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Fusion gene ID: 34256 |
FusionGeneSummary for SLC25A44_RIPK2 |
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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) |
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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 |
![]() (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 |
![]() * 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 |
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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}. |
![]() * 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 |
![]() (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 |
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Hgene | Hgene's interactors | Tgene | Tgene's interactors |
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Partner | Gene | Hbp | Tbp | ENST | Strand | BPexon | TotalExon | Protein feature loci | *BPloci | TotalLen | Still interaction with |
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Partner | Gene | Hbp | Tbp | ENST | Strand | BPexon | TotalExon | Protein feature loci | *BPloci | TotalLen | Interaction lost with |
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Partner | Gene | Hbp | Tbp | ENST | Strand | BPexon | TotalExon | Protein feature loci | *BPloci | TotalLen | Interaction lost with |
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RelatedDrugs for SLC25A44_RIPK2 |
![]() (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 |
![]() (DisGeNet 4.0) |
Partner | Gene | Disease ID | Disease name | # pubmeds | Source |
Tgene | RIPK2 | C0009324 | Ulcerative Colitis | 1 | CTD_human |