|
Fusion gene ID: 1603 |
FusionGeneSummary for AMD1_TNFAIP3 |
Fusion gene summary |
Fusion gene information | Fusion gene name: AMD1_TNFAIP3 | Fusion gene ID: 1603 | Hgene | Tgene | Gene symbol | AMD1 | TNFAIP3 | Gene ID | 262 | 7128 |
Gene name | adenosylmethionine decarboxylase 1 | TNF alpha induced protein 3 | |
Synonyms | ADOMETDC|AMD|SAMDC | A20|AISBL|OTUD7C|TNFA1P2 | |
Cytomap | 6q21 | 6q23.3 | |
Type of gene | protein-coding | protein-coding | |
Description | S-adenosylmethionine decarboxylase proenzymeS-adenosylmethionine decarboxylase 1 | tumor necrosis factor alpha-induced protein 3OTU domain-containing protein 7Cputative DNA-binding protein A20tumor necrosis factor inducible protein A20tumor necrosis factor, alpha induced protein 3zinc finger protein A20 | |
Modification date | 20180523 | 20180527 | |
UniProtAcc | P17707 | P21580 | |
Ensembl transtripts involved in fusion gene | ENST00000368882, ENST00000368885, ENST00000451850, ENST00000368877, ENST00000368876, | ENST00000237289, ENST00000485192, | |
Fusion gene scores | * DoF score | 6 X 4 X 3=72 | 4 X 4 X 3=48 |
# samples | 6 | 4 | |
** MAII score | log2(6/72*10)=-0.263034405833794 possibly effective Gene in Pan-Cancer Fusion Genes (peGinPCFGs). DoF>8 and MAII<0 | log2(4/48*10)=-0.263034405833794 possibly effective Gene in Pan-Cancer Fusion Genes (peGinPCFGs). DoF>8 and MAII<0 | |
Context | PubMed: AMD1 [Title/Abstract] AND TNFAIP3 [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 | TNFAIP3 | GO:0002237 | response to molecule of bacterial origin | 19912257 |
Tgene | TNFAIP3 | GO:0031397 | negative regulation of protein ubiquitination | 20392859 |
Tgene | TNFAIP3 | GO:0032088 | negative regulation of NF-kappaB transcription factor activity | 18223652 |
Tgene | TNFAIP3 | GO:0034140 | negative regulation of toll-like receptor 3 signaling pathway | 15474016 |
Tgene | TNFAIP3 | GO:0035871 | protein K11-linked deubiquitination | 23827681 |
Tgene | TNFAIP3 | GO:0043124 | negative regulation of I-kappaB kinase/NF-kappaB signaling | 11463333|15258597|21127049 |
Tgene | TNFAIP3 | GO:0045732 | positive regulation of protein catabolic process | 21127049 |
Tgene | TNFAIP3 | GO:0048662 | negative regulation of smooth muscle cell proliferation | 16816117 |
Tgene | TNFAIP3 | GO:0070536 | protein K63-linked deubiquitination | 15258597 |
Tgene | TNFAIP3 | GO:0070936 | protein K48-linked ubiquitination | 15258597 |
Tgene | TNFAIP3 | GO:0071108 | protein K48-linked deubiquitination | 23827681 |
Tgene | TNFAIP3 | GO:0071222 | cellular response to lipopolysaccharide | 19912257|21127049|21220427 |
Tgene | TNFAIP3 | GO:1902042 | negative regulation of extrinsic apoptotic signaling pathway via death domain receptors | 12167698 |
Tgene | TNFAIP3 | GO:2000352 | negative regulation of endothelial cell apoptotic process | 12885753 |
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 | CR992767 | AMD1 | chr6 | 111196421 | + | TNFAIP3 | chr6 | 138192348 | + |
* 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-5UTR | ENST00000368882 | ENST00000237289 | AMD1 | chr6 | 111196421 | + | TNFAIP3 | chr6 | 138192348 | + |
5UTR-intron | ENST00000368882 | ENST00000485192 | AMD1 | chr6 | 111196421 | + | TNFAIP3 | chr6 | 138192348 | + |
5CDS-5UTR | ENST00000368885 | ENST00000237289 | AMD1 | chr6 | 111196421 | + | TNFAIP3 | chr6 | 138192348 | + |
5CDS-intron | ENST00000368885 | ENST00000485192 | AMD1 | chr6 | 111196421 | + | TNFAIP3 | chr6 | 138192348 | + |
5CDS-5UTR | ENST00000451850 | ENST00000237289 | AMD1 | chr6 | 111196421 | + | TNFAIP3 | chr6 | 138192348 | + |
5CDS-intron | ENST00000451850 | ENST00000485192 | AMD1 | chr6 | 111196421 | + | TNFAIP3 | chr6 | 138192348 | + |
5CDS-5UTR | ENST00000368877 | ENST00000237289 | AMD1 | chr6 | 111196421 | + | TNFAIP3 | chr6 | 138192348 | + |
5CDS-intron | ENST00000368877 | ENST00000485192 | AMD1 | chr6 | 111196421 | + | TNFAIP3 | chr6 | 138192348 | + |
intron-5UTR | ENST00000368876 | ENST00000237289 | AMD1 | chr6 | 111196421 | + | TNFAIP3 | chr6 | 138192348 | + |
intron-intron | ENST00000368876 | ENST00000485192 | AMD1 | chr6 | 111196421 | + | TNFAIP3 | chr6 | 138192348 | + |
Top |
FusionProtFeatures for AMD1_TNFAIP3 |
Main function of each fusion partner protein. (from UniProt) |
Hgene | Tgene |
AMD1 | TNFAIP3 |
Essential for biosynthesis of the polyamines spermidineand spermine. Promotes maintenance and self-renewal of embryonicstem cells, by maintaining spermine levels.{ECO:0000250|UniProtKB:P0DMN7}. | Ubiquitin-editing enzyme that contains both ubiquitinligase and deubiquitinase activities. Involved in immune andinflammatory responses signaled by cytokines, such as TNF-alphaand IL-1 beta, or pathogens via Toll-like receptors (TLRs) throughterminating NF-kappa-B activity. Essential component of aubiquitin-editing protein complex, comprising also RNF11, ITCH andTAX1BP1, that ensures the transient nature of inflammatorysignaling pathways. In cooperation with TAX1BP1 promotesdisassembly of E2-E3 ubiquitin protein ligase complexes in IL-1Rand TNFR-1 pathways; affected are at least E3 ligases TRAF6, TRAF2and BIRC2, and E2 ubiquitin-conjugating enzymes UBE2N and UBE2D3.In cooperation with TAX1BP1 promotes ubiquitination of UBE2N andproteasomal degradation of UBE2N and UBE2D3. Upon TNF stimulation,deubiquitinates 'Lys-63'-polyubiquitin chains on RIPK1 andcatalyzes the formation of 'Lys-48'-polyubiquitin chains. Thisleads to RIPK1 proteasomal degradation and consequentlytermination of the TNF- or LPS-mediated activation of NF-kappa-B.Deubiquitinates TRAF6 probably acting on 'Lys-63'-linkedpolyubiquitin. Upon T-cell receptor (TCR)-mediated T-cellactivation, deubiquitinates 'Lys-63'-polyubiquitin chains on MALT1thereby mediating disassociation of the CBM (CARD11:BCL10:MALT1)and IKK complexes and preventing sustained IKK activation.Deubiquitinates NEMO/IKBKG; the function is facilitated by TNIP1and leads to inhibition of NF-kappa-B activation. Upon stimulationby bacterial peptidoglycans, probably deubiquitinates RIPK2. Canalso inhibit I-kappa-B-kinase (IKK) through a non-catalyticmechanism which involves polyubiquitin; polyubiquitin promotesassociation with IKBKG and prevents IKK MAP3K7-mediatedphosphorylation. Targets TRAF2 for lysosomal degradation. In vitroable to deubiquitinate 'Lys-11'-, 'Lys-48'- and 'Lys-63'polyubiquitin chains. Inhibitor of programmed cell death. Has arole in the function of the lymphoid system. Required for LPS-induced production of proinflammatory cytokines and IFN beta inLPS-tolerized macrophages. {ECO:0000269|PubMed:14748687,ECO:0000269|PubMed:15258597, ECO:0000269|PubMed:16684768,ECO:0000269|PubMed:17961127, ECO:0000269|PubMed:18164316,ECO:0000269|PubMed:18952128, ECO:0000269|PubMed:19494296,ECO:0000269|PubMed:22099304, ECO:0000269|PubMed:23827681,ECO:0000269|PubMed:8692885, ECO:0000269|PubMed:9299557,ECO:0000269|PubMed:9882303}. |
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 |
Top |
FusionGeneSequence for AMD1_TNFAIP3 |
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). |
Top |
FusionGenePPI for AMD1_TNFAIP3 |
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 |
AMD1 | AMD1, ELAVL1, RTBDN, DOK3, POLR2M, DNASE2B, PRELP, BMP15, KPTN, CLEC11A, ASTL, BMP7, NYX, ADCYAP1, HSPB1, MED4, SSX2, DKKL1, POP4, FBXO4, MISP, SHC4, HDAC11, SHC1, SNX21, PTH2, CCDC120, POMC, GLTP, TCF25 | TNFAIP3 | TAX1BP1, TRAF1, TRAF2, TNFAIP3, IKBKG, TNIP1, YWHAZ, YWHAH, YWHAB, YWHAE, IKBKB, CHUK, TRAF6, RNF11, RIPK1, CASP8, LAMP1, ALDH9A1, GLDC, KIF11, MCM6, NDUFS1, PPP2R1B, RNH1, CNKSR2, FBXO3, TBK1, PPP6R3, LRRC47, RARRES3, YWHAG, BECN1, IRAK1, IRAK2, UBC, IRF7, TNF, TNFRSF1A, FADD, MAP3K5, IKBKE, TNIP2, TNIP3, LAPTM5, TICAM1, CCDC50, RNF31, SHARPIN, RBCK1, TNFSF10, TNFRSF10B, UBE2N, TRIM2, RNF5, RNF14, RLIM, TRIM3, TRIM8, TRIM5, HSP90AA1, TP53, AXIN1, GIT2, NFKB2, BIRC3, BIRC2, OCLN, MALT1, ELAVL1, YWHAQ, RNF114, UBE2D1, TRIM23, ARRDC3, NXF1, MTOR, NOD2, OTUD5, PCDHB5, RNF166, SHKBP1, UBB, ANKRD13D, TBC1D24, SRC, KCTD10, AIDA, NEDD4L, ARIH1, SNAI1, NFKB1 |
- 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 |
Top |
RelatedDrugs for AMD1_TNFAIP3 |
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 |
Hgene | AMD1 | P17707 | DB03754 | Tromethamine | S-adenosylmethionine decarboxylase proenzyme | small molecule | approved |
Hgene | AMD1 | P17707 | DB00118 | Ademetionine | S-adenosylmethionine decarboxylase proenzyme | small molecule | approved|investigational|nutraceutical |
Top |
RelatedDiseases for AMD1_TNFAIP3 |
Diseases associated with fusion partners. (DisGeNet 4.0) |
Partner | Gene | Disease ID | Disease name | # pubmeds | Source |
Tgene | TNFAIP3 | C0003873 | Rheumatoid Arthritis | 4 | CTD_human |
Tgene | TNFAIP3 | C0024141 | Lupus Erythematosus, Systemic | 4 | CTD_human |
Tgene | TNFAIP3 | C0033860 | Psoriasis | 2 | CTD_human |
Tgene | TNFAIP3 | C1527336 | Sjogren's Syndrome | 2 | CTD_human |
Tgene | TNFAIP3 | C0007621 | Neoplastic Cell Transformation | 1 | CTD_human |
Tgene | TNFAIP3 | C0024301 | Lymphoma, Follicular | 1 | CTD_human |
Tgene | TNFAIP3 | C0026769 | Multiple Sclerosis | 1 | CTD_human |
Tgene | TNFAIP3 | C0079773 | Lymphoma, T-Cell, Cutaneous | 1 | CTD_human |
Tgene | TNFAIP3 | C0751422 | Hereditary Autoinflammatory Diseases | 1 | CTD_human |
Tgene | TNFAIP3 | C4225218 | AUTOINFLAMMATORY SYNDROME, FAMILIAL, BEHCET-LIKE | 1 | ORPHANET;UNIPROT |