST00000371332	ENST00000461841	HELLS	chr10	96336466	+	CDH23	chr10	73434869	+
5CDS-intron	ENST00000371332	ENST00000461841	HELLS	chr10	96336562	+	CDH23	chr10	73434868	+
5CDS-intron	ENST00000371332	ENST00000461841	HELLS	chr10	96336562	+	CDH23	chr10	73434869	+
5CDS-intron	ENST00000371332	ENST00000475158	HELLS	chr10	96336466	+	CDH23	chr10	73434869	+
5CDS-intron	ENST00000371332	ENST00000475158	HELLS	chr10	96336562	+	CDH23	chr10	73434868	+
5CDS-intron	ENST00000371332	ENST00000475158	HELLS	chr10	96336562	+	CDH23	chr10	73434869	+
5CDS-intron	ENST00000394044	ENST00000224721	HELLS	chr10	96336466	+	CDH23	chr10	73434869	+
5CDS-intron	ENST00000394044	ENST00000299366	HELLS	chr10	96336466	+	CDH23	chr10	73434869	+
5CDS-intron	ENST00000394044	ENST00000398788	HELLS	chr10	96336466	+	CDH23	chr10	73434869	+
5CDS-intron	ENST00000394044	ENST00000398809	HELLS	chr10	96336466	+	CDH23	chr10	73434869	+
5CDS-intron	ENST00000394044	ENST00000398842	HELLS	chr10	96336466	+	CDH23	chr10	73434869	+
5CDS-intron	ENST00000394044	ENST00000461841	HELLS	chr10	96336466	+	CDH23	chr10	73434869	+
5CDS-intron	ENST00000394044	ENST00000475158	HELLS	chr10	96336466	+	CDH23	chr10	73434869	+
5CDS-intron	ENST00000394045	ENST00000224721	HELLS	chr10	96336466	+	CDH23	chr10	73434869	+
5CDS-intron	ENST00000394045	ENST00000224721	HELLS	chr10	96336562	+	CDH23	chr10	73434868	+
5CDS-intron	ENST00000394045	ENST00000224721	HELLS	chr10	96336562	+	CDH23	chr10	73434869	+
5CDS-intron	ENST00000394045	ENST00000299366	HELLS	chr10	96336466	+	CDH23	chr10	73434869	+
5CDS-intron	ENST00000394045	ENST00000299366	HELLS	chr10	96336562	+	CDH23	chr10	73434868	+
5CDS-intron	ENST00000394045	ENST00000299366	HELLS	chr10	96336562	+	CDH23	chr10	73434869	+
5CDS-intron	ENST00000394045	ENST00000398788	HELLS	chr10	96336466	+	CDH23	chr10	73434869	+
5CDS-intron	ENST00000394045	ENST00000398788	HELLS	chr10	96336562	+	CDH23	chr10	73434868	+
5CDS-intron	ENST00000394045	ENST00000398788	HELLS	chr10	96336562	+	CDH23	chr10	73434869	+
5CDS-intron	ENST00000394045	ENST00000398809	HELLS	chr10	96336466	+	CDH23	chr10	73434869	+
5CDS-intron	ENST00000394045	ENST00000398809	HELLS	chr10	96336562	+	CDH23	chr10	73434868	+
5CDS-intron	ENST00000394045	ENST00000398809	HELLS	chr10	96336562	+	CDH23	chr10	73434869	+
5CDS-intron	ENST00000394045	ENST00000398842	HELLS	chr10	96336466	+	CDH23	chr10	73434869	+
5CDS-intron	ENST00000394045	ENST00000398842	HELLS	chr10	96336562	+	CDH23	chr10	73434868	+
5CDS-intron	ENST00000394045	ENST00000398842	HELLS	chr10	96336562	+	CDH23	chr10	73434869	+
5CDS-intron	ENST00000394045	ENST00000461841	HELLS	chr10	96336466	+	CDH23	chr10	73434869	+
5CDS-intron	ENST00000394045	ENST00000461841	HELLS	chr10	96336562	+	CDH23	chr10	73434868	+
5CDS-intron	ENST00000394045	ENST00000461841	HELLS	chr10	96336562	+	CDH23	chr10	73434869	+
5CDS-intron	ENST00000394045	ENST00000475158	HELLS	chr10	96336466	+	CDH23	chr10	73434869	+
5CDS-intron	ENST00000394045	ENST00000475158	HELLS	chr10	96336562	+	CDH23	chr10	73434868	+
5CDS-intron	ENST00000394045	ENST00000475158	HELLS	chr10	96336562	+	CDH23	chr10	73434869	+
intron-intron	ENST00000394044	ENST00000224721	HELLS	chr10	96336562	+	CDH23	chr10	73434868	+
intron-intron	ENST00000394044	ENST00000224721	HELLS	chr10	96336562	+	CDH23	chr10	73434869	+
intron-intron	ENST00000394044	ENST00000299366	HELLS	chr10	96336562	+	CDH23	chr10	73434868	+
intron-intron	ENST00000394044	ENST00000299366	HELLS	chr10	96336562	+	CDH23	chr10	73434869	+
intron-intron	ENST00000394044	ENST00000398788	HELLS	chr10	96336562	+	CDH23	chr10	73434868	+
intron-intron	ENST00000394044	ENST00000398788	HELLS	chr10	96336562	+	CDH23	chr10	73434869	+
intron-intron	ENST00000394044	ENST00000398809	HELLS	chr10	96336562	+	CDH23	chr10	73434868	+
intron-intron	ENST00000394044	ENST00000398809	HELLS	chr10	96336562	+	CDH23	chr10	73434869	+
intron-intron	ENST00000394044	ENST00000398842	HELLS	chr10	96336562	+	CDH23	chr10	73434868	+
intron-intron	ENST00000394044	ENST00000398842	HELLS	chr10	96336562	+	CDH23	chr10	73434869	+
intron-intron	ENST00000394044	ENST00000461841	HELLS	chr10	96336562	+	CDH23	chr10	73434868	+
intron-intron	ENST00000394044	ENST00000461841	HELLS	chr10	96336562	+	CDH23	chr10	73434869	+
intron-intron	ENST00000394044	ENST00000475158	HELLS	chr10	96336562	+	CDH23	chr10	73434868	+
intron-intron	ENST00000394044	ENST00000475158	HELLS	chr10	96336562	+	CDH23	chr10	73434869	+
intron-intron	ENST00000462057	ENST00000224721	HELLS	chr10	96336466	+	CDH23	chr10	73434869	+
intron-intron	ENST00000462057	ENST00000224721	HELLS	chr10	96336562	+	CDH23	chr10	73434868	+
intron-intron	ENST00000462057	ENST00000224721	HELLS	chr10	96336562	+	CDH23	chr10	73434869	+
intron-intron	ENST00000462057	ENST00000299366	HELLS	chr10	96336466	+	CDH23	chr10	73434869	+
intron-intron	ENST00000462057	ENST00000299366	HELLS	chr10	96336562	+	CDH23	chr10	73434868	+
intron-intron	ENST00000462057	ENST00000299366	HELLS	chr10	96336562	+	CDH23	chr10	73434869	+
intron-intron	ENST00000462057	ENST00000398788	HELLS	chr10	96336466	+	CDH23	chr10	73434869	+
intron-intron	ENST00000462057	ENST00000398788	HELLS	chr10	96336562	+	CDH23	chr10	73434868	+
intron-intron	ENST00000462057	ENST00000398788	HELLS	chr10	96336562	+	CDH23	chr10	73434869	+
intron-intron	ENST00000462057	ENST00000398809	HELLS	chr10	96336466	+	CDH23	chr10	73434869	+
intron-intron	ENST00000462057	ENST00000398809	HELLS	chr10	96336562	+	CDH23	chr10	73434868	+
intron-intron	ENST00000462057	ENST00000398809	HELLS	chr10	96336562	+	CDH23	chr10	73434869	+
intron-intron	ENST00000462057	ENST00000398842	HELLS	chr10	96336466	+	CDH23	chr10	73434869	+
intron-intron	ENST00000462057	ENST00000398842	HELLS	chr10	96336562	+	CDH23	chr10	73434868	+
intron-intron	ENST00000462057	ENST00000398842	HELLS	chr10	96336562	+	CDH23	chr10	73434869	+
intron-intron	ENST00000462057	ENST00000461841	HELLS	chr10	96336466	+	CDH23	chr10	73434869	+
intron-intron	ENST00000462057	ENST00000461841	HELLS	chr10	96336562	+	CDH23	chr10	73434868	+
intron-intron	ENST00000462057	ENST00000461841	HELLS	chr10	96336562	+	CDH23	chr10	73434869	+
intron-intron	ENST00000462057	ENST00000475158	HELLS	chr10	96336466	+	CDH23	chr10	73434869	+
intron-intron	ENST00000462057	ENST00000475158	HELLS	chr10	96336562	+	CDH23	chr10	73434868	+
intron-intron	ENST00000462057	ENST00000475158	HELLS	chr10	96336562	+	CDH23	chr10	73434869	+

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

Top

Fusion Genomic Features for HELLS-CDH23

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)
HELLS	chr10	96336562	+	CDH23	chr10	73434868	+	1.08E-05	0.9999893
HELLS	chr10	96336466	+	CDH23	chr10	73434868	+	5.40E-06	0.99999464
HELLS	chr10	96336562	+	CDH23	chr10	73434868	+	1.08E-05	0.9999893
HELLS	chr10	96336466	+	CDH23	chr10	73434868	+	5.40E-06	0.99999464

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.

Top

Fusion Protein Features for HELLS-CDH23

Four levels of functional features of fusion genes
Go to FGviewer search page for the most frequent breakpoint (https://ccsmweb.uth.edu/FGviewer/:96336562/:73434868)
- 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
HELLS Q9NRZ9	CDH23 Q9H251
FUNCTION: Plays an essential role in normal development and survival. Involved in regulation of the expansion or survival of lymphoid cells. Required for de novo or maintenance DNA methylation. May control silencing of the imprinted CDKN1C gene through DNA methylation. May play a role in formation and organization of heterochromatin, implying a functional role in the regulation of transcription and mitosis (By similarity). {ECO:0000250\|UniProtKB:Q60848}.	FUNCTION: Cadherins are calcium-dependent cell adhesion proteins. They preferentially interact with themselves in a homophilic manner in connecting cells. CDH23 is required for establishing and/or maintaining the proper organization of the stereocilia bundle of hair cells in the cochlea and the vestibule during late embryonic/early postnatal development. It is part of the functional network formed by USH1C, USH1G, CDH23 and MYO7A that mediates mechanotransduction in cochlear hair cells. Required for normal hearing. {ECO:0000269\|PubMed:11138009, ECO:0000269\|PubMed:16679490}.

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

Top

Fusion Gene Sequence for HELLS-CDH23

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 HELLS-CDH23

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

Top

Related Drugs for HELLS-CDH23

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

Top

Related Diseases for HELLS-CDH23

Diseases associated with fusion partners.
(DisGeNet 4.0)

Partner

Gene

Disease ID

Disease name

# pubmeds

Source