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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:MECP2-F8 (FusionGDB2 ID:52206)

Fusion Gene Summary for MECP2-F8

check button Fusion gene summary
Fusion gene informationFusion gene name: MECP2-F8
Fusion gene ID: 52206
HgeneTgene
Gene symbol

MECP2

F8

Gene ID

4204

2157

Gene namemethyl-CpG binding protein 2coagulation factor VIII
SynonymsAUTSX3|MRX16|MRX79|MRXS13|MRXSL|PPMX|RS|RTS|RTTAHF|DXS1253E|F8B|F8C|FVIII|HEMA
Cytomap

Xq28

Xq28

Type of geneprotein-codingprotein-coding
Descriptionmethyl-CpG-binding protein 2meCp-2 proteincoagulation factor VIIIantihemophilic factorcoagulation factor VIII A1 domaincoagulation factor VIII C2 domaincoagulation factor VIII, procoagulant componentcoagulation factor VIIIcfactor VIII F8B
Modification date2020031520200313
UniProtAcc.

P00451

Ensembl transtripts involved in fusion geneENST00000303391, ENST00000453960, 
ENST00000407218, ENST00000460227, 
ENST00000360256, ENST00000330287, 
ENST00000483822, 
Fusion gene scores* DoF score8 X 7 X 4=2245 X 5 X 5=125
# samples 85
** MAII scorelog2(8/224*10)=-1.48542682717024
possibly effective Gene in Pan-Cancer Fusion Genes (peGinPCFGs).
DoF>8 and MAII<0		log2(5/125*10)=-1.32192809488736
possibly effective Gene in Pan-Cancer Fusion Genes (peGinPCFGs).
DoF>8 and MAII<0
Context

PubMed: MECP2 [Title/Abstract] AND F8 [Title/Abstract] AND fusion [Title/Abstract]

Most frequent breakpointMECP2(153357642)-F8(154185446), # samples:2
Anticipated loss of major functional domain due to fusion event.MECP2-F8 seems lost the major protein functional domain in Hgene partner, which is a transcription factor due to the frame-shifted ORF.
MECP2-F8 seems lost the major protein functional domain in Hgene partner, which is a epigenetic factor due to the frame-shifted ORF.
MECP2-F8 seems lost the major protein functional domain in Tgene partner, which is a essential gene due to the frame-shifted ORF.
MECP2-F8 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
HgeneMECP2

GO:0010629

negative regulation of gene expression

23960241

HgeneMECP2

GO:0043537

negative regulation of blood vessel endothelial cell migration

23960241

HgeneMECP2

GO:0045892

negative regulation of transcription, DNA-templated

11441023

HgeneMECP2

GO:1905643

positive regulation of DNA methylation

23960241


check buttonFusion gene breakpoints across MECP2 (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 F8 (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
ChimerDB4LIHCTCGA-K7-AAU7-01AMECP2chrX

153357642

-F8chrX

154185446

-
ChimerDB4LIHCTCGA-K7-AAU7-01AMECP2chrX

153357642

-F8chrX

154185446

-


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Fusion Gene ORF analysis for MECP2-F8

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-shiftENST00000303391ENST00000360256MECP2chrX

153357642

-F8chrX

154185446

-
5CDS-intronENST00000303391ENST00000330287MECP2chrX

153357642

-F8chrX

154185446

-
5CDS-intronENST00000303391ENST00000483822MECP2chrX

153357642

-F8chrX

154185446

-
intron-3CDSENST00000453960ENST00000360256MECP2chrX

153357642

-F8chrX

154185446

-
intron-intronENST00000453960ENST00000330287MECP2chrX

153357642

-F8chrX

154185446

-
intron-intronENST00000453960ENST00000483822MECP2chrX

153357642

-F8chrX

154185446

-
Frame-shiftENST00000407218ENST00000360256MECP2chrX

153357642

-F8chrX

154185446

-
5CDS-intronENST00000407218ENST00000330287MECP2chrX

153357642

-F8chrX

154185446

-
5CDS-intronENST00000407218ENST00000483822MECP2chrX

153357642

-F8chrX

154185446

-
intron-3CDSENST00000460227ENST00000360256MECP2chrX

153357642

-F8chrX

154185446

-
intron-intronENST00000460227ENST00000330287MECP2chrX

153357642

-F8chrX

154185446

-
intron-intronENST00000460227ENST00000483822MECP2chrX

153357642

-F8chrX

154185446

-

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 MECP2-F8


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 MECP2-F8


check button Go to

FGviewer for the breakpoints of :-:

.
- 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
.F8

P00451

FUNCTION: Might normally function as a transcriptional repressor. EWS-fusion-proteins (EFPS) may play a role in the tumorigenic process. They may disturb gene expression by mimicking, or interfering with the normal function of CTD-POLII within the transcription initiation complex. They may also contribute to an aberrant activation of the fusion protein target genes.FUNCTION: Factor VIII, along with calcium and phospholipid, acts as a cofactor for F9/factor IXa when it converts F10/factor X to the activated form, factor Xa.

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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Fusion Gene Sequence for MECP2-F8


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 MECP2-F8


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 MECP2-F8


check button Drugs targeting genes involved in this fusion gene.
(DrugBank Version 5.1.8 2021-05-08)
PartnerGeneUniProtAccDrugBank IDDrug nameDrug activityDrug typeDrug status
TgeneF8P00451DB11312Protein CInactivatorBiotechApproved
TgeneF8P00451DB11312Protein CInactivatorBiotechApproved
TgeneF8P00451DB11571Human thrombinActivatorBiotechApproved
TgeneF8P00451DB11571Human thrombinActivatorBiotechApproved
TgeneF8P00451DB11572Thrombin alfaActivatorBiotechApproved
TgeneF8P00451DB11572Thrombin alfaActivatorBiotechApproved
TgeneF8P00451DB13152Coagulation Factor IX HumanCofactorBiotechApproved
TgeneF8P00451DB13152Coagulation Factor IX HumanCofactorBiotechApproved
TgeneF8P00451DB00100Coagulation Factor IX (Recombinant)CofactorBiotechApproved|Investigational
TgeneF8P00451DB00100Coagulation Factor IX (Recombinant)CofactorBiotechApproved|Investigational
TgeneF8P00451DB11300ThrombinActivatorBiotechApproved|Investigational
TgeneF8P00451DB11300ThrombinActivatorBiotechApproved|Investigational
TgeneF8P00451DB12872Vonicog AlfaStabilizationBiotechApproved|Investigational
TgeneF8P00451DB12872Vonicog AlfaStabilizationBiotechApproved|Investigational
TgeneF8P00451DB13133Von Willebrand Factor HumanStabilizationBiotechApproved|Investigational
TgeneF8P00451DB13133Von Willebrand Factor HumanStabilizationBiotechApproved|Investigational
TgeneF8P00451DB13151Anti-inhibitor coagulant complexAgonistBiotechApproved|Investigational
TgeneF8P00451DB13151Anti-inhibitor coagulant complexAgonistBiotechApproved|Investigational
TgeneF8P00451DB13933Nonacog beta pegolCofactorBiotechApproved|Investigational
TgeneF8P00451DB13933Nonacog beta pegolCofactorBiotechApproved|Investigational
TgeneF8P00451DB14700Damoctocog alfa pegolBinderBiotechApproved|Investigational
TgeneF8P00451DB14700Damoctocog alfa pegolBinderBiotechApproved|Investigational
TgeneF8P00451DB00055Drotrecogin alfaMultitargetBiotechApproved|Investigational|Withdrawn
TgeneF8P00451DB00055Drotrecogin alfaMultitargetBiotechApproved|Investigational|Withdrawn

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Related Diseases for MECP2-F8


check button Diseases associated with fusion partners.
(DisGeNet 4.0)
PartnerGeneDisease IDDisease name# pubmedsSource
HgeneMECP2C0035372Rett Syndrome50CLINGEN;CTD_human;GENOMICS_ENGLAND;UNIPROT
HgeneMECP2C1968550Mental Retardation, X-Linked, Syndromic 1311CTD_human;GENOMICS_ENGLAND;UNIPROT
HgeneMECP2C0024141Lupus Erythematosus, Systemic5ORPHANET
HgeneMECP2C0004352Autistic Disorder3CTD_human
HgeneMECP2C1968556ENCEPHALOPATHY, NEONATAL SEVERE, DUE TO MECP2 MUTATIONS3CTD_human;GENOMICS_ENGLAND;ORPHANET;UNIPROT
HgeneMECP2C0020796Profound Mental Retardation2CTD_human
HgeneMECP2C0025363Mental Retardation, Psychosocial2CTD_human
HgeneMECP2C0917816Mental deficiency2CTD_human
HgeneMECP2C1535926Neurodevelopmental Disorders2CTD_human
HgeneMECP2C2749007Chromosome Xq28 Duplication Syndrome2GENOMICS_ENGLAND
HgeneMECP2C3714756Intellectual Disability2CTD_human
HgeneMECP2C0003469Anxiety Disorders1CTD_human
HgeneMECP2C0008073Developmental Disabilities1CTD_human
HgeneMECP2C0008074Child Development Disorders, Pervasive1CTD_human
HgeneMECP2C0009171Cocaine Abuse1CTD_human
HgeneMECP2C0014544Epilepsy1CTD_human
HgeneMECP2C0021712Myoclonus, Intention1CTD_human
HgeneMECP2C0022333Jacksonian Seizure1CTD_human
HgeneMECP2C0023186Learning Disorders1CTD_human
HgeneMECP2C0026825Flaccid Muscle Tone1CTD_human
HgeneMECP2C0026827Muscle hypotonia1CTD_human
HgeneMECP2C0027066Myoclonus1CTD_human
HgeneMECP2C0030214Myoclonus, Palatal1CTD_human
HgeneMECP2C0033922Psychomotor Disorders1CTD_human
HgeneMECP2C0034069Pulmonary Fibrosis1CTD_human
HgeneMECP2C0035229Respiratory Insufficiency1CTD_human
HgeneMECP2C0036572Seizures1CTD_human
HgeneMECP2C0085996Child Development Deviations1CTD_human
HgeneMECP2C0085997Child Development Disorders, Specific1CTD_human
HgeneMECP2C0086237Epilepsy, Cryptogenic1CTD_human
HgeneMECP2C0149958Complex partial seizures1CTD_human
HgeneMECP2C0234533Generalized seizures1CTD_human
HgeneMECP2C0234535Clonic Seizures1CTD_human
HgeneMECP2C0235063Respiratory Depression1CTD_human
HgeneMECP2C0236018Aura1CTD_human
HgeneMECP2C0236736Cocaine-Related Disorders1CTD_human
HgeneMECP2C0270824Visual seizure1CTD_human
HgeneMECP2C0270844Tonic Seizures1CTD_human
HgeneMECP2C0270846Epileptic drop attack1CTD_human
HgeneMECP2C0376280Anxiety States, Neurotic1CTD_human
HgeneMECP2C0376634Craniofacial Abnormalities1CTD_human
HgeneMECP2C0422850Seizures, Somatosensory1CTD_human
HgeneMECP2C0422852Seizures, Auditory1CTD_human
HgeneMECP2C0422853Olfactory seizure1CTD_human
HgeneMECP2C0422854Gustatory seizure1CTD_human
HgeneMECP2C0422855Vertiginous seizure1CTD_human
HgeneMECP2C0424230Motor retardation1CTD_human
HgeneMECP2C0427201Floppy Muscles1CTD_human
HgeneMECP2C0427202Muscle Tone Atonic1CTD_human
HgeneMECP2C0494475Tonic - clonic seizures1CTD_human
HgeneMECP2C0524528Pervasive Development Disorder1CTD_human
HgeneMECP2C0585540Myoclonus, Oculopalatal1CTD_human
HgeneMECP2C0600427Cocaine Dependence1CTD_human
HgeneMECP2C0751056Non-epileptic convulsion1CTD_human
HgeneMECP2C0751110Single Seizure1CTD_human
HgeneMECP2C0751111Awakening Epilepsy1CTD_human
HgeneMECP2C0751123Atonic Absence Seizures1CTD_human
HgeneMECP2C0751262Adult Learning Disorders1CTD_human
HgeneMECP2C0751263Learning Disturbance1CTD_human
HgeneMECP2C0751265Learning Disabilities1CTD_human
HgeneMECP2C0751330Unilateral Hypotonia1CTD_human
HgeneMECP2C0751348Myoclonus Simplex1CTD_human
HgeneMECP2C0751349Myoclonus, Eyelid1CTD_human
HgeneMECP2C0751350Myoclonus, Lower Extremity1CTD_human
HgeneMECP2C0751351Myoclonus, Segmental1CTD_human
HgeneMECP2C0751352Myoclonus, Nocturnal1CTD_human
HgeneMECP2C0751353Myoclonus, Upper Extremity1CTD_human
HgeneMECP2C0751354Myoclonus, Action1CTD_human
HgeneMECP2C0751355Polymyoclonus1CTD_human
HgeneMECP2C0751456Developmental Psychomotor Disorders1CTD_human
HgeneMECP2C0751494Convulsive Seizures1CTD_human
HgeneMECP2C0751495Seizures, Focal1CTD_human
HgeneMECP2C0751496Seizures, Sensory1CTD_human
HgeneMECP2C1145670Respiratory Failure1CTD_human
HgeneMECP2C1279420Anxiety neurosis (finding)1CTD_human
HgeneMECP2C1330966Developmental Academic Disorder1CTD_human
HgeneMECP2C1846058Lubs X-linked mental retardation syndrome1CTD_human;GENOMICS_ENGLAND;ORPHANET
HgeneMECP2C2239176Liver carcinoma1CTD_human
HgeneMECP2C2267233Neonatal Hypotonia1CTD_human
HgeneMECP2C2931498Mental Retardation, X-Linked 11ORPHANET
HgeneMECP2C3495874Nonepileptic Seizures1CTD_human
HgeneMECP2C3713418Ppm-X Syndrome1ORPHANET
HgeneMECP2C4048158Convulsions1CTD_human
HgeneMECP2C4316903Absence Seizures1CTD_human
HgeneMECP2C4317109Epileptic Seizures1CTD_human
HgeneMECP2C4317123Myoclonic Seizures1CTD_human
HgeneMECP2C4505436Generalized Absence Seizures1CTD_human
HgeneMECP2C4721507Alveolitis, Fibrosing1CTD_human
TgeneF8C0019069Hemophilia A91CLINGEN;CTD_human;GENOMICS_ENGLAND;UNIPROT
TgeneF8C3494186Autosomal Hemophilia A2CTD_human
TgeneF8C3494187Factor VIII Deficiency2CTD_human
TgeneF8C0004364Autoimmune Diseases1CTD_human
TgeneF8C0042487Venous Thrombosis1CTD_human
TgeneF8C0149871Deep Vein Thrombosis1CTD_human
TgeneF8C0272325Factor 8 deficiency, acquired1CTD_human
TgeneF8C0398623Thrombophilia1CTD_human