FusionGDB Logo

Home

Download

Statistics

Examples

Help

Contact

Center for Computational Systems Medicine
leaf

FusionGeneSummary

leaf

FusionProtFeature

leaf

FusionGeneSequence

leaf

FusionGenePPI

leaf

RelatedDrugs

leaf

RelatedDiseases

Fusion gene ID: 21357

FusionGeneSummary for MDH1_LRTOMT

check button Fusion gene summary
Fusion gene informationFusion gene name: MDH1_LRTOMT
Fusion gene ID: 21357
HgeneTgene
Gene symbol

MDH1

LRTOMT

Gene ID

4190

220074

Gene namemalate dehydrogenase 1leucine rich transmembrane and O-methyltransferase domain containing
SynonymsHEL-S-32|MDH-s|MDHA|MGC:1375|MOR2CFAP111|DFNB63|LRRC51
Cytomap

2p15

11q13.4

Type of geneprotein-codingprotein-coding
Descriptionmalate dehydrogenase, cytoplasmicmalate dehydrogenase, peroxisomalcytosolic malate dehydrogenasediiodophenylpyruvate reductaseepididymis secretory protein Li 32malate dehydrogenase 1, NAD (soluble)soluble malate dehydrogenasetransmembrane O-methyltransferaseleucine-rich repeat-containing protein 51leucine rich transmembrane and 0-methyltransferase domain containing
Modification date2018052320180523
UniProtAcc

P40925

Q96E66

Ensembl transtripts involved in fusion geneENST00000233114, ENST00000409908, 
ENST00000409476, ENST00000539945, 
ENST00000544381, ENST00000394423, 
ENST00000462944, 
ENST00000435085, 
ENST00000307198, ENST00000419228, 
ENST00000447974, ENST00000289488, 
ENST00000539271, ENST00000423494, 
ENST00000539587, ENST00000538478, 
ENST00000324866, ENST00000439209, 
ENST00000541614, ENST00000536917, 
ENST00000440313, 
Fusion gene scores* DoF score4 X 4 X 2=324 X 5 X 3=60
# samples 45
** MAII scorelog2(4/32*10)=0.321928094887362
effective Gene in Pan-Cancer Fusion Genes (eGinPCFGs).
DoF>8 and MAII>0
log2(5/60*10)=-0.263034405833794
possibly effective Gene in Pan-Cancer Fusion Genes (peGinPCFGs).
DoF>8 and MAII<0
Context

PubMed: MDH1 [Title/Abstract] AND LRTOMT [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
ChiTaRS3.1BE709622MDH1chr2

63831845

-LRTOMTchr11

71796626

-
* 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
5CDS-intronENST00000233114ENST00000435085MDH1chr2

63831845

-LRTOMTchr11

71796626

-
5CDS-intronENST00000233114ENST00000307198MDH1chr2

63831845

-LRTOMTchr11

71796626

-
5CDS-intronENST00000233114ENST00000419228MDH1chr2

63831845

-LRTOMTchr11

71796626

-
5CDS-intronENST00000233114ENST00000447974MDH1chr2

63831845

-LRTOMTchr11

71796626

-
5CDS-intronENST00000233114ENST00000289488MDH1chr2

63831845

-LRTOMTchr11

71796626

-
5CDS-intronENST00000233114ENST00000539271MDH1chr2

63831845

-LRTOMTchr11

71796626

-
5CDS-intronENST00000233114ENST00000423494MDH1chr2

63831845

-LRTOMTchr11

71796626

-
5CDS-intronENST00000233114ENST00000539587MDH1chr2

63831845

-LRTOMTchr11

71796626

-
5CDS-intronENST00000233114ENST00000538478MDH1chr2

63831845

-LRTOMTchr11

71796626

-
5CDS-intronENST00000233114ENST00000324866MDH1chr2

63831845

-LRTOMTchr11

71796626

-
5CDS-intronENST00000233114ENST00000439209MDH1chr2

63831845

-LRTOMTchr11

71796626

-
5CDS-intronENST00000233114ENST00000541614MDH1chr2

63831845

-LRTOMTchr11

71796626

-
5CDS-intronENST00000233114ENST00000536917MDH1chr2

63831845

-LRTOMTchr11

71796626

-
5CDS-intronENST00000233114ENST00000440313MDH1chr2

63831845

-LRTOMTchr11

71796626

-
5CDS-intronENST00000409908ENST00000435085MDH1chr2

63831845

-LRTOMTchr11

71796626

-
5CDS-intronENST00000409908ENST00000307198MDH1chr2

63831845

-LRTOMTchr11

71796626

-
5CDS-intronENST00000409908ENST00000419228MDH1chr2

63831845

-LRTOMTchr11

71796626

-
5CDS-intronENST00000409908ENST00000447974MDH1chr2

63831845

-LRTOMTchr11

71796626

-
5CDS-intronENST00000409908ENST00000289488MDH1chr2

63831845

-LRTOMTchr11

71796626

-
5CDS-intronENST00000409908ENST00000539271MDH1chr2

63831845

-LRTOMTchr11

71796626

-
5CDS-intronENST00000409908ENST00000423494MDH1chr2

63831845

-LRTOMTchr11

71796626

-
5CDS-intronENST00000409908ENST00000539587MDH1chr2

63831845

-LRTOMTchr11

71796626

-
5CDS-intronENST00000409908ENST00000538478MDH1chr2

63831845

-LRTOMTchr11

71796626

-
5CDS-intronENST00000409908ENST00000324866MDH1chr2

63831845

-LRTOMTchr11

71796626

-
5CDS-intronENST00000409908ENST00000439209MDH1chr2

63831845

-LRTOMTchr11

71796626

-
5CDS-intronENST00000409908ENST00000541614MDH1chr2

63831845

-LRTOMTchr11

71796626

-
5CDS-intronENST00000409908ENST00000536917MDH1chr2

63831845

-LRTOMTchr11

71796626

-
5CDS-intronENST00000409908ENST00000440313MDH1chr2

63831845

-LRTOMTchr11

71796626

-
5CDS-intronENST00000409476ENST00000435085MDH1chr2

63831845

-LRTOMTchr11

71796626

-
5CDS-intronENST00000409476ENST00000307198MDH1chr2

63831845

-LRTOMTchr11

71796626

-
5CDS-intronENST00000409476ENST00000419228MDH1chr2

63831845

-LRTOMTchr11

71796626

-
5CDS-intronENST00000409476ENST00000447974MDH1chr2

63831845

-LRTOMTchr11

71796626

-
5CDS-intronENST00000409476ENST00000289488MDH1chr2

63831845

-LRTOMTchr11

71796626

-
5CDS-intronENST00000409476ENST00000539271MDH1chr2

63831845

-LRTOMTchr11

71796626

-
5CDS-intronENST00000409476ENST00000423494MDH1chr2

63831845

-LRTOMTchr11

71796626

-
5CDS-intronENST00000409476ENST00000539587MDH1chr2

63831845

-LRTOMTchr11

71796626

-
5CDS-intronENST00000409476ENST00000538478MDH1chr2

63831845

-LRTOMTchr11

71796626

-
5CDS-intronENST00000409476ENST00000324866MDH1chr2

63831845

-LRTOMTchr11

71796626

-
5CDS-intronENST00000409476ENST00000439209MDH1chr2

63831845

-LRTOMTchr11

71796626

-
5CDS-intronENST00000409476ENST00000541614MDH1chr2

63831845

-LRTOMTchr11

71796626

-
5CDS-intronENST00000409476ENST00000536917MDH1chr2

63831845

-LRTOMTchr11

71796626

-
5CDS-intronENST00000409476ENST00000440313MDH1chr2

63831845

-LRTOMTchr11

71796626

-
5CDS-intronENST00000539945ENST00000435085MDH1chr2

63831845

-LRTOMTchr11

71796626

-
5CDS-intronENST00000539945ENST00000307198MDH1chr2

63831845

-LRTOMTchr11

71796626

-
5CDS-intronENST00000539945ENST00000419228MDH1chr2

63831845

-LRTOMTchr11

71796626

-
5CDS-intronENST00000539945ENST00000447974MDH1chr2

63831845

-LRTOMTchr11

71796626

-
5CDS-intronENST00000539945ENST00000289488MDH1chr2

63831845

-LRTOMTchr11

71796626

-
5CDS-intronENST00000539945ENST00000539271MDH1chr2

63831845

-LRTOMTchr11

71796626

-
5CDS-intronENST00000539945ENST00000423494MDH1chr2

63831845

-LRTOMTchr11

71796626

-
5CDS-intronENST00000539945ENST00000539587MDH1chr2

63831845

-LRTOMTchr11

71796626

-
5CDS-intronENST00000539945ENST00000538478MDH1chr2

63831845

-LRTOMTchr11

71796626

-
5CDS-intronENST00000539945ENST00000324866MDH1chr2

63831845

-LRTOMTchr11

71796626

-
5CDS-intronENST00000539945ENST00000439209MDH1chr2

63831845

-LRTOMTchr11

71796626

-
5CDS-intronENST00000539945ENST00000541614MDH1chr2

63831845

-LRTOMTchr11

71796626

-
5CDS-intronENST00000539945ENST00000536917MDH1chr2

63831845

-LRTOMTchr11

71796626

-
5CDS-intronENST00000539945ENST00000440313MDH1chr2

63831845

-LRTOMTchr11

71796626

-
5CDS-intronENST00000544381ENST00000435085MDH1chr2

63831845

-LRTOMTchr11

71796626

-
5CDS-intronENST00000544381ENST00000307198MDH1chr2

63831845

-LRTOMTchr11

71796626

-
5CDS-intronENST00000544381ENST00000419228MDH1chr2

63831845

-LRTOMTchr11

71796626

-
5CDS-intronENST00000544381ENST00000447974MDH1chr2

63831845

-LRTOMTchr11

71796626

-
5CDS-intronENST00000544381ENST00000289488MDH1chr2

63831845

-LRTOMTchr11

71796626

-
5CDS-intronENST00000544381ENST00000539271MDH1chr2

63831845

-LRTOMTchr11

71796626

-
5CDS-intronENST00000544381ENST00000423494MDH1chr2

63831845

-LRTOMTchr11

71796626

-
5CDS-intronENST00000544381ENST00000539587MDH1chr2

63831845

-LRTOMTchr11

71796626

-
5CDS-intronENST00000544381ENST00000538478MDH1chr2

63831845

-LRTOMTchr11

71796626

-
5CDS-intronENST00000544381ENST00000324866MDH1chr2

63831845

-LRTOMTchr11

71796626

-
5CDS-intronENST00000544381ENST00000439209MDH1chr2

63831845

-LRTOMTchr11

71796626

-
5CDS-intronENST00000544381ENST00000541614MDH1chr2

63831845

-LRTOMTchr11

71796626

-
5CDS-intronENST00000544381ENST00000536917MDH1chr2

63831845

-LRTOMTchr11

71796626

-
5CDS-intronENST00000544381ENST00000440313MDH1chr2

63831845

-LRTOMTchr11

71796626

-
5CDS-intronENST00000394423ENST00000435085MDH1chr2

63831845

-LRTOMTchr11

71796626

-
5CDS-intronENST00000394423ENST00000307198MDH1chr2

63831845

-LRTOMTchr11

71796626

-
5CDS-intronENST00000394423ENST00000419228MDH1chr2

63831845

-LRTOMTchr11

71796626

-
5CDS-intronENST00000394423ENST00000447974MDH1chr2

63831845

-LRTOMTchr11

71796626

-
5CDS-intronENST00000394423ENST00000289488MDH1chr2

63831845

-LRTOMTchr11

71796626

-
5CDS-intronENST00000394423ENST00000539271MDH1chr2

63831845

-LRTOMTchr11

71796626

-
5CDS-intronENST00000394423ENST00000423494MDH1chr2

63831845

-LRTOMTchr11

71796626

-
5CDS-intronENST00000394423ENST00000539587MDH1chr2

63831845

-LRTOMTchr11

71796626

-
5CDS-intronENST00000394423ENST00000538478MDH1chr2

63831845

-LRTOMTchr11

71796626

-
5CDS-intronENST00000394423ENST00000324866MDH1chr2

63831845

-LRTOMTchr11

71796626

-
5CDS-intronENST00000394423ENST00000439209MDH1chr2

63831845

-LRTOMTchr11

71796626

-
5CDS-intronENST00000394423ENST00000541614MDH1chr2

63831845

-LRTOMTchr11

71796626

-
5CDS-intronENST00000394423ENST00000536917MDH1chr2

63831845

-LRTOMTchr11

71796626

-
5CDS-intronENST00000394423ENST00000440313MDH1chr2

63831845

-LRTOMTchr11

71796626

-
intron-intronENST00000462944ENST00000435085MDH1chr2

63831845

-LRTOMTchr11

71796626

-
intron-intronENST00000462944ENST00000307198MDH1chr2

63831845

-LRTOMTchr11

71796626

-
intron-intronENST00000462944ENST00000419228MDH1chr2

63831845

-LRTOMTchr11

71796626

-
intron-intronENST00000462944ENST00000447974MDH1chr2

63831845

-LRTOMTchr11

71796626

-
intron-intronENST00000462944ENST00000289488MDH1chr2

63831845

-LRTOMTchr11

71796626

-
intron-intronENST00000462944ENST00000539271MDH1chr2

63831845

-LRTOMTchr11

71796626

-
intron-intronENST00000462944ENST00000423494MDH1chr2

63831845

-LRTOMTchr11

71796626

-
intron-intronENST00000462944ENST00000539587MDH1chr2

63831845

-LRTOMTchr11

71796626

-
intron-intronENST00000462944ENST00000538478MDH1chr2

63831845

-LRTOMTchr11

71796626

-
intron-intronENST00000462944ENST00000324866MDH1chr2

63831845

-LRTOMTchr11

71796626

-
intron-intronENST00000462944ENST00000439209MDH1chr2

63831845

-LRTOMTchr11

71796626

-
intron-intronENST00000462944ENST00000541614MDH1chr2

63831845

-LRTOMTchr11

71796626

-
intron-intronENST00000462944ENST00000536917MDH1chr2

63831845

-LRTOMTchr11

71796626

-
intron-intronENST00000462944ENST00000440313MDH1chr2

63831845

-LRTOMTchr11

71796626

-

Top

FusionProtFeatures for MDH1_LRTOMT


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

P40925

LRTOMT

Q96E66


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


Top

FusionGeneSequence for MDH1_LRTOMT


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).

Top

FusionGenePPI for MDH1_LRTOMT


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 MDH1_LRTOMT


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

Top

RelatedDiseases for MDH1_LRTOMT


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
TgeneLRTOMTC1969621DEAFNESS, AUTOSOMAL RECESSIVE 632CTD_human;UNIPROT