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Fusion gene ID: 34256 |
FusionGeneSummary for SLC25A44_RIPK2 |
 Fusion gene summary |
| Fusion gene information | Fusion gene name: SLC25A44_RIPK2 | Fusion gene ID: 34256 | Hgene | Tgene | Gene symbol | SLC25A44 | RIPK2 | Gene ID | 9673 | 8767 |
| Gene name | solute carrier family 25 member 44 | receptor interacting serine/threonine kinase 2 | |
| Synonyms | - | CARD3|CARDIAK|CCK|GIG30|RICK|RIP2 | |
| Cytomap | 1q22 | 8q21.3 | |
| Type of gene | protein-coding | protein-coding | |
| Description | solute carrier family 25 member 44 | receptor-interacting serine/threonine-protein kinase 2CARD-carrying kinaseCARD-containing IL-1 beta ICE-kinaseCARD-containing interleukin-1 beta-converting enzyme (ICE)-associated kinaseRIP-2growth-inhibiting gene 30receptor-interacting protein (RIP | |
| Modification date | 20180522 | 20180523 | |
| UniProtAcc | Q96H78 | O43353 | |
| Ensembl transtripts involved in fusion gene | ENST00000359511, ENST00000423538, ENST00000469537, | ENST00000220751, ENST00000540020, | |
| Fusion gene scores | * DoF score | 10 X 5 X 5=250 | 3 X 5 X 5=75 |
| # samples | 10 | 5 | |
| ** MAII score | log2(10/250*10)=-1.32192809488736 possibly effective Gene in Pan-Cancer Fusion Genes (peGinPCFGs). DoF>8 and MAII<0 | log2(5/75*10)=-0.584962500721156 possibly effective Gene in Pan-Cancer Fusion Genes (peGinPCFGs). DoF>8 and MAII<0 | |
| Context | PubMed: SLC25A44 [Title/Abstract] AND RIPK2 [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 | RIPK2 | GO:0010800 | positive regulation of peptidyl-threonine phosphorylation | 21887730 |
| Tgene | RIPK2 | GO:0010942 | positive regulation of cell death | 16920334 |
| Tgene | RIPK2 | GO:0033138 | positive regulation of peptidyl-serine phosphorylation | 21887730 |
| Tgene | RIPK2 | GO:0034134 | toll-like receptor 2 signaling pathway | 11894098 |
| Tgene | RIPK2 | GO:0043123 | positive regulation of I-kappaB kinase/NF-kappaB signaling | 10329646 |
| Tgene | RIPK2 | GO:0045087 | innate immune response | 23806334 |
| Tgene | RIPK2 | GO:0050718 | positive regulation of interleukin-1 beta secretion | 11432859 |
| Tgene | RIPK2 | GO:0050731 | positive regulation of peptidyl-tyrosine phosphorylation | 21887730 |
| Tgene | RIPK2 | GO:0051092 | positive regulation of NF-kappaB transcription factor activity | 11821383 |
| Tgene | RIPK2 | GO:0070431 | nucleotide-binding oligomerization domain containing 2 signaling pathway | 23806334 |
| Tgene | RIPK2 | GO:0071225 | cellular response to muramyl dipeptide | 21887730 |
| Tgene | RIPK2 | GO:0097202 | activation of cysteine-type endopeptidase activity | 11821383 |
| 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 |
| ChiTaRS3.1 | BM929466 | SLC25A44 | chr1 | 156182470 | - | RIPK2 | chr8 | 90803215 | + |
| * 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-3UTR | ENST00000359511 | ENST00000220751 | SLC25A44 | chr1 | 156182470 | - | RIPK2 | chr8 | 90803215 | + |
| 3UTR-intron | ENST00000359511 | ENST00000540020 | SLC25A44 | chr1 | 156182470 | - | RIPK2 | chr8 | 90803215 | + |
| intron-3UTR | ENST00000423538 | ENST00000220751 | SLC25A44 | chr1 | 156182470 | - | RIPK2 | chr8 | 90803215 | + |
| intron-intron | ENST00000423538 | ENST00000540020 | SLC25A44 | chr1 | 156182470 | - | RIPK2 | chr8 | 90803215 | + |
| 3UTR-3UTR | ENST00000469537 | ENST00000220751 | SLC25A44 | chr1 | 156182470 | - | RIPK2 | chr8 | 90803215 | + |
| 3UTR-intron | ENST00000469537 | ENST00000540020 | SLC25A44 | chr1 | 156182470 | - | RIPK2 | chr8 | 90803215 | + |
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FusionProtFeatures for SLC25A44_RIPK2 |
| Main function of each fusion partner protein. (from UniProt) |
| Hgene | Tgene |
| SLC25A44 | RIPK2 |
| Serine/threonine/tyrosine kinase that plays an essentialrole in modulation of innate and adaptive immune responses. Uponstimulation by bacterial peptidoglycans, NOD1 and NOD2 areactivated, oligomerize and recruit RIPK2 through CARD-CARDdomains. Contributes to the tyrosine phosphorylation of theguanine exchange factor ARHGEF2 through Src tyrosine kinaseleading to NF-kappaB activation by NOD2. Once recruited, RIPK2autophosphorylates and undergoes 'Lys-63'-linkedpolyubiquitination by E3 ubiquitin ligases XIAP, BIRC2 and BIRC3.The polyubiquitinated protein mediates the recruitment ofMAP3K7/TAK1 to IKBKG/NEMO and induces 'Lys-63'-linkedpolyubiquitination of IKBKG/NEMO and subsequent activation ofIKBKB/IKKB. In turn, NF-kappa-B is released from NF-kappa-Binhibitors and translocates into the nucleus where it activatesthe transcription of hundreds of genes involved in immuneresponse, growth control, or protection against apoptosis. Playsalso a role during engagement of the T-cell receptor (TCR) inpromoting BCL10 phosphorylation and subsequent NF-kappa-Bactivation. {ECO:0000269|PubMed:14638696,ECO:0000269|PubMed:17054981, ECO:0000269|PubMed:18079694,ECO:0000269|PubMed:21123652, ECO:0000269|PubMed:21887730}. |
| 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 SLC25A44_RIPK2 |
| 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 SLC25A44_RIPK2 |
| 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 |
| - 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 SLC25A44_RIPK2 |
| 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 SLC25A44_RIPK2 |
| Diseases associated with fusion partners. (DisGeNet 4.0) |
| Partner | Gene | Disease ID | Disease name | # pubmeds | Source |
| Tgene | RIPK2 | C0009324 | Ulcerative Colitis | 1 | CTD_human |
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