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Fusion gene ID: 2526 |
FusionGeneSummary for ARHGEF16_ITK |
 Fusion gene summary |
| Fusion gene information | Fusion gene name: ARHGEF16_ITK | Fusion gene ID: 2526 | Hgene | Tgene | Gene symbol | ARHGEF16 | ITK | Gene ID | 27237 | 3702 |
| Gene name | Rho guanine nucleotide exchange factor 16 | IL2 inducible T cell kinase | |
| Synonyms | GEF16|NBR | EMT|LPFS1|LYK|PSCTK2 | |
| Cytomap | 1p36.32 | 5q33.3 | |
| Type of gene | protein-coding | protein-coding | |
| Description | rho guanine nucleotide exchange factor 16Rho guanine exchange factor (GEF) 16Rho guanine nucleotide exchange factor (GEF) 16ephexin-4ephexin4 | tyrosine-protein kinase ITK/TSKIL-2-inducible T-cell kinaseT-cell-specific kinasehomolog of mouse T-cell itk/tskinterleukin-2-inducible T-cell kinasekinase EMTtyrosine-protein kinase LYK | |
| Modification date | 20180522 | 20180523 | |
| UniProtAcc | Q5VV41 | Q08881 | |
| Ensembl transtripts involved in fusion gene | ENST00000378378, ENST00000378373, ENST00000378371, ENST00000413250, | ENST00000422843, ENST00000519749, | |
| Fusion gene scores | * DoF score | 1 X 1 X 1=1 | 2 X 2 X 2=8 |
| # samples | 1 | 2 | |
| ** MAII score | log2(1/1*10)=3.32192809488736 | log2(2/8*10)=1.32192809488736 | |
| Context | PubMed: ARHGEF16 [Title/Abstract] AND ITK [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 | ARHGEF16 | GO:0090630 | activation of GTPase activity | 21139582 |
| 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 | RV | PAAD | TCGA-3A-A9IH-01A | ARHGEF16 | chr1 | 3371375 | + | ITK | chr5 | 156670633 | + |
| * 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 |
| 5UTR-3CDS | ENST00000378378 | ENST00000422843 | ARHGEF16 | chr1 | 3371375 | + | ITK | chr5 | 156670633 | + |
| 5UTR-3UTR | ENST00000378378 | ENST00000519749 | ARHGEF16 | chr1 | 3371375 | + | ITK | chr5 | 156670633 | + |
| intron-3CDS | ENST00000378373 | ENST00000422843 | ARHGEF16 | chr1 | 3371375 | + | ITK | chr5 | 156670633 | + |
| intron-3UTR | ENST00000378373 | ENST00000519749 | ARHGEF16 | chr1 | 3371375 | + | ITK | chr5 | 156670633 | + |
| intron-3CDS | ENST00000378371 | ENST00000422843 | ARHGEF16 | chr1 | 3371375 | + | ITK | chr5 | 156670633 | + |
| intron-3UTR | ENST00000378371 | ENST00000519749 | ARHGEF16 | chr1 | 3371375 | + | ITK | chr5 | 156670633 | + |
| intron-3CDS | ENST00000413250 | ENST00000422843 | ARHGEF16 | chr1 | 3371375 | + | ITK | chr5 | 156670633 | + |
| intron-3UTR | ENST00000413250 | ENST00000519749 | ARHGEF16 | chr1 | 3371375 | + | ITK | chr5 | 156670633 | + |
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FusionProtFeatures for ARHGEF16_ITK |
| Main function of each fusion partner protein. (from UniProt) |
| Hgene | Tgene |
| ARHGEF16 | ITK |
| Guanyl-nucleotide exchange factor of the RHOG GTPasestimulating the exchange of RHOG-associated GDP for GTP. May playa role in chemotactic cell migration by mediating the activationof RAC1 by EPHA2. May also activate CDC42 and mediate activationof CDC42 by the viral protein HPV16 E6.{ECO:0000269|PubMed:20679435}. | Tyrosine kinase that plays an essential role inregulation of the adaptive immune response. Regulates thedevelopment, function and differentiation of conventional T-cellsand nonconventional NKT-cells. When antigen presenting cells (APC)activate T-cell receptor (TCR), a series of phosphorylation leadto the recruitment of ITK to the cell membrane, in the vicinity ofthe stimulated TCR receptor, where it is phosphorylated by LCK.Phosphorylation leads to ITK autophosphorylation and fullactivation. Once activated, phosphorylates PLCG1, leading to theactivation of this lipase and subsequent cleavage of itssubstrates. In turn, the endoplasmic reticulum releases calcium inthe cytoplasm and the nuclear activator of activated T-cells(NFAT) translocates into the nucleus to perform itstranscriptional duty. Phosphorylates 2 essential adapter proteins:the linker for activation of T-cells/LAT protein and LCP2. Then, alarge number of signaling molecules such as VAV1 are recruited andultimately lead to lymphokine production, T-cell proliferation anddifferentiation (PubMed:12186560, PubMed:12682224,PubMed:21725281). Phosphorylates TBX21 at 'Tyr-530' and mediatesits interaction with GATA3 (By similarity).{ECO:0000250|UniProtKB:Q03526, ECO:0000269|PubMed:12186560,ECO:0000269|PubMed:12682224, ECO:0000269|PubMed:21725281}. |
| 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 ARHGEF16_ITK |
| 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 ARHGEF16_ITK |
| 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 |
| ARHGEF16 | SFN, LNX1, YWHAQ, TFG, MAPK1IP1L, ELMO1, CDH1, ATP1A2, DPP8, UBAC1, PRKCI, IFT122, PML, HSPA8, LMNA | ITK | LCP2, KPNA2, SOCS1, PPIA, WAS, LAT, PLCG1, CD2, FYN, SRC, GRB2, KHDRBS1, ITK, HNRNPK, CBL, IKBKG, FASLG, IBTK, FGFR1, DOK1, HSP90AA1, ERBB2, ERBB3, SPRR2A, FUS, EGFR, NSUN6, SMURF1, HSP90AB3P, HSP90AA5P, DYNC1I2, HSP90AB1, GAPDHS, CDC37 |
| - 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 ARHGEF16_ITK |
| 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 | ITK | Q08881 | DB06589 | Pazopanib | Tyrosine-protein kinase ITK/TSK | small molecule | approved |
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RelatedDiseases for ARHGEF16_ITK |
| Diseases associated with fusion partners. (DisGeNet 4.0) |
| Partner | Gene | Disease ID | Disease name | # pubmeds | Source |
| Tgene | ITK | C3552634 | LYMPHOPROLIFERATIVE SYNDROME 1 | 1 | UNIPROT |
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