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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: 21356

FusionGeneSummary for MDH1_CTNNA1

check button Fusion gene summary
Fusion gene informationFusion gene name: MDH1_CTNNA1
Fusion gene ID: 21356
HgeneTgene
Gene symbol

MDH1

CTNNA1

Gene ID

4190

1495

Gene namemalate dehydrogenase 1catenin alpha 1
SynonymsHEL-S-32|MDH-s|MDHA|MGC:1375|MOR2CAP102|MDPT2
Cytomap

2p15

5q31.2

Type of geneprotein-codingprotein-coding
Descriptionmalate dehydrogenase, cytoplasmicmalate dehydrogenase, peroxisomalcytosolic malate dehydrogenasediiodophenylpyruvate reductaseepididymis secretory protein Li 32malate dehydrogenase 1, NAD (soluble)soluble malate dehydrogenasecatenin alpha-1alpha-E-catenincatenin (cadherin-associated protein), alpha 1, 102kDarenal carcinoma antigen NY-REN-13
Modification date2018052320180522
UniProtAcc

P40925

P35221

Ensembl transtripts involved in fusion geneENST00000233114, ENST00000409908, 
ENST00000409476, ENST00000539945, 
ENST00000544381, ENST00000394423, 
ENST00000462944, 		ENST00000355078, 
ENST00000302763, ENST00000518825, 
ENST00000520400, ENST00000540387, 
Fusion gene scores* DoF score4 X 4 X 2=3211 X 13 X 6=858
# samples 413
** MAII scorelog2(4/32*10)=0.321928094887362
effective Gene in Pan-Cancer Fusion Genes (eGinPCFGs).
DoF>8 and MAII>0		log2(13/858*10)=-2.72246602447109
possibly effective Gene in Pan-Cancer Fusion Genes (peGinPCFGs).
DoF>8 and MAII<0
Context

PubMed: MDH1 [Title/Abstract] AND CTNNA1 [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
TgeneCTNNA1

GO:0071681

cellular response to indole-3-methanol

10868478


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
ChiTaRS3.1CK003575MDH1chr2

63816146

+CTNNA1chr5

138269887

+
* 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-3UTRENST00000233114ENST00000355078MDH1chr2

63816146

+CTNNA1chr5

138269887

+
5UTR-3UTRENST00000233114ENST00000302763MDH1chr2

63816146

+CTNNA1chr5

138269887

+
5UTR-3UTRENST00000233114ENST00000518825MDH1chr2

63816146

+CTNNA1chr5

138269887

+
5UTR-intronENST00000233114ENST00000520400MDH1chr2

63816146

+CTNNA1chr5

138269887

+
5UTR-3UTRENST00000233114ENST00000540387MDH1chr2

63816146

+CTNNA1chr5

138269887

+
5UTR-3UTRENST00000409908ENST00000355078MDH1chr2

63816146

+CTNNA1chr5

138269887

+
5UTR-3UTRENST00000409908ENST00000302763MDH1chr2

63816146

+CTNNA1chr5

138269887

+
5UTR-3UTRENST00000409908ENST00000518825MDH1chr2

63816146

+CTNNA1chr5

138269887

+
5UTR-intronENST00000409908ENST00000520400MDH1chr2

63816146

+CTNNA1chr5

138269887

+
5UTR-3UTRENST00000409908ENST00000540387MDH1chr2

63816146

+CTNNA1chr5

138269887

+
5UTR-3UTRENST00000409476ENST00000355078MDH1chr2

63816146

+CTNNA1chr5

138269887

+
5UTR-3UTRENST00000409476ENST00000302763MDH1chr2

63816146

+CTNNA1chr5

138269887

+
5UTR-3UTRENST00000409476ENST00000518825MDH1chr2

63816146

+CTNNA1chr5

138269887

+
5UTR-intronENST00000409476ENST00000520400MDH1chr2

63816146

+CTNNA1chr5

138269887

+
5UTR-3UTRENST00000409476ENST00000540387MDH1chr2

63816146

+CTNNA1chr5

138269887

+
intron-3UTRENST00000539945ENST00000355078MDH1chr2

63816146

+CTNNA1chr5

138269887

+
intron-3UTRENST00000539945ENST00000302763MDH1chr2

63816146

+CTNNA1chr5

138269887

+
intron-3UTRENST00000539945ENST00000518825MDH1chr2

63816146

+CTNNA1chr5

138269887

+
intron-intronENST00000539945ENST00000520400MDH1chr2

63816146

+CTNNA1chr5

138269887

+
intron-3UTRENST00000539945ENST00000540387MDH1chr2

63816146

+CTNNA1chr5

138269887

+
intron-3UTRENST00000544381ENST00000355078MDH1chr2

63816146

+CTNNA1chr5

138269887

+
intron-3UTRENST00000544381ENST00000302763MDH1chr2

63816146

+CTNNA1chr5

138269887

+
intron-3UTRENST00000544381ENST00000518825MDH1chr2

63816146

+CTNNA1chr5

138269887

+
intron-intronENST00000544381ENST00000520400MDH1chr2

63816146

+CTNNA1chr5

138269887

+
intron-3UTRENST00000544381ENST00000540387MDH1chr2

63816146

+CTNNA1chr5

138269887

+
intron-3UTRENST00000394423ENST00000355078MDH1chr2

63816146

+CTNNA1chr5

138269887

+
intron-3UTRENST00000394423ENST00000302763MDH1chr2

63816146

+CTNNA1chr5

138269887

+
intron-3UTRENST00000394423ENST00000518825MDH1chr2

63816146

+CTNNA1chr5

138269887

+
intron-intronENST00000394423ENST00000520400MDH1chr2

63816146

+CTNNA1chr5

138269887

+
intron-3UTRENST00000394423ENST00000540387MDH1chr2

63816146

+CTNNA1chr5

138269887

+
3UTR-3UTRENST00000462944ENST00000355078MDH1chr2

63816146

+CTNNA1chr5

138269887

+
3UTR-3UTRENST00000462944ENST00000302763MDH1chr2

63816146

+CTNNA1chr5

138269887

+
3UTR-3UTRENST00000462944ENST00000518825MDH1chr2

63816146

+CTNNA1chr5

138269887

+
3UTR-intronENST00000462944ENST00000520400MDH1chr2

63816146

+CTNNA1chr5

138269887

+
3UTR-3UTRENST00000462944ENST00000540387MDH1chr2

63816146

+CTNNA1chr5

138269887

+

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FusionProtFeatures for MDH1_CTNNA1


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

P40925

CTNNA1

P35221

Associates with the cytoplasmic domain of a variety ofcadherins. The association of catenins to cadherins produces acomplex which is linked to the actin filament network, and whichseems to be of primary importance for cadherins cell-adhesionproperties. Can associate with both E- and N-cadherins. Originallybelieved to be a stable component of E-cadherin/catenin adhesioncomplexes and to mediate the linkage of cadherins to the actincytoskeleton at adherens junctions. In contrast, cortical actinwas found to be much more dynamic than E-cadherin/catenincomplexes and CTNNA1 was shown not to bind to F-actin whenassembled in the complex suggesting a different linkage betweenactin and adherens junctions components. The homodimeric form mayregulate actin filament assembly and inhibit actin branching bycompeting with the Arp2/3 complex for binding to actin filaments.May play a crucial role in cell differentiation.{ECO:0000269|PubMed:25653389}.

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 MDH1_CTNNA1


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_CTNNA1


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_CTNNA1


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

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RelatedDiseases for MDH1_CTNNA1


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
TgeneCTNNA1C0023467Leukemia, Myelocytic, Acute1CTD_human
TgeneCTNNA1C1837029Macular Dystrophy, Butterfly-Shaped Pigmentary, 21UNIPROT
TgeneCTNNA1C1868569Patterned dystrophy of retinal pigment epithelium1CTD_human
TgeneCTNNA1C3463824MYELODYSPLASTIC SYNDROME1CTD_human