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Fusion gene ID: 6618

FusionGeneSummary for CDKAL1_TBC1D1

Fusion gene summary

Fusion gene information	Fusion gene name: CDKAL1_TBC1D1
	Fusion gene ID: 6618
		Hgene	Tgene
	Gene symbol	CDKAL1	TBC1D1
	Gene ID	54901	23216
	Gene name	CDK5 regulatory subunit associated protein 1 like 1	TBC1 domain family member 1
	Synonyms	-	TBC\|TBC1
	Cytomap	6p22.3	4p14
	Type of gene	protein-coding	protein-coding
	Description	threonylcarbamoyladenosine tRNA methylthiotransferasetRNA-t(6)A37 methylthiotransferase	TBC1 domain family member 1TBC1 (tre-2/USP6, BUB2, cdc16) domain family, member 1
	Modification date	20180523	20180523
	UniProtAcc	Q5VV42	Q86TI0
	Ensembl transtripts involved in fusion gene	ENST00000274695, ENST00000378624, ENST00000378610, ENST00000476517,	ENST00000508802, ENST00000261439, ENST00000402522, ENST00000407365,
Fusion gene scores	* DoF score	23 X 12 X 11=3036	8 X 7 X 4=224
	# samples	22	9
	** MAII score	log2(22/3036*10)=-3.78659636189081 possibly effective Gene in Pan-Cancer Fusion Genes (peGinPCFGs). DoF>8 and MAII<0	log2(9/224*10)=-1.31550182572793 possibly effective Gene in Pan-Cancer Fusion Genes (peGinPCFGs). DoF>8 and MAII<0
Context	PubMed: CDKAL1 [Title/Abstract] AND TBC1D1 [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

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	BLCA	TCGA-GV-A3JZ-01A	CDKAL1	chr6	20548936	+	TBC1D1	chr4	38091553	+

* 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
In-frame	ENST00000274695	ENST00000508802	CDKAL1	chr6	20548936	+	TBC1D1	chr4	38091553	+
In-frame	ENST00000274695	ENST00000261439	CDKAL1	chr6	20548936	+	TBC1D1	chr4	38091553	+
5CDS-intron	ENST00000274695	ENST00000402522	CDKAL1	chr6	20548936	+	TBC1D1	chr4	38091553	+
5CDS-intron	ENST00000274695	ENST00000407365	CDKAL1	chr6	20548936	+	TBC1D1	chr4	38091553	+
intron-3CDS	ENST00000378624	ENST00000508802	CDKAL1	chr6	20548936	+	TBC1D1	chr4	38091553	+
intron-3CDS	ENST00000378624	ENST00000261439	CDKAL1	chr6	20548936	+	TBC1D1	chr4	38091553	+
intron-intron	ENST00000378624	ENST00000402522	CDKAL1	chr6	20548936	+	TBC1D1	chr4	38091553	+
intron-intron	ENST00000378624	ENST00000407365	CDKAL1	chr6	20548936	+	TBC1D1	chr4	38091553	+
In-frame	ENST00000378610	ENST00000508802	CDKAL1	chr6	20548936	+	TBC1D1	chr4	38091553	+
In-frame	ENST00000378610	ENST00000261439	CDKAL1	chr6	20548936	+	TBC1D1	chr4	38091553	+
5CDS-intron	ENST00000378610	ENST00000402522	CDKAL1	chr6	20548936	+	TBC1D1	chr4	38091553	+
5CDS-intron	ENST00000378610	ENST00000407365	CDKAL1	chr6	20548936	+	TBC1D1	chr4	38091553	+
intron-3CDS	ENST00000476517	ENST00000508802	CDKAL1	chr6	20548936	+	TBC1D1	chr4	38091553	+
intron-3CDS	ENST00000476517	ENST00000261439	CDKAL1	chr6	20548936	+	TBC1D1	chr4	38091553	+
intron-intron	ENST00000476517	ENST00000402522	CDKAL1	chr6	20548936	+	TBC1D1	chr4	38091553	+
intron-intron	ENST00000476517	ENST00000407365	CDKAL1	chr6	20548936	+	TBC1D1	chr4	38091553	+

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FusionProtFeatures for CDKAL1_TBC1D1

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

Hgene	Tgene
CDKAL1 Q5VV42	TBC1D1 Q86TI0

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Fusion gene ID: 6618

FusionGeneSummary for CDKAL1_TBC1D1

FusionProtFeatures for CDKAL1_TBC1D1