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: 28039

FusionGeneSummary for POR_MDH2

check button Fusion gene summary
Fusion gene informationFusion gene name: POR_MDH2
Fusion gene ID: 28039
HgeneTgene
Gene symbol

POR

MDH2

Gene ID

7417

4191

Gene namevoltage dependent anion channel 2malate dehydrogenase 2
SynonymsPOREIEE51|M-MDH|MDH|MGC:3559|MOR1
Cytomap

10q22.2

7q11.23

Type of geneprotein-codingprotein-coding
Descriptionvoltage-dependent anion-selective channel protein 2outer mitochondrial membrane protein porin 2malate dehydrogenase, mitochondrialmalate dehydrogenase 2, NAD (mitochondrial)testicular tissue protein Li 120
Modification date2018052720180519
UniProtAcc

P16435

P40926

Ensembl transtripts involved in fusion geneENST00000461988, ENST00000419840, 
ENST00000394893, ENST00000475509, 
ENST00000545601, ENST00000450476, 
ENST00000439269, 		ENST00000461263, 
ENST00000315758, ENST00000443006, 
ENST00000490105, ENST00000432020, 
Fusion gene scores* DoF score5 X 4 X 5=1002 X 2 X 3=12
# samples 63
** MAII scorelog2(6/100*10)=-0.736965594166206
possibly effective Gene in Pan-Cancer Fusion Genes (peGinPCFGs).
DoF>8 and MAII<0		log2(3/12*10)=1.32192809488736
effective Gene in Pan-Cancer Fusion Genes (eGinPCFGs).
DoF>8 and MAII>0
Context

PubMed: POR [Title/Abstract] AND MDH2 [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
HgenePOR

GO:0006820

anion transport

8420959

TgeneMDH2

GO:0006108

malate metabolic process

16740313

TgeneMDH2

GO:0006475

internal protein amino acid acetylation

20167786

TgeneMDH2

GO:0009060

aerobic respiration

27989324


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
TCGALDBRCATCGA-BH-A18H-01APORchr7

75544497

+MDH2chr7

75684148

+
TCGALDOVTCGA-59-2348-01APORchr7

75544497

+MDH2chr7

75684148

+
* 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
5UTR-intronENST00000461988ENST00000461263PORchr7

75544497

+MDH2chr7

75684148

+
5UTR-intronENST00000461988ENST00000315758PORchr7

75544497

+MDH2chr7

75684148

+
5UTR-intronENST00000461988ENST00000443006PORchr7

75544497

+MDH2chr7

75684148

+
5UTR-3UTRENST00000461988ENST00000490105PORchr7

75544497

+MDH2chr7

75684148

+
5UTR-3UTRENST00000461988ENST00000432020PORchr7

75544497

+MDH2chr7

75684148

+
5UTR-intronENST00000419840ENST00000461263PORchr7

75544497

+MDH2chr7

75684148

+
5UTR-intronENST00000419840ENST00000315758PORchr7

75544497

+MDH2chr7

75684148

+
5UTR-intronENST00000419840ENST00000443006PORchr7

75544497

+MDH2chr7

75684148

+
5UTR-3UTRENST00000419840ENST00000490105PORchr7

75544497

+MDH2chr7

75684148

+
5UTR-3UTRENST00000419840ENST00000432020PORchr7

75544497

+MDH2chr7

75684148

+
5UTR-intronENST00000394893ENST00000461263PORchr7

75544497

+MDH2chr7

75684148

+
5UTR-intronENST00000394893ENST00000315758PORchr7

75544497

+MDH2chr7

75684148

+
5UTR-intronENST00000394893ENST00000443006PORchr7

75544497

+MDH2chr7

75684148

+
5UTR-3UTRENST00000394893ENST00000490105PORchr7

75544497

+MDH2chr7

75684148

+
5UTR-3UTRENST00000394893ENST00000432020PORchr7

75544497

+MDH2chr7

75684148

+
intron-intronENST00000475509ENST00000461263PORchr7

75544497

+MDH2chr7

75684148

+
intron-intronENST00000475509ENST00000315758PORchr7

75544497

+MDH2chr7

75684148

+
intron-intronENST00000475509ENST00000443006PORchr7

75544497

+MDH2chr7

75684148

+
intron-3UTRENST00000475509ENST00000490105PORchr7

75544497

+MDH2chr7

75684148

+
intron-3UTRENST00000475509ENST00000432020PORchr7

75544497

+MDH2chr7

75684148

+
intron-intronENST00000545601ENST00000461263PORchr7

75544497

+MDH2chr7

75684148

+
intron-intronENST00000545601ENST00000315758PORchr7

75544497

+MDH2chr7

75684148

+
intron-intronENST00000545601ENST00000443006PORchr7

75544497

+MDH2chr7

75684148

+
intron-3UTRENST00000545601ENST00000490105PORchr7

75544497

+MDH2chr7

75684148

+
intron-3UTRENST00000545601ENST00000432020PORchr7

75544497

+MDH2chr7

75684148

+
intron-intronENST00000450476ENST00000461263PORchr7

75544497

+MDH2chr7

75684148

+
intron-intronENST00000450476ENST00000315758PORchr7

75544497

+MDH2chr7

75684148

+
intron-intronENST00000450476ENST00000443006PORchr7

75544497

+MDH2chr7

75684148

+
intron-3UTRENST00000450476ENST00000490105PORchr7

75544497

+MDH2chr7

75684148

+
intron-3UTRENST00000450476ENST00000432020PORchr7

75544497

+MDH2chr7

75684148

+
intron-intronENST00000439269ENST00000461263PORchr7

75544497

+MDH2chr7

75684148

+
intron-intronENST00000439269ENST00000315758PORchr7

75544497

+MDH2chr7

75684148

+
intron-intronENST00000439269ENST00000443006PORchr7

75544497

+MDH2chr7

75684148

+
intron-3UTRENST00000439269ENST00000490105PORchr7

75544497

+MDH2chr7

75684148

+
intron-3UTRENST00000439269ENST00000432020PORchr7

75544497

+MDH2chr7

75684148

+

Top

FusionProtFeatures for POR_MDH2


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

P16435

MDH2

P40926

This enzyme is required for electron transfer from NADPto cytochrome P450 in microsomes. It can also provide electrontransfer to heme oxygenase and cytochrome B5. {ECO:0000255|HAMAP-Rule:MF_03212}.

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 POR_MDH2


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 POR_MDH2


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
PORCYP2C19, CYP2C9, CYP2E1, CYP1A2, FANCC, RABEPK, PGRMC1, INSIG1, CYP2A6, CYP2D6, CYP3A4, STAT1, DERL1, DERL2, SYVN1, SRPRB, BTN2A1, UBXN6, ATL3, NDUFB9, NDUFV1, DARS2, EWSR1, PLOD1, PLOD3, VAPA, XPO1, NTRK1, TCTN2, TCTN3, EVC2, TMEM216, POR, CTDNEP1, SNX8, RARSMDH2WARS, FH, PC, MDH2, PSMD4, HDAC5, PCNA, PSMA3, CDK2, COPS5, CRYAB, ATP5A1, LDHAL6A, CLNS1A, ATP5B, SERPINH1, IDH1, MRPS28, FN1, VCAM1, ATF2, METTL21B, ITGA4, PARK2, GRSF1, HUWE1, FUS, CUL7, OBSL1, CCDC8, CORO1C, IDH3A, CFL1, COTL1, DAZAP1, GLRX2, GRPEL1, SDHA, SOD1, YKT6, NUDC, QSOX2, RAB10, SDHB, UBE2L3, UFM1, NTRK1, PPME1, U2AF2, NFATC1, DERL1, CYLD, COQ2, DLST, DNM1L, HSD17B10, PARK7, PDHA1, SOAT1, TRIM25, BRCA1


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 POR_MDH2


check button Drugs targeting genes involved in this fusion gene.
(DrugBank Version 5.1.0 2018-04-02)
PartnerGeneUniProtAccDrugBank IDDrug nameDrug activityDrug typeDrug status
TgeneMDH2P40926DB04272Citric AcidMalate dehydrogenase, mitochondrialsmall moleculeapproved|nutraceutical|vet_approved
TgeneMDH2P40926DB09092XanthinolMalate dehydrogenase, mitochondrialsmall moleculeapproved|withdrawn

Top

RelatedDiseases for POR_MDH2


check button Diseases associated with fusion partners.
(DisGeNet 4.0)
PartnerGeneDisease IDDisease name# pubmedsSource
HgenePORC2350233Antley-Bixler Syndrome Phenotype4CTD_human
HgenePORC3150099ANTLEY-BIXLER SYNDROME WITH GENITAL ANOMALIES AND DISORDERED STEROIDOGENESIS4CTD_human;UNIPROT
HgenePORC1860042Antley-Bixler Syndrome with Disordered Steroidogenesis2ORPHANET;UNIPROT
HgenePORC0001627Congenital adrenal hyperplasia1CTD_human;HPO
HgenePORC0002453Amenorrhea1CTD_human
HgenePORC0005695Bladder Neoplasm1CTD_human
HgenePORC0007621Neoplastic Cell Transformation1CTD_human
HgenePORC0023186Learning Disorders1CTD_human
HgenePORC0206726gliosarcoma1CTD_human
TgeneMDH2C0024667Animal Mammary Neoplasms1CTD_human
TgeneMDH2C0024668Mammary Neoplasms, Experimental1CTD_human