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Fusion gene ID: 15893 |
FusionGeneSummary for HCFC1_IRAK1 |
 Fusion gene summary |
| Fusion gene information | Fusion gene name: HCFC1_IRAK1 | Fusion gene ID: 15893 | Hgene | Tgene | Gene symbol | HCFC1 | IRAK1 | Gene ID | 3054 | 3654 |
| Gene name | host cell factor C1 | interleukin 1 receptor associated kinase 1 | |
| Synonyms | CFF|HCF|HCF-1|HCF1|HFC1|MRX3|PPP1R89|VCAF | IRAK|pelle | |
| Cytomap | Xq28 | Xq28 | |
| Type of gene | protein-coding | protein-coding | |
| Description | host cell factor 1VP16-accessory proteinprotein phosphatase 1, regulatory subunit 89 | interleukin-1 receptor-associated kinase 1IRAK-1Pelle homolog | |
| Modification date | 20180522 | 20180523 | |
| UniProtAcc | P51610 | P51617 | |
| Ensembl transtripts involved in fusion gene | ENST00000310441, ENST00000369984, ENST00000354233, ENST00000461098, | ENST00000369980, ENST00000369974, ENST00000393682, ENST00000477274, ENST00000429936, ENST00000393687, | |
| Fusion gene scores | * DoF score | 6 X 7 X 4=168 | 2 X 2 X 2=8 |
| # samples | 7 | 2 | |
| ** MAII score | log2(7/168*10)=-1.26303440583379 possibly effective Gene in Pan-Cancer Fusion Genes (peGinPCFGs). DoF>8 and MAII<0 | log2(2/8*10)=1.32192809488736 | |
| Context | PubMed: HCFC1 [Title/Abstract] AND IRAK1 [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) |
| Gene ontology of each fusion partner gene with evidence of Inferred from Direct Assay (IDA) from Entrez |
| Partner | Gene | GO ID | GO term | PubMed ID |
| Hgene | HCFC1 | GO:0006355 | regulation of transcription, DNA-templated | 12670868 |
| Hgene | HCFC1 | GO:0010628 | positive regulation of gene expression | 21285374 |
| Hgene | HCFC1 | GO:0043254 | regulation of protein complex assembly | 10675337 |
| Hgene | HCFC1 | GO:0043981 | histone H4-K5 acetylation | 20018852 |
| Hgene | HCFC1 | GO:0043982 | histone H4-K8 acetylation | 20018852 |
| Hgene | HCFC1 | GO:0043984 | histone H4-K16 acetylation | 20018852 |
| Hgene | HCFC1 | GO:0050821 | protein stabilization | 21285374 |
| Tgene | IRAK1 | GO:0007250 | activation of NF-kappaB-inducing kinase activity | 11397809 |
| Tgene | IRAK1 | GO:0046777 | protein autophosphorylation | 10383454|12054681 |
| Tgene | IRAK1 | GO:0051092 | positive regulation of NF-kappaB transcription factor activity | 10383454 |
| 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 type | Source | Cancer type | Sample | Hgene | Hchr | Hbp | Hstrand | Tgene | Tchr | Tbp | Tstrand |
| TCGA | LD | BRCA | TCGA-AQ-A54N-01A | HCFC1 | chrX | 153216264 | - | IRAK1 | chrX | 153283571 | - |
| * LD: Li Ding group's fusion gene list RV: Roel Verhaak group's fusion gene list ChiTaRs fusion database |
| 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. |
| ORF | Henst | Tenst | Hgene | Hchr | Hbp | Hstrand | Tgene | Tchr | Tbp | Tstrand |
| Frame-shift | ENST00000310441 | ENST00000369980 | HCFC1 | chrX | 153216264 | - | IRAK1 | chrX | 153283571 | - |
| Frame-shift | ENST00000310441 | ENST00000369974 | HCFC1 | chrX | 153216264 | - | IRAK1 | chrX | 153283571 | - |
| Frame-shift | ENST00000310441 | ENST00000393682 | HCFC1 | chrX | 153216264 | - | IRAK1 | chrX | 153283571 | - |
| 5CDS-5UTR | ENST00000310441 | ENST00000477274 | HCFC1 | chrX | 153216264 | - | IRAK1 | chrX | 153283571 | - |
| 5CDS-5UTR | ENST00000310441 | ENST00000429936 | HCFC1 | chrX | 153216264 | - | IRAK1 | chrX | 153283571 | - |
| 5CDS-5UTR | ENST00000310441 | ENST00000393687 | HCFC1 | chrX | 153216264 | - | IRAK1 | chrX | 153283571 | - |
| Frame-shift | ENST00000369984 | ENST00000369980 | HCFC1 | chrX | 153216264 | - | IRAK1 | chrX | 153283571 | - |
| Frame-shift | ENST00000369984 | ENST00000369974 | HCFC1 | chrX | 153216264 | - | IRAK1 | chrX | 153283571 | - |
| Frame-shift | ENST00000369984 | ENST00000393682 | HCFC1 | chrX | 153216264 | - | IRAK1 | chrX | 153283571 | - |
| 5CDS-5UTR | ENST00000369984 | ENST00000477274 | HCFC1 | chrX | 153216264 | - | IRAK1 | chrX | 153283571 | - |
| 5CDS-5UTR | ENST00000369984 | ENST00000429936 | HCFC1 | chrX | 153216264 | - | IRAK1 | chrX | 153283571 | - |
| 5CDS-5UTR | ENST00000369984 | ENST00000393687 | HCFC1 | chrX | 153216264 | - | IRAK1 | chrX | 153283571 | - |
| Frame-shift | ENST00000354233 | ENST00000369980 | HCFC1 | chrX | 153216264 | - | IRAK1 | chrX | 153283571 | - |
| Frame-shift | ENST00000354233 | ENST00000369974 | HCFC1 | chrX | 153216264 | - | IRAK1 | chrX | 153283571 | - |
| Frame-shift | ENST00000354233 | ENST00000393682 | HCFC1 | chrX | 153216264 | - | IRAK1 | chrX | 153283571 | - |
| 5CDS-5UTR | ENST00000354233 | ENST00000477274 | HCFC1 | chrX | 153216264 | - | IRAK1 | chrX | 153283571 | - |
| 5CDS-5UTR | ENST00000354233 | ENST00000429936 | HCFC1 | chrX | 153216264 | - | IRAK1 | chrX | 153283571 | - |
| 5CDS-5UTR | ENST00000354233 | ENST00000393687 | HCFC1 | chrX | 153216264 | - | IRAK1 | chrX | 153283571 | - |
| intron-3CDS | ENST00000461098 | ENST00000369980 | HCFC1 | chrX | 153216264 | - | IRAK1 | chrX | 153283571 | - |
| intron-3CDS | ENST00000461098 | ENST00000369974 | HCFC1 | chrX | 153216264 | - | IRAK1 | chrX | 153283571 | - |
| intron-3CDS | ENST00000461098 | ENST00000393682 | HCFC1 | chrX | 153216264 | - | IRAK1 | chrX | 153283571 | - |
| intron-5UTR | ENST00000461098 | ENST00000477274 | HCFC1 | chrX | 153216264 | - | IRAK1 | chrX | 153283571 | - |
| intron-5UTR | ENST00000461098 | ENST00000429936 | HCFC1 | chrX | 153216264 | - | IRAK1 | chrX | 153283571 | - |
| intron-5UTR | ENST00000461098 | ENST00000393687 | HCFC1 | chrX | 153216264 | - | IRAK1 | chrX | 153283571 | - |
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FusionProtFeatures for HCFC1_IRAK1 |
| Main function of each fusion partner protein. (from UniProt) |
| Hgene | Tgene |
| HCFC1 | IRAK1 |
| Involved in control of the cell cycle (PubMed:10629049,PubMed:10779346, PubMed:15190068, PubMed:16624878,PubMed:23629655). Also antagonizes transactivation by ZBTB17 andGABP2; represses ZBTB17 activation of the p15(INK4b) promoter andinhibits its ability to recruit p300 (PubMed:10675337,PubMed:12244100). Coactivator for EGR2 and GABP2 (PubMed:12244100,PubMed:14532282). Tethers the chromatin modifying Set1/Ash2histone H3 'Lys-4' methyltransferase (H3K4me) and Sin3 histonedeacetylase (HDAC) complexes (involved in the activation andrepression of transcription, respectively) together(PubMed:12670868). Component of a THAP1/THAP3-HCFC1-OGT complexthat is required for the regulation of the transcriptionalactivity of RRM1 (PubMed:20200153). As part of the NSL complex itmay be involved in acetylation of nucleosomal histone H4 onseveral lysine residues (PubMed:20018852). Recruits KMT2E/MLL5 toE2F1 responsive promoters promoting transcriptional activation andthereby facilitates G1 to S phase transition (PubMed:23629655).{ECO:0000269|PubMed:10629049, ECO:0000269|PubMed:10675337,ECO:0000269|PubMed:10779346, ECO:0000269|PubMed:12244100,ECO:0000269|PubMed:12670868, ECO:0000269|PubMed:14532282,ECO:0000269|PubMed:15190068, ECO:0000269|PubMed:16624878,ECO:0000269|PubMed:20018852, ECO:0000269|PubMed:20200153,ECO:0000269|PubMed:23629655}. (Microbial infection) In case of human herpes simplexvirus (HSV) infection, HCFC1 forms a multiprotein-DNA complex withthe viral transactivator protein VP16 and POU2F1 thereby enablingthe transcription of the viral immediate early genes.{ECO:0000269|PubMed:10629049, ECO:0000269|PubMed:17578910}. | 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}. |
| Retention 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 . * 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. |
| Partner | Gene | Hbp | Tbp | ENST | Strand | BPexon | TotalExon | Protein feature loci | *BPloci | TotalLen | Protein feature | Protein feature note |
| - In-frame and not-retained protein feature among the 13 regional features. |
| Partner | Gene | Hbp | Tbp | ENST | Strand | BPexon | TotalExon | Protein feature loci | *BPloci | TotalLen | Protein feature | Protein feature note |
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FusionGeneSequence for HCFC1_IRAK1 |
| 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 HCFC1_IRAK1 |
| Go to ChiPPI (Chimeric Protein-Protein interactions) to see the chimeric PPI interaction in . |
| Protein-protein interactors with each fusion partner protein in wild-type (BIOGRID-3.4.160) |
| Hgene | Hgene's interactors | Tgene | Tgene's interactors |
| HCFC1 | GABPA, KMT2A, HCFC2, MEN1, RBBP5, WDR5, ASH2L, SIN3A, EGR2, HDAC1, HDAC2, SUDS3, RBBP4, RBBP7, SETD1A, ASCL2, OGT, HSP90AA1, HSPA4, HSPA8, SP1, SIN3B, PDCD2, CREB3, CREBZF, PPP1CA, PPARGC1A, HCFC1R1, POU2F1, ZBTB17, BAP1, USP53, POLR2J, THAP3, THAP1, ASF1B, ZNF335, NFE2L1, THAP7, KAT8, USF1, E2F1, E2F3, E2F4, PHF8, WDR82, HDAC5, IRF1, IRF2, THAP11, YY1, SNRPB, SNRPN, ELAVL1, SIRT7, NR2C1, CUL3, CDK2, HCFC1, CLP1, EGFR, PPP1CB, DPY30, MAP3K7, NOTCH1, LMNA, EEF1D, RPA3, RPA2, RPA1, NUDCD3, FBXW11, CXXC1, NCOA6, EED, BTRC, THAP2, DDAH2, ALDOC, EEF2, PSMD7, TRIM28, NTRK1, DYNLT1, MPHOSPH8, FOXK1, FOXK2, FOXN2, ASXL1, ASXL2, KMT2E, KLF5, CDH1, CAMK2D, NFE2L3, FOXRED1, BRCA1 | IRAK1 | SIGIRR, 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, OPTN |
| - Retained PPIs in in-frame fusion. |
| Partner | Gene | Hbp | Tbp | ENST | Strand | BPexon | TotalExon | Protein feature loci | *BPloci | TotalLen | Still interaction with |
| - Lost PPIs in in-frame fusion. |
| Partner | Gene | Hbp | Tbp | ENST | Strand | BPexon | TotalExon | Protein feature loci | *BPloci | TotalLen | Interaction lost with |
| - Retained PPIs, but lost function due to frame-shift fusion. |
| Partner | Gene | Hbp | Tbp | ENST | Strand | BPexon | TotalExon | Protein feature loci | *BPloci | TotalLen | Interaction lost with |
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RelatedDrugs for HCFC1_IRAK1 |
| Drugs targeting genes involved in this fusion gene. (DrugBank Version 5.1.0 2018-04-02) |
| Partner | Gene | UniProtAcc | DrugBank ID | Drug name | Drug activity | Drug type | Drug status |
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RelatedDiseases for HCFC1_IRAK1 |
| Diseases associated with fusion partners. (DisGeNet 4.0) |
| Partner | Gene | Disease ID | Disease name | # pubmeds | Source |
| Hgene | HCFC1 | C0023903 | Liver neoplasms | 1 | CTD_human |
| Hgene | HCFC1 | C0796208 | MENTAL RETARDATION, X-LINKED 3 | 1 | ORPHANET;UNIPROT |
| Tgene | IRAK1 | C0003873 | Rheumatoid Arthritis | 1 | CTD_human |
| Tgene | IRAK1 | C0752308 | Hypoxia-Ischemia, Brain | 1 | CTD_human |
| Tgene | IRAK1 | C1956346 | Coronary Artery Disease | 1 | CTD_human |
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