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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: 20568

FusionGeneSummary for MAGED2_MDH1

check button Fusion gene summary
Fusion gene informationFusion gene name: MAGED2_MDH1
Fusion gene ID: 20568
HgeneTgene
Gene symbol

MAGED2

MDH1

Gene ID

10916

4190

Gene nameMAGE family member D2malate dehydrogenase 1
Synonyms11B6|BARTS5|BCG-1|BCG1|HCA10|MAGE-D2HEL-S-32|MDH-s|MDHA|MGC:1375|MOR2
Cytomap

Xp11.21

2p15

Type of geneprotein-codingprotein-coding
Descriptionmelanoma-associated antigen D2MAGE-D2 antigenbreast cancer-associated gene 1 proteinhepatocellular carcinoma-associated protein JCL-1melanoma antigen family D, 2melanoma antigen family D2malate dehydrogenase, cytoplasmicmalate dehydrogenase, peroxisomalcytosolic malate dehydrogenasediiodophenylpyruvate reductaseepididymis secretory protein Li 32malate dehydrogenase 1, NAD (soluble)soluble malate dehydrogenase
Modification date2018051920180523
UniProtAcc

Q9UNF1

P40925

Ensembl transtripts involved in fusion geneENST00000375068, ENST00000375053, 
ENST00000347546, ENST00000375062, 
ENST00000218439, ENST00000375058, 
ENST00000375060, ENST00000396224, 
ENST00000497484, 		ENST00000233114, 
ENST00000409908, ENST00000409476, 
ENST00000539945, ENST00000544381, 
ENST00000394423, ENST00000462944, 
Fusion gene scores* DoF score5 X 4 X 3=606 X 6 X 4=144
# samples 514
** MAII scorelog2(5/60*10)=-0.263034405833794
possibly effective Gene in Pan-Cancer Fusion Genes (peGinPCFGs).
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: MAGED2 [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
ChiTaRS3.1AA092172MAGED2chrX

54837913

+MDH1chr2

63831921

+
* 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-3CDSENST00000375068ENST00000233114MAGED2chrX

54837913

+MDH1chr2

63831921

+
intron-3CDSENST00000375068ENST00000409908MAGED2chrX

54837913

+MDH1chr2

63831921

+
intron-3CDSENST00000375068ENST00000409476MAGED2chrX

54837913

+MDH1chr2

63831921

+
intron-3CDSENST00000375068ENST00000539945MAGED2chrX

54837913

+MDH1chr2

63831921

+
intron-3CDSENST00000375068ENST00000544381MAGED2chrX

54837913

+MDH1chr2

63831921

+
intron-3CDSENST00000375068ENST00000394423MAGED2chrX

54837913

+MDH1chr2

63831921

+
intron-intronENST00000375068ENST00000462944MAGED2chrX

54837913

+MDH1chr2

63831921

+
intron-3CDSENST00000375053ENST00000233114MAGED2chrX

54837913

+MDH1chr2

63831921

+
intron-3CDSENST00000375053ENST00000409908MAGED2chrX

54837913

+MDH1chr2

63831921

+
intron-3CDSENST00000375053ENST00000409476MAGED2chrX

54837913

+MDH1chr2

63831921

+
intron-3CDSENST00000375053ENST00000539945MAGED2chrX

54837913

+MDH1chr2

63831921

+
intron-3CDSENST00000375053ENST00000544381MAGED2chrX

54837913

+MDH1chr2

63831921

+
intron-3CDSENST00000375053ENST00000394423MAGED2chrX

54837913

+MDH1chr2

63831921

+
intron-intronENST00000375053ENST00000462944MAGED2chrX

54837913

+MDH1chr2

63831921

+
intron-3CDSENST00000347546ENST00000233114MAGED2chrX

54837913

+MDH1chr2

63831921

+
intron-3CDSENST00000347546ENST00000409908MAGED2chrX

54837913

+MDH1chr2

63831921

+
intron-3CDSENST00000347546ENST00000409476MAGED2chrX

54837913

+MDH1chr2

63831921

+
intron-3CDSENST00000347546ENST00000539945MAGED2chrX

54837913

+MDH1chr2

63831921

+
intron-3CDSENST00000347546ENST00000544381MAGED2chrX

54837913

+MDH1chr2

63831921

+
intron-3CDSENST00000347546ENST00000394423MAGED2chrX

54837913

+MDH1chr2

63831921

+
intron-intronENST00000347546ENST00000462944MAGED2chrX

54837913

+MDH1chr2

63831921

+
intron-3CDSENST00000375062ENST00000233114MAGED2chrX

54837913

+MDH1chr2

63831921

+
intron-3CDSENST00000375062ENST00000409908MAGED2chrX

54837913

+MDH1chr2

63831921

+
intron-3CDSENST00000375062ENST00000409476MAGED2chrX

54837913

+MDH1chr2

63831921

+
intron-3CDSENST00000375062ENST00000539945MAGED2chrX

54837913

+MDH1chr2

63831921

+
intron-3CDSENST00000375062ENST00000544381MAGED2chrX

54837913

+MDH1chr2

63831921

+
intron-3CDSENST00000375062ENST00000394423MAGED2chrX

54837913

+MDH1chr2

63831921

+
intron-intronENST00000375062ENST00000462944MAGED2chrX

54837913

+MDH1chr2

63831921

+
intron-3CDSENST00000218439ENST00000233114MAGED2chrX

54837913

+MDH1chr2

63831921

+
intron-3CDSENST00000218439ENST00000409908MAGED2chrX

54837913

+MDH1chr2

63831921

+
intron-3CDSENST00000218439ENST00000409476MAGED2chrX

54837913

+MDH1chr2

63831921

+
intron-3CDSENST00000218439ENST00000539945MAGED2chrX

54837913

+MDH1chr2

63831921

+
intron-3CDSENST00000218439ENST00000544381MAGED2chrX

54837913

+MDH1chr2

63831921

+
intron-3CDSENST00000218439ENST00000394423MAGED2chrX

54837913

+MDH1chr2

63831921

+
intron-intronENST00000218439ENST00000462944MAGED2chrX

54837913

+MDH1chr2

63831921

+
intron-3CDSENST00000375058ENST00000233114MAGED2chrX

54837913

+MDH1chr2

63831921

+
intron-3CDSENST00000375058ENST00000409908MAGED2chrX

54837913

+MDH1chr2

63831921

+
intron-3CDSENST00000375058ENST00000409476MAGED2chrX

54837913

+MDH1chr2

63831921

+
intron-3CDSENST00000375058ENST00000539945MAGED2chrX

54837913

+MDH1chr2

63831921

+
intron-3CDSENST00000375058ENST00000544381MAGED2chrX

54837913

+MDH1chr2

63831921

+
intron-3CDSENST00000375058ENST00000394423MAGED2chrX

54837913

+MDH1chr2

63831921

+
intron-intronENST00000375058ENST00000462944MAGED2chrX

54837913

+MDH1chr2

63831921

+
intron-3CDSENST00000375060ENST00000233114MAGED2chrX

54837913

+MDH1chr2

63831921

+
intron-3CDSENST00000375060ENST00000409908MAGED2chrX

54837913

+MDH1chr2

63831921

+
intron-3CDSENST00000375060ENST00000409476MAGED2chrX

54837913

+MDH1chr2

63831921

+
intron-3CDSENST00000375060ENST00000539945MAGED2chrX

54837913

+MDH1chr2

63831921

+
intron-3CDSENST00000375060ENST00000544381MAGED2chrX

54837913

+MDH1chr2

63831921

+
intron-3CDSENST00000375060ENST00000394423MAGED2chrX

54837913

+MDH1chr2

63831921

+
intron-intronENST00000375060ENST00000462944MAGED2chrX

54837913

+MDH1chr2

63831921

+
intron-3CDSENST00000396224ENST00000233114MAGED2chrX

54837913

+MDH1chr2

63831921

+
intron-3CDSENST00000396224ENST00000409908MAGED2chrX

54837913

+MDH1chr2

63831921

+
intron-3CDSENST00000396224ENST00000409476MAGED2chrX

54837913

+MDH1chr2

63831921

+
intron-3CDSENST00000396224ENST00000539945MAGED2chrX

54837913

+MDH1chr2

63831921

+
intron-3CDSENST00000396224ENST00000544381MAGED2chrX

54837913

+MDH1chr2

63831921

+
intron-3CDSENST00000396224ENST00000394423MAGED2chrX

54837913

+MDH1chr2

63831921

+
intron-intronENST00000396224ENST00000462944MAGED2chrX

54837913

+MDH1chr2

63831921

+
intron-3CDSENST00000497484ENST00000233114MAGED2chrX

54837913

+MDH1chr2

63831921

+
intron-3CDSENST00000497484ENST00000409908MAGED2chrX

54837913

+MDH1chr2

63831921

+
intron-3CDSENST00000497484ENST00000409476MAGED2chrX

54837913

+MDH1chr2

63831921

+
intron-3CDSENST00000497484ENST00000539945MAGED2chrX

54837913

+MDH1chr2

63831921

+
intron-3CDSENST00000497484ENST00000544381MAGED2chrX

54837913

+MDH1chr2

63831921

+
intron-3CDSENST00000497484ENST00000394423MAGED2chrX

54837913

+MDH1chr2

63831921

+
intron-intronENST00000497484ENST00000462944MAGED2chrX

54837913

+MDH1chr2

63831921

+

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FusionProtFeatures for MAGED2_MDH1


check buttonMain function of each fusion partner protein. (from UniProt)
HgeneTgene
MAGED2

Q9UNF1

MDH1

P40925

Regulates the expression, localization to the plasmamembrane and function of the sodium chloride cotransportersSLC12A1 and SLC12A3, two key components of salt reabsorption inthe distal renal tubule. {ECO:0000269|PubMed:27120771}.

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 MAGED2_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 MAGED2_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


Top

RelatedDrugs for MAGED2_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
TgeneMDH1P40925DB11638ArtenimolMalate dehydrogenase, cytoplasmicsmall moleculeapproved|investigational

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RelatedDiseases for MAGED2_MDH1


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