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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: 17707

FusionGeneSummary for IRAK1_MECP2

check button Fusion gene summary
Fusion gene informationFusion gene name: IRAK1_MECP2
Fusion gene ID: 17707
HgeneTgene
Gene symbol

IRAK1

MECP2

Gene ID

3654

4204

Gene nameinterleukin 1 receptor associated kinase 1methyl-CpG binding protein 2
SynonymsIRAK|pelleAUTSX3|MRX16|MRX79|MRXS13|MRXSL|PPMX|RS|RTS|RTT
Cytomap

Xq28

Xq28

Type of geneprotein-codingprotein-coding
Descriptioninterleukin-1 receptor-associated kinase 1IRAK-1Pelle homologmethyl-CpG-binding protein 2meCp-2 proteintestis tissue sperm-binding protein Li 41a
Modification date2018052320180527
UniProtAcc

P51617

P51608

Ensembl transtripts involved in fusion geneENST00000369980, ENST00000369974, 
ENST00000393682, ENST00000477274, 
ENST00000429936, ENST00000393687, 
ENST00000303391, ENST00000453960, 
ENST00000407218, ENST00000460227, 
Fusion gene scores* DoF score1 X 1 X 1=15 X 4 X 3=60
# samples 15
** MAII scorelog2(1/1*10)=3.32192809488736log2(5/60*10)=-0.263034405833794
possibly effective Gene in Pan-Cancer Fusion Genes (peGinPCFGs).
DoF>8 and MAII<0
Context

PubMed: IRAK1 [Title/Abstract] AND MECP2 [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
HgeneIRAK1

GO:0007250

activation of NF-kappaB-inducing kinase activity

11397809

HgeneIRAK1

GO:0046777

protein autophosphorylation

10383454|12054681

HgeneIRAK1

GO:0051092

positive regulation of NF-kappaB transcription factor activity

10383454

TgeneMECP2

GO:0010629

negative regulation of gene expression

23960241

TgeneMECP2

GO:0043537

negative regulation of blood vessel endothelial cell migration

23960241

TgeneMECP2

GO:0045892

negative regulation of transcription, DNA-templated

11441023

TgeneMECP2

GO:1905643

positive regulation of DNA methylation

23960241


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
TCGALDBLCATCGA-GC-A3RD-01AIRAK1chrX

153283457

-MECP2chrX

153298008

-
* 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
Frame-shitENST00000369980ENST00000303391IRAK1chrX

153283457

-MECP2chrX

153298008

-
Frame-shitENST00000369980ENST00000453960IRAK1chrX

153283457

-MECP2chrX

153298008

-
Frame-shitENST00000369980ENST00000407218IRAK1chrX

153283457

-MECP2chrX

153298008

-
5CDS-5UTRENST00000369980ENST00000460227IRAK1chrX

153283457

-MECP2chrX

153298008

-
Frame-shitENST00000369974ENST00000303391IRAK1chrX

153283457

-MECP2chrX

153298008

-
Frame-shitENST00000369974ENST00000453960IRAK1chrX

153283457

-MECP2chrX

153298008

-
Frame-shitENST00000369974ENST00000407218IRAK1chrX

153283457

-MECP2chrX

153298008

-
5CDS-5UTRENST00000369974ENST00000460227IRAK1chrX

153283457

-MECP2chrX

153298008

-
Frame-shitENST00000393682ENST00000303391IRAK1chrX

153283457

-MECP2chrX

153298008

-
Frame-shitENST00000393682ENST00000453960IRAK1chrX

153283457

-MECP2chrX

153298008

-
Frame-shitENST00000393682ENST00000407218IRAK1chrX

153283457

-MECP2chrX

153298008

-
5CDS-5UTRENST00000393682ENST00000460227IRAK1chrX

153283457

-MECP2chrX

153298008

-
5UTR-3CDSENST00000477274ENST00000303391IRAK1chrX

153283457

-MECP2chrX

153298008

-
5UTR-3CDSENST00000477274ENST00000453960IRAK1chrX

153283457

-MECP2chrX

153298008

-
5UTR-3CDSENST00000477274ENST00000407218IRAK1chrX

153283457

-MECP2chrX

153298008

-
5UTR-5UTRENST00000477274ENST00000460227IRAK1chrX

153283457

-MECP2chrX

153298008

-
Frame-shitENST00000429936ENST00000303391IRAK1chrX

153283457

-MECP2chrX

153298008

-
Frame-shitENST00000429936ENST00000453960IRAK1chrX

153283457

-MECP2chrX

153298008

-
Frame-shitENST00000429936ENST00000407218IRAK1chrX

153283457

-MECP2chrX

153298008

-
5CDS-5UTRENST00000429936ENST00000460227IRAK1chrX

153283457

-MECP2chrX

153298008

-
Frame-shitENST00000393687ENST00000303391IRAK1chrX

153283457

-MECP2chrX

153298008

-
Frame-shitENST00000393687ENST00000453960IRAK1chrX

153283457

-MECP2chrX

153298008

-
Frame-shitENST00000393687ENST00000407218IRAK1chrX

153283457

-MECP2chrX

153298008

-
5CDS-5UTRENST00000393687ENST00000460227IRAK1chrX

153283457

-MECP2chrX

153298008

-

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FusionProtFeatures for IRAK1_MECP2


check buttonMain function of each fusion partner protein. (from UniProt)
HgeneTgene
IRAK1

P51617

MECP2

P51608

Serine/threonine-protein kinase that plays a criticalrole in initiating innate immune response against foreignpathogens. Involved in Toll-like receptor (TLR) and IL-1Rsignaling pathways. Is rapidly recruited by MYD88 to the receptor-signaling complex upon TLR activation. Association with MYD88leads to IRAK1 phosphorylation by IRAK4 and subsequentautophosphorylation and kinase activation. Phosphorylates E3ubiquitin ligases Pellino proteins (PELI1, PELI2 and PELI3) topromote pellino-mediated polyubiquitination of IRAK1. Then, theubiquitin-binding domain of IKBKG/NEMO binds to polyubiquitinatedIRAK1 bringing together the IRAK1-MAP3K7/TAK1-TRAF6 complex andthe NEMO-IKKA-IKKB complex. In turn, MAP3K7/TAK1 activates IKKs(CHUK/IKKA and IKBKB/IKKB) leading to NF-kappa-B nucleartranslocation and activation. Alternatively, phosphorylates TIRAPto promote its ubiquitination and subsequent degradation.Phosphorylates the interferon regulatory factor 7 (IRF7) to induceits activation and translocation to the nucleus, resulting intranscriptional activation of type I IFN genes, which drive thecell in an antiviral state. When sumoylated, translocates to thenucleus and phosphorylates STAT3. {ECO:0000269|PubMed:11397809,ECO:0000269|PubMed:12860405, ECO:0000269|PubMed:14684752,ECO:0000269|PubMed:15084582, ECO:0000269|PubMed:15465816,ECO:0000269|PubMed:15767370, ECO:0000269|PubMed:17997719,ECO:0000269|PubMed:20400509}. Chromosomal protein that binds to methylated DNA. It canbind specifically to a single methyl-CpG pair. It is notinfluenced by sequences flanking the methyl-CpGs. Mediatestranscriptional repression through interaction with histonedeacetylase and the corepressor SIN3A. Binds both 5-methylcytosine(5mC) and 5-hydroxymethylcytosine (5hmC)-containing DNA, with apreference for 5-methylcytosine (5mC).{ECO:0000250|UniProtKB:Q9Z2D6}.

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 IRAK1_MECP2


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 IRAK1_MECP2


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
IRAK1SIGIRR, AKT1, MYD88, IL1RAP, PRKCZ, SQSTM1, TRAF6, TOLLIP, IRAK1BP1, IKBKB, CHUK, TLR2, TIFA, IRAK4, ITGAM, IRAK1, IKBKG, PELI3, TAB2, PELI1, PELI2, BCL10, CAMKK2, CLN3, PPP2CA, MYC, TLR4, TLR9, TNFAIP3, MAP3K7, TRIM32, BAG3, ADCK3, CCDC47, IQSEC1, IRAK2, MAGED1, PJA1, PPP3CB, RHOT1, SNRNP200, TARDBP, TOMM70A, YTHDC2, IRAK3, IRF4, IRF7, TIRAP, SARM1, TMEM173, UNC93B1, RCAN1, IL1R1, MAPK14, CAV1, CUL3, TRAF4, BTRC, FBXW11, CUL1, HSP90AA1, CDC37, HSPA4, STIP1, HIST3H3, NLRP12, BTK, STAT3, PRKCD, STAT1, VASP, HSPA8, ST13, PINK1, IL1RL1, TNFRSF13B, MMS19, MAP3K3, SASH1, RNF31, NXF1, CCDC8, AIFM1, ATP1A1, ATP5B, BAG2, CALU, CCT2, CCT3, CCT4, CCT5, CCT6A, CCT7, CCT8, DNAJA1, DNAJA2, DNAJA3, EEF2, EMD, HLA-A, HNRNPF, HSPB1, IMMT, LMNA, RCN1, SEC16A, SLC25A10, SLC25A13, SLC2A1, SLC7A5, STUB1, TCP1, TIMM50, SSX2IP, CEP104, STIL, XPO1, CDH1, EGFR, OPTNMECP2PRPF40A, HMGB1, SKI, NCOR1, SIN3A, GTF2B, RCOR1, SUV39H1, HIST2H3A, DNMT1, HDAC1, PRPF40B, SPI1, SP1, SMARCA2, SMARCE1, SMARCB1, RBPJ, LBR, CBX5, CDKL5, YBX1, SP3, SOX2, YY1, TERF2, PPARG, ELAVL1, SMC3, CBX1, CBX3, HIST2H2AC, HIST2H2BE, HIST2H3C, HIST1H4F, XPC, CAT, HPDL, HIPK2, SOX18, HECW2, RNF4, SCARNA22, HIST1H2BG, HIST1H3A, CDC42, PLK1, AP4S1, EXOSC4, CHMP4B, H2AFY, CREB1, MAX, TEAD2, FOXC1, FOXE1, FOXI2, DNMT3L, HIST2H2BF, NOL8, EIF2AK2, URB1, C18orf21, TAF1D, RRP7A, NSD1, KPNA4, CENPV, URB2, HIST1H1T, C10orf2, KPNA3, PDCD11, DDX51, SRBD1, TFB1M, BAZ1A, ZNF800, GTPBP10, BLM, TRIP12, CHMP1A, RBAK, ITGB3BP, C3orf17, TEX10, TRMT1L, GTPBP4, ZCCHC17, TAF1B, RPL13, WDR36, PWP2, CEBPZ, HIRA, NOP2, DDX54, GNL2, MKI67, MINA, DGCR8, RPL18, FCF1, RPS8, METAP2, DDX31, TAF1A, DDX24, RPL7A, NOL6, RPL8, RPP40, RPL10A, NOC2L, MYBBP1A, RPF2, ZNF483, NVL, LENG8, TAF1C, NAT10, SRSF8, RPL3, RPLP2, ESF1, RPL36, BBX, C11orf57, BRIX1, RPL32, RPL29, RPL12, RRP1B, ZNF593, DDX56, ZNF354A, RBM28, RPL26L1, RPL15, RRP8, NLE1, RPL27, RPL5, TOP3A, FXR2, C9orf114, NOP16, SDAD1, DDX21, RPL17


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 IRAK1_MECP2


check button Drugs targeting genes involved in this fusion gene.
(DrugBank Version 5.1.0 2018-04-02)
PartnerGeneUniProtAccDrugBank IDDrug nameDrug activityDrug typeDrug status

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RelatedDiseases for IRAK1_MECP2


check button Diseases associated with fusion partners.
(DisGeNet 4.0)
PartnerGeneDisease IDDisease name# pubmedsSource
HgeneIRAK1C0003873Rheumatoid Arthritis1CTD_human
HgeneIRAK1C0752308Hypoxia-Ischemia, Brain1CTD_human
HgeneIRAK1C1956346Coronary Artery Disease1CTD_human
TgeneMECP2C0035372Rett Syndrome35CTD_human;ORPHANET;UNIPROT
TgeneMECP2C1968550Mental Retardation, X-Linked, Syndromic 139CTD_human;ORPHANET;UNIPROT
TgeneMECP2C0004352Autistic Disorder3CTD_human;HPO
TgeneMECP2C3714756Intellectual Disability2CTD_human;HPO
TgeneMECP2C0003469Anxiety Disorders1CTD_human
TgeneMECP2C0008073Developmental Disabilities1CTD_human
TgeneMECP2C0008074Child Development Disorders, Pervasive1CTD_human
TgeneMECP2C0023186Learning Disorders1CTD_human
TgeneMECP2C0026827Muscle hypotonia1CTD_human
TgeneMECP2C0027066Myoclonus1CTD_human;HPO
TgeneMECP2C0033922Psychomotor Disorders1CTD_human
TgeneMECP2C0034069Pulmonary Fibrosis1CTD_human
TgeneMECP2C0035229Respiratory Insufficiency1CTD_human;HPO
TgeneMECP2C0036572Seizures1CTD_human;HPO
TgeneMECP2C0236736Cocaine-Related Disorders1CTD_human
TgeneMECP2C0376634Craniofacial Abnormalities1CTD_human
TgeneMECP2C2239176Liver carcinoma1CTD_human