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Fusion gene ID: 4562

FusionGeneSummary for BTK_CYB561D1

Fusion gene summary

Fusion gene information	Fusion gene name: BTK_CYB561D1
	Fusion gene ID: 4562
		Hgene	Tgene
	Gene symbol	BTK	CYB561D1
	Gene ID	695	284613
	Gene name	Bruton tyrosine kinase	cytochrome b561 family member D1
	Synonyms	AGMX1\|AT\|ATK\|BPK\|IMD1\|PSCTK1\|XLA	-
	Cytomap	Xq22.1	1p13.3
	Type of gene	protein-coding	protein-coding
	Description	tyrosine-protein kinase BTKB-cell progenitor kinaseBruton agammaglobulinemia tyrosine kinaseBruton's tyrosine kinaseagammaglobulinaemia tyrosine kinasedominant-negative kinase-deficient Brutons tyrosine kinasetruncated Bruton agammaglobulinemia tyro	cytochrome b561 domain-containing protein 1cytochrome b-561 domain containing 1
	Modification date	20180523	20180330
	UniProtAcc	Q06187	Q8N8Q1
	Ensembl transtripts involved in fusion gene	ENST00000372880, ENST00000308731, ENST00000464567,	ENST00000393709, ENST00000496961, ENST00000533024, ENST00000310611, ENST00000527072, ENST00000420578, ENST00000528785, ENST00000369868, ENST00000430195,
Fusion gene scores	* DoF score	1 X 1 X 1=1	3 X 3 X 2=18
	# samples	1	3
	** MAII score	log2(1/1*10)=3.32192809488736	log2(3/18*10)=0.736965594166206 effective Gene in Pan-Cancer Fusion Genes (eGinPCFGs). DoF>8 and MAII>0
Context	PubMed: BTK [Title/Abstract] AND CYB561D1 [Title/Abstract] AND fusion [Title/Abstract]
Functional or gene categories assigned by FusionGDB annotation

* 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	BTK	GO:0018108	peptidyl-tyrosine phosphorylation	11606584

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
ChiTaRS3.1			BE047734	BTK	chrX	100635253	-	CYB561D1	chr1	110042114	+

* 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-intron	ENST00000372880	ENST00000393709	BTK	chrX	100635253	-	CYB561D1	chr1	110042114	+
intron-intron	ENST00000372880	ENST00000496961	BTK	chrX	100635253	-	CYB561D1	chr1	110042114	+
intron-intron	ENST00000372880	ENST00000533024	BTK	chrX	100635253	-	CYB561D1	chr1	110042114	+
intron-3UTR	ENST00000372880	ENST00000310611	BTK	chrX	100635253	-	CYB561D1	chr1	110042114	+
intron-intron	ENST00000372880	ENST00000527072	BTK	chrX	100635253	-	CYB561D1	chr1	110042114	+
intron-intron	ENST00000372880	ENST00000420578	BTK	chrX	100635253	-	CYB561D1	chr1	110042114	+
intron-intron	ENST00000372880	ENST00000528785	BTK	chrX	100635253	-	CYB561D1	chr1	110042114	+
intron-intron	ENST00000372880	ENST00000369868	BTK	chrX	100635253	-	CYB561D1	chr1	110042114	+
intron-3UTR	ENST00000372880	ENST00000430195	BTK	chrX	100635253	-	CYB561D1	chr1	110042114	+
intron-intron	ENST00000308731	ENST00000393709	BTK	chrX	100635253	-	CYB561D1	chr1	110042114	+
intron-intron	ENST00000308731	ENST00000496961	BTK	chrX	100635253	-	CYB561D1	chr1	110042114	+
intron-intron	ENST00000308731	ENST00000533024	BTK	chrX	100635253	-	CYB561D1	chr1	110042114	+
intron-3UTR	ENST00000308731	ENST00000310611	BTK	chrX	100635253	-	CYB561D1	chr1	110042114	+
intron-intron	ENST00000308731	ENST00000527072	BTK	chrX	100635253	-	CYB561D1	chr1	110042114	+
intron-intron	ENST00000308731	ENST00000420578	BTK	chrX	100635253	-	CYB561D1	chr1	110042114	+
intron-intron	ENST00000308731	ENST00000528785	BTK	chrX	100635253	-	CYB561D1	chr1	110042114	+
intron-intron	ENST00000308731	ENST00000369868	BTK	chrX	100635253	-	CYB561D1	chr1	110042114	+
intron-3UTR	ENST00000308731	ENST00000430195	BTK	chrX	100635253	-	CYB561D1	chr1	110042114	+
intron-intron	ENST00000464567	ENST00000393709	BTK	chrX	100635253	-	CYB561D1	chr1	110042114	+
intron-intron	ENST00000464567	ENST00000496961	BTK	chrX	100635253	-	CYB561D1	chr1	110042114	+
intron-intron	ENST00000464567	ENST00000533024	BTK	chrX	100635253	-	CYB561D1	chr1	110042114	+
intron-3UTR	ENST00000464567	ENST00000310611	BTK	chrX	100635253	-	CYB561D1	chr1	110042114	+
intron-intron	ENST00000464567	ENST00000527072	BTK	chrX	100635253	-	CYB561D1	chr1	110042114	+
intron-intron	ENST00000464567	ENST00000420578	BTK	chrX	100635253	-	CYB561D1	chr1	110042114	+
intron-intron	ENST00000464567	ENST00000528785	BTK	chrX	100635253	-	CYB561D1	chr1	110042114	+
intron-intron	ENST00000464567	ENST00000369868	BTK	chrX	100635253	-	CYB561D1	chr1	110042114	+
intron-3UTR	ENST00000464567	ENST00000430195	BTK	chrX	100635253	-	CYB561D1	chr1	110042114	+

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FusionProtFeatures for BTK_CYB561D1

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

Hgene	Tgene
BTK Q06187	CYB561D1 Q8N8Q1

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Fusion gene ID: 4562

FusionGeneSummary for BTK_CYB561D1

FusionProtFeatures for BTK_CYB561D1