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Fusion gene ID: 8401

FusionGeneSummary for CREB3L2_CDKN1A

Fusion gene summary

Fusion gene information	Fusion gene name: CREB3L2_CDKN1A
	Fusion gene ID: 8401
		Hgene	Tgene
	Gene symbol	CREB3L2	CDKN1A
	Gene ID	64764	1026
	Gene name	cAMP responsive element binding protein 3 like 2	cyclin dependent kinase inhibitor 1A
	Synonyms	BBF2H7	CAP20\|CDKN1\|CIP1\|MDA-6\|P21\|SDI1\|WAF1\|p21CIP1
	Cytomap	7q33	6p21.2
	Type of gene	protein-coding	protein-coding
	Description	cyclic AMP-responsive element-binding protein 3-like protein 2B-ZIB transcription factorBBF2 human homolog on chromosome 7FUS/BBF2H7 proteinTCAG_1951439basic transcription factor 2cAMP-responsive element-binding protein 3-like protein 2	cyclin-dependent kinase inhibitor 1CDK-interacting protein 1CDK-interaction protein 1DNA synthesis inhibitorcyclin-dependent kinase inhibitor 1A (p21, Cip1)melanoma differentiation associated protein 6wild-type p53-activated fragment 1
	Modification date	20180523	20180527
	UniProtAcc	Q70SY1	P38936
	Ensembl transtripts involved in fusion gene	ENST00000330387, ENST00000456390, ENST00000452463, ENST00000458726, ENST00000468127,	ENST00000448526, ENST00000244741, ENST00000405375, ENST00000373711, ENST00000478800,
Fusion gene scores	* DoF score	11 X 10 X 3=330	2 X 3 X 1=6
	# samples	13	3
	** MAII score	log2(13/330*10)=-1.34395440121736 possibly effective Gene in Pan-Cancer Fusion Genes (peGinPCFGs). DoF>8 and MAII<0	log2(3/6*10)=2.32192809488736
Context	PubMed: CREB3L2 [Title/Abstract] AND CDKN1A [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	CREB3L2	GO:0045893	positive regulation of transcription, DNA-templated	17178827
Tgene	CDKN1A	GO:0000082	G1/S transition of mitotic cell cycle	10208428
Tgene	CDKN1A	GO:0006977	DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest	15149599
Tgene	CDKN1A	GO:0007050	cell cycle arrest	15149599
Tgene	CDKN1A	GO:0008285	negative regulation of cell proliferation	10208428\|15149599
Tgene	CDKN1A	GO:0030308	negative regulation of cell growth	10208428
Tgene	CDKN1A	GO:0042326	negative regulation of phosphorylation	10208428
Tgene	CDKN1A	GO:0045860	positive regulation of protein kinase activity	22869755

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			BC037414	CREB3L2	chr7	137565216	-	CDKN1A	chr6	36652129	+

* 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	ENST00000330387	ENST00000448526	CREB3L2	chr7	137565216	-	CDKN1A	chr6	36652129	+
intron-3CDS	ENST00000330387	ENST00000244741	CREB3L2	chr7	137565216	-	CDKN1A	chr6	36652129	+
intron-3CDS	ENST00000330387	ENST00000405375	CREB3L2	chr7	137565216	-	CDKN1A	chr6	36652129	+
intron-3CDS	ENST00000330387	ENST00000373711	CREB3L2	chr7	137565216	-	CDKN1A	chr6	36652129	+
intron-3UTR	ENST00000330387	ENST00000478800	CREB3L2	chr7	137565216	-	CDKN1A	chr6	36652129	+
intron-3CDS	ENST00000456390	ENST00000448526	CREB3L2	chr7	137565216	-	CDKN1A	chr6	36652129	+
intron-3CDS	ENST00000456390	ENST00000244741	CREB3L2	chr7	137565216	-	CDKN1A	chr6	36652129	+
intron-3CDS	ENST00000456390	ENST00000405375	CREB3L2	chr7	137565216	-	CDKN1A	chr6	36652129	+
intron-3CDS	ENST00000456390	ENST00000373711	CREB3L2	chr7	137565216	-	CDKN1A	chr6	36652129	+
intron-3UTR	ENST00000456390	ENST00000478800	CREB3L2	chr7	137565216	-	CDKN1A	chr6	36652129	+
intron-3CDS	ENST00000452463	ENST00000448526	CREB3L2	chr7	137565216	-	CDKN1A	chr6	36652129	+
intron-3CDS	ENST00000452463	ENST00000244741	CREB3L2	chr7	137565216	-	CDKN1A	chr6	36652129	+
intron-3CDS	ENST00000452463	ENST00000405375	CREB3L2	chr7	137565216	-	CDKN1A	chr6	36652129	+
intron-3CDS	ENST00000452463	ENST00000373711	CREB3L2	chr7	137565216	-	CDKN1A	chr6	36652129	+
intron-3UTR	ENST00000452463	ENST00000478800	CREB3L2	chr7	137565216	-	CDKN1A	chr6	36652129	+
intron-3CDS	ENST00000458726	ENST00000448526	CREB3L2	chr7	137565216	-	CDKN1A	chr6	36652129	+
intron-3CDS	ENST00000458726	ENST00000244741	CREB3L2	chr7	137565216	-	CDKN1A	chr6	36652129	+
intron-3CDS	ENST00000458726	ENST00000405375	CREB3L2	chr7	137565216	-	CDKN1A	chr6	36652129	+
intron-3CDS	ENST00000458726	ENST00000373711	CREB3L2	chr7	137565216	-	CDKN1A	chr6	36652129	+
intron-3UTR	ENST00000458726	ENST00000478800	CREB3L2	chr7	137565216	-	CDKN1A	chr6	36652129	+
intron-3CDS	ENST00000468127	ENST00000448526	CREB3L2	chr7	137565216	-	CDKN1A	chr6	36652129	+
intron-3CDS	ENST00000468127	ENST00000244741	CREB3L2	chr7	137565216	-	CDKN1A	chr6	36652129	+
intron-3CDS	ENST00000468127	ENST00000405375	CREB3L2	chr7	137565216	-	CDKN1A	chr6	36652129	+
intron-3CDS	ENST00000468127	ENST00000373711	CREB3L2	chr7	137565216	-	CDKN1A	chr6	36652129	+
intron-3UTR	ENST00000468127	ENST00000478800	CREB3L2	chr7	137565216	-	CDKN1A	chr6	36652129	+

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FusionProtFeatures for CREB3L2_CDKN1A

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

Hgene	Tgene
CREB3L2 Q70SY1	CDKN1A P38936

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Fusion gene ID: 8401

FusionGeneSummary for CREB3L2_CDKN1A

FusionProtFeatures for CREB3L2_CDKN1A