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Fusion gene ID: 6644

FusionGeneSummary for CDKN2A_SRGAP2

Fusion gene summary

Fusion gene information	Fusion gene name: CDKN2A_SRGAP2
	Fusion gene ID: 6644
		Hgene	Tgene
	Gene symbol	CDKN2A	SRGAP2
	Gene ID	1029	23380
	Gene name	cyclin dependent kinase inhibitor 2A	SLIT-ROBO Rho GTPase activating protein 2
	Synonyms	ARF\|CDK4I\|CDKN2\|CMM2\|INK4\|INK4A\|MLM\|MTS-1\|MTS1\|P14\|P14ARF\|P16\|P16-INK4A\|P16INK4\|P16INK4A\|P19\|P19ARF\|TP16	ARHGAP34\|FNBP2\|SRGAP2A\|SRGAP3
	Cytomap	9p21.3	1q32.1
	Type of gene	protein-coding	protein-coding
	Description	cyclin-dependent kinase inhibitor 2ACDK4 inhibitor p16-INK4alternative reading framecell cycle negative regulator betacyclin-dependent kinase 4 inhibitor Acyclin-dependent kinase inhibitor 2A (melanoma, p16, inhibits CDK4)multiple tumor suppressor 1	SLIT-ROBO Rho GTPase-activating protein 2SLIT-ROBO GAP2formin-binding protein 2rho GTPase-activating protein 34
	Modification date	20180527	20180523
	UniProtAcc	Q8N726
	Ensembl transtripts involved in fusion gene	ENST00000361570, ENST00000304494, ENST00000579755, ENST00000579122, ENST00000578845, ENST00000530628, ENST00000498124, ENST00000498628, ENST00000494262, ENST00000446177, ENST00000479692, ENST00000497750, ENST00000470819,	ENST00000414007, ENST00000419187, ENST00000471256,
Fusion gene scores	* DoF score	11 X 4 X 9=396	9 X 9 X 6=486
	# samples	11	9
	** MAII score	log2(11/396*10)=-1.84799690655495 possibly effective Gene in Pan-Cancer Fusion Genes (peGinPCFGs). DoF>8 and MAII<0	log2(9/486*10)=-2.43295940727611 possibly effective Gene in Pan-Cancer Fusion Genes (peGinPCFGs). DoF>8 and MAII<0
Context	PubMed: CDKN2A [Title/Abstract] AND SRGAP2 [Title/Abstract] AND fusion [Title/Abstract]
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.

* 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	CDKN2A	GO:0000082	G1/S transition of mitotic cell cycle	10208428
Hgene	CDKN2A	GO:0007050	cell cycle arrest	15149599
Hgene	CDKN2A	GO:0008285	negative regulation of cell proliferation	15149599
Hgene	CDKN2A	GO:0030308	negative regulation of cell growth	10208428
Hgene	CDKN2A	GO:0032088	negative regulation of NF-kappaB transcription factor activity	10353611
Hgene	CDKN2A	GO:0042326	negative regulation of phosphorylation	8259215\|10208428
Hgene	CDKN2A	GO:0045736	negative regulation of cyclin-dependent protein serine/threonine kinase activity	7739547\|8259215
Tgene	SRGAP2	GO:0043547	positive regulation of GTPase activity	21148482
Tgene	SRGAP2	GO:0046847	filopodium assembly	22559944
Tgene	SRGAP2	GO:0051014	actin filament severing	21148482
Tgene	SRGAP2	GO:0060996	dendritic spine development	22559944
Tgene	SRGAP2	GO:2001223	negative regulation of neuron migration	22559944

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	LUSC	TCGA-60-2715-01A	CDKN2A	chr9	21994138	-	SRGAP2	chr1	206634382	+

* 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	ENST00000361570	ENST00000414007	CDKN2A	chr9	21994138	-	SRGAP2	chr1	206634382	+
5CDS-intron	ENST00000361570	ENST00000419187	CDKN2A	chr9	21994138	-	SRGAP2	chr1	206634382	+
5CDS-intron	ENST00000361570	ENST00000471256	CDKN2A	chr9	21994138	-	SRGAP2	chr1	206634382	+
intron-3CDS	ENST00000304494	ENST00000414007	CDKN2A	chr9	21994138	-	SRGAP2	chr1	206634382	+
intron-intron	ENST00000304494	ENST00000419187	CDKN2A	chr9	21994138	-	SRGAP2	chr1	206634382	+
intron-intron	ENST00000304494	ENST00000471256	CDKN2A	chr9	21994138	-	SRGAP2	chr1	206634382	+
In-frame	ENST00000579755	ENST00000414007	CDKN2A	chr9	21994138	-	SRGAP2	chr1	206634382	+
5CDS-intron	ENST00000579755	ENST00000419187	CDKN2A	chr9	21994138	-	SRGAP2	chr1	206634382	+
5CDS-intron	ENST00000579755	ENST00000471256	CDKN2A	chr9	21994138	-	SRGAP2	chr1	206634382	+
intron-3CDS	ENST00000579122	ENST00000414007	CDKN2A	chr9	21994138	-	SRGAP2	chr1	206634382	+
intron-intron	ENST00000579122	ENST00000419187	CDKN2A	chr9	21994138	-	SRGAP2	chr1	206634382	+
intron-intron	ENST00000579122	ENST00000471256	CDKN2A	chr9	21994138	-	SRGAP2	chr1	206634382	+
intron-3CDS	ENST00000578845	ENST00000414007	CDKN2A	chr9	21994138	-	SRGAP2	chr1	206634382	+
intron-intron	ENST00000578845	ENST00000419187	CDKN2A	chr9	21994138	-	SRGAP2	chr1	206634382	+
intron-intron	ENST00000578845	ENST00000471256	CDKN2A	chr9	21994138	-	SRGAP2	chr1	206634382	+
In-frame	ENST00000530628	ENST00000414007	CDKN2A	chr9	21994138	-	SRGAP2	chr1	206634382	+
5CDS-intron	ENST00000530628	ENST00000419187	CDKN2A	chr9	21994138	-	SRGAP2	chr1	206634382	+
5CDS-intron	ENST00000530628	ENST00000471256	CDKN2A	chr9	21994138	-	SRGAP2	chr1	206634382	+
intron-3CDS	ENST00000498124	ENST00000414007	CDKN2A	chr9	21994138	-	SRGAP2	chr1	206634382	+
intron-intron	ENST00000498124	ENST00000419187	CDKN2A	chr9	21994138	-	SRGAP2	chr1	206634382	+
intron-intron	ENST00000498124	ENST00000471256	CDKN2A	chr9	21994138	-	SRGAP2	chr1	206634382	+
intron-3CDS	ENST00000498628	ENST00000414007	CDKN2A	chr9	21994138	-	SRGAP2	chr1	206634382	+
intron-intron	ENST00000498628	ENST00000419187	CDKN2A	chr9	21994138	-	SRGAP2	chr1	206634382	+
intron-intron	ENST00000498628	ENST00000471256	CDKN2A	chr9	21994138	-	SRGAP2	chr1	206634382	+
intron-3CDS	ENST00000494262	ENST00000414007	CDKN2A	chr9	21994138	-	SRGAP2	chr1	206634382	+
intron-intron	ENST00000494262	ENST00000419187	CDKN2A	chr9	21994138	-	SRGAP2	chr1	206634382	+
intron-intron	ENST00000494262	ENST00000471256	CDKN2A	chr9	21994138	-	SRGAP2	chr1	206634382	+
intron-3CDS	ENST00000446177	ENST00000414007	CDKN2A	chr9	21994138	-	SRGAP2	chr1	206634382	+
intron-intron	ENST00000446177	ENST00000419187	CDKN2A	chr9	21994138	-	SRGAP2	chr1	206634382	+
intron-intron	ENST00000446177	ENST00000471256	CDKN2A	chr9	21994138	-	SRGAP2	chr1	206634382	+
intron-3CDS	ENST00000479692	ENST00000414007	CDKN2A	chr9	21994138	-	SRGAP2	chr1	206634382	+
intron-intron	ENST00000479692	ENST00000419187	CDKN2A	chr9	21994138	-	SRGAP2	chr1	206634382	+
intron-intron	ENST00000479692	ENST00000471256	CDKN2A	chr9	21994138	-	SRGAP2	chr1	206634382	+
intron-3CDS	ENST00000497750	ENST00000414007	CDKN2A	chr9	21994138	-	SRGAP2	chr1	206634382	+
intron-intron	ENST00000497750	ENST00000419187	CDKN2A	chr9	21994138	-	SRGAP2	chr1	206634382	+
intron-intron	ENST00000497750	ENST00000471256	CDKN2A	chr9	21994138	-	SRGAP2	chr1	206634382	+
intron-3CDS	ENST00000470819	ENST00000414007	CDKN2A	chr9	21994138	-	SRGAP2	chr1	206634382	+
intron-intron	ENST00000470819	ENST00000419187	CDKN2A	chr9	21994138	-	SRGAP2	chr1	206634382	+
intron-intron	ENST00000470819	ENST00000471256	CDKN2A	chr9	21994138	-	SRGAP2	chr1	206634382	+

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FusionProtFeatures for CDKN2A_SRGAP2

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

Hgene	Tgene
CDKN2A Q8N726	SRGAP2

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Fusion gene ID: 6644

FusionGeneSummary for CDKN2A_SRGAP2

FusionProtFeatures for CDKN2A_SRGAP2