	FusionGeneSummary
	FusionProtFeature
	FusionGeneSequence
	FusionGenePPI
	RelatedDrugs
	RelatedDiseases

Fusion gene ID: 26374

FusionGeneSummary for PDE1A_PPP1R1C

Fusion gene summary

Fusion gene information	Fusion gene name: PDE1A_PPP1R1C
	Fusion gene ID: 26374
		Hgene	Tgene
	Gene symbol	PDE1A	PPP1R1C
	Gene ID	5136	151242
	Gene name	phosphodiesterase 1A	protein phosphatase 1 regulatory inhibitor subunit 1C
	Synonyms	CAM-PDE-1A\|HCAM-1\|HCAM1\|HSPDE1A	IPP5
	Cytomap	2q32.1	2q31.3-q32.1
	Type of gene	protein-coding	protein-coding
	Description	calcium/calmodulin-dependent 3',5'-cyclic nucleotide phosphodiesterase 1A61 kDa Cam-PDEcalcium/calmodulin-stimulated cyclic nucleotide phosphodiesterasecam-PDE 1Aphosphodiesterase 1A, calmodulin-dependent	protein phosphatase 1 regulatory subunit 1CPP1 inhibitor protein 5inhibitor-5 of protein phosphatase 1protein phosphatase 1 regulatory subunit 1A
	Modification date	20180519	20180523
	UniProtAcc	P54750	Q8WVI7
	Ensembl transtripts involved in fusion gene	ENST00000435564, ENST00000536095, ENST00000409365, ENST00000331935, ENST00000351439, ENST00000410103, ENST00000358139, ENST00000456212, ENST00000346717, ENST00000482538,	ENST00000475249, ENST00000452904, ENST00000409137, ENST00000280295, ENST00000409702,
Fusion gene scores	* DoF score	1 X 1 X 1=1	2 X 1 X 2=4
	# samples	1	2
	** MAII score	log2(1/1*10)=3.32192809488736	log2(2/4*10)=2.32192809488736
Context	PubMed: PDE1A [Title/Abstract] AND PPP1R1C [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	KIRC	TCGA-BP-5006-01A	PDE1A	chr2	183291305	-	PPP1R1C	chr2	182926169	+

* 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-3UTR	ENST00000435564	ENST00000475249	PDE1A	chr2	183291305	-	PPP1R1C	chr2	182926169	+
intron-3UTR	ENST00000435564	ENST00000452904	PDE1A	chr2	183291305	-	PPP1R1C	chr2	182926169	+
intron-3UTR	ENST00000435564	ENST00000409137	PDE1A	chr2	183291305	-	PPP1R1C	chr2	182926169	+
intron-3UTR	ENST00000435564	ENST00000280295	PDE1A	chr2	183291305	-	PPP1R1C	chr2	182926169	+
intron-3UTR	ENST00000435564	ENST00000409702	PDE1A	chr2	183291305	-	PPP1R1C	chr2	182926169	+
intron-3UTR	ENST00000536095	ENST00000475249	PDE1A	chr2	183291305	-	PPP1R1C	chr2	182926169	+
intron-3UTR	ENST00000536095	ENST00000452904	PDE1A	chr2	183291305	-	PPP1R1C	chr2	182926169	+
intron-3UTR	ENST00000536095	ENST00000409137	PDE1A	chr2	183291305	-	PPP1R1C	chr2	182926169	+
intron-3UTR	ENST00000536095	ENST00000280295	PDE1A	chr2	183291305	-	PPP1R1C	chr2	182926169	+
intron-3UTR	ENST00000536095	ENST00000409702	PDE1A	chr2	183291305	-	PPP1R1C	chr2	182926169	+
5CDS-3UTR	ENST00000409365	ENST00000475249	PDE1A	chr2	183291305	-	PPP1R1C	chr2	182926169	+
5CDS-3UTR	ENST00000409365	ENST00000452904	PDE1A	chr2	183291305	-	PPP1R1C	chr2	182926169	+
5CDS-3UTR	ENST00000409365	ENST00000409137	PDE1A	chr2	183291305	-	PPP1R1C	chr2	182926169	+
5CDS-3UTR	ENST00000409365	ENST00000280295	PDE1A	chr2	183291305	-	PPP1R1C	chr2	182926169	+
5CDS-3UTR	ENST00000409365	ENST00000409702	PDE1A	chr2	183291305	-	PPP1R1C	chr2	182926169	+
intron-3UTR	ENST00000331935	ENST00000475249	PDE1A	chr2	183291305	-	PPP1R1C	chr2	182926169	+
intron-3UTR	ENST00000331935	ENST00000452904	PDE1A	chr2	183291305	-	PPP1R1C	chr2	182926169	+
intron-3UTR	ENST00000331935	ENST00000409137	PDE1A	chr2	183291305	-	PPP1R1C	chr2	182926169	+
intron-3UTR	ENST00000331935	ENST00000280295	PDE1A	chr2	183291305	-	PPP1R1C	chr2	182926169	+
intron-3UTR	ENST00000331935	ENST00000409702	PDE1A	chr2	183291305	-	PPP1R1C	chr2	182926169	+
5CDS-3UTR	ENST00000351439	ENST00000475249	PDE1A	chr2	183291305	-	PPP1R1C	chr2	182926169	+
5CDS-3UTR	ENST00000351439	ENST00000452904	PDE1A	chr2	183291305	-	PPP1R1C	chr2	182926169	+
5CDS-3UTR	ENST00000351439	ENST00000409137	PDE1A	chr2	183291305	-	PPP1R1C	chr2	182926169	+
5CDS-3UTR	ENST00000351439	ENST00000280295	PDE1A	chr2	183291305	-	PPP1R1C	chr2	182926169	+
5CDS-3UTR	ENST00000351439	ENST00000409702	PDE1A	chr2	183291305	-	PPP1R1C	chr2	182926169	+
intron-3UTR	ENST00000410103	ENST00000475249	PDE1A	chr2	183291305	-	PPP1R1C	chr2	182926169	+
intron-3UTR	ENST00000410103	ENST00000452904	PDE1A	chr2	183291305	-	PPP1R1C	chr2	182926169	+
intron-3UTR	ENST00000410103	ENST00000409137	PDE1A	chr2	183291305	-	PPP1R1C	chr2	182926169	+
intron-3UTR	ENST00000410103	ENST00000280295	PDE1A	chr2	183291305	-	PPP1R1C	chr2	182926169	+
intron-3UTR	ENST00000410103	ENST00000409702	PDE1A	chr2	183291305	-	PPP1R1C	chr2	182926169	+
intron-3UTR	ENST00000358139	ENST00000475249	PDE1A	chr2	183291305	-	PPP1R1C	chr2	182926169	+
intron-3UTR	ENST00000358139	ENST00000452904	PDE1A	chr2	183291305	-	PPP1R1C	chr2	182926169	+
intron-3UTR	ENST00000358139	ENST00000409137	PDE1A	chr2	183291305	-	PPP1R1C	chr2	182926169	+
intron-3UTR	ENST00000358139	ENST00000280295	PDE1A	chr2	183291305	-	PPP1R1C	chr2	182926169	+
intron-3UTR	ENST00000358139	ENST00000409702	PDE1A	chr2	183291305	-	PPP1R1C	chr2	182926169	+
intron-3UTR	ENST00000456212	ENST00000475249	PDE1A	chr2	183291305	-	PPP1R1C	chr2	182926169	+
intron-3UTR	ENST00000456212	ENST00000452904	PDE1A	chr2	183291305	-	PPP1R1C	chr2	182926169	+
intron-3UTR	ENST00000456212	ENST00000409137	PDE1A	chr2	183291305	-	PPP1R1C	chr2	182926169	+
intron-3UTR	ENST00000456212	ENST00000280295	PDE1A	chr2	183291305	-	PPP1R1C	chr2	182926169	+
intron-3UTR	ENST00000456212	ENST00000409702	PDE1A	chr2	183291305	-	PPP1R1C	chr2	182926169	+
intron-3UTR	ENST00000346717	ENST00000475249	PDE1A	chr2	183291305	-	PPP1R1C	chr2	182926169	+
intron-3UTR	ENST00000346717	ENST00000452904	PDE1A	chr2	183291305	-	PPP1R1C	chr2	182926169	+
intron-3UTR	ENST00000346717	ENST00000409137	PDE1A	chr2	183291305	-	PPP1R1C	chr2	182926169	+
intron-3UTR	ENST00000346717	ENST00000280295	PDE1A	chr2	183291305	-	PPP1R1C	chr2	182926169	+
intron-3UTR	ENST00000346717	ENST00000409702	PDE1A	chr2	183291305	-	PPP1R1C	chr2	182926169	+
intron-3UTR	ENST00000482538	ENST00000475249	PDE1A	chr2	183291305	-	PPP1R1C	chr2	182926169	+
intron-3UTR	ENST00000482538	ENST00000452904	PDE1A	chr2	183291305	-	PPP1R1C	chr2	182926169	+
intron-3UTR	ENST00000482538	ENST00000409137	PDE1A	chr2	183291305	-	PPP1R1C	chr2	182926169	+
intron-3UTR	ENST00000482538	ENST00000280295	PDE1A	chr2	183291305	-	PPP1R1C	chr2	182926169	+
intron-3UTR	ENST00000482538	ENST00000409702	PDE1A	chr2	183291305	-	PPP1R1C	chr2	182926169	+

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FusionProtFeatures for PDE1A_PPP1R1C

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

Hgene	Tgene
PDE1A P54750	PPP1R1C Q8WVI7
	Inhibitor of protein-phosphatase 1. Promotes cell growthand cell cycle progress at the G1/S transition. May increase cellsusceptibility to TNF-induced apoptosis.{ECO:0000269\|PubMed:18310074, ECO:0000269\|PubMed:19874272}.

Retention analysis result of each fusion partner protein across 39 protein features of UniProt such as six molecule processing features, 13 region features, four site features, six amino acid modification features, two natural variation features, five experimental info features, and 3 secondary structure features. Here, because of limited space for viewing, we only show the protein feature retention information belong to the 13 regional features. All retention annotation result can be downloaded at
download page
.

* Minus value of BPloci means that the break pointn is located before the CDS.

- In-frame and retained protein feature among the 13 regional features.

Partner

Gene

Hbp

Tbp

ENST

Strand

BPexon

TotalExon

Protein feature loci

*BPloci

TotalLen

Protein feature

Protein feature note

- In-frame and not-retained protein feature among the 13 regional features.

Partner

Gene

Hbp

Tbp

ENST

Strand

BPexon

TotalExon

Protein feature loci

*BPloci

TotalLen

Protein feature

Protein feature note

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FusionGeneSequence for PDE1A_PPP1R1C

For in-frame fusion transcripts, we provide the fusion transcript sequences and fusion amino acid sequences.
(nt: nucleotides, aa: amino acids)

* Fusion amino acid sequences.

* Fusion transcript sequences (only coding sequence (CDS) region).

* Fusion transcript sequences (Full-length transcript).

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FusionGenePPI for PDE1A_PPP1R1C

Go to ChiPPI (Chimeric Protein-Protein interactions) to see the chimeric PPI interaction in
ChiPPI page
.

Protein-protein interactors with each fusion partner protein in wild-type (BIOGRID-3.4.160)

Hgene	Hgene's interactors	Tgene	Tgene's interactors
PDE1A	APOA1, CALM1, APP, PDE1C	PPP1R1C

- Retained PPIs in in-frame fusion.

Partner

Gene

Hbp

Tbp

ENST

Strand

BPexon

TotalExon

Protein feature loci

*BPloci

TotalLen

Still interaction with

- Lost PPIs in in-frame fusion.

Partner

Gene

Hbp

Tbp

ENST

Strand

BPexon

TotalExon

Protein feature loci

*BPloci

TotalLen

Interaction lost with

- Retained PPIs, but lost function due to frame-shift fusion.

Partner

Gene

Hbp

Tbp

ENST

Strand

BPexon

TotalExon

Protein feature loci

*BPloci

TotalLen

Interaction lost with

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RelatedDrugs for PDE1A_PPP1R1C

Drugs targeting genes involved in this fusion gene.
(DrugBank Version 5.1.0 2018-04-02)

Partner	Gene	UniProtAcc	DrugBank ID	Drug name	Drug activity	Drug type	Drug status
Hgene	PDE1A	P54750	DB00201	Caffeine	Calcium/calmodulin-dependent 3',5'-cyclic nucleotide phosphodiesterase 1A	small molecule	approved
Hgene	PDE1A	P54750	DB09283	Trapidil	Calcium/calmodulin-dependent 3',5'-cyclic nucleotide phosphodiesterase 1A	small molecule	approved
Hgene	PDE1A	P54750	DB00622	Nicardipine	Calcium/calmodulin-dependent 3',5'-cyclic nucleotide phosphodiesterase 1A	small molecule	approved\|investigational
Hgene	PDE1A	P54750	DB01023	Felodipine	Calcium/calmodulin-dependent 3',5'-cyclic nucleotide phosphodiesterase 1A	small molecule	approved\|investigational
Hgene	PDE1A	P54750	DB01244	Bepridil	Calcium/calmodulin-dependent 3',5'-cyclic nucleotide phosphodiesterase 1A	small molecule	approved\|withdrawn

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RelatedDiseases for PDE1A_PPP1R1C

Diseases associated with fusion partners.
(DisGeNet 4.0)

Partner

Gene

Disease ID

Disease name

# pubmeds

Source

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Fusion gene ID: 26374

FusionGeneSummary for PDE1A_PPP1R1C

FusionProtFeatures for PDE1A_PPP1R1C

FusionGeneSequence for PDE1A_PPP1R1C

FusionGenePPI for PDE1A_PPP1R1C

RelatedDrugs for PDE1A_PPP1R1C

RelatedDiseases for PDE1A_PPP1R1C