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Fusion gene ID: 2778 |
FusionGeneSummary for ARMCX4_BTK |
 Fusion gene summary |
| Fusion gene information | Fusion gene name: ARMCX4_BTK | Fusion gene ID: 2778 | Hgene | Tgene | Gene symbol | ARMCX4 | BTK | Gene ID | 100131755 | 695 |
| Gene name | armadillo repeat containing X-linked 4 | Bruton tyrosine kinase | |
| Synonyms | CXorf35|GASP4 | AGMX1|AT|ATK|BPK|IMD1|PSCTK1|XLA | |
| Cytomap | Xq22.1 | Xq22.1 | |
| Type of gene | protein-coding | protein-coding | |
| Description | armadillo repeat-containing X-linked protein 4armadillo repeat containing, X-linked 4 pseudogene | tyrosine-protein kinase BTKB-cell progenitor kinaseBruton agammaglobulinemia tyrosine kinaseBruton's tyrosine kinaseagammaglobulinaemia tyrosine kinasedominant-negative kinase-deficient Brutons tyrosine kinasetruncated Bruton agammaglobulinemia tyro | |
| Modification date | 20180519 | 20180523 | |
| UniProtAcc | Q5H9R4 | Q06187 | |
| Ensembl transtripts involved in fusion gene | ENST00000431677, ENST00000423738, | ENST00000372880, ENST00000308731, ENST00000464567, | |
| Fusion gene scores | * DoF score | 2 X 2 X 2=8 | 1 X 1 X 1=1 |
| # samples | 2 | 1 | |
| ** MAII score | log2(2/8*10)=1.32192809488736 | log2(1/1*10)=3.32192809488736 | |
| Context | PubMed: ARMCX4 [Title/Abstract] AND BTK [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 |
| Tgene | BTK | GO:0018108 | peptidyl-tyrosine phosphorylation | 11606584 |
| 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 | LIHC | TCGA-DD-AAEH-01A | ARMCX4 | chrX | 100673988 | + | BTK | chrX | 100626689 | - |
| * 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 |
| 3UTR-3CDS | ENST00000431677 | ENST00000372880 | ARMCX4 | chrX | 100673988 | + | BTK | chrX | 100626689 | - |
| 3UTR-3CDS | ENST00000431677 | ENST00000308731 | ARMCX4 | chrX | 100673988 | + | BTK | chrX | 100626689 | - |
| 3UTR-intron | ENST00000431677 | ENST00000464567 | ARMCX4 | chrX | 100673988 | + | BTK | chrX | 100626689 | - |
| intron-3CDS | ENST00000423738 | ENST00000372880 | ARMCX4 | chrX | 100673988 | + | BTK | chrX | 100626689 | - |
| intron-3CDS | ENST00000423738 | ENST00000308731 | ARMCX4 | chrX | 100673988 | + | BTK | chrX | 100626689 | - |
| intron-intron | ENST00000423738 | ENST00000464567 | ARMCX4 | chrX | 100673988 | + | BTK | chrX | 100626689 | - |
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FusionProtFeatures for ARMCX4_BTK |
| Main function of each fusion partner protein. (from UniProt) |
| Hgene | Tgene |
| ARMCX4 | BTK |
| Non-receptor tyrosine kinase indispensable for Blymphocyte development, differentiation and signaling. Binding ofantigen to the B-cell antigen receptor (BCR) triggers signalingthat ultimately leads to B-cell activation. After BCR engagementand activation at the plasma membrane, phosphorylates PLCG2 atseveral sites, igniting the downstream signaling pathway throughcalcium mobilization, followed by activation of the protein kinaseC (PKC) family members. PLCG2 phosphorylation is performed inclose cooperation with the adapter protein B-cell linker proteinBLNK. BTK acts as a platform to bring together a diverse array ofsignaling proteins and is implicated in cytokine receptorsignaling pathways. Plays an important role in the function ofimmune cells of innate as well as adaptive immunity, as acomponent of the Toll-like receptors (TLR) pathway. The TLRpathway acts as a primary surveillance system for the detection ofpathogens and are crucial to the activation of host defense.Especially, is a critical molecule in regulating TLR9 activationin splenic B-cells. Within the TLR pathway, induces tyrosinephosphorylation of TIRAP which leads to TIRAP degradation. BTKplays also a critical role in transcription regulation. Inducesthe activity of NF-kappa-B, which is involved in regulating theexpression of hundreds of genes. BTK is involved on the signalingpathway linking TLR8 and TLR9 to NF-kappa-B. Transientlyphosphorylates transcription factor GTF2I on tyrosine residues inresponse to BCR. GTF2I then translocates to the nucleus to bindregulatory enhancer elements to modulate gene expression. ARID3Aand NFAT are other transcriptional target of BTK. BTK is requiredfor the formation of functional ARID3A DNA-binding complexes.There is however no evidence that BTK itself binds directly toDNA. BTK has a dual role in the regulation of apoptosis.{ECO:0000269|PubMed:11606584, ECO:0000269|PubMed:16415872,ECO:0000269|PubMed:16517732, ECO:0000269|PubMed:16738337,ECO:0000269|PubMed:17932028, ECO:0000269|PubMed:9012831}. |
| 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 ARMCX4_BTK |
| 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 ARMCX4_BTK |
| 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 |
| ARMCX4 | DPAGT1 | BTK | ARID3A, GTF2I, PRKCB, SH3BP5, CAV1, JAK1, PRKD1, KHDRBS1, VAV1, EWSR1, WAS, RPS6KB1, RPS6KB2, FYN, LYN, HCK, ARHGAP17, CBL, IBTK, BLNK, PLCG2, CBLB, GNAQ, BTK, GRB2, BCL2L11, MYC, FASLG, TLR8, TLR4, TLR6, TLR9, MYD88, TIRAP, IRAK1, GNB1, SYK, APP, STAT5A, RPS3, AFG3L2, ACTA1, ACTN1, ATP5A1, ATP5B, POTEKP, CORO1C, DDX3X, DBN1, EEF1A2, FLNA, GAPDH, HRNR, KRT5, MYLK2, NDUFS1, SFPQ, SPTA1, HADHA, TUBA4A, TUBB4B, TWF1, MED28, HSP90AA1, PLAU, ARRB1, MPP7, PIK3R3, BECN1, MRPS22, SMURF1, AURKA, HSP90AB3P, ANKRD54, TTC9C, MAP3K4, CDC37, KATNB1 |
| - 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 ARMCX4_BTK |
| 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 |
| Tgene | BTK | Q06187 | DB09053 | Ibrutinib | Tyrosine-protein kinase BTK | small molecule | approved |
| Tgene | BTK | Q06187 | DB01254 | Dasatinib | Tyrosine-protein kinase BTK | small molecule | approved|investigational |
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RelatedDiseases for ARMCX4_BTK |
| Diseases associated with fusion partners. (DisGeNet 4.0) |
| Partner | Gene | Disease ID | Disease name | # pubmeds | Source |
| Tgene | BTK | C0221026 | X-linked agammaglobulinemia | 21 | CTD_human;ORPHANET;UNIPROT |
| Tgene | BTK | C0001768 | Agammaglobulinemia | 1 | CTD_human;HPO |
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