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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:UGP2-MDH1 (FusionGDB2 ID:95992)

Fusion Gene Summary for UGP2-MDH1

check button Fusion gene summary
Fusion gene informationFusion gene name: UGP2-MDH1
Fusion gene ID: 95992
HgeneTgene
Gene symbol

UGP2

MDH1

Gene ID

7360

4190

Gene nameUDP-glucose pyrophosphorylase 2malate dehydrogenase 1
SynonymsEIEE83|SVUGP2|UDPG|UDPGP|UDPGP2|UGP1|UGPP1|UGPP2|pHC379HEL-S-32|MDH-s|MDHA|MGC:1375|MOR2
Cytomap

2p15

2p15

Type of geneprotein-codingprotein-coding
DescriptionUTP--glucose-1-phosphate uridylyltransferaseUDP-glucose diphosphorylaseUDP-glucose pyrophosphorylase 1UGPase 2UTP--glucose-1-phosphate uridylyltransferase 2UTP-glucose-1-phosphate uridyltransferaseUridyl diphosphate glucose pyrophosphorylase-1testimalate dehydrogenase, cytoplasmicmalate dehydrogenase, peroxisomalcytosolic malate dehydrogenasediiodophenylpyruvate reductaseepididymis secretory protein Li 32malate dehydrogenase 1, NAD (soluble)soluble malate dehydrogenase
Modification date2020031320200313
UniProtAcc.

P40925

Ensembl transtripts involved in fusion geneENST00000394417, ENST00000467648, 
ENST00000487469, ENST00000337130, 
ENST00000445915, 		ENST00000233114, 
ENST00000409908, ENST00000409476, 
ENST00000539945, ENST00000544381, 
ENST00000394423, ENST00000462944, 
Fusion gene scores* DoF score6 X 4 X 4=966 X 8 X 4=192
# samples 69
** MAII scorelog2(6/96*10)=-0.678071905112638
possibly effective Gene in Pan-Cancer Fusion Genes (peGinPCFGs).
DoF>8 and MAII<0		log2(9/192*10)=-1.09310940439148
possibly effective Gene in Pan-Cancer Fusion Genes (peGinPCFGs).
DoF>8 and MAII<0
Context

PubMed: UGP2 [Title/Abstract] AND MDH1 [Title/Abstract] AND fusion [Title/Abstract]

Most frequent breakpointUGP2(64085070)-MDH1(63821622), # samples:2
Anticipated loss of major functional domain due to fusion event.
* 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 buttonFusion gene breakpoints across UGP2 (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 MDH1 (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
ChimerDB4LIHCTCGA-BC-A10T-01AUGP2chr2

64085070

+MDH1chr2

63821622

+
ChimerDB4LIHCTCGA-BC-A10T-01AUGP2chr2

64085070

+MDH1chr2

63821622

+


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Fusion Gene ORF analysis for UGP2-MDH1

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
In-frameENST00000394417ENST00000233114UGP2chr2

64085070

+MDH1chr2

63821622

+
5CDS-intronENST00000394417ENST00000409908UGP2chr2

64085070

+MDH1chr2

63821622

+
5CDS-intronENST00000394417ENST00000409476UGP2chr2

64085070

+MDH1chr2

63821622

+
5CDS-intronENST00000394417ENST00000539945UGP2chr2

64085070

+MDH1chr2

63821622

+
5CDS-5UTRENST00000394417ENST00000544381UGP2chr2

64085070

+MDH1chr2

63821622

+
5CDS-5UTRENST00000394417ENST00000394423UGP2chr2

64085070

+MDH1chr2

63821622

+
5CDS-intronENST00000394417ENST00000462944UGP2chr2

64085070

+MDH1chr2

63821622

+
In-frameENST00000467648ENST00000233114UGP2chr2

64085070

+MDH1chr2

63821622

+
5CDS-intronENST00000467648ENST00000409908UGP2chr2

64085070

+MDH1chr2

63821622

+
5CDS-intronENST00000467648ENST00000409476UGP2chr2

64085070

+MDH1chr2

63821622

+
5CDS-intronENST00000467648ENST00000539945UGP2chr2

64085070

+MDH1chr2

63821622

+
5CDS-5UTRENST00000467648ENST00000544381UGP2chr2

64085070

+MDH1chr2

63821622

+
5CDS-5UTRENST00000467648ENST00000394423UGP2chr2

64085070

+MDH1chr2

63821622

+
5CDS-intronENST00000467648ENST00000462944UGP2chr2

64085070

+MDH1chr2

63821622

+
intron-3CDSENST00000487469ENST00000233114UGP2chr2

64085070

+MDH1chr2

63821622

+
intron-intronENST00000487469ENST00000409908UGP2chr2

64085070

+MDH1chr2

63821622

+
intron-intronENST00000487469ENST00000409476UGP2chr2

64085070

+MDH1chr2

63821622

+
intron-intronENST00000487469ENST00000539945UGP2chr2

64085070

+MDH1chr2

63821622

+
intron-5UTRENST00000487469ENST00000544381UGP2chr2

64085070

+MDH1chr2

63821622

+
intron-5UTRENST00000487469ENST00000394423UGP2chr2

64085070

+MDH1chr2

63821622

+
intron-intronENST00000487469ENST00000462944UGP2chr2

64085070

+MDH1chr2

63821622

+
In-frameENST00000337130ENST00000233114UGP2chr2

64085070

+MDH1chr2

63821622

+
5CDS-intronENST00000337130ENST00000409908UGP2chr2

64085070

+MDH1chr2

63821622

+
5CDS-intronENST00000337130ENST00000409476UGP2chr2

64085070

+MDH1chr2

63821622

+
5CDS-intronENST00000337130ENST00000539945UGP2chr2

64085070

+MDH1chr2

63821622

+
5CDS-5UTRENST00000337130ENST00000544381UGP2chr2

64085070

+MDH1chr2

63821622

+
5CDS-5UTRENST00000337130ENST00000394423UGP2chr2

64085070

+MDH1chr2

63821622

+
5CDS-intronENST00000337130ENST00000462944UGP2chr2

64085070

+MDH1chr2

63821622

+
In-frameENST00000445915ENST00000233114UGP2chr2

64085070

+MDH1chr2

63821622

+
5CDS-intronENST00000445915ENST00000409908UGP2chr2

64085070

+MDH1chr2

63821622

+
5CDS-intronENST00000445915ENST00000409476UGP2chr2

64085070

+MDH1chr2

63821622

+
5CDS-intronENST00000445915ENST00000539945UGP2chr2

64085070

+MDH1chr2

63821622

+
5CDS-5UTRENST00000445915ENST00000544381UGP2chr2

64085070

+MDH1chr2

63821622

+
5CDS-5UTRENST00000445915ENST00000394423UGP2chr2

64085070

+MDH1chr2

63821622

+
5CDS-intronENST00000445915ENST00000462944UGP2chr2

64085070

+MDH1chr2

63821622

+

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)
ENST00000394417UGP2chr264085070+ENST00000233114MDH1chr263821622+17415292741530418
ENST00000467648UGP2chr264085070+ENST00000233114MDH1chr263821622+17735613391562407
ENST00000337130UGP2chr264085070+ENST00000233114MDH1chr263821622+19437314761732418
ENST00000445915UGP2chr264085070+ENST00000233114MDH1chr263821622+1561349671350427

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
ENST00000394417ENST00000233114UGP2chr264085070+MDH1chr263821622+0.0003511140.9996489
ENST00000467648ENST00000233114UGP2chr264085070+MDH1chr263821622+0.0003780720.99962187
ENST00000337130ENST00000233114UGP2chr264085070+MDH1chr263821622+0.0003717680.9996282
ENST00000445915ENST00000233114UGP2chr264085070+MDH1chr263821622+0.0003117440.99968827

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Fusion Genomic Features for UGP2-MDH1


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)
UGP2chr264085070+MDH1chr263821621+6.85E-060.9999931
UGP2chr264085070+MDH1chr263821621+6.85E-060.9999931

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 UGP2-MDH1


check button Go to

FGviewer for the breakpoints of chr2:64085070-chr2:63821622

.
- 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
.MDH1

P40925

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.FUNCTION: Catalyzes the reduction of aromatic alpha-keto acids in the presence of NADH (PubMed:3052244). Plays essential roles in the malate-aspartate shuttle and the tricarboxylic acid cycle, important in mitochondrial NADH supply for oxidative phosphorylation (PubMed:31538237). {ECO:0000269|PubMed:3052244, ECO:0000269|PubMed:31538237}.

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
TgeneMDH1chr2:64085070chr2:63821622ENST000002331140911_171.0335.0Nucleotide bindingNAD
TgeneMDH1chr2:64085070chr2:63821622ENST0000023311409129_1311.0335.0Nucleotide bindingNAD
TgeneMDH1chr2:64085070chr2:63821622ENST000003944230911_171.0335.0Nucleotide bindingNAD
TgeneMDH1chr2:64085070chr2:63821622ENST0000039442309129_1311.0335.0Nucleotide bindingNAD
TgeneMDH1chr2:64085070chr2:63821622ENST0000053994509129_13119.0353.0Nucleotide bindingNAD
TgeneMDH1chr2:64085070chr2:63821622ENST000005443810811_170246.0Nucleotide bindingNAD
TgeneMDH1chr2:64085070chr2:63821622ENST0000054438108129_1310246.0Nucleotide bindingNAD

- In-frame and not-retained protein feature among the 13 regional features.
PartnerGeneHbpTbpENSTStrandBPexonTotalExonProtein feature loci*BPlociTotalLenProtein featureProtein feature note
HgeneUGP2chr2:64085070chr2:63821622ENST00000337130+310113_11685.0509.0RegionUTP binding
HgeneUGP2chr2:64085070chr2:63821622ENST00000337130+310115_11685.0509.0RegionSubstrate binding
HgeneUGP2chr2:64085070chr2:63821622ENST00000337130+310251_25385.0509.0RegionSubstrate binding
HgeneUGP2chr2:64085070chr2:63821622ENST00000337130+310457_50885.0509.0RegionNote=Oligomerization
HgeneUGP2chr2:64085070chr2:63821622ENST00000394417+310113_11674.0498.0RegionUTP binding
HgeneUGP2chr2:64085070chr2:63821622ENST00000394417+310115_11674.0498.0RegionSubstrate binding
HgeneUGP2chr2:64085070chr2:63821622ENST00000394417+310251_25374.0498.0RegionSubstrate binding
HgeneUGP2chr2:64085070chr2:63821622ENST00000394417+310457_50874.0498.0RegionNote=Oligomerization
HgeneUGP2chr2:64085070chr2:63821622ENST00000467648+411113_11674.0498.0RegionUTP binding
HgeneUGP2chr2:64085070chr2:63821622ENST00000467648+411115_11674.0498.0RegionSubstrate binding
HgeneUGP2chr2:64085070chr2:63821622ENST00000467648+411251_25374.0498.0RegionSubstrate binding
HgeneUGP2chr2:64085070chr2:63821622ENST00000467648+411457_50874.0498.0RegionNote=Oligomerization
TgeneMDH1chr2:64085070chr2:63821622ENST000005399450911_1719.0353.0Nucleotide bindingNAD


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Fusion Gene Sequence for UGP2-MDH1


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.
>In-frame_ENST00000394417_ENST00000233114_TCGA-BC-A10T-01A_UGP2_chr2_64085070_+_MDH1_chr2_63821622_length(transcript)=1741nt_BP=529nt
CTGTCGGTCCGTGCGGCAGGGACATTTCCGCATTGAAGGGGCTGCTCCGAATGGAGGGGGAGGGGAGGTGTTTAGGAGAAAGTAGGGGCT
GTGGGTGTCGGGAGCCGGCTGACGGGTGGACAAGGGGGGGTTAGCAGCTGGGCTGCGACCGTTAGGGAGGGGCTCAAGGTGTGCATGTGT
GAGGGAAGAGAGAGAGAGAGAAGGGCGCCTCAGAGGTGACTTTCAGCCTGCGAGCCTTCTTCCCGGGGCGCCATAAACGCCCCCAATTTC
CCAGCTGCTAAAGGAAGAGGAAGATCTTAGCAAAGCAATGTCTCAAGATGGTGCTTCTCAGTTCCAAGAAGTCATTCGGCAAGAGCTAGA
ATTATCTGTGAAGAAGGAACTAGAAAAAATACTCACCACAGCATCATCACATGAATTTGAGCACACCAAAAAAGACCTGGATGGATTTCG
GAAGCTATTTCATAGATTTTTGCAAGAAAAGGGGCCTTCTGTGGATTGGGGAAAAATCCAGAGACCCCCTGAAGATTCGTCTGAACCAAT
CAGAGTCCTTGTGACTGGAGCAGCTGGTCAAATTGCATATTCACTGCTGTACAGTATTGGAAATGGATCTGTCTTTGGTAAAGATCAGCC
TATAATTCTTGTGCTGTTGGATATCACCCCCATGATGGGTGTCCTGGACGGTGTCCTAATGGAACTGCAAGACTGTGCCCTTCCCCTCCT
GAAAGATGTCATCGCAACAGATAAAGAAGACGTTGCCTTCAAAGACCTGGATGTGGCCATTCTTGTGGGCTCCATGCCAAGAAGGGAAGG
CATGGAGAGAAAAGATTTACTGAAAGCAAATGTGAAAATCTTCAAATCCCAGGGTGCAGCCTTAGATAAATACGCCAAGAAGTCAGTTAA
GGTTATTGTTGTGGGTAATCCAGCCAATACCAACTGCCTGACTGCTTCCAAGTCAGCTCCATCCATCCCCAAGGAGAACTTCAGTTGCTT
GACTCGTTTGGATCACAACCGAGCTAAAGCTCAAATTGCTCTTAAACTTGGTGTGACTGCTAATGATGTAAAGAATGTCATTATCTGGGG
AAACCATTCCTCGACTCAGTATCCAGATGTCAACCATGCCAAGGTGAAATTGCAAGGAAAGGAAGTTGGTGTTTATGAAGCTCTGAAAGA
TGACAGCTGGCTCAAGGGAGAATTTGTCACGACTGTGCAGCAGCGTGGCGCTGCTGTCATCAAGGCTCGAAAACTATCCAGTGCCATGTC
TGCTGCAAAAGCCATCTGTGACCACGTCAGGGACATCTGGTTTGGAACCCCAGAGGGAGAGTTTGTGTCCATGGGTGTTATCTCTGATGG
CAACTCCTATGGTGTTCCTGATGATCTGCTCTACTCATTCCCTGTTGTAATCAAGAATAAGACCTGGAAGTTTGTTGAAGGTCTCCCTAT
TAATGATTTCTCACGTGAGAAGATGGATCTTACTGCAAAGGAACTGACAGAAGAAAAAGAAAGTGCTTTTGAATTTCTTTCCTCTGCCTG
ACTAGACAATGATGTTACTAAATGCTTCAAAGCTGAAGAATCTAAATGTCGTCTTTGACTCAAGTACCAAATAATAATAATGCTATACTT
AAATTACTTGTGAAAAACAACACATTTTAAAGATTACGTGCTTCTTGGTACAGGTTTGTGAATGACAGTTTATCGTCATGCTGTTAGTGT

>In-frame_ENST00000394417_ENST00000233114_TCGA-BC-A10T-01A_UGP2_chr2_64085070_+_MDH1_chr2_63821622_length(amino acids)=418AA_start in transcript=274_stop in transcript=1530
MLKEEEDLSKAMSQDGASQFQEVIRQELELSVKKELEKILTTASSHEFEHTKKDLDGFRKLFHRFLQEKGPSVDWGKIQRPPEDSSEPIR
VLVTGAAGQIAYSLLYSIGNGSVFGKDQPIILVLLDITPMMGVLDGVLMELQDCALPLLKDVIATDKEDVAFKDLDVAILVGSMPRREGM
ERKDLLKANVKIFKSQGAALDKYAKKSVKVIVVGNPANTNCLTASKSAPSIPKENFSCLTRLDHNRAKAQIALKLGVTANDVKNVIIWGN
HSSTQYPDVNHAKVKLQGKEVGVYEALKDDSWLKGEFVTTVQQRGAAVIKARKLSSAMSAAKAICDHVRDIWFGTPEGEFVSMGVISDGN

--------------------------------------------------------------
>In-frame_ENST00000467648_ENST00000233114_TCGA-BC-A10T-01A_UGP2_chr2_64085070_+_MDH1_chr2_63821622_length(transcript)=1773nt_BP=561nt
GCATTGAAGGGGCTGCTCCGAATGGAGGGGGAGGGGAGGTGTTTAGGAGAAAGTAGGGGCTGTGGGTGTCGGGAGCCGGCTGACGGGTGG
ACAAGGGGGGGTTAGCAGCTGGGCTGCGACCGTTAGGGAGGGGCTCAAGGTGTGCATGTGTGAGGGAAGAGAGAGAGAGAGAAGGGCGCC
TCAGAGGTGACTTTCAGCCTGCGAGCCTTCTTCCCGGGGCGCCATAAACGCCCCCAATTTCCCAGCTGCTAAAGGAAGAGGAAGGTACCT
GTGCGTGCACGCAGACGGGAAGGGCTGGGGAAGCGGGAGGACTGAGAAAAGCCGGATCTTAGCAAAGCAATGTCTCAAGATGGTGCTTCT
CAGTTCCAAGAAGTCATTCGGCAAGAGCTAGAATTATCTGTGAAGAAGGAACTAGAAAAAATACTCACCACAGCATCATCACATGAATTT
GAGCACACCAAAAAAGACCTGGATGGATTTCGGAAGCTATTTCATAGATTTTTGCAAGAAAAGGGGCCTTCTGTGGATTGGGGAAAAATC
CAGAGACCCCCTGAAGATTCGTCTGAACCAATCAGAGTCCTTGTGACTGGAGCAGCTGGTCAAATTGCATATTCACTGCTGTACAGTATT
GGAAATGGATCTGTCTTTGGTAAAGATCAGCCTATAATTCTTGTGCTGTTGGATATCACCCCCATGATGGGTGTCCTGGACGGTGTCCTA
ATGGAACTGCAAGACTGTGCCCTTCCCCTCCTGAAAGATGTCATCGCAACAGATAAAGAAGACGTTGCCTTCAAAGACCTGGATGTGGCC
ATTCTTGTGGGCTCCATGCCAAGAAGGGAAGGCATGGAGAGAAAAGATTTACTGAAAGCAAATGTGAAAATCTTCAAATCCCAGGGTGCA
GCCTTAGATAAATACGCCAAGAAGTCAGTTAAGGTTATTGTTGTGGGTAATCCAGCCAATACCAACTGCCTGACTGCTTCCAAGTCAGCT
CCATCCATCCCCAAGGAGAACTTCAGTTGCTTGACTCGTTTGGATCACAACCGAGCTAAAGCTCAAATTGCTCTTAAACTTGGTGTGACT
GCTAATGATGTAAAGAATGTCATTATCTGGGGAAACCATTCCTCGACTCAGTATCCAGATGTCAACCATGCCAAGGTGAAATTGCAAGGA
AAGGAAGTTGGTGTTTATGAAGCTCTGAAAGATGACAGCTGGCTCAAGGGAGAATTTGTCACGACTGTGCAGCAGCGTGGCGCTGCTGTC
ATCAAGGCTCGAAAACTATCCAGTGCCATGTCTGCTGCAAAAGCCATCTGTGACCACGTCAGGGACATCTGGTTTGGAACCCCAGAGGGA
GAGTTTGTGTCCATGGGTGTTATCTCTGATGGCAACTCCTATGGTGTTCCTGATGATCTGCTCTACTCATTCCCTGTTGTAATCAAGAAT
AAGACCTGGAAGTTTGTTGAAGGTCTCCCTATTAATGATTTCTCACGTGAGAAGATGGATCTTACTGCAAAGGAACTGACAGAAGAAAAA
GAAAGTGCTTTTGAATTTCTTTCCTCTGCCTGACTAGACAATGATGTTACTAAATGCTTCAAAGCTGAAGAATCTAAATGTCGTCTTTGA
CTCAAGTACCAAATAATAATAATGCTATACTTAAATTACTTGTGAAAAACAACACATTTTAAAGATTACGTGCTTCTTGGTACAGGTTTG

>In-frame_ENST00000467648_ENST00000233114_TCGA-BC-A10T-01A_UGP2_chr2_64085070_+_MDH1_chr2_63821622_length(amino acids)=407AA_start in transcript=339_stop in transcript=1562
MSQDGASQFQEVIRQELELSVKKELEKILTTASSHEFEHTKKDLDGFRKLFHRFLQEKGPSVDWGKIQRPPEDSSEPIRVLVTGAAGQIA
YSLLYSIGNGSVFGKDQPIILVLLDITPMMGVLDGVLMELQDCALPLLKDVIATDKEDVAFKDLDVAILVGSMPRREGMERKDLLKANVK
IFKSQGAALDKYAKKSVKVIVVGNPANTNCLTASKSAPSIPKENFSCLTRLDHNRAKAQIALKLGVTANDVKNVIIWGNHSSTQYPDVNH
AKVKLQGKEVGVYEALKDDSWLKGEFVTTVQQRGAAVIKARKLSSAMSAAKAICDHVRDIWFGTPEGEFVSMGVISDGNSYGVPDDLLYS

--------------------------------------------------------------
>In-frame_ENST00000337130_ENST00000233114_TCGA-BC-A10T-01A_UGP2_chr2_64085070_+_MDH1_chr2_63821622_length(transcript)=1943nt_BP=731nt
GGTTTTCGGGGGAGGCGTTTGGGGCCTGGACGGCGGCGCGGGGAGGGGGCAGCTAGGGGCGCGGCCTGCCAGTGCCTCCTGCAGTACAGC
CCTGGAGGGCGTGGGGACTTGGGGGCGGTGAAATAGCCGCTGTAGGTCCGCCTCTTTCATTGAAGAAATTTAAGTTCGTGTGGTTTTACC
TTTTCCGGGAGTCTCCAGCTGGCCCTCATTTGTGTCCGGAGCTCAGGAGTTCCCAAACCGACTCAGTCGCACCAAGTTTCCGTCTTTTGG
AATTGGGGAAGGAGTTTCTTTCTTTCTTTTCTTTTTTCTTGAGCCAGTTTTAATCGCTTTGAATAAATACTCCCTTAAGTAGTTAAATAT
AGGAGGAGAAAGAATACATCGGTTGTTAAAGCAGGAGAGGAAGAGAGACCTGCCCTGTAGCGTGACTCCTCTAGAAAAAAAAAAAAAAAG
CCGGAGTATTTTACTAAGCCCCTAAAATGTCGAGATTTGTACAAGATCTTAGCAAAGCAATGTCTCAAGATGGTGCTTCTCAGTTCCAAG
AAGTCATTCGGCAAGAGCTAGAATTATCTGTGAAGAAGGAACTAGAAAAAATACTCACCACAGCATCATCACATGAATTTGAGCACACCA
AAAAAGACCTGGATGGATTTCGGAAGCTATTTCATAGATTTTTGCAAGAAAAGGGGCCTTCTGTGGATTGGGGAAAAATCCAGAGACCCC
CTGAAGATTCGTCTGAACCAATCAGAGTCCTTGTGACTGGAGCAGCTGGTCAAATTGCATATTCACTGCTGTACAGTATTGGAAATGGAT
CTGTCTTTGGTAAAGATCAGCCTATAATTCTTGTGCTGTTGGATATCACCCCCATGATGGGTGTCCTGGACGGTGTCCTAATGGAACTGC
AAGACTGTGCCCTTCCCCTCCTGAAAGATGTCATCGCAACAGATAAAGAAGACGTTGCCTTCAAAGACCTGGATGTGGCCATTCTTGTGG
GCTCCATGCCAAGAAGGGAAGGCATGGAGAGAAAAGATTTACTGAAAGCAAATGTGAAAATCTTCAAATCCCAGGGTGCAGCCTTAGATA
AATACGCCAAGAAGTCAGTTAAGGTTATTGTTGTGGGTAATCCAGCCAATACCAACTGCCTGACTGCTTCCAAGTCAGCTCCATCCATCC
CCAAGGAGAACTTCAGTTGCTTGACTCGTTTGGATCACAACCGAGCTAAAGCTCAAATTGCTCTTAAACTTGGTGTGACTGCTAATGATG
TAAAGAATGTCATTATCTGGGGAAACCATTCCTCGACTCAGTATCCAGATGTCAACCATGCCAAGGTGAAATTGCAAGGAAAGGAAGTTG
GTGTTTATGAAGCTCTGAAAGATGACAGCTGGCTCAAGGGAGAATTTGTCACGACTGTGCAGCAGCGTGGCGCTGCTGTCATCAAGGCTC
GAAAACTATCCAGTGCCATGTCTGCTGCAAAAGCCATCTGTGACCACGTCAGGGACATCTGGTTTGGAACCCCAGAGGGAGAGTTTGTGT
CCATGGGTGTTATCTCTGATGGCAACTCCTATGGTGTTCCTGATGATCTGCTCTACTCATTCCCTGTTGTAATCAAGAATAAGACCTGGA
AGTTTGTTGAAGGTCTCCCTATTAATGATTTCTCACGTGAGAAGATGGATCTTACTGCAAAGGAACTGACAGAAGAAAAAGAAAGTGCTT
TTGAATTTCTTTCCTCTGCCTGACTAGACAATGATGTTACTAAATGCTTCAAAGCTGAAGAATCTAAATGTCGTCTTTGACTCAAGTACC
AAATAATAATAATGCTATACTTAAATTACTTGTGAAAAACAACACATTTTAAAGATTACGTGCTTCTTGGTACAGGTTTGTGAATGACAG

>In-frame_ENST00000337130_ENST00000233114_TCGA-BC-A10T-01A_UGP2_chr2_64085070_+_MDH1_chr2_63821622_length(amino acids)=418AA_start in transcript=476_stop in transcript=1732
MSRFVQDLSKAMSQDGASQFQEVIRQELELSVKKELEKILTTASSHEFEHTKKDLDGFRKLFHRFLQEKGPSVDWGKIQRPPEDSSEPIR
VLVTGAAGQIAYSLLYSIGNGSVFGKDQPIILVLLDITPMMGVLDGVLMELQDCALPLLKDVIATDKEDVAFKDLDVAILVGSMPRREGM
ERKDLLKANVKIFKSQGAALDKYAKKSVKVIVVGNPANTNCLTASKSAPSIPKENFSCLTRLDHNRAKAQIALKLGVTANDVKNVIIWGN
HSSTQYPDVNHAKVKLQGKEVGVYEALKDDSWLKGEFVTTVQQRGAAVIKARKLSSAMSAAKAICDHVRDIWFGTPEGEFVSMGVISDGN

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>In-frame_ENST00000445915_ENST00000233114_TCGA-BC-A10T-01A_UGP2_chr2_64085070_+_MDH1_chr2_63821622_length(transcript)=1561nt_BP=349nt
CTTTTCGTTGAATTGTCATCTGAGCTGCCTTGAGCTGCTGGGTTGACGTTCCAGACGCGTATAATTTATGCTCCTGTACCCTGCTGGGTT
TAGTTTTGCCTCCCTGAAATCAGATCTTAGCAAAGCAATGTCTCAAGATGGTGCTTCTCAGTTCCAAGAAGTCATTCGGCAAGAGCTAGA
ATTATCTGTGAAGAAGGAACTAGAAAAAATACTCACCACAGCATCATCACATGAATTTGAGCACACCAAAAAAGACCTGGATGGATTTCG
GAAGCTATTTCATAGATTTTTGCAAGAAAAGGGGCCTTCTGTGGATTGGGGAAAAATCCAGAGACCCCCTGAAGATTCGTCTGAACCAAT
CAGAGTCCTTGTGACTGGAGCAGCTGGTCAAATTGCATATTCACTGCTGTACAGTATTGGAAATGGATCTGTCTTTGGTAAAGATCAGCC
TATAATTCTTGTGCTGTTGGATATCACCCCCATGATGGGTGTCCTGGACGGTGTCCTAATGGAACTGCAAGACTGTGCCCTTCCCCTCCT
GAAAGATGTCATCGCAACAGATAAAGAAGACGTTGCCTTCAAAGACCTGGATGTGGCCATTCTTGTGGGCTCCATGCCAAGAAGGGAAGG
CATGGAGAGAAAAGATTTACTGAAAGCAAATGTGAAAATCTTCAAATCCCAGGGTGCAGCCTTAGATAAATACGCCAAGAAGTCAGTTAA
GGTTATTGTTGTGGGTAATCCAGCCAATACCAACTGCCTGACTGCTTCCAAGTCAGCTCCATCCATCCCCAAGGAGAACTTCAGTTGCTT
GACTCGTTTGGATCACAACCGAGCTAAAGCTCAAATTGCTCTTAAACTTGGTGTGACTGCTAATGATGTAAAGAATGTCATTATCTGGGG
AAACCATTCCTCGACTCAGTATCCAGATGTCAACCATGCCAAGGTGAAATTGCAAGGAAAGGAAGTTGGTGTTTATGAAGCTCTGAAAGA
TGACAGCTGGCTCAAGGGAGAATTTGTCACGACTGTGCAGCAGCGTGGCGCTGCTGTCATCAAGGCTCGAAAACTATCCAGTGCCATGTC
TGCTGCAAAAGCCATCTGTGACCACGTCAGGGACATCTGGTTTGGAACCCCAGAGGGAGAGTTTGTGTCCATGGGTGTTATCTCTGATGG
CAACTCCTATGGTGTTCCTGATGATCTGCTCTACTCATTCCCTGTTGTAATCAAGAATAAGACCTGGAAGTTTGTTGAAGGTCTCCCTAT
TAATGATTTCTCACGTGAGAAGATGGATCTTACTGCAAAGGAACTGACAGAAGAAAAAGAAAGTGCTTTTGAATTTCTTTCCTCTGCCTG
ACTAGACAATGATGTTACTAAATGCTTCAAAGCTGAAGAATCTAAATGTCGTCTTTGACTCAAGTACCAAATAATAATAATGCTATACTT
AAATTACTTGTGAAAAACAACACATTTTAAAGATTACGTGCTTCTTGGTACAGGTTTGTGAATGACAGTTTATCGTCATGCTGTTAGTGT

>In-frame_ENST00000445915_ENST00000233114_TCGA-BC-A10T-01A_UGP2_chr2_64085070_+_MDH1_chr2_63821622_length(amino acids)=427AA_start in transcript=67_stop in transcript=1350
MLLYPAGFSFASLKSDLSKAMSQDGASQFQEVIRQELELSVKKELEKILTTASSHEFEHTKKDLDGFRKLFHRFLQEKGPSVDWGKIQRP
PEDSSEPIRVLVTGAAGQIAYSLLYSIGNGSVFGKDQPIILVLLDITPMMGVLDGVLMELQDCALPLLKDVIATDKEDVAFKDLDVAILV
GSMPRREGMERKDLLKANVKIFKSQGAALDKYAKKSVKVIVVGNPANTNCLTASKSAPSIPKENFSCLTRLDHNRAKAQIALKLGVTAND
VKNVIIWGNHSSTQYPDVNHAKVKLQGKEVGVYEALKDDSWLKGEFVTTVQQRGAAVIKARKLSSAMSAAKAICDHVRDIWFGTPEGEFV

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Fusion Gene PPI Analysis for UGP2-MDH1


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 UGP2-MDH1


check button Drugs targeting genes involved in this fusion gene.
(DrugBank Version 5.1.8 2021-05-08)
PartnerGeneUniProtAccDrugBank IDDrug nameDrug activityDrug typeDrug status
TgeneMDH1P40925DB00157NADHSmall moleculeApproved|Nutraceutical
TgeneMDH1P40925DB00157NADHSmall moleculeApproved|Nutraceutical

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Related Diseases for UGP2-MDH1


check button Diseases associated with fusion partners.
(DisGeNet 4.0)
PartnerGeneDisease IDDisease name# pubmedsSource
HgeneUGP2C0036572Seizures1GENOMICS_ENGLAND
HgeneUGP2C0232466Feeding difficulties1GENOMICS_ENGLAND
HgeneUGP2C0557874Global developmental delay1GENOMICS_ENGLAND
HgeneUGP2C3714756Intellectual Disability1GENOMICS_ENGLAND
HgeneUGP2C4025846Abnormality of vision1GENOMICS_ENGLAND
HgeneUGP2C4025871Abnormality of the face1GENOMICS_ENGLAND
TgeneMDH1C0019193Hepatitis, Toxic1CTD_human
TgeneMDH1C0020538Hypertensive disease1CTD_human
TgeneMDH1C0023893Liver Cirrhosis, Experimental1CTD_human
TgeneMDH1C0035222Respiratory Distress Syndrome, Adult1CTD_human
TgeneMDH1C0036341Schizophrenia1PSYGENET
TgeneMDH1C0860207Drug-Induced Liver Disease1CTD_human
TgeneMDH1C1262760Hepatitis, Drug-Induced1CTD_human
TgeneMDH1C3658290Drug-Induced Acute Liver Injury1CTD_human
TgeneMDH1C4277682Chemical and Drug Induced Liver Injury1CTD_human
TgeneMDH1C4279912Chemically-Induced Liver Toxicity1CTD_human