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Center for Computational Systems Medicine
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Fusion Gene Summary

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Fusion Gene ORF analysis

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Fusion Genomic Features

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Fusion Protein Features

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Fusion Gene Sequence

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Fusion Gene PPI analysis

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Related Drugs

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Related Diseases

Fusion gene:UGDH-SMIM14 (FusionGDB2 ID:95971)

Fusion Gene Summary for UGDH-SMIM14

check button Fusion gene summary
Fusion gene informationFusion gene name: UGDH-SMIM14
Fusion gene ID: 95971
HgeneTgene
Gene symbol

UGDH

SMIM14

Gene ID

7358

201895

Gene nameUDP-glucose 6-dehydrogenasesmall integral membrane protein 14
SynonymsEIEE84|GDH|UDP-GlcDH|UDPGDH|UGDC4orf34
Cytomap

4p14

4p14

Type of geneprotein-codingprotein-coding
DescriptionUDP-glucose 6-dehydrogenaseUDP-Glc dehydrogenaseUDP-glucose dehydrogenaseuridine diphospho-glucose dehydrogenasesmall integral membrane protein 14
Modification date2020031320200313
UniProtAcc.

Q96QK8

Ensembl transtripts involved in fusion geneENST00000316423, ENST00000501493, 
ENST00000506179, ENST00000507089, 
ENST00000515398, 		ENST00000295958, 
ENST00000511809, ENST00000510628, 
Fusion gene scores* DoF score6 X 6 X 5=18012 X 7 X 8=672
# samples 713
** MAII scorelog2(7/180*10)=-1.36257007938471
possibly effective Gene in Pan-Cancer Fusion Genes (peGinPCFGs).
DoF>8 and MAII<0		log2(13/672*10)=-2.36994960975031
possibly effective Gene in Pan-Cancer Fusion Genes (peGinPCFGs).
DoF>8 and MAII<0
Context

PubMed: UGDH [Title/Abstract] AND SMIM14 [Title/Abstract] AND fusion [Title/Abstract]

Most frequent breakpointUGDH(39512243)-SMIM14(39551814), # samples:1
UGDH(39522971)-SMIM14(39574083), # samples:1
Anticipated loss of major functional domain due to fusion event.UGDH-SMIM14 seems lost the major protein functional domain in Hgene partner, which is a cell metabolism gene due to the frame-shifted ORF.
UGDH-SMIM14 seems lost the major protein functional domain in Hgene partner, which is a essential gene due to the frame-shifted ORF.
UGDH-SMIM14 seems lost the major protein functional domain in Tgene partner, which is a essential gene due to the frame-shifted ORF.
* 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
HgeneUGDH

GO:0006065

UDP-glucuronate biosynthetic process

27966912

HgeneUGDH

GO:0034214

protein hexamerization

27966912


check buttonFusion gene breakpoints across UGDH (5'-gene)
* Click on the image to open the UCSC genome browser with custom track showing this image in a new window.

check buttonFusion gene breakpoints across SMIM14 (3'-gene)
* Click on the image to open the UCSC genome browser with custom track showing this image in a new window.

check button Fusion gene information from two resources (ChiTars 5.0 and ChimerDB 4.0)
* 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.
SourceDiseaseSampleHgeneHchrHbpHstrandTgeneTchrTbpTstrand
ChimerDB4BRCATCGA-D8-A27F-01AUGDHchr4

39512243

-SMIM14chr4

39551814

-
ChimerDB4LUSCTCGA-60-2710UGDHchr4

39522971

-SMIM14chr4

39574083

-


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Fusion Gene ORF analysis for UGDH-SMIM14

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-3UTRENST00000316423ENST00000295958UGDHchr4

39512243

-SMIM14chr4

39551814

-
intron-intronENST00000316423ENST00000511809UGDHchr4

39512243

-SMIM14chr4

39551814

-
intron-intronENST00000316423ENST00000510628UGDHchr4

39512243

-SMIM14chr4

39551814

-
intron-3UTRENST00000501493ENST00000295958UGDHchr4

39512243

-SMIM14chr4

39551814

-
intron-intronENST00000501493ENST00000511809UGDHchr4

39512243

-SMIM14chr4

39551814

-
intron-intronENST00000501493ENST00000510628UGDHchr4

39512243

-SMIM14chr4

39551814

-
intron-3UTRENST00000506179ENST00000295958UGDHchr4

39512243

-SMIM14chr4

39551814

-
intron-intronENST00000506179ENST00000511809UGDHchr4

39512243

-SMIM14chr4

39551814

-
intron-intronENST00000506179ENST00000510628UGDHchr4

39512243

-SMIM14chr4

39551814

-
intron-3UTRENST00000507089ENST00000295958UGDHchr4

39512243

-SMIM14chr4

39551814

-
intron-intronENST00000507089ENST00000511809UGDHchr4

39512243

-SMIM14chr4

39551814

-
intron-intronENST00000507089ENST00000510628UGDHchr4

39512243

-SMIM14chr4

39551814

-
intron-3UTRENST00000515398ENST00000295958UGDHchr4

39512243

-SMIM14chr4

39551814

-
intron-intronENST00000515398ENST00000511809UGDHchr4

39512243

-SMIM14chr4

39551814

-
intron-intronENST00000515398ENST00000510628UGDHchr4

39512243

-SMIM14chr4

39551814

-
In-frameENST00000316423ENST00000295958UGDHchr4

39522971

-SMIM14chr4

39574083

-
In-frameENST00000316423ENST00000511809UGDHchr4

39522971

-SMIM14chr4

39574083

-
5CDS-5UTRENST00000316423ENST00000510628UGDHchr4

39522971

-SMIM14chr4

39574083

-
In-frameENST00000501493ENST00000295958UGDHchr4

39522971

-SMIM14chr4

39574083

-
In-frameENST00000501493ENST00000511809UGDHchr4

39522971

-SMIM14chr4

39574083

-
5CDS-5UTRENST00000501493ENST00000510628UGDHchr4

39522971

-SMIM14chr4

39574083

-
Frame-shiftENST00000506179ENST00000295958UGDHchr4

39522971

-SMIM14chr4

39574083

-
Frame-shiftENST00000506179ENST00000511809UGDHchr4

39522971

-SMIM14chr4

39574083

-
5CDS-5UTRENST00000506179ENST00000510628UGDHchr4

39522971

-SMIM14chr4

39574083

-
intron-3CDSENST00000507089ENST00000295958UGDHchr4

39522971

-SMIM14chr4

39574083

-
intron-3CDSENST00000507089ENST00000511809UGDHchr4

39522971

-SMIM14chr4

39574083

-
intron-5UTRENST00000507089ENST00000510628UGDHchr4

39522971

-SMIM14chr4

39574083

-
intron-3CDSENST00000515398ENST00000295958UGDHchr4

39522971

-SMIM14chr4

39574083

-
intron-3CDSENST00000515398ENST00000511809UGDHchr4

39522971

-SMIM14chr4

39574083

-
intron-5UTRENST00000515398ENST00000510628UGDHchr4

39522971

-SMIM14chr4

39574083

-

check buttonORFfinder result based on the fusion transcript sequence of in-frame fusion genes.
HenstTenstHgeneHchrHbpHstrandTgeneTchrTbpTstrandSeq length
(transcript)		BP loci
(transcript)		Predicted start
(transcript)		Predicted stop
(transcript)		Seq length
(amino acids)

check buttonDeepORF prediction of the coding potential based on the fusion transcript sequence of in-frame fusion genes. DeepORF is a coding potential classifier based on convolutional neural network by comparing the real Ribo-seq data. If the no-coding score < 0.5 and coding score > 0.5, then the in-frame fusion transcript is predicted as being likely translated.
HenstTenstHgeneHchrHbpHstrandTgeneTchrTbpTstrandNo-coding scoreCoding score

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Fusion Genomic Features for UGDH-SMIM14


check buttonFusionAI prediction of the potential fusion gene breakpoint based on the pre-mature RNA sequence context (+/- 5kb of individual partner genes, total 20kb length sequence). FusionAI is a fusion gene breakpoint classifier based on convolutional neural network by comparing the fusion positive and negative sequence context of ~ 20K fusion gene data. From here, we can have the relative potentency of the 20K genomic sequence how individual sequnce will be likely used as the gene fusion breakpoints.
HgeneHchrHbpHstrandTgeneTchrTbpTstrand1-pp (fusion gene breakpoint)

check buttonDistribution of 44 human genomic features loci across 20kb length fusion breakpoint regions. We integrated a total of 44 different types of human genomic feature loci information across five big categories including virus integration sites, repeats, structural variants, chromatin states, and gene expression regulation. More details are in help page.

check buttonDistribution of 44 human genomic features loci across 20kb length fusion breakpoint regions that are ovelapped with the top 1% feature importance score regions. More details are in help page.

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Fusion Protein Features for UGDH-SMIM14


check button Go to

FGviewer for the breakpoints of chr4:39522971-chr4:39574083

.
- FGviewer provides the online visualization of the retention search of the protein functional features across DNA, RNA, protein, and pathological levels.
FGviewer

check buttonMain function of each fusion partner protein. (from UniProt)
HgeneTgene
.SMIM14

Q96QK8

FUNCTION: Might normally function as a transcriptional repressor. EWS-fusion-proteins (EFPS) may play a role in the tumorigenic process. They may disturb gene expression by mimicking, or interfering with the normal function of CTD-POLII within the transcription initiation complex. They may also contribute to an aberrant activation of the fusion protein target genes.

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
HgeneUGDHchr4:39522971chr4:39574083ENST00000316423-21211_1654.0495.0Nucleotide bindingNAD
HgeneUGDHchr4:39522971chr4:39574083ENST00000501493-21111_1654.0428.0Nucleotide bindingNAD
HgeneUGDHchr4:39522971chr4:39574083ENST00000506179-21211_1654.0495.0Nucleotide bindingNAD
TgeneSMIM14chr4:39522971chr4:39574083ENST000002959581571_9925.0100.0Topological domainCytoplasmic
TgeneSMIM14chr4:39522971chr4:39574083ENST000002959581550_7025.0100.0TransmembraneHelical

- In-frame and not-retained protein feature among the 13 regional features.
PartnerGeneHbpTbpENSTStrandBPexonTotalExonProtein feature loci*BPlociTotalLenProtein featureProtein feature note
HgeneUGDHchr4:39522971chr4:39574083ENST00000316423-212130_13254.0495.0Nucleotide bindingNAD
HgeneUGDHchr4:39522971chr4:39574083ENST00000316423-212276_27954.0495.0Nucleotide bindingNAD
HgeneUGDHchr4:39522971chr4:39574083ENST00000316423-21289_9354.0495.0Nucleotide bindingNAD
HgeneUGDHchr4:39522971chr4:39574083ENST00000501493-211130_13254.0428.0Nucleotide bindingNAD
HgeneUGDHchr4:39522971chr4:39574083ENST00000501493-211276_27954.0428.0Nucleotide bindingNAD
HgeneUGDHchr4:39522971chr4:39574083ENST00000501493-21189_9354.0428.0Nucleotide bindingNAD
HgeneUGDHchr4:39522971chr4:39574083ENST00000506179-212130_13254.0495.0Nucleotide bindingNAD
HgeneUGDHchr4:39522971chr4:39574083ENST00000506179-212276_27954.0495.0Nucleotide bindingNAD
HgeneUGDHchr4:39522971chr4:39574083ENST00000506179-21289_9354.0495.0Nucleotide bindingNAD
HgeneUGDHchr4:39522971chr4:39574083ENST00000507089-11111_160398.0Nucleotide bindingNAD
HgeneUGDHchr4:39522971chr4:39574083ENST00000507089-111130_1320398.0Nucleotide bindingNAD
HgeneUGDHchr4:39522971chr4:39574083ENST00000507089-111276_2790398.0Nucleotide bindingNAD
HgeneUGDHchr4:39522971chr4:39574083ENST00000507089-11189_930398.0Nucleotide bindingNAD
HgeneUGDHchr4:39522971chr4:39574083ENST00000316423-212129_13554.0495.0RegionAllosteric switch region
HgeneUGDHchr4:39522971chr4:39574083ENST00000316423-212161_16554.0495.0RegionSubstrate binding
HgeneUGDHchr4:39522971chr4:39574083ENST00000316423-212220_22454.0495.0RegionSubstrate binding
HgeneUGDHchr4:39522971chr4:39574083ENST00000316423-212267_27354.0495.0RegionSubstrate binding
HgeneUGDHchr4:39522971chr4:39574083ENST00000316423-212321_32554.0495.0RegionImportant for formation of active hexamer structure
HgeneUGDHchr4:39522971chr4:39574083ENST00000316423-212338_33954.0495.0RegionSubstrate binding
HgeneUGDHchr4:39522971chr4:39574083ENST00000316423-212466_49454.0495.0RegionIntrinsically disordered
HgeneUGDHchr4:39522971chr4:39574083ENST00000316423-21288_11054.0495.0RegionIntrinsically disordered%3B important for formation of active hexamer structure
HgeneUGDHchr4:39522971chr4:39574083ENST00000501493-211129_13554.0428.0RegionAllosteric switch region
HgeneUGDHchr4:39522971chr4:39574083ENST00000501493-211161_16554.0428.0RegionSubstrate binding
HgeneUGDHchr4:39522971chr4:39574083ENST00000501493-211220_22454.0428.0RegionSubstrate binding
HgeneUGDHchr4:39522971chr4:39574083ENST00000501493-211267_27354.0428.0RegionSubstrate binding
HgeneUGDHchr4:39522971chr4:39574083ENST00000501493-211321_32554.0428.0RegionImportant for formation of active hexamer structure
HgeneUGDHchr4:39522971chr4:39574083ENST00000501493-211338_33954.0428.0RegionSubstrate binding
HgeneUGDHchr4:39522971chr4:39574083ENST00000501493-211466_49454.0428.0RegionIntrinsically disordered
HgeneUGDHchr4:39522971chr4:39574083ENST00000501493-21188_11054.0428.0RegionIntrinsically disordered%3B important for formation of active hexamer structure
HgeneUGDHchr4:39522971chr4:39574083ENST00000506179-212129_13554.0495.0RegionAllosteric switch region
HgeneUGDHchr4:39522971chr4:39574083ENST00000506179-212161_16554.0495.0RegionSubstrate binding
HgeneUGDHchr4:39522971chr4:39574083ENST00000506179-212220_22454.0495.0RegionSubstrate binding
HgeneUGDHchr4:39522971chr4:39574083ENST00000506179-212267_27354.0495.0RegionSubstrate binding
HgeneUGDHchr4:39522971chr4:39574083ENST00000506179-212321_32554.0495.0RegionImportant for formation of active hexamer structure
HgeneUGDHchr4:39522971chr4:39574083ENST00000506179-212338_33954.0495.0RegionSubstrate binding
HgeneUGDHchr4:39522971chr4:39574083ENST00000506179-212466_49454.0495.0RegionIntrinsically disordered
HgeneUGDHchr4:39522971chr4:39574083ENST00000506179-21288_11054.0495.0RegionIntrinsically disordered%3B important for formation of active hexamer structure
HgeneUGDHchr4:39522971chr4:39574083ENST00000507089-111129_1350398.0RegionAllosteric switch region
HgeneUGDHchr4:39522971chr4:39574083ENST00000507089-111161_1650398.0RegionSubstrate binding
HgeneUGDHchr4:39522971chr4:39574083ENST00000507089-111220_2240398.0RegionSubstrate binding
HgeneUGDHchr4:39522971chr4:39574083ENST00000507089-111267_2730398.0RegionSubstrate binding
HgeneUGDHchr4:39522971chr4:39574083ENST00000507089-111321_3250398.0RegionImportant for formation of active hexamer structure
HgeneUGDHchr4:39522971chr4:39574083ENST00000507089-111338_3390398.0RegionSubstrate binding
HgeneUGDHchr4:39522971chr4:39574083ENST00000507089-111466_4940398.0RegionIntrinsically disordered
HgeneUGDHchr4:39522971chr4:39574083ENST00000507089-11188_1100398.0RegionIntrinsically disordered%3B important for formation of active hexamer structure
TgeneSMIM14chr4:39522971chr4:39574083ENST00000295958151_4925.0100.0Topological domainLumenal


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Fusion Gene Sequence for UGDH-SMIM14


check button For in-frame fusion transcripts, we provide the fusion transcript sequences and fusion amino acid sequences. To have fusion amino acid sequence, we ran ORFfinder and chose the longest ORF among the all predicted ones.

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Fusion Gene PPI Analysis for UGDH-SMIM14


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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Related Drugs for UGDH-SMIM14


check button Drugs targeting genes involved in this fusion gene.
(DrugBank Version 5.1.8 2021-05-08)
PartnerGeneUniProtAccDrugBank IDDrug nameDrug activityDrug typeDrug status

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Related Diseases for UGDH-SMIM14


check button Diseases associated with fusion partners.
(DisGeNet 4.0)
PartnerGeneDisease IDDisease name# pubmedsSource
HgeneUGDHC0023903Liver neoplasms1CTD_human
HgeneUGDHC0345904Malignant neoplasm of liver1CTD_human