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Center for Computational Systems Medicine
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Fusion Gene Summary

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Fusion Gene ORF analysis

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Fusion Genomic Features

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Fusion Protein Features

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Fusion Gene Sequence

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Fusion Gene PPI analysis

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Related Drugs

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Related Diseases

Fusion gene:MCM5-HMOX1 (FusionGDB2 ID:51917)

Fusion Gene Summary for MCM5-HMOX1

check button Fusion gene summary
Fusion gene informationFusion gene name: MCM5-HMOX1
Fusion gene ID: 51917
HgeneTgene
Gene symbol

MCM5

HMOX1

Gene ID

4174

3162

Gene nameminichromosome maintenance complex component 5heme oxygenase 1
SynonymsCDC46|MGORS8|P1-CDC46HMOX1D|HO-1|HSP32|bK286B10
Cytomap

22q12.3

22q12.3

Type of geneprotein-codingprotein-coding
DescriptionDNA replication licensing factor MCM5CDC46 homologMCM5 minichromosome maintenance deficient 5, cell division cycle 46minichromosome maintenance deficient 5 (cell division cycle 46)heme oxygenase 1heat shock protein, 32-kDheme oxygenase (decycling) 1
Modification date2020031520200313
UniProtAcc

P33992

P09601

Ensembl transtripts involved in fusion geneENST00000216122, ENST00000382011, 
ENST00000465557, 		ENST00000216117, 
Fusion gene scores* DoF score17 X 12 X 7=14284 X 5 X 5=100
# samples 226
** MAII scorelog2(22/1428*10)=-2.69842055050444
possibly effective Gene in Pan-Cancer Fusion Genes (peGinPCFGs).
DoF>8 and MAII<0		log2(6/100*10)=-0.736965594166206
possibly effective Gene in Pan-Cancer Fusion Genes (peGinPCFGs).
DoF>8 and MAII<0
Context

PubMed: MCM5 [Title/Abstract] AND HMOX1 [Title/Abstract] AND fusion [Title/Abstract]

Most frequent breakpointMCM5(35804556)-HMOX1(35785857), # samples:3
MCM5(35796598)-HMOX1(35789461), # samples:3
Anticipated loss of major functional domain due to fusion event.MCM5-HMOX1 seems lost the major protein functional domain in Hgene partner, which is a essential gene due to the frame-shifted ORF.
MCM5-HMOX1 seems lost the major protein functional domain in Tgene partner, which is a cell metabolism gene due to the frame-shifted ORF.
MCM5-HMOX1 seems lost the major protein functional domain in Tgene partner, which is a IUPHAR drug target due to the frame-shifted ORF.
* 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
TgeneHMOX1

GO:0006788

heme oxidation

17915953

TgeneHMOX1

GO:0035094

response to nicotine

18205746

TgeneHMOX1

GO:0042167

heme catabolic process

17915953

TgeneHMOX1

GO:0045766

positive regulation of angiogenesis

21788589

TgeneHMOX1

GO:0048661

positive regulation of smooth muscle cell proliferation

17600318

TgeneHMOX1

GO:0048662

negative regulation of smooth muscle cell proliferation

17600318

TgeneHMOX1

GO:0055072

iron ion homeostasis

17915953


check buttonFusion gene breakpoints across MCM5 (5'-gene)
* Click on the image to open the UCSC genome browser with custom track showing this image in a new window.

check buttonFusion gene breakpoints across HMOX1 (3'-gene)
* Click on the image to open the UCSC genome browser with custom track showing this image in a new window.

check button Fusion gene information from two resources (ChiTars 5.0 and ChimerDB 4.0)
* 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.
SourceDiseaseSampleHgeneHchrHbpHstrandTgeneTchrTbpTstrand
ChimerDB4BRCATCGA-AN-A0AT-01AMCM5chr22

35804556

+HMOX1chr22

35785857

+
ChimerDB4UCSTCGA-N6-A4V9-01AMCM5chr22

35796598

+HMOX1chr22

35789461

+
ChimerDB4BRCATCGA-AN-A0AT-01AMCM5chr22

35804556

+HMOX1chr22

35785857

+
ChimerDB4UCECTCGA-B5-A11I-01AMCM5chr22

35799535

+HMOX1chr22

35785857

+
ChimerDB4UCSTCGA-N6-A4V9MCM5chr22

35796598

+HMOX1chr22

35789461

+
ChimerDB4BRCATCGA-AN-A0AT-01AMCM5chr22

35804556

-HMOX1chr22

35785857

+
ChimerDB4UCSTCGA-N6-A4V9-01AMCM5chr22

35796598

-HMOX1chr22

35789461

+


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Fusion Gene ORF analysis for MCM5-HMOX1

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
Frame-shiftENST00000216122ENST00000216117MCM5chr22

35804556

+HMOX1chr22

35785857

+
Frame-shiftENST00000382011ENST00000216117MCM5chr22

35804556

+HMOX1chr22

35785857

+
intron-3CDSENST00000465557ENST00000216117MCM5chr22

35804556

+HMOX1chr22

35785857

+
In-frameENST00000216122ENST00000216117MCM5chr22

35796598

+HMOX1chr22

35789461

+
In-frameENST00000382011ENST00000216117MCM5chr22

35796598

+HMOX1chr22

35789461

+
intron-3CDSENST00000465557ENST00000216117MCM5chr22

35796598

+HMOX1chr22

35789461

+
In-frameENST00000216122ENST00000216117MCM5chr22

35799535

+HMOX1chr22

35785857

+
intron-3CDSENST00000382011ENST00000216117MCM5chr22

35799535

+HMOX1chr22

35785857

+
intron-3CDSENST00000465557ENST00000216117MCM5chr22

35799535

+HMOX1chr22

35785857

+

check buttonORFfinder result based on the fusion transcript sequence of in-frame fusion genes.
HenstTenstHgeneHchrHbpHstrandTgeneTchrTbpTstrandSeq length
(transcript)		BP loci
(transcript)		Predicted start
(transcript)		Predicted stop
(transcript)		Seq length
(amino acids)

check buttonDeepORF prediction of the coding potential based on the fusion transcript sequence of in-frame fusion genes. DeepORF is a coding potential classifier based on convolutional neural network by comparing the real Ribo-seq data. If the no-coding score < 0.5 and coding score > 0.5, then the in-frame fusion transcript is predicted as being likely translated.
HenstTenstHgeneHchrHbpHstrandTgeneTchrTbpTstrandNo-coding scoreCoding score

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Fusion Genomic Features for MCM5-HMOX1


check buttonFusionAI prediction of the potential fusion gene breakpoint based on the pre-mature RNA sequence context (+/- 5kb of individual partner genes, total 20kb length sequence). FusionAI is a fusion gene breakpoint classifier based on convolutional neural network by comparing the fusion positive and negative sequence context of ~ 20K fusion gene data. From here, we can have the relative potentency of the 20K genomic sequence how individual sequnce will be likely used as the gene fusion breakpoints.
HgeneHchrHbpHstrandTgeneTchrTbpTstrand1-pp (fusion gene breakpoint)

check buttonDistribution of 44 human genomic features loci across 20kb length fusion breakpoint regions. We integrated a total of 44 different types of human genomic feature loci information across five big categories including virus integration sites, repeats, structural variants, chromatin states, and gene expression regulation. More details are in help page.

check buttonDistribution of 44 human genomic features loci across 20kb length fusion breakpoint regions that are ovelapped with the top 1% feature importance score regions. More details are in help page.

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Fusion Protein Features for MCM5-HMOX1


check button Go to

FGviewer for the breakpoints of chr22:35796598-chr22:35789461

.
- FGviewer provides the online visualization of the retention search of the protein functional features across DNA, RNA, protein, and pathological levels.
FGviewer

check buttonMain function of each fusion partner protein. (from UniProt)
HgeneTgene
MCM5

P33992

HMOX1

P09601

FUNCTION: Acts as component of the MCM2-7 complex (MCM complex) which is the putative replicative helicase essential for 'once per cell cycle' DNA replication initiation and elongation in eukaryotic cells. The active ATPase sites in the MCM2-7 ring are formed through the interaction surfaces of two neighboring subunits such that a critical structure of a conserved arginine finger motif is provided in trans relative to the ATP-binding site of the Walker A box of the adjacent subunit. The six ATPase active sites, however, are likely to contribute differentially to the complex helicase activity. {ECO:0000269|PubMed:16899510}.FUNCTION: Heme oxygenase cleaves the heme ring at the alpha methene bridge to form biliverdin. Biliverdin is subsequently converted to bilirubin by biliverdin reductase. Under physiological conditions, the activity of heme oxygenase is highest in the spleen, where senescent erythrocytes are sequestrated and destroyed. Exhibits cytoprotective effects since excess of free heme sensitizes cells to undergo apoptosis.

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
HgeneMCM5chr22:35796598chr22:35789461ENST00000216122+217331_53755.666666666666664735.0DomainNote=MCM
HgeneMCM5chr22:35799535chr22:35785857ENST00000216122+417331_537141.0735.0DomainNote=MCM
HgeneMCM5chr22:35796598chr22:35789461ENST00000216122+217381_38855.666666666666664735.0Nucleotide bindingATP
HgeneMCM5chr22:35799535chr22:35785857ENST00000216122+417381_388141.0735.0Nucleotide bindingATP


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Fusion Gene Sequence for MCM5-HMOX1


check button For in-frame fusion transcripts, we provide the fusion transcript sequences and fusion amino acid sequences. To have fusion amino acid sequence, we ran ORFfinder and chose the longest ORF among the all predicted ones.

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Fusion Gene PPI Analysis for MCM5-HMOX1


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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Related Drugs for MCM5-HMOX1


check button Drugs targeting genes involved in this fusion gene.
(DrugBank Version 5.1.8 2021-05-08)
PartnerGeneUniProtAccDrugBank IDDrug nameDrug activityDrug typeDrug status
TgeneHMOX1P09601DB00157NADHSmall moleculeApproved|Nutraceutical
TgeneHMOX1P09601DB00157NADHSmall moleculeApproved|Nutraceutical
TgeneHMOX1P09601DB00157NADHSmall moleculeApproved|Nutraceutical

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Related Diseases for MCM5-HMOX1


check button Diseases associated with fusion partners.
(DisGeNet 4.0)
PartnerGeneDisease IDDisease name# pubmedsSource
HgeneMCM5C0001956Alcohol Use Disorder1PSYGENET
HgeneMCM5C4479655MEIER-GORLIN SYNDROME 81GENOMICS_ENGLAND;UNIPROT
TgeneHMOX1C0035126Reperfusion Injury6CTD_human
TgeneHMOX1C0002152Alloxan Diabetes4CTD_human
TgeneHMOX1C0011853Diabetes Mellitus, Experimental4CTD_human
TgeneHMOX1C0021368Inflammation4CTD_human
TgeneHMOX1C0023893Liver Cirrhosis, Experimental4CTD_human
TgeneHMOX1C0038433Streptozotocin Diabetes4CTD_human
TgeneHMOX1C0011860Diabetes Mellitus, Non-Insulin-Dependent3CTD_human
TgeneHMOX1C0020538Hypertensive disease3CTD_human
TgeneHMOX1C0023895Liver diseases3CTD_human
TgeneHMOX1C0028754Obesity3CTD_human
TgeneHMOX1C0086565Liver Dysfunction3CTD_human
TgeneHMOX1C0270715Degenerative Diseases, Central Nervous System3CTD_human
TgeneHMOX1C0524851Neurodegenerative Disorders3CTD_human
TgeneHMOX1C0751733Degenerative Diseases, Spinal Cord3CTD_human
TgeneHMOX1C0009319Colitis2CTD_human
TgeneHMOX1C0019193Hepatitis, Toxic2CTD_human
TgeneHMOX1C0021655Insulin Resistance2CTD_human
TgeneHMOX1C0022116Ischemia2CTD_human
TgeneHMOX1C0024121Lung Neoplasms2CTD_human
TgeneHMOX1C0024623Malignant neoplasm of stomach2CTD_human
TgeneHMOX1C0038356Stomach Neoplasms2CTD_human
TgeneHMOX1C0242379Malignant neoplasm of lung2CTD_human
TgeneHMOX1C0860207Drug-Induced Liver Disease2CTD_human
TgeneHMOX1C0920563Insulin Sensitivity2CTD_human
TgeneHMOX1C1262760Hepatitis, Drug-Induced2CTD_human
TgeneHMOX1C1708349Hereditary Diffuse Gastric Cancer2CTD_human
TgeneHMOX1C3658290Drug-Induced Acute Liver Injury2CTD_human
TgeneHMOX1C4277682Chemical and Drug Induced Liver Injury2CTD_human
TgeneHMOX1C4279912Chemically-Induced Liver Toxicity2CTD_human
TgeneHMOX1C0002395Alzheimer's Disease1CTD_human
TgeneHMOX1C0002726Amyloidosis1GENOMICS_ENGLAND
TgeneHMOX1C0002878Anemia, Hemolytic1CTD_human
TgeneHMOX1C0002879Anemia, Hemolytic, Acquired1CTD_human
TgeneHMOX1C0002889Anemia, Microangiopathic1CTD_human
TgeneHMOX1C0004096Asthma1CTD_human
TgeneHMOX1C0005779Blood Coagulation Disorders1CTD_human
TgeneHMOX1C0006142Malignant neoplasm of breast1CTD_human
TgeneHMOX1C0007273Carotid Artery Diseases1CTD_human
TgeneHMOX1C0010054Coronary Arteriosclerosis1CTD_human
TgeneHMOX1C0011265Presenile dementia1CTD_human
TgeneHMOX1C0011616Contact Dermatitis1CTD_human
TgeneHMOX1C0011875Diabetic Angiopathies1CTD_human
TgeneHMOX1C0012715Iron Metabolism Disorders1CTD_human
TgeneHMOX1C0013221Drug toxicity1CTD_human
TgeneHMOX1C0016059Fibrosis1CTD_human
TgeneHMOX1C0018273Growth Disorders1CTD_human
TgeneHMOX1C0018800Cardiomegaly1CTD_human
TgeneHMOX1C0018801Heart failure1CTD_human
TgeneHMOX1C0018802Congestive heart failure1CTD_human
TgeneHMOX1C0019054Hemolysis (disorder)1CTD_human
TgeneHMOX1C0019158Hepatitis1CTD_human
TgeneHMOX1C0019212Hepatorenal Syndrome1CTD_human
TgeneHMOX1C0020459Hyperinsulinism1CTD_human
TgeneHMOX1C0020507Hyperplasia1CTD_human
TgeneHMOX1C0022660Kidney Failure, Acute1CTD_human
TgeneHMOX1C0022661Kidney Failure, Chronic1CTD_human
TgeneHMOX1C0023186Learning Disorders1CTD_human
TgeneHMOX1C0023212Left-Sided Heart Failure1CTD_human
TgeneHMOX1C0023290Leishmaniasis, Visceral1CTD_human
TgeneHMOX1C0023903Liver neoplasms1CTD_human
TgeneHMOX1C0024668Mammary Neoplasms, Experimental1CTD_human
TgeneHMOX1C0025945Microangiopathy, Diabetic1CTD_human
TgeneHMOX1C0027626Neoplasm Invasiveness1CTD_human
TgeneHMOX1C0030286Pancreatic Diseases1CTD_human
TgeneHMOX1C0030567Parkinson Disease1CTD_human
TgeneHMOX1C0032285Pneumonia1CTD_human
TgeneHMOX1C0032300Lobar Pneumonia1CTD_human
TgeneHMOX1C0032914Pre-Eclampsia1CTD_human
TgeneHMOX1C0033578Prostatic Neoplasms1CTD_human
TgeneHMOX1C0034067Pulmonary Emphysema1CTD_human
TgeneHMOX1C0034069Pulmonary Fibrosis1CTD_human
TgeneHMOX1C0035309Retinal Diseases1CTD_human
TgeneHMOX1C0036341Schizophrenia1PSYGENET
TgeneHMOX1C0038220Status Epilepticus1CTD_human
TgeneHMOX1C0040053Thrombosis1CTD_human
TgeneHMOX1C0041755Adverse reaction to drug1CTD_human
TgeneHMOX1C0087086Thrombus1CTD_human
TgeneHMOX1C0151744Myocardial Ischemia1CTD_human
TgeneHMOX1C0152020Gastroparesis1CTD_human
TgeneHMOX1C0162309Adrenoleukodystrophy1CTD_human
TgeneHMOX1C0162351Contact hypersensitivity1CTD_human
TgeneHMOX1C0221013Mastocytosis, Systemic1CTD_human
TgeneHMOX1C0221021Microangiopathic hemolytic anemia1CTD_human
TgeneHMOX1C0221227Centriacinar Emphysema1CTD_human
TgeneHMOX1C0235527Heart Failure, Right-Sided1CTD_human
TgeneHMOX1C0235574Intravascular hemolysis1CTD_human
TgeneHMOX1C0264393Panacinar Emphysema1CTD_human
TgeneHMOX1C0270823Petit mal status1CTD_human
TgeneHMOX1C0272203Indolent Systemic Mastocytosis1CTD_human
TgeneHMOX1C0273115Lung Injury1CTD_human
TgeneHMOX1C0276496Familial Alzheimer Disease (FAD)1CTD_human
TgeneHMOX1C0311335Grand Mal Status Epilepticus1CTD_human
TgeneHMOX1C0312854Extravascular Hemolysis1CTD_human
TgeneHMOX1C0345904Malignant neoplasm of liver1CTD_human
TgeneHMOX1C0376358Malignant neoplasm of prostate1CTD_human
TgeneHMOX1C0393734Complex Partial Status Epilepticus1CTD_human
TgeneHMOX1C0494463Alzheimer Disease, Late Onset1CTD_human
TgeneHMOX1C0546126Acute Confusional Senile Dementia1CTD_human
TgeneHMOX1C0577631Carotid Atherosclerosis1CTD_human
TgeneHMOX1C0600178External Carotid Artery Diseases1CTD_human
TgeneHMOX1C0678222Breast Carcinoma1CTD_human
TgeneHMOX1C0750900Alzheimer's Disease, Focal Onset1CTD_human
TgeneHMOX1C0750901Alzheimer Disease, Early Onset1CTD_human
TgeneHMOX1C0750986Internal Carotid Artery Diseases1CTD_human
TgeneHMOX1C0750987Arterial Diseases, Common Carotid1CTD_human
TgeneHMOX1C0751262Adult Learning Disorders1CTD_human
TgeneHMOX1C0751263Learning Disturbance1CTD_human
TgeneHMOX1C0751265Learning Disabilities1CTD_human
TgeneHMOX1C0751522Status Epilepticus, Subclinical1CTD_human
TgeneHMOX1C0751523Non-Convulsive Status Epilepticus1CTD_human
TgeneHMOX1C0751524Simple Partial Status Epilepticus1CTD_human
TgeneHMOX1C0887898Experimental Lung Inflammation1CTD_human
TgeneHMOX1C1112486Aggressive Systemic Mastocytosis1CTD_human
TgeneHMOX1C1257931Mammary Neoplasms, Human1CTD_human
TgeneHMOX1C1257963Endogenous Hyperinsulinism1CTD_human
TgeneHMOX1C1257964Exogenous Hyperinsulinism1CTD_human
TgeneHMOX1C1257965Compensatory Hyperinsulinemia1CTD_human
TgeneHMOX1C1330966Developmental Academic Disorder1CTD_human
TgeneHMOX1C1383860Cardiac Hypertrophy1CTD_human
TgeneHMOX1C1458155Mammary Neoplasms1CTD_human
TgeneHMOX1C1527231Adrenomyeloneuropathy1CTD_human
TgeneHMOX1C1565662Acute Kidney Insufficiency1CTD_human
TgeneHMOX1C1623038Cirrhosis1CTD_human
TgeneHMOX1C1846707SPINOCEREBELLAR ATAXIA 171CTD_human
TgeneHMOX1C1956346Coronary Artery Disease1CTD_human
TgeneHMOX1C1959583Myocardial Failure1CTD_human
TgeneHMOX1C1961112Heart Decompensation1CTD_human
TgeneHMOX1C2350344Chronic Lung Injury1CTD_human
TgeneHMOX1C2350878Focal Emphysema1CTD_human
TgeneHMOX1C2609414Acute kidney injury1CTD_human
TgeneHMOX1C2937358Cerebral Hemorrhage1CTD_human
TgeneHMOX1C3714636Pneumonitis1CTD_human
TgeneHMOX1C4704874Mammary Carcinoma, Human1CTD_human
TgeneHMOX1C4721507Alveolitis, Fibrosing1CTD_human