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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:ASXL1-HCK (FusionGDB2 ID:7383)

Fusion Gene Summary for ASXL1-HCK

Fusion gene summary

Fusion gene information	Fusion gene name: ASXL1-HCK
	Fusion gene ID: 7383
		Hgene	Tgene
	Gene symbol	ASXL1	HCK
	Gene ID	171023	3055
	Gene name	ASXL transcriptional regulator 1	HCK proto-oncogene, Src family tyrosine kinase
	Synonyms	BOPS\|MDS	JTK9\|p59Hck\|p61Hck
	Cytomap	20q11.21	20q11.21
	Type of gene	protein-coding	protein-coding
	Description	polycomb group protein ASXL1additional sex combs like 1, transcriptional regulatoradditional sex combs like transcriptional regulator 1putative Polycomb group protein ASXL1	tyrosine-protein kinase HCKhematopoietic cell kinasehemopoietic cell kinasep59-HCK/p60-HCK
	Modification date	20200313	20200329
	UniProtAcc	Q8IXJ9	P08631
	Ensembl transtripts involved in fusion gene	ENST00000375687, ENST00000542461, ENST00000375689, ENST00000306058, ENST00000470145,	ENST00000534862, ENST00000538448, ENST00000375862, ENST00000520553, ENST00000518730, ENST00000375852,
Fusion gene scores	* DoF score	16 X 10 X 8=1280	10 X 10 X 7=700
	# samples	21	14
	** MAII score	log2(21/1280*10)=-2.60768257722124 possibly effective Gene in Pan-Cancer Fusion Genes (peGinPCFGs). DoF>8 and MAII<0	log2(14/700*10)=-2.32192809488736 possibly effective Gene in Pan-Cancer Fusion Genes (peGinPCFGs). DoF>8 and MAII<0
Context	PubMed: ASXL1 [Title/Abstract] AND HCK [Title/Abstract] AND fusion [Title/Abstract]
Most frequent breakpoint	ASXL1(30946635)-HCK(30659465), # samples:2
Anticipated loss of major functional domain due to fusion event.	ASXL1-HCK seems lost the major protein functional domain in Hgene partner, which is a CGC due to the frame-shifted ORF. ASXL1-HCK seems lost the major protein functional domain in Hgene partner, which is a tumor suppressor due to the frame-shifted ORF. ASXL1-HCK seems lost the major protein functional domain in Hgene partner, which is a epigenetic factor due to the frame-shifted ORF. ASXL1-HCK seems lost the major protein functional domain in Tgene partner, which is a kinase due to the frame-shifted ORF. ASXL1-HCK seems lost the major protein functional domain in Tgene partner, which is a IUPHAR drug target 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)

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	ASXL1	GO:0035522	monoubiquitinated histone H2A deubiquitination	20436459
Tgene	HCK	GO:0071801	regulation of podosome assembly	15998323
Tgene	HCK	GO:2000251	positive regulation of actin cytoskeleton reorganization	15998323

Fusion gene breakpoints across ASXL1 (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 HCK (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	OV	TCGA-31-1953-01A	ASXL1	chr20	30946635	+	HCK	chr20	30659465	+
ChimerDB4	OV	TCGA-31-1953	ASXL1	chr20	30946635	+	HCK	chr20	30659464	+
ChimerDB4	OV	TCGA-31-1953	ASXL1	chr20	30946635	+	HCK	chr20	30642018	+
ChimerDB4	OV	TCGA-31-1953-01A	ASXL1	chr20	30946635	+	HCK	chr20	30659465	+
ChimerDB4	OV	TCGA-31-1953-01A	ASXL1	chr20	30946635	+	HCK	chr20	30642019	+
ChiTaRS5.0	N/A	EC543412	ASXL1	chr20	31010021	-	HCK	chr20	30665975	-

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Fusion Gene ORF analysis for ASXL1-HCK

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
Frame-shift	ENST00000375687	ENST00000534862	ASXL1	chr20	30946635	+	HCK	chr20	30659465	+
5CDS-5UTR	ENST00000375687	ENST00000538448	ASXL1	chr20	30946635	+	HCK	chr20	30659465	+
5CDS-5UTR	ENST00000375687	ENST00000375862	ASXL1	chr20	30946635	+	HCK	chr20	30659465	+
5CDS-5UTR	ENST00000375687	ENST00000520553	ASXL1	chr20	30946635	+	HCK	chr20	30659465	+
5CDS-5UTR	ENST00000375687	ENST00000518730	ASXL1	chr20	30946635	+	HCK	chr20	30659465	+
5CDS-5UTR	ENST00000375687	ENST00000375852	ASXL1	chr20	30946635	+	HCK	chr20	30659465	+
Frame-shift	ENST00000542461	ENST00000534862	ASXL1	chr20	30946635	+	HCK	chr20	30659465	+
5CDS-5UTR	ENST00000542461	ENST00000538448	ASXL1	chr20	30946635	+	HCK	chr20	30659465	+
5CDS-5UTR	ENST00000542461	ENST00000375862	ASXL1	chr20	30946635	+	HCK	chr20	30659465	+
5CDS-5UTR	ENST00000542461	ENST00000520553	ASXL1	chr20	30946635	+	HCK	chr20	30659465	+
5CDS-5UTR	ENST00000542461	ENST00000518730	ASXL1	chr20	30946635	+	HCK	chr20	30659465	+
5CDS-5UTR	ENST00000542461	ENST00000375852	ASXL1	chr20	30946635	+	HCK	chr20	30659465	+
intron-3CDS	ENST00000375689	ENST00000534862	ASXL1	chr20	30946635	+	HCK	chr20	30659465	+
intron-5UTR	ENST00000375689	ENST00000538448	ASXL1	chr20	30946635	+	HCK	chr20	30659465	+
intron-5UTR	ENST00000375689	ENST00000375862	ASXL1	chr20	30946635	+	HCK	chr20	30659465	+
intron-5UTR	ENST00000375689	ENST00000520553	ASXL1	chr20	30946635	+	HCK	chr20	30659465	+
intron-5UTR	ENST00000375689	ENST00000518730	ASXL1	chr20	30946635	+	HCK	chr20	30659465	+
intron-5UTR	ENST00000375689	ENST00000375852	ASXL1	chr20	30946635	+	HCK	chr20	30659465	+
intron-3CDS	ENST00000306058	ENST00000534862	ASXL1	chr20	30946635	+	HCK	chr20	30659465	+
intron-5UTR	ENST00000306058	ENST00000538448	ASXL1	chr20	30946635	+	HCK	chr20	30659465	+
intron-5UTR	ENST00000306058	ENST00000375862	ASXL1	chr20	30946635	+	HCK	chr20	30659465	+
intron-5UTR	ENST00000306058	ENST00000520553	ASXL1	chr20	30946635	+	HCK	chr20	30659465	+
intron-5UTR	ENST00000306058	ENST00000518730	ASXL1	chr20	30946635	+	HCK	chr20	30659465	+
intron-5UTR	ENST00000306058	ENST00000375852	ASXL1	chr20	30946635	+	HCK	chr20	30659465	+
intron-3CDS	ENST00000470145	ENST00000534862	ASXL1	chr20	30946635	+	HCK	chr20	30659465	+
intron-5UTR	ENST00000470145	ENST00000538448	ASXL1	chr20	30946635	+	HCK	chr20	30659465	+
intron-5UTR	ENST00000470145	ENST00000375862	ASXL1	chr20	30946635	+	HCK	chr20	30659465	+
intron-5UTR	ENST00000470145	ENST00000520553	ASXL1	chr20	30946635	+	HCK	chr20	30659465	+
intron-5UTR	ENST00000470145	ENST00000518730	ASXL1	chr20	30946635	+	HCK	chr20	30659465	+
intron-5UTR	ENST00000470145	ENST00000375852	ASXL1	chr20	30946635	+	HCK	chr20	30659465	+
Frame-shift	ENST00000375687	ENST00000534862	ASXL1	chr20	30946635	+	HCK	chr20	30659464	+
5CDS-5UTR	ENST00000375687	ENST00000538448	ASXL1	chr20	30946635	+	HCK	chr20	30659464	+
5CDS-5UTR	ENST00000375687	ENST00000375862	ASXL1	chr20	30946635	+	HCK	chr20	30659464	+
5CDS-5UTR	ENST00000375687	ENST00000520553	ASXL1	chr20	30946635	+	HCK	chr20	30659464	+
5CDS-5UTR	ENST00000375687	ENST00000518730	ASXL1	chr20	30946635	+	HCK	chr20	30659464	+
5CDS-5UTR	ENST00000375687	ENST00000375852	ASXL1	chr20	30946635	+	HCK	chr20	30659464	+
Frame-shift	ENST00000542461	ENST00000534862	ASXL1	chr20	30946635	+	HCK	chr20	30659464	+
5CDS-5UTR	ENST00000542461	ENST00000538448	ASXL1	chr20	30946635	+	HCK	chr20	30659464	+
5CDS-5UTR	ENST00000542461	ENST00000375862	ASXL1	chr20	30946635	+	HCK	chr20	30659464	+
5CDS-5UTR	ENST00000542461	ENST00000520553	ASXL1	chr20	30946635	+	HCK	chr20	30659464	+
5CDS-5UTR	ENST00000542461	ENST00000518730	ASXL1	chr20	30946635	+	HCK	chr20	30659464	+
5CDS-5UTR	ENST00000542461	ENST00000375852	ASXL1	chr20	30946635	+	HCK	chr20	30659464	+
intron-3CDS	ENST00000375689	ENST00000534862	ASXL1	chr20	30946635	+	HCK	chr20	30659464	+
intron-5UTR	ENST00000375689	ENST00000538448	ASXL1	chr20	30946635	+	HCK	chr20	30659464	+
intron-5UTR	ENST00000375689	ENST00000375862	ASXL1	chr20	30946635	+	HCK	chr20	30659464	+
intron-5UTR	ENST00000375689	ENST00000520553	ASXL1	chr20	30946635	+	HCK	chr20	30659464	+
intron-5UTR	ENST00000375689	ENST00000518730	ASXL1	chr20	30946635	+	HCK	chr20	30659464	+
intron-5UTR	ENST00000375689	ENST00000375852	ASXL1	chr20	30946635	+	HCK	chr20	30659464	+
intron-3CDS	ENST00000306058	ENST00000534862	ASXL1	chr20	30946635	+	HCK	chr20	30659464	+
intron-5UTR	ENST00000306058	ENST00000538448	ASXL1	chr20	30946635	+	HCK	chr20	30659464	+
intron-5UTR	ENST00000306058	ENST00000375862	ASXL1	chr20	30946635	+	HCK	chr20	30659464	+
intron-5UTR	ENST00000306058	ENST00000520553	ASXL1	chr20	30946635	+	HCK	chr20	30659464	+
intron-5UTR	ENST00000306058	ENST00000518730	ASXL1	chr20	30946635	+	HCK	chr20	30659464	+
intron-5UTR	ENST00000306058	ENST00000375852	ASXL1	chr20	30946635	+	HCK	chr20	30659464	+
intron-3CDS	ENST00000470145	ENST00000534862	ASXL1	chr20	30946635	+	HCK	chr20	30659464	+
intron-5UTR	ENST00000470145	ENST00000538448	ASXL1	chr20	30946635	+	HCK	chr20	30659464	+
intron-5UTR	ENST00000470145	ENST00000375862	ASXL1	chr20	30946635	+	HCK	chr20	30659464	+
intron-5UTR	ENST00000470145	ENST00000520553	ASXL1	chr20	30946635	+	HCK	chr20	30659464	+
intron-5UTR	ENST00000470145	ENST00000518730	ASXL1	chr20	30946635	+	HCK	chr20	30659464	+
intron-5UTR	ENST00000470145	ENST00000375852	ASXL1	chr20	30946635	+	HCK	chr20	30659464	+
5CDS-5UTR	ENST00000375687	ENST00000534862	ASXL1	chr20	30946635	+	HCK	chr20	30642018	+
5CDS-intron	ENST00000375687	ENST00000538448	ASXL1	chr20	30946635	+	HCK	chr20	30642018	+
5CDS-intron	ENST00000375687	ENST00000375862	ASXL1	chr20	30946635	+	HCK	chr20	30642018	+
5CDS-intron	ENST00000375687	ENST00000520553	ASXL1	chr20	30946635	+	HCK	chr20	30642018	+
5CDS-intron	ENST00000375687	ENST00000518730	ASXL1	chr20	30946635	+	HCK	chr20	30642018	+
5CDS-intron	ENST00000375687	ENST00000375852	ASXL1	chr20	30946635	+	HCK	chr20	30642018	+
5CDS-5UTR	ENST00000542461	ENST00000534862	ASXL1	chr20	30946635	+	HCK	chr20	30642018	+
5CDS-intron	ENST00000542461	ENST00000538448	ASXL1	chr20	30946635	+	HCK	chr20	30642018	+
5CDS-intron	ENST00000542461	ENST00000375862	ASXL1	chr20	30946635	+	HCK	chr20	30642018	+
5CDS-intron	ENST00000542461	ENST00000520553	ASXL1	chr20	30946635	+	HCK	chr20	30642018	+
5CDS-intron	ENST00000542461	ENST00000518730	ASXL1	chr20	30946635	+	HCK	chr20	30642018	+
5CDS-intron	ENST00000542461	ENST00000375852	ASXL1	chr20	30946635	+	HCK	chr20	30642018	+
intron-5UTR	ENST00000375689	ENST00000534862	ASXL1	chr20	30946635	+	HCK	chr20	30642018	+
intron-intron	ENST00000375689	ENST00000538448	ASXL1	chr20	30946635	+	HCK	chr20	30642018	+
intron-intron	ENST00000375689	ENST00000375862	ASXL1	chr20	30946635	+	HCK	chr20	30642018	+
intron-intron	ENST00000375689	ENST00000520553	ASXL1	chr20	30946635	+	HCK	chr20	30642018	+
intron-intron	ENST00000375689	ENST00000518730	ASXL1	chr20	30946635	+	HCK	chr20	30642018	+
intron-intron	ENST00000375689	ENST00000375852	ASXL1	chr20	30946635	+	HCK	chr20	30642018	+
intron-5UTR	ENST00000306058	ENST00000534862	ASXL1	chr20	30946635	+	HCK	chr20	30642018	+
intron-intron	ENST00000306058	ENST00000538448	ASXL1	chr20	30946635	+	HCK	chr20	30642018	+
intron-intron	ENST00000306058	ENST00000375862	ASXL1	chr20	30946635	+	HCK	chr20	30642018	+
intron-intron	ENST00000306058	ENST00000520553	ASXL1	chr20	30946635	+	HCK	chr20	30642018	+
intron-intron	ENST00000306058	ENST00000518730	ASXL1	chr20	30946635	+	HCK	chr20	30642018	+
intron-intron	ENST00000306058	ENST00000375852	ASXL1	chr20	30946635	+	HCK	chr20	30642018	+
intron-5UTR	ENST00000470145	ENST00000534862	ASXL1	chr20	30946635	+	HCK	chr20	30642018	+
intron-intron	ENST00000470145	ENST00000538448	ASXL1	chr20	30946635	+	HCK	chr20	30642018	+
intron-intron	ENST00000470145	ENST00000375862	ASXL1	chr20	30946635	+	HCK	chr20	30642018	+
intron-intron	ENST00000470145	ENST00000520553	ASXL1	chr20	30946635	+	HCK	chr20	30642018	+
intron-intron	ENST00000470145	ENST00000518730	ASXL1	chr20	30946635	+	HCK	chr20	30642018	+
intron-intron	ENST00000470145	ENST00000375852	ASXL1	chr20	30946635	+	HCK	chr20	30642018	+
5CDS-5UTR	ENST00000375687	ENST00000534862	ASXL1	chr20	30946635	+	HCK	chr20	30642019	+
5CDS-intron	ENST00000375687	ENST00000538448	ASXL1	chr20	30946635	+	HCK	chr20	30642019	+
5CDS-intron	ENST00000375687	ENST00000375862	ASXL1	chr20	30946635	+	HCK	chr20	30642019	+
5CDS-intron	ENST00000375687	ENST00000520553	ASXL1	chr20	30946635	+	HCK	chr20	30642019	+
5CDS-intron	ENST00000375687	ENST00000518730	ASXL1	chr20	30946635	+	HCK	chr20	30642019	+
5CDS-intron	ENST00000375687	ENST00000375852	ASXL1	chr20	30946635	+	HCK	chr20	30642019	+
5CDS-5UTR	ENST00000542461	ENST00000534862	ASXL1	chr20	30946635	+	HCK	chr20	30642019	+
5CDS-intron	ENST00000542461	ENST00000538448	ASXL1	chr20	30946635	+	HCK	chr20	30642019	+
5CDS-intron	ENST00000542461	ENST00000375862	ASXL1	chr20	30946635	+	HCK	chr20	30642019	+
5CDS-intron	ENST00000542461	ENST00000520553	ASXL1	chr20	30946635	+	HCK	chr20	30642019	+
5CDS-intron	ENST00000542461	ENST00000518730	ASXL1	chr20	30946635	+	HCK	chr20	30642019	+
5CDS-intron	ENST00000542461	ENST00000375852	ASXL1	chr20	30946635	+	HCK	chr20	30642019	+
intron-5UTR	ENST00000375689	ENST00000534862	ASXL1	chr20	30946635	+	HCK	chr20	30642019	+
intron-intron	ENST00000375689	ENST00000538448	ASXL1	chr20	30946635	+	HCK	chr20	30642019	+
intron-intron	ENST00000375689	ENST00000375862	ASXL1	chr20	30946635	+	HCK	chr20	30642019	+
intron-intron	ENST00000375689	ENST00000520553	ASXL1	chr20	30946635	+	HCK	chr20	30642019	+
intron-intron	ENST00000375689	ENST00000518730	ASXL1	chr20	30946635	+	HCK	chr20	30642019	+
intron-intron	ENST00000375689	ENST00000375852	ASXL1	chr20	30946635	+	HCK	chr20	30642019	+
intron-5UTR	ENST00000306058	ENST00000534862	ASXL1	chr20	30946635	+	HCK	chr20	30642019	+
intron-intron	ENST00000306058	ENST00000538448	ASXL1	chr20	30946635	+	HCK	chr20	30642019	+
intron-intron	ENST00000306058	ENST00000375862	ASXL1	chr20	30946635	+	HCK	chr20	30642019	+
intron-intron	ENST00000306058	ENST00000520553	ASXL1	chr20	30946635	+	HCK	chr20	30642019	+
intron-intron	ENST00000306058	ENST00000518730	ASXL1	chr20	30946635	+	HCK	chr20	30642019	+
intron-intron	ENST00000306058	ENST00000375852	ASXL1	chr20	30946635	+	HCK	chr20	30642019	+
intron-5UTR	ENST00000470145	ENST00000534862	ASXL1	chr20	30946635	+	HCK	chr20	30642019	+
intron-intron	ENST00000470145	ENST00000538448	ASXL1	chr20	30946635	+	HCK	chr20	30642019	+
intron-intron	ENST00000470145	ENST00000375862	ASXL1	chr20	30946635	+	HCK	chr20	30642019	+
intron-intron	ENST00000470145	ENST00000520553	ASXL1	chr20	30946635	+	HCK	chr20	30642019	+
intron-intron	ENST00000470145	ENST00000518730	ASXL1	chr20	30946635	+	HCK	chr20	30642019	+
intron-intron	ENST00000470145	ENST00000375852	ASXL1	chr20	30946635	+	HCK	chr20	30642019	+
intron-intron	ENST00000375687	ENST00000534862	ASXL1	chr20	31010021	-	HCK	chr20	30665975	-
intron-intron	ENST00000375687	ENST00000538448	ASXL1	chr20	31010021	-	HCK	chr20	30665975	-
intron-intron	ENST00000375687	ENST00000375862	ASXL1	chr20	31010021	-	HCK	chr20	30665975	-
intron-intron	ENST00000375687	ENST00000520553	ASXL1	chr20	31010021	-	HCK	chr20	30665975	-
intron-intron	ENST00000375687	ENST00000518730	ASXL1	chr20	31010021	-	HCK	chr20	30665975	-
intron-intron	ENST00000375687	ENST00000375852	ASXL1	chr20	31010021	-	HCK	chr20	30665975	-
intron-intron	ENST00000542461	ENST00000534862	ASXL1	chr20	31010021	-	HCK	chr20	30665975	-
intron-intron	ENST00000542461	ENST00000538448	ASXL1	chr20	31010021	-	HCK	chr20	30665975	-
intron-intron	ENST00000542461	ENST00000375862	ASXL1	chr20	31010021	-	HCK	chr20	30665975	-
intron-intron	ENST00000542461	ENST00000520553	ASXL1	chr20	31010021	-	HCK	chr20	30665975	-
intron-intron	ENST00000542461	ENST00000518730	ASXL1	chr20	31010021	-	HCK	chr20	30665975	-
intron-intron	ENST00000542461	ENST00000375852	ASXL1	chr20	31010021	-	HCK	chr20	30665975	-
intron-intron	ENST00000375689	ENST00000534862	ASXL1	chr20	31010021	-	HCK	chr20	30665975	-
intron-intron	ENST00000375689	ENST00000538448	ASXL1	chr20	31010021	-	HCK	chr20	30665975	-
intron-intron	ENST00000375689	ENST00000375862	ASXL1	chr20	31010021	-	HCK	chr20	30665975	-
intron-intron	ENST00000375689	ENST00000520553	ASXL1	chr20	31010021	-	HCK	chr20	30665975	-
intron-intron	ENST00000375689	ENST00000518730	ASXL1	chr20	31010021	-	HCK	chr20	30665975	-
intron-intron	ENST00000375689	ENST00000375852	ASXL1	chr20	31010021	-	HCK	chr20	30665975	-
intron-intron	ENST00000306058	ENST00000534862	ASXL1	chr20	31010021	-	HCK	chr20	30665975	-
intron-intron	ENST00000306058	ENST00000538448	ASXL1	chr20	31010021	-	HCK	chr20	30665975	-
intron-intron	ENST00000306058	ENST00000375862	ASXL1	chr20	31010021	-	HCK	chr20	30665975	-
intron-intron	ENST00000306058	ENST00000520553	ASXL1	chr20	31010021	-	HCK	chr20	30665975	-
intron-intron	ENST00000306058	ENST00000518730	ASXL1	chr20	31010021	-	HCK	chr20	30665975	-
intron-intron	ENST00000306058	ENST00000375852	ASXL1	chr20	31010021	-	HCK	chr20	30665975	-
intron-intron	ENST00000470145	ENST00000534862	ASXL1	chr20	31010021	-	HCK	chr20	30665975	-
intron-intron	ENST00000470145	ENST00000538448	ASXL1	chr20	31010021	-	HCK	chr20	30665975	-
intron-intron	ENST00000470145	ENST00000375862	ASXL1	chr20	31010021	-	HCK	chr20	30665975	-
intron-intron	ENST00000470145	ENST00000520553	ASXL1	chr20	31010021	-	HCK	chr20	30665975	-
intron-intron	ENST00000470145	ENST00000518730	ASXL1	chr20	31010021	-	HCK	chr20	30665975	-
intron-intron	ENST00000470145	ENST00000375852	ASXL1	chr20	31010021	-	HCK	chr20	30665975	-

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 ASXL1-HCK

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)
ASXL1	chr20	30946635	+	HCK	chr20	30642018	+	3.87E-06	0.99999607
ASXL1	chr20	30946635	+	HCK	chr20	30642018	+	3.87E-06	0.99999607
ASXL1	chr20	30946635	+	HCK	chr20	30659464	+	1.83E-06	0.9999982
ASXL1	chr20	30946635	+	HCK	chr20	30659464	+	1.83E-06	0.9999982
ASXL1	chr20	30946635	+	HCK	chr20	30642018	+	3.87E-06	0.99999607
ASXL1	chr20	30946635	+	HCK	chr20	30642018	+	3.87E-06	0.99999607
ASXL1	chr20	30946635	+	HCK	chr20	30659464	+	1.83E-06	0.9999982
ASXL1	chr20	30946635	+	HCK	chr20	30659464	+	1.83E-06	0.9999982

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 ASXL1-HCK

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.

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

Hgene	Tgene
ASXL1 Q8IXJ9	HCK P08631
FUNCTION: Probable Polycomb group (PcG) protein involved in transcriptional regulation mediated by ligand-bound nuclear hormone receptors, such as retinoic acid receptors (RARs) and peroxisome proliferator-activated receptor gamma (PPARG) (PubMed:16606617). Acts as coactivator of RARA and RXRA through association with NCOA1 (PubMed:16606617). Acts as corepressor for PPARG and suppresses its adipocyte differentiation-inducing activity (By similarity). Non-catalytic component of the PR-DUB complex, a complex that specifically mediates deubiquitination of histone H2A monoubiquitinated at 'Lys-119' (H2AK119ub1) (PubMed:20436459). Acts as a sensor of N(6)-methyladenosine methylation on DNA (m6A): recognizes and binds m6A DNA, leading to its ubiquitination and degradation by TRIP12, thereby inactivating the PR-DUB complex and regulating Polycomb silencing (PubMed:30982744). {ECO:0000250\|UniProtKB:P59598, ECO:0000269\|PubMed:16606617, ECO:0000269\|PubMed:20436459, ECO:0000269\|PubMed:30982744}.	FUNCTION: Non-receptor tyrosine-protein kinase found in hematopoietic cells that transmits signals from cell surface receptors and plays an important role in the regulation of innate immune responses, including neutrophil, monocyte, macrophage and mast cell functions, phagocytosis, cell survival and proliferation, cell adhesion and migration. Acts downstream of receptors that bind the Fc region of immunoglobulins, such as FCGR1A and FCGR2A, but also CSF3R, PLAUR, the receptors for IFNG, IL2, IL6 and IL8, and integrins, such as ITGB1 and ITGB2. During the phagocytic process, mediates mobilization of secretory lysosomes, degranulation, and activation of NADPH oxidase to bring about the respiratory burst. Plays a role in the release of inflammatory molecules. Promotes reorganization of the actin cytoskeleton and actin polymerization, formation of podosomes and cell protrusions. Inhibits TP73-mediated transcription activation and TP73-mediated apoptosis. Phosphorylates CBL in response to activation of immunoglobulin gamma Fc region receptors. Phosphorylates ADAM15, BCR, ELMO1, FCGR2A, GAB1, GAB2, RAPGEF1, STAT5B, TP73, VAV1 and WAS. {ECO:0000269\|PubMed:10092522, ECO:0000269\|PubMed:10779760, ECO:0000269\|PubMed:10973280, ECO:0000269\|PubMed:11741929, ECO:0000269\|PubMed:11896602, ECO:0000269\|PubMed:12411494, ECO:0000269\|PubMed:15010462, ECO:0000269\|PubMed:15952790, ECO:0000269\|PubMed:15998323, ECO:0000269\|PubMed:17310994, ECO:0000269\|PubMed:17535448, ECO:0000269\|PubMed:19114024, ECO:0000269\|PubMed:19903482, ECO:0000269\|PubMed:20452982, ECO:0000269\|PubMed:21338576, ECO:0000269\|PubMed:7535819, ECO:0000269\|PubMed:8132624, ECO:0000269\|PubMed:9406996, ECO:0000269\|PubMed:9407116}.

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 ASXL1-HCK

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 ASXL1-HCK

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 ASXL1-HCK

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
Tgene	HCK	P08631	DB06616	Bosutinib	Inhibitor	Small molecule	Approved
Tgene	HCK	P08631	DB12010	Fostamatinib	Inhibitor	Small molecule	Approved\|Investigational

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Related Diseases for ASXL1-HCK

Diseases associated with fusion partners.
(DisGeNet 4.0)

Partner	Gene	Disease ID	Disease name	# pubmeds	Source
Hgene	ASXL1	C0796232	Bohring syndrome	3	CTD_human;GENOMICS_ENGLAND;ORPHANET
Hgene	ASXL1	C0349639	Juvenile Myelomonocytic Leukemia	2	CTD_human;GENOMICS_ENGLAND
Hgene	ASXL1	C3463824	MYELODYSPLASTIC SYNDROME	2	CGI;CTD_human;GENOMICS_ENGLAND
Hgene	ASXL1	C0023487	Acute Promyelocytic Leukemia	1	CTD_human
Hgene	ASXL1	C0027643	Neoplasm Recurrence, Local	1	CTD_human
Hgene	ASXL1	C0027708	Nephroblastoma	1	CTD_human
Hgene	ASXL1	C1301365	Systemic mastocytosis with associated clonal, hematologic non-mast-cell lineage disease	1	ORPHANET
Hgene	ASXL1	C2713368	Hematopoetic Myelodysplasia	1	CTD_human
Hgene	ASXL1	C2930471	Bilateral Wilms Tumor	1	CTD_human
Tgene	HCK	C0023452	Childhood Acute Lymphoblastic Leukemia	1	CTD_human
Tgene	HCK	C0023453	L2 Acute Lymphoblastic Leukemia	1	CTD_human
Tgene	HCK	C0023893	Liver Cirrhosis, Experimental	1	CTD_human
Tgene	HCK	C1961102	Precursor Cell Lymphoblastic Leukemia Lymphoma	1	CTD_human