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Center for Computational Systems Medicine
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FusionGeneSummary

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FusionProtFeature

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FusionGeneSequence

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FusionGenePPI

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RelatedDrugs

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RelatedDiseases

Fusion gene ID: 6674

FusionGeneSummary for CDV3_IMPDH1

check button Fusion gene summary
Fusion gene informationFusion gene name: CDV3_IMPDH1
Fusion gene ID: 6674
HgeneTgene
Gene symbol

CDV3

IMPDH1

Gene ID

55573

3614

Gene nameCDV3 homologinosine monophosphate dehydrogenase 1
SynonymsH41IMPD|IMPD1|IMPDH-I|LCA11|RP10|sWSS2608
Cytomap

3q22.1

7q32.1

Type of geneprotein-codingprotein-coding
Descriptionprotein CDV3 homologcarnitine deficiency-associated gene expressed in ventricle 3inosine-5'-monophosphate dehydrogenase 1IMP (inosine 5'-monophosphate) dehydrogenase 1IMP (inosine monophosphate) dehydrogenase 1IMPD 1IMPDH 1
Modification date2018051920180523
UniProtAcc

Q9UKY7

P20839

Ensembl transtripts involved in fusion geneENST00000264993, ENST00000431519, 
ENST00000508481, ENST00000420115, 
ENST00000511392, ENST00000515421, 
ENST00000419067, ENST00000338791, 
ENST00000496200, ENST00000354269, 
ENST00000378717, ENST00000343214, 
ENST00000348127, ENST00000470772, 
ENST00000480861, 
Fusion gene scores* DoF score4 X 3 X 3=361 X 1 X 1=1
# samples 41
** MAII scorelog2(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)

check button Gene ontology of each fusion partner gene with evidence of Inferred from Direct Assay (IDA) from Entrez
PartnerGeneGO IDGO termPubMed ID

check button 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 typeSourceCancer typeSampleHgeneHchrHbpHstrandTgeneTchrTbpTstrand
ChiTaRS3.1BG954732CDV3chr3

133306634

-IMPDH1chr7

128043784

+
* LD: Li Ding group's fusion gene list
  RV: Roel Verhaak group's fusion gene list
  ChiTaRs fusion database

check button 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.
ORFHenstTenstHgeneHchrHbpHstrandTgeneTchrTbpTstrand
intron-3CDSENST00000264993ENST00000419067CDV3chr3

133306634

-IMPDH1chr7

128043784

+
intron-3CDSENST00000264993ENST00000338791CDV3chr3

133306634

-IMPDH1chr7

128043784

+
intron-3CDSENST00000264993ENST00000496200CDV3chr3

133306634

-IMPDH1chr7

128043784

+
intron-3CDSENST00000264993ENST00000354269CDV3chr3

133306634

-IMPDH1chr7

128043784

+
intron-3CDSENST00000264993ENST00000378717CDV3chr3

133306634

-IMPDH1chr7

128043784

+
intron-3CDSENST00000264993ENST00000343214CDV3chr3

133306634

-IMPDH1chr7

128043784

+
intron-3CDSENST00000264993ENST00000348127CDV3chr3

133306634

-IMPDH1chr7

128043784

+
intron-3CDSENST00000264993ENST00000470772CDV3chr3

133306634

-IMPDH1chr7

128043784

+
intron-3CDSENST00000264993ENST00000480861CDV3chr3

133306634

-IMPDH1chr7

128043784

+
intron-3CDSENST00000431519ENST00000419067CDV3chr3

133306634

-IMPDH1chr7

128043784

+
intron-3CDSENST00000431519ENST00000338791CDV3chr3

133306634

-IMPDH1chr7

128043784

+
intron-3CDSENST00000431519ENST00000496200CDV3chr3

133306634

-IMPDH1chr7

128043784

+
intron-3CDSENST00000431519ENST00000354269CDV3chr3

133306634

-IMPDH1chr7

128043784

+
intron-3CDSENST00000431519ENST00000378717CDV3chr3

133306634

-IMPDH1chr7

128043784

+
intron-3CDSENST00000431519ENST00000343214CDV3chr3

133306634

-IMPDH1chr7

128043784

+
intron-3CDSENST00000431519ENST00000348127CDV3chr3

133306634

-IMPDH1chr7

128043784

+
intron-3CDSENST00000431519ENST00000470772CDV3chr3

133306634

-IMPDH1chr7

128043784

+
intron-3CDSENST00000431519ENST00000480861CDV3chr3

133306634

-IMPDH1chr7

128043784

+
intron-3CDSENST00000508481ENST00000419067CDV3chr3

133306634

-IMPDH1chr7

128043784

+
intron-3CDSENST00000508481ENST00000338791CDV3chr3

133306634

-IMPDH1chr7

128043784

+
intron-3CDSENST00000508481ENST00000496200CDV3chr3

133306634

-IMPDH1chr7

128043784

+
intron-3CDSENST00000508481ENST00000354269CDV3chr3

133306634

-IMPDH1chr7

128043784

+
intron-3CDSENST00000508481ENST00000378717CDV3chr3

133306634

-IMPDH1chr7

128043784

+
intron-3CDSENST00000508481ENST00000343214CDV3chr3

133306634

-IMPDH1chr7

128043784

+
intron-3CDSENST00000508481ENST00000348127CDV3chr3

133306634

-IMPDH1chr7

128043784

+
intron-3CDSENST00000508481ENST00000470772CDV3chr3

133306634

-IMPDH1chr7

128043784

+
intron-3CDSENST00000508481ENST00000480861CDV3chr3

133306634

-IMPDH1chr7

128043784

+
3UTR-3CDSENST00000420115ENST00000419067CDV3chr3

133306634

-IMPDH1chr7

128043784

+
3UTR-3CDSENST00000420115ENST00000338791CDV3chr3

133306634

-IMPDH1chr7

128043784

+
3UTR-3CDSENST00000420115ENST00000496200CDV3chr3

133306634

-IMPDH1chr7

128043784

+
3UTR-3CDSENST00000420115ENST00000354269CDV3chr3

133306634

-IMPDH1chr7

128043784

+
3UTR-3CDSENST00000420115ENST00000378717CDV3chr3

133306634

-IMPDH1chr7

128043784

+
3UTR-3CDSENST00000420115ENST00000343214CDV3chr3

133306634

-IMPDH1chr7

128043784

+
3UTR-3CDSENST00000420115ENST00000348127CDV3chr3

133306634

-IMPDH1chr7

128043784

+
3UTR-3CDSENST00000420115ENST00000470772CDV3chr3

133306634

-IMPDH1chr7

128043784

+
3UTR-3CDSENST00000420115ENST00000480861CDV3chr3

133306634

-IMPDH1chr7

128043784

+
intron-3CDSENST00000511392ENST00000419067CDV3chr3

133306634

-IMPDH1chr7

128043784

+
intron-3CDSENST00000511392ENST00000338791CDV3chr3

133306634

-IMPDH1chr7

128043784

+
intron-3CDSENST00000511392ENST00000496200CDV3chr3

133306634

-IMPDH1chr7

128043784

+
intron-3CDSENST00000511392ENST00000354269CDV3chr3

133306634

-IMPDH1chr7

128043784

+
intron-3CDSENST00000511392ENST00000378717CDV3chr3

133306634

-IMPDH1chr7

128043784

+
intron-3CDSENST00000511392ENST00000343214CDV3chr3

133306634

-IMPDH1chr7

128043784

+
intron-3CDSENST00000511392ENST00000348127CDV3chr3

133306634

-IMPDH1chr7

128043784

+
intron-3CDSENST00000511392ENST00000470772CDV3chr3

133306634

-IMPDH1chr7

128043784

+
intron-3CDSENST00000511392ENST00000480861CDV3chr3

133306634

-IMPDH1chr7

128043784

+
intron-3CDSENST00000515421ENST00000419067CDV3chr3

133306634

-IMPDH1chr7

128043784

+
intron-3CDSENST00000515421ENST00000338791CDV3chr3

133306634

-IMPDH1chr7

128043784

+
intron-3CDSENST00000515421ENST00000496200CDV3chr3

133306634

-IMPDH1chr7

128043784

+
intron-3CDSENST00000515421ENST00000354269CDV3chr3

133306634

-IMPDH1chr7

128043784

+
intron-3CDSENST00000515421ENST00000378717CDV3chr3

133306634

-IMPDH1chr7

128043784

+
intron-3CDSENST00000515421ENST00000343214CDV3chr3

133306634

-IMPDH1chr7

128043784

+
intron-3CDSENST00000515421ENST00000348127CDV3chr3

133306634

-IMPDH1chr7

128043784

+
intron-3CDSENST00000515421ENST00000470772CDV3chr3

133306634

-IMPDH1chr7

128043784

+
intron-3CDSENST00000515421ENST00000480861CDV3chr3

133306634

-IMPDH1chr7

128043784

+

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FusionProtFeatures for CDV3_IMPDH1


check buttonMain function of each fusion partner protein. (from UniProt)
HgeneTgene
CDV3

Q9UKY7

IMPDH1

P20839


check buttonRetention 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.
PartnerGeneHbpTbpENSTStrandBPexonTotalExonProtein feature loci*BPlociTotalLenProtein featureProtein feature note

- In-frame and not-retained protein feature among the 13 regional features.
PartnerGeneHbpTbpENSTStrandBPexonTotalExonProtein feature loci*BPlociTotalLenProtein featureProtein feature note


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FusionGeneSequence for CDV3_IMPDH1


check button 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


check button Go to ChiPPI (Chimeric Protein-Protein interactions) to see the chimeric PPI interaction in

ChiPPI page

.

check button Protein-protein interactors with each fusion partner protein in wild-type (BIOGRID-3.4.160)
HgeneHgene's interactorsTgeneTgene's interactors


check button - Retained PPIs in in-frame fusion.
PartnerGeneHbpTbpENSTStrandBPexonTotalExonProtein feature loci*BPlociTotalLenStill interaction with


check button - Lost PPIs in in-frame fusion.
PartnerGeneHbpTbpENSTStrandBPexonTotalExonProtein feature loci*BPlociTotalLenInteraction lost with


check button - Retained PPIs, but lost function due to frame-shift fusion.
PartnerGeneHbpTbpENSTStrandBPexonTotalExonProtein feature loci*BPlociTotalLenInteraction lost with


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RelatedDrugs for CDV3_IMPDH1


check button Drugs targeting genes involved in this fusion gene.
(DrugBank Version 5.1.0 2018-04-02)
PartnerGeneUniProtAccDrugBank IDDrug nameDrug activityDrug typeDrug status
TgeneIMPDH1P20839DB00811RibavirinInosine-5'-monophosphate dehydrogenase 1 {ECO:0000255|HAMAP-Rule:MF_03156}small moleculeapproved
TgeneIMPDH1P20839DB01024Mycophenolic acidInosine-5'-monophosphate dehydrogenase 1 {ECO:0000255|HAMAP-Rule:MF_03156}small moleculeapproved
TgeneIMPDH1P20839DB01033MercaptopurineInosine-5'-monophosphate dehydrogenase 1 {ECO:0000255|HAMAP-Rule:MF_03156}small moleculeapproved

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RelatedDiseases for CDV3_IMPDH1


check button Diseases associated with fusion partners.
(DisGeNet 4.0)
PartnerGeneDisease IDDisease name# pubmedsSource
TgeneIMPDH1C1867299Retinitis Pigmentosa 103CTD_human;UNIPROT
TgeneIMPDH1C0035334Retinitis Pigmentosa2CTD_human;HPO;ORPHANET
TgeneIMPDH1C0339527Leber Congenital Amaurosis1CTD_human;ORPHANET
TgeneIMPDH1C1840284LEBER CONGENITAL AMAUROSIS 111UNIPROT