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Fusion gene ID: 251

FusionGeneSummary for ABL1_BCR

Fusion gene summary

Fusion gene information	Fusion gene name: ABL1_BCR
	Fusion gene ID: 251
		Hgene	Tgene
	Gene symbol	ABL1	BCR
	Gene ID	25	613
	Gene name	ABL proto-oncogene 1, non-receptor tyrosine kinase	BCR, RhoGEF and GTPase activating protein
	Synonyms	ABL\|CHDSKM\|JTK7\|bcr/abl\|c-ABL\|c-ABL1\|p150\|v-abl	ALL\|BCR1\|CML\|D22S11\|D22S662\|PHL
	Cytomap	9q34.12	22q11.23
	Type of gene	protein-coding	protein-coding
	Description	tyrosine-protein kinase ABL1Abelson tyrosine-protein kinase 1bcr/c-abl oncogene proteinc-abl oncogene 1, receptor tyrosine kinaseproto-oncogene c-Ablproto-oncogene tyrosine-protein kinase ABL1v-abl Abelson murine leukemia viral oncogene homolog 1	breakpoint cluster region proteinBCR/FGFR1 chimera proteinFGFR1/BCR chimera proteinbreakpoint cluster regionrenal carcinoma antigen NY-REN-26
	Modification date	20180527	20180527
	UniProtAcc	P00519	P11274
	Ensembl transtripts involved in fusion gene	ENST00000318560,	ENST00000305877, ENST00000359540, ENST00000398512, ENST00000436990,
Fusion gene scores	* DoF score	14 X 13 X 10=1820	6 X 12 X 4=288
	# samples	23	15
	** MAII score	log2(23/1820*10)=-2.98423268414168 possibly effective Gene in Pan-Cancer Fusion Genes (peGinPCFGs). DoF>8 and MAII<0	log2(15/288*10)=-0.941106310946431 possibly effective Gene in Pan-Cancer Fusion Genes (peGinPCFGs). DoF>8 and MAII<0
Context	PubMed: ABL1 [Title/Abstract] AND BCR [Title/Abstract] AND fusion [Title/Abstract] Identical abnormality of the short arm of chromosome 18 in two Philadelphia-positive chronic myelocytic leukemia patients with erythroblastic transformation, resulting in duplication of BCR-ABL1 fusion (pmid: 12419580)
Functional or gene categories assigned by FusionGDB annotation	Oncogene involved fusion gene, in-frame and retained their domain. Tumor suppressor gene involved fusion gene, in-frame but not retained their domain. Tumor suppressor gene involved fusion gene, retained protein feature but frameshift. DDR (DNA damage repair) gene involved fusion gene, in-frame but not retained their domain. Kinase involved fusion gene, inframe and retained kinase domain. Transcription factor involved fusion gene, inframe and retained DNA-binding domain.

* 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	ABL1	GO:0006974	cellular response to DNA damage stimulus	15657060
Hgene	ABL1	GO:0006975	DNA damage induced protein phosphorylation	18280240
Hgene	ABL1	GO:0018108	peptidyl-tyrosine phosphorylation	7590236\|9144171\|10713049\|11121037
Hgene	ABL1	GO:0038083	peptidyl-tyrosine autophosphorylation	10518561
Hgene	ABL1	GO:0042770	signal transduction in response to DNA damage	9037071\|15657060
Hgene	ABL1	GO:0043065	positive regulation of apoptotic process	9037071
Hgene	ABL1	GO:0046777	protein autophosphorylation	10713049
Hgene	ABL1	GO:0050731	positive regulation of peptidyl-tyrosine phosphorylation	15657060
Hgene	ABL1	GO:0051353	positive regulation of oxidoreductase activity	12893824
Hgene	ABL1	GO:0051444	negative regulation of ubiquitin-protein transferase activity	20823226
Hgene	ABL1	GO:0070301	cellular response to hydrogen peroxide	10713049
Hgene	ABL1	GO:0071901	negative regulation of protein serine/threonine kinase activity	11121037
Hgene	ABL1	GO:1990051	activation of protein kinase C activity	10713049
Hgene	ABL1	GO:2001020	regulation of response to DNA damage stimulus	9461559

Fusion gene information from three resources
(ChiTars (NAR, 2018), tumorfusions (NAR, 2018), Gao et al. (Cell, 2018))
* 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.

Data type	Source	Cancer type	Sample	Hgene	Hchr	Hbp	Hstrand	Tgene	Tchr	Tbp	Tstrand
TCGA	RV	LAML	TCGA-AB-2817-03A	ABL1	chr9	133589842	+	BCR	chr22	23595986	+
TCGA	RV	LAML	TCGA-AB-2941-03A	ABL1	chr9	133589842	+	BCR	chr22	23634728	+
TCGA	RV	LAML	TCGA-AB-2901-03A	ABL1	chr9	133589842	+	BCR	chr22	23634728	+
ChiTaRS3.1			JQ425243	ABL1	chr9	133609600	+	BCR	chr22	23633410	+
ChiTaRS3.1			JQ425252	ABL1	chr9	133611321	+	BCR	chr22	23632429	+
ChiTaRS3.1			JQ425250	ABL1	chr9	133651594	+	BCR	chr22	23633431	+
ChiTaRS3.1			JQ425248	ABL1	chr9	133715193	+	BCR	chr22	23632419	+
ChiTaRS3.1			JQ425245	ABL1	chr9	133614221	+	BCR	chr22	23632569	+
ChiTaRS3.1			JQ425240	ABL1	chr9	133686164	+	BCR	chr22	23632728	+

* LD: Li Ding group's fusion gene list
RV: Roel Verhaak group's fusion gene list
ChiTaRs fusion database

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	ENST00000318560	ENST00000305877	ABL1	chr9	133589842	+	BCR	chr22	23595986	+
intron-3CDS	ENST00000318560	ENST00000359540	ABL1	chr9	133589842	+	BCR	chr22	23595986	+
intron-intron	ENST00000318560	ENST00000398512	ABL1	chr9	133589842	+	BCR	chr22	23595986	+
intron-intron	ENST00000318560	ENST00000436990	ABL1	chr9	133589842	+	BCR	chr22	23595986	+
intron-3CDS	ENST00000318560	ENST00000305877	ABL1	chr9	133589842	+	BCR	chr22	23634728	+
intron-3CDS	ENST00000318560	ENST00000359540	ABL1	chr9	133589842	+	BCR	chr22	23634728	+
intron-intron	ENST00000318560	ENST00000398512	ABL1	chr9	133589842	+	BCR	chr22	23634728	+
intron-intron	ENST00000318560	ENST00000436990	ABL1	chr9	133589842	+	BCR	chr22	23634728	+
intron-intron	ENST00000318560	ENST00000305877	ABL1	chr9	133609600	+	BCR	chr22	23633410	+
intron-intron	ENST00000318560	ENST00000359540	ABL1	chr9	133609600	+	BCR	chr22	23633410	+
intron-intron	ENST00000318560	ENST00000398512	ABL1	chr9	133609600	+	BCR	chr22	23633410	+
intron-intron	ENST00000318560	ENST00000436990	ABL1	chr9	133609600	+	BCR	chr22	23633410	+
intron-intron	ENST00000318560	ENST00000305877	ABL1	chr9	133611321	+	BCR	chr22	23632429	+
intron-intron	ENST00000318560	ENST00000359540	ABL1	chr9	133611321	+	BCR	chr22	23632429	+
intron-intron	ENST00000318560	ENST00000398512	ABL1	chr9	133611321	+	BCR	chr22	23632429	+
intron-intron	ENST00000318560	ENST00000436990	ABL1	chr9	133611321	+	BCR	chr22	23632429	+
intron-intron	ENST00000318560	ENST00000305877	ABL1	chr9	133651594	+	BCR	chr22	23633431	+
intron-intron	ENST00000318560	ENST00000359540	ABL1	chr9	133651594	+	BCR	chr22	23633431	+
intron-intron	ENST00000318560	ENST00000398512	ABL1	chr9	133651594	+	BCR	chr22	23633431	+
intron-intron	ENST00000318560	ENST00000436990	ABL1	chr9	133651594	+	BCR	chr22	23633431	+
intron-intron	ENST00000318560	ENST00000305877	ABL1	chr9	133715193	+	BCR	chr22	23632419	+
intron-intron	ENST00000318560	ENST00000359540	ABL1	chr9	133715193	+	BCR	chr22	23632419	+
intron-intron	ENST00000318560	ENST00000398512	ABL1	chr9	133715193	+	BCR	chr22	23632419	+
intron-intron	ENST00000318560	ENST00000436990	ABL1	chr9	133715193	+	BCR	chr22	23632419	+
intron-3CDS	ENST00000318560	ENST00000305877	ABL1	chr9	133614221	+	BCR	chr22	23632569	+
intron-3CDS	ENST00000318560	ENST00000359540	ABL1	chr9	133614221	+	BCR	chr22	23632569	+
intron-intron	ENST00000318560	ENST00000398512	ABL1	chr9	133614221	+	BCR	chr22	23632569	+
intron-intron	ENST00000318560	ENST00000436990	ABL1	chr9	133614221	+	BCR	chr22	23632569	+
intron-intron	ENST00000318560	ENST00000305877	ABL1	chr9	133686164	+	BCR	chr22	23632728	+
intron-intron	ENST00000318560	ENST00000359540	ABL1	chr9	133686164	+	BCR	chr22	23632728	+
intron-intron	ENST00000318560	ENST00000398512	ABL1	chr9	133686164	+	BCR	chr22	23632728	+
intron-intron	ENST00000318560	ENST00000436990	ABL1	chr9	133686164	+	BCR	chr22	23632728	+

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FusionProtFeatures for ABL1_BCR

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

Hgene	Tgene
ABL1 P00519	BCR P11274

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Fusion gene ID: 251

FusionGeneSummary for ABL1_BCR

FusionProtFeatures for ABL1_BCR