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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: 40341

FusionGeneSummary for UBAC2_IDH3B

check button Fusion gene summary
Fusion gene informationFusion gene name: UBAC2_IDH3B
Fusion gene ID: 40341
HgeneTgene
Gene symbol

UBAC2

IDH3B

Gene ID

337867

3420

Gene nameUBA domain containing 2isocitrate dehydrogenase 3 (NAD(+)) beta
SynonymsPHGDHL1RP46
Cytomap

13q32.3

20p13

Type of geneprotein-codingprotein-coding
Descriptionubiquitin-associated domain-containing protein 2RP11-178C10.1UBA domain-containing protein 2phosphoglycerate dehydrogenase like 1phosphoglycerate dehydrogenase-like protein 1isocitrate dehydrogenase [NAD] subunit beta, mitochondrialNAD(+)-specific ICDH subunit betaisocitrate dehydrogenase 3 (NAD+) betaisocitric dehydrogenase subunit beta
Modification date2018051920180522
UniProtAcc

Q8NBM4

O43837

Ensembl transtripts involved in fusion geneENST00000403766, ENST00000376440, 
ENST00000460562, 
ENST00000488299, 
ENST00000380843, ENST00000380851, 
Fusion gene scores* DoF score5 X 6 X 5=1505 X 5 X 2=50
# samples 97
** MAII scorelog2(9/150*10)=-0.736965594166206
possibly effective Gene in Pan-Cancer Fusion Genes (peGinPCFGs).
DoF>8 and MAII<0
log2(7/50*10)=0.485426827170242
effective Gene in Pan-Cancer Fusion Genes (eGinPCFGs).
DoF>8 and MAII>0
Context

PubMed: UBAC2 [Title/Abstract] AND IDH3B [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
HgeneUBAC2

GO:0070972

protein localization to endoplasmic reticulum

23297223


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
ChiTaRS3.1AF023265UBAC2chr13

100038542

-IDH3Bchr20

2644835

-
ChiTaRS3.1AF023266UBAC2chr13

100038542

-IDH3Bchr20

2644835

-
ChiTaRS3.1U49283UBAC2chr13

100038542

-IDH3Bchr20

2644835

-
* 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-3CDSENST00000403766ENST00000488299UBAC2chr13

100038542

-IDH3Bchr20

2644835

-
intron-5UTRENST00000403766ENST00000380843UBAC2chr13

100038542

-IDH3Bchr20

2644835

-
intron-5UTRENST00000403766ENST00000380851UBAC2chr13

100038542

-IDH3Bchr20

2644835

-
3UTR-3CDSENST00000376440ENST00000488299UBAC2chr13

100038542

-IDH3Bchr20

2644835

-
3UTR-5UTRENST00000376440ENST00000380843UBAC2chr13

100038542

-IDH3Bchr20

2644835

-
3UTR-5UTRENST00000376440ENST00000380851UBAC2chr13

100038542

-IDH3Bchr20

2644835

-
3UTR-3CDSENST00000460562ENST00000488299UBAC2chr13

100038542

-IDH3Bchr20

2644835

-
3UTR-5UTRENST00000460562ENST00000380843UBAC2chr13

100038542

-IDH3Bchr20

2644835

-
3UTR-5UTRENST00000460562ENST00000380851UBAC2chr13

100038542

-IDH3Bchr20

2644835

-

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FusionProtFeatures for UBAC2_IDH3B


check buttonMain function of each fusion partner protein. (from UniProt)
HgeneTgene
UBAC2

Q8NBM4

IDH3B

O43837


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 UBAC2_IDH3B


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 UBAC2_IDH3B


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 UBAC2_IDH3B


check button Drugs targeting genes involved in this fusion gene.
(DrugBank Version 5.1.0 2018-04-02)
PartnerGeneUniProtAccDrugBank IDDrug nameDrug activityDrug typeDrug status

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RelatedDiseases for UBAC2_IDH3B


check button Diseases associated with fusion partners.
(DisGeNet 4.0)
PartnerGeneDisease IDDisease name# pubmedsSource
TgeneIDH3BC0035334Retinitis Pigmentosa1CTD_human;HPO;ORPHANET
TgeneIDH3BC0038356Stomach Neoplasms1CTD_human
TgeneIDH3BC2675496Retinitis Pigmentosa 461UNIPROT