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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: 21358

FusionGeneSummary for MDH1_MDH1

check button Fusion gene summary
Fusion gene informationFusion gene name: MDH1_MDH1
Fusion gene ID: 21358
HgeneTgene
Gene symbol

MDH1

MDH1

Gene ID

4190

4190

Gene namemalate dehydrogenase 1malate dehydrogenase 1
SynonymsHEL-S-32|MDH-s|MDHA|MGC:1375|MOR2HEL-S-32|MDH-s|MDHA|MGC:1375|MOR2
Cytomap

2p15

2p15

Type of geneprotein-codingprotein-coding
Descriptionmalate dehydrogenase, cytoplasmicmalate dehydrogenase, peroxisomalcytosolic malate dehydrogenasediiodophenylpyruvate reductaseepididymis secretory protein Li 32malate dehydrogenase 1, NAD (soluble)soluble malate dehydrogenasemalate dehydrogenase, cytoplasmicmalate dehydrogenase, peroxisomalcytosolic malate dehydrogenasediiodophenylpyruvate reductaseepididymis secretory protein Li 32malate dehydrogenase 1, NAD (soluble)soluble malate dehydrogenase
Modification date2018052320180523
UniProtAcc

P40925

P40925

Ensembl transtripts involved in fusion geneENST00000233114, ENST00000409908, 
ENST00000409476, ENST00000539945, 
ENST00000544381, ENST00000394423, 
ENST00000462944, 
ENST00000233114, 
ENST00000409908, ENST00000409476, 
ENST00000539945, ENST00000544381, 
ENST00000394423, ENST00000462944, 
Fusion gene scores* DoF score4 X 4 X 2=326 X 6 X 4=144
# samples 414
** MAII scorelog2(4/32*10)=0.321928094887362
effective Gene in Pan-Cancer Fusion Genes (eGinPCFGs).
DoF>8 and MAII>0
log2(14/144*10)=-0.0406419844973459
possibly effective Gene in Pan-Cancer Fusion Genes (peGinPCFGs).
DoF>8 and MAII<0
Context

PubMed: MDH1 [Title/Abstract] AND MDH1 [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
ChiTaRS3.1BG290076MDH1chr2

63833146

+MDH1chr2

63831899

+
* 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
In-frameENST00000233114ENST00000233114MDH1chr2

63833146

+MDH1chr2

63831899

+
In-frameENST00000233114ENST00000409908MDH1chr2

63833146

+MDH1chr2

63831899

+
In-frameENST00000233114ENST00000409476MDH1chr2

63833146

+MDH1chr2

63831899

+
In-frameENST00000233114ENST00000539945MDH1chr2

63833146

+MDH1chr2

63831899

+
In-frameENST00000233114ENST00000544381MDH1chr2

63833146

+MDH1chr2

63831899

+
In-frameENST00000233114ENST00000394423MDH1chr2

63833146

+MDH1chr2

63831899

+
5CDS-intronENST00000233114ENST00000462944MDH1chr2

63833146

+MDH1chr2

63831899

+
In-frameENST00000409908ENST00000233114MDH1chr2

63833146

+MDH1chr2

63831899

+
In-frameENST00000409908ENST00000409908MDH1chr2

63833146

+MDH1chr2

63831899

+
In-frameENST00000409908ENST00000409476MDH1chr2

63833146

+MDH1chr2

63831899

+
In-frameENST00000409908ENST00000539945MDH1chr2

63833146

+MDH1chr2

63831899

+
In-frameENST00000409908ENST00000544381MDH1chr2

63833146

+MDH1chr2

63831899

+
In-frameENST00000409908ENST00000394423MDH1chr2

63833146

+MDH1chr2

63831899

+
5CDS-intronENST00000409908ENST00000462944MDH1chr2

63833146

+MDH1chr2

63831899

+
In-frameENST00000409476ENST00000233114MDH1chr2

63833146

+MDH1chr2

63831899

+
In-frameENST00000409476ENST00000409908MDH1chr2

63833146

+MDH1chr2

63831899

+
In-frameENST00000409476ENST00000409476MDH1chr2

63833146

+MDH1chr2

63831899

+
In-frameENST00000409476ENST00000539945MDH1chr2

63833146

+MDH1chr2

63831899

+
In-frameENST00000409476ENST00000544381MDH1chr2

63833146

+MDH1chr2

63831899

+
In-frameENST00000409476ENST00000394423MDH1chr2

63833146

+MDH1chr2

63831899

+
5CDS-intronENST00000409476ENST00000462944MDH1chr2

63833146

+MDH1chr2

63831899

+
In-frameENST00000539945ENST00000233114MDH1chr2

63833146

+MDH1chr2

63831899

+
In-frameENST00000539945ENST00000409908MDH1chr2

63833146

+MDH1chr2

63831899

+
In-frameENST00000539945ENST00000409476MDH1chr2

63833146

+MDH1chr2

63831899

+
In-frameENST00000539945ENST00000539945MDH1chr2

63833146

+MDH1chr2

63831899

+
In-frameENST00000539945ENST00000544381MDH1chr2

63833146

+MDH1chr2

63831899

+
In-frameENST00000539945ENST00000394423MDH1chr2

63833146

+MDH1chr2

63831899

+
5CDS-intronENST00000539945ENST00000462944MDH1chr2

63833146

+MDH1chr2

63831899

+
In-frameENST00000544381ENST00000233114MDH1chr2

63833146

+MDH1chr2

63831899

+
In-frameENST00000544381ENST00000409908MDH1chr2

63833146

+MDH1chr2

63831899

+
In-frameENST00000544381ENST00000409476MDH1chr2

63833146

+MDH1chr2

63831899

+
In-frameENST00000544381ENST00000539945MDH1chr2

63833146

+MDH1chr2

63831899

+
In-frameENST00000544381ENST00000544381MDH1chr2

63833146

+MDH1chr2

63831899

+
In-frameENST00000544381ENST00000394423MDH1chr2

63833146

+MDH1chr2

63831899

+
5CDS-intronENST00000544381ENST00000462944MDH1chr2

63833146

+MDH1chr2

63831899

+
In-frameENST00000394423ENST00000233114MDH1chr2

63833146

+MDH1chr2

63831899

+
In-frameENST00000394423ENST00000409908MDH1chr2

63833146

+MDH1chr2

63831899

+
In-frameENST00000394423ENST00000409476MDH1chr2

63833146

+MDH1chr2

63831899

+
In-frameENST00000394423ENST00000539945MDH1chr2

63833146

+MDH1chr2

63831899

+
In-frameENST00000394423ENST00000544381MDH1chr2

63833146

+MDH1chr2

63831899

+
In-frameENST00000394423ENST00000394423MDH1chr2

63833146

+MDH1chr2

63831899

+
5CDS-intronENST00000394423ENST00000462944MDH1chr2

63833146

+MDH1chr2

63831899

+
intron-3CDSENST00000462944ENST00000233114MDH1chr2

63833146

+MDH1chr2

63831899

+
intron-3CDSENST00000462944ENST00000409908MDH1chr2

63833146

+MDH1chr2

63831899

+
intron-3CDSENST00000462944ENST00000409476MDH1chr2

63833146

+MDH1chr2

63831899

+
intron-3CDSENST00000462944ENST00000539945MDH1chr2

63833146

+MDH1chr2

63831899

+
intron-3CDSENST00000462944ENST00000544381MDH1chr2

63833146

+MDH1chr2

63831899

+
intron-3CDSENST00000462944ENST00000394423MDH1chr2

63833146

+MDH1chr2

63831899

+
intron-intronENST00000462944ENST00000462944MDH1chr2

63833146

+MDH1chr2

63831899

+

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FusionProtFeatures for MDH1_MDH1


check buttonMain function of each fusion partner protein. (from UniProt)
HgeneTgene
MDH1

P40925

MDH1

P40925


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
TgeneMDH1chr2:63833146chr2:63831899ENST00000233114+0911_17-145335Nucleotide bindingNAD
TgeneMDH1chr2:63833146chr2:63831899ENST00000233114+09129_131-145335Nucleotide bindingNAD
TgeneMDH1chr2:63833146chr2:63831899ENST00000394423+0911_170335Nucleotide bindingNAD
TgeneMDH1chr2:63833146chr2:63831899ENST00000394423+09129_1310335Nucleotide bindingNAD
TgeneMDH1chr2:63833146chr2:63831899ENST00000539945+0911_17-32353Nucleotide bindingNAD
TgeneMDH1chr2:63833146chr2:63831899ENST00000539945+09129_131-32353Nucleotide bindingNAD
TgeneMDH1chr2:63833146chr2:63831899ENST00000544381+0811_17-76246Nucleotide bindingNAD
TgeneMDH1chr2:63833146chr2:63831899ENST00000544381+08129_131-76246Nucleotide bindingNAD

- 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 MDH1_MDH1


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 MDH1_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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RelatedDrugs for MDH1_MDH1


check button Drugs targeting genes involved in this fusion gene.
(DrugBank Version 5.1.0 2018-04-02)
PartnerGeneUniProtAccDrugBank IDDrug nameDrug activityDrug typeDrug status
HgeneMDH1P40925DB11638ArtenimolMalate dehydrogenase, cytoplasmicsmall moleculeapproved|investigational
TgeneMDH1P40925DB11638ArtenimolMalate dehydrogenase, cytoplasmicsmall moleculeapproved|investigational

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RelatedDiseases for MDH1_MDH1


check button Diseases associated with fusion partners.
(DisGeNet 4.0)
PartnerGeneDisease IDDisease name# pubmedsSource
HgeneMDH1C0020538Hypertensive disease1CTD_human
HgeneMDH1C0023893Liver Cirrhosis, Experimental1CTD_human
HgeneMDH1C0035222Respiratory Distress Syndrome, Adult1CTD_human
HgeneMDH1C0036341Schizophrenia1PSYGENET
HgeneMDH1C4277682Chemical and Drug Induced Liver Injury1CTD_human
TgeneMDH1C0020538Hypertensive disease1CTD_human
TgeneMDH1C0023893Liver Cirrhosis, Experimental1CTD_human
TgeneMDH1C0035222Respiratory Distress Syndrome, Adult1CTD_human
TgeneMDH1C0036341Schizophrenia1PSYGENET
TgeneMDH1C4277682Chemical and Drug Induced Liver Injury1CTD_human