	FusionGeneSummary
	FusionProtFeature
	FusionGeneSequence
	FusionGenePPI
	RelatedDrugs
	RelatedDiseases

Fusion gene ID: 6674

FusionGeneSummary for CDV3_IMPDH1

Fusion gene summary

Fusion gene information	Fusion gene name: CDV3_IMPDH1
	Fusion gene ID: 6674
		Hgene	Tgene
	Gene symbol	CDV3	IMPDH1
	Gene ID	55573	3614
	Gene name	CDV3 homolog	inosine monophosphate dehydrogenase 1
	Synonyms	H41	IMPD\|IMPD1\|IMPDH-I\|LCA11\|RP10\|sWSS2608
	Cytomap	3q22.1	7q32.1
	Type of gene	protein-coding	protein-coding
	Description	protein CDV3 homologcarnitine deficiency-associated gene expressed in ventricle 3	inosine-5'-monophosphate dehydrogenase 1IMP (inosine 5'-monophosphate) dehydrogenase 1IMP (inosine monophosphate) dehydrogenase 1IMPD 1IMPDH 1
	Modification date	20180519	20180523
	UniProtAcc	Q9UKY7	P20839
	Ensembl transtripts involved in fusion gene	ENST00000264993, ENST00000431519, ENST00000508481, ENST00000420115, ENST00000511392, ENST00000515421,	ENST00000419067, ENST00000338791, ENST00000496200, ENST00000354269, ENST00000378717, ENST00000343214, ENST00000348127, ENST00000470772, ENST00000480861,
Fusion gene scores	* DoF score	4 X 3 X 3=36	1 X 1 X 1=1
	# samples	4	1
	** MAII score	log2(4/36*10)=0.15200309344505 effective Gene in Pan-Cancer Fusion Genes (eGinPCFGs). DoF>8 and MAII>0	log2(1/1*10)=3.32192809488736
Context	PubMed: CDV3 [Title/Abstract] AND IMPDH1 [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
ChiTaRS3.1			BG954732	CDV3	chr3	133306634	-	IMPDH1	chr7	128043784	+

* 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	ENST00000264993	ENST00000419067	CDV3	chr3	133306634	-	IMPDH1	chr7	128043784	+
intron-3CDS	ENST00000264993	ENST00000338791	CDV3	chr3	133306634	-	IMPDH1	chr7	128043784	+
intron-3CDS	ENST00000264993	ENST00000496200	CDV3	chr3	133306634	-	IMPDH1	chr7	128043784	+
intron-3CDS	ENST00000264993	ENST00000354269	CDV3	chr3	133306634	-	IMPDH1	chr7	128043784	+
intron-3CDS	ENST00000264993	ENST00000378717	CDV3	chr3	133306634	-	IMPDH1	chr7	128043784	+
intron-3CDS	ENST00000264993	ENST00000343214	CDV3	chr3	133306634	-	IMPDH1	chr7	128043784	+
intron-3CDS	ENST00000264993	ENST00000348127	CDV3	chr3	133306634	-	IMPDH1	chr7	128043784	+
intron-3CDS	ENST00000264993	ENST00000470772	CDV3	chr3	133306634	-	IMPDH1	chr7	128043784	+
intron-3CDS	ENST00000264993	ENST00000480861	CDV3	chr3	133306634	-	IMPDH1	chr7	128043784	+
intron-3CDS	ENST00000431519	ENST00000419067	CDV3	chr3	133306634	-	IMPDH1	chr7	128043784	+
intron-3CDS	ENST00000431519	ENST00000338791	CDV3	chr3	133306634	-	IMPDH1	chr7	128043784	+
intron-3CDS	ENST00000431519	ENST00000496200	CDV3	chr3	133306634	-	IMPDH1	chr7	128043784	+
intron-3CDS	ENST00000431519	ENST00000354269	CDV3	chr3	133306634	-	IMPDH1	chr7	128043784	+
intron-3CDS	ENST00000431519	ENST00000378717	CDV3	chr3	133306634	-	IMPDH1	chr7	128043784	+
intron-3CDS	ENST00000431519	ENST00000343214	CDV3	chr3	133306634	-	IMPDH1	chr7	128043784	+
intron-3CDS	ENST00000431519	ENST00000348127	CDV3	chr3	133306634	-	IMPDH1	chr7	128043784	+
intron-3CDS	ENST00000431519	ENST00000470772	CDV3	chr3	133306634	-	IMPDH1	chr7	128043784	+
intron-3CDS	ENST00000431519	ENST00000480861	CDV3	chr3	133306634	-	IMPDH1	chr7	128043784	+
intron-3CDS	ENST00000508481	ENST00000419067	CDV3	chr3	133306634	-	IMPDH1	chr7	128043784	+
intron-3CDS	ENST00000508481	ENST00000338791	CDV3	chr3	133306634	-	IMPDH1	chr7	128043784	+
intron-3CDS	ENST00000508481	ENST00000496200	CDV3	chr3	133306634	-	IMPDH1	chr7	128043784	+
intron-3CDS	ENST00000508481	ENST00000354269	CDV3	chr3	133306634	-	IMPDH1	chr7	128043784	+
intron-3CDS	ENST00000508481	ENST00000378717	CDV3	chr3	133306634	-	IMPDH1	chr7	128043784	+
intron-3CDS	ENST00000508481	ENST00000343214	CDV3	chr3	133306634	-	IMPDH1	chr7	128043784	+
intron-3CDS	ENST00000508481	ENST00000348127	CDV3	chr3	133306634	-	IMPDH1	chr7	128043784	+
intron-3CDS	ENST00000508481	ENST00000470772	CDV3	chr3	133306634	-	IMPDH1	chr7	128043784	+
intron-3CDS	ENST00000508481	ENST00000480861	CDV3	chr3	133306634	-	IMPDH1	chr7	128043784	+
3UTR-3CDS	ENST00000420115	ENST00000419067	CDV3	chr3	133306634	-	IMPDH1	chr7	128043784	+
3UTR-3CDS	ENST00000420115	ENST00000338791	CDV3	chr3	133306634	-	IMPDH1	chr7	128043784	+
3UTR-3CDS	ENST00000420115	ENST00000496200	CDV3	chr3	133306634	-	IMPDH1	chr7	128043784	+
3UTR-3CDS	ENST00000420115	ENST00000354269	CDV3	chr3	133306634	-	IMPDH1	chr7	128043784	+
3UTR-3CDS	ENST00000420115	ENST00000378717	CDV3	chr3	133306634	-	IMPDH1	chr7	128043784	+
3UTR-3CDS	ENST00000420115	ENST00000343214	CDV3	chr3	133306634	-	IMPDH1	chr7	128043784	+
3UTR-3CDS	ENST00000420115	ENST00000348127	CDV3	chr3	133306634	-	IMPDH1	chr7	128043784	+
3UTR-3CDS	ENST00000420115	ENST00000470772	CDV3	chr3	133306634	-	IMPDH1	chr7	128043784	+
3UTR-3CDS	ENST00000420115	ENST00000480861	CDV3	chr3	133306634	-	IMPDH1	chr7	128043784	+
intron-3CDS	ENST00000511392	ENST00000419067	CDV3	chr3	133306634	-	IMPDH1	chr7	128043784	+
intron-3CDS	ENST00000511392	ENST00000338791	CDV3	chr3	133306634	-	IMPDH1	chr7	128043784	+
intron-3CDS	ENST00000511392	ENST00000496200	CDV3	chr3	133306634	-	IMPDH1	chr7	128043784	+
intron-3CDS	ENST00000511392	ENST00000354269	CDV3	chr3	133306634	-	IMPDH1	chr7	128043784	+
intron-3CDS	ENST00000511392	ENST00000378717	CDV3	chr3	133306634	-	IMPDH1	chr7	128043784	+
intron-3CDS	ENST00000511392	ENST00000343214	CDV3	chr3	133306634	-	IMPDH1	chr7	128043784	+
intron-3CDS	ENST00000511392	ENST00000348127	CDV3	chr3	133306634	-	IMPDH1	chr7	128043784	+
intron-3CDS	ENST00000511392	ENST00000470772	CDV3	chr3	133306634	-	IMPDH1	chr7	128043784	+
intron-3CDS	ENST00000511392	ENST00000480861	CDV3	chr3	133306634	-	IMPDH1	chr7	128043784	+
intron-3CDS	ENST00000515421	ENST00000419067	CDV3	chr3	133306634	-	IMPDH1	chr7	128043784	+
intron-3CDS	ENST00000515421	ENST00000338791	CDV3	chr3	133306634	-	IMPDH1	chr7	128043784	+
intron-3CDS	ENST00000515421	ENST00000496200	CDV3	chr3	133306634	-	IMPDH1	chr7	128043784	+
intron-3CDS	ENST00000515421	ENST00000354269	CDV3	chr3	133306634	-	IMPDH1	chr7	128043784	+
intron-3CDS	ENST00000515421	ENST00000378717	CDV3	chr3	133306634	-	IMPDH1	chr7	128043784	+
intron-3CDS	ENST00000515421	ENST00000343214	CDV3	chr3	133306634	-	IMPDH1	chr7	128043784	+
intron-3CDS	ENST00000515421	ENST00000348127	CDV3	chr3	133306634	-	IMPDH1	chr7	128043784	+
intron-3CDS	ENST00000515421	ENST00000470772	CDV3	chr3	133306634	-	IMPDH1	chr7	128043784	+
intron-3CDS	ENST00000515421	ENST00000480861	CDV3	chr3	133306634	-	IMPDH1	chr7	128043784	+

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FusionProtFeatures for CDV3_IMPDH1

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

Hgene	Tgene
CDV3 Q9UKY7	IMPDH1 P20839

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 CDV3_IMPDH1

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 CDV3_IMPDH1

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

- 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 CDV3_IMPDH1

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
Tgene	IMPDH1	P20839	DB00811	Ribavirin	Inosine-5'-monophosphate dehydrogenase 1 {ECO:0000255\|HAMAP-Rule:MF_03156}	small molecule	approved
Tgene	IMPDH1	P20839	DB01024	Mycophenolic acid	Inosine-5'-monophosphate dehydrogenase 1 {ECO:0000255\|HAMAP-Rule:MF_03156}	small molecule	approved
Tgene	IMPDH1	P20839	DB01033	Mercaptopurine	Inosine-5'-monophosphate dehydrogenase 1 {ECO:0000255\|HAMAP-Rule:MF_03156}	small molecule	approved

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RelatedDiseases for CDV3_IMPDH1

Diseases associated with fusion partners.
(DisGeNet 4.0)

Partner	Gene	Disease ID	Disease name	# pubmeds	Source
Tgene	IMPDH1	C1867299	Retinitis Pigmentosa 10	3	CTD_human;UNIPROT
Tgene	IMPDH1	C0035334	Retinitis Pigmentosa	2	CTD_human;HPO;ORPHANET
Tgene	IMPDH1	C0339527	Leber Congenital Amaurosis	1	CTD_human;ORPHANET
Tgene	IMPDH1	C1840284	LEBER CONGENITAL AMAUROSIS 11	1	UNIPROT

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Fusion gene ID: 6674

FusionGeneSummary for CDV3_IMPDH1

FusionProtFeatures for CDV3_IMPDH1

FusionGeneSequence for CDV3_IMPDH1

FusionGenePPI for CDV3_IMPDH1

RelatedDrugs for CDV3_IMPDH1

RelatedDiseases for CDV3_IMPDH1