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Center for Computational Systems Medicine
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FusionGeneSummary

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FusionProtFeature

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FusionGeneSequence

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FusionGenePPI

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RelatedDrugs

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RelatedDiseases

Fusion gene ID: 1603

FusionGeneSummary for AMD1_TNFAIP3

check button Fusion gene summary
Fusion gene informationFusion gene name: AMD1_TNFAIP3
Fusion gene ID: 1603
HgeneTgene
Gene symbol

AMD1

TNFAIP3

Gene ID

262

7128

Gene nameadenosylmethionine decarboxylase 1TNF alpha induced protein 3
SynonymsADOMETDC|AMD|SAMDCA20|AISBL|OTUD7C|TNFA1P2
Cytomap

6q21

6q23.3

Type of geneprotein-codingprotein-coding
DescriptionS-adenosylmethionine decarboxylase proenzymeS-adenosylmethionine decarboxylase 1tumor 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 date2018052320180527
UniProtAcc

P17707

P21580

Ensembl transtripts involved in fusion geneENST00000368882, ENST00000368885, 
ENST00000451850, ENST00000368877, 
ENST00000368876, 
ENST00000237289, 
ENST00000485192, 
Fusion gene scores* DoF score6 X 4 X 3=724 X 4 X 3=48
# samples 64
** MAII scorelog2(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)

check button Gene ontology of each fusion partner gene with evidence of Inferred from Direct Assay (IDA) from Entrez
PartnerGeneGO IDGO termPubMed ID
TgeneTNFAIP3

GO:0002237

response to molecule of bacterial origin

19912257

TgeneTNFAIP3

GO:0031397

negative regulation of protein ubiquitination

20392859

TgeneTNFAIP3

GO:0032088

negative regulation of NF-kappaB transcription factor activity

18223652

TgeneTNFAIP3

GO:0034140

negative regulation of toll-like receptor 3 signaling pathway

15474016

TgeneTNFAIP3

GO:0035871

protein K11-linked deubiquitination

23827681

TgeneTNFAIP3

GO:0043124

negative regulation of I-kappaB kinase/NF-kappaB signaling

11463333|15258597|21127049

TgeneTNFAIP3

GO:0045732

positive regulation of protein catabolic process

21127049

TgeneTNFAIP3

GO:0048662

negative regulation of smooth muscle cell proliferation

16816117

TgeneTNFAIP3

GO:0070536

protein K63-linked deubiquitination

15258597

TgeneTNFAIP3

GO:0070936

protein K48-linked ubiquitination

15258597

TgeneTNFAIP3

GO:0071108

protein K48-linked deubiquitination

23827681

TgeneTNFAIP3

GO:0071222

cellular response to lipopolysaccharide

19912257|21127049|21220427

TgeneTNFAIP3

GO:1902042

negative regulation of extrinsic apoptotic signaling pathway via death domain receptors

12167698

TgeneTNFAIP3

GO:2000352

negative regulation of endothelial cell apoptotic process

12885753


check button 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 typeSourceCancer typeSampleHgeneHchrHbpHstrandTgeneTchrTbpTstrand
ChiTaRS3.1CR992767AMD1chr6

111196421

+TNFAIP3chr6

138192348

+
* LD: Li Ding group's fusion gene list
  RV: Roel Verhaak group's fusion gene list
  ChiTaRs fusion database

check button 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.
ORFHenstTenstHgeneHchrHbpHstrandTgeneTchrTbpTstrand
5UTR-5UTRENST00000368882ENST00000237289AMD1chr6

111196421

+TNFAIP3chr6

138192348

+
5UTR-intronENST00000368882ENST00000485192AMD1chr6

111196421

+TNFAIP3chr6

138192348

+
5CDS-5UTRENST00000368885ENST00000237289AMD1chr6

111196421

+TNFAIP3chr6

138192348

+
5CDS-intronENST00000368885ENST00000485192AMD1chr6

111196421

+TNFAIP3chr6

138192348

+
5CDS-5UTRENST00000451850ENST00000237289AMD1chr6

111196421

+TNFAIP3chr6

138192348

+
5CDS-intronENST00000451850ENST00000485192AMD1chr6

111196421

+TNFAIP3chr6

138192348

+
5CDS-5UTRENST00000368877ENST00000237289AMD1chr6

111196421

+TNFAIP3chr6

138192348

+
5CDS-intronENST00000368877ENST00000485192AMD1chr6

111196421

+TNFAIP3chr6

138192348

+
intron-5UTRENST00000368876ENST00000237289AMD1chr6

111196421

+TNFAIP3chr6

138192348

+
intron-intronENST00000368876ENST00000485192AMD1chr6

111196421

+TNFAIP3chr6

138192348

+

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FusionProtFeatures for AMD1_TNFAIP3


check buttonMain function of each fusion partner protein. (from UniProt)
HgeneTgene
AMD1

P17707

TNFAIP3

P21580

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}.

check buttonRetention 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

download page

.

* 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.
PartnerGeneHbpTbpENSTStrandBPexonTotalExonProtein feature loci*BPlociTotalLenProtein featureProtein feature note

- In-frame and not-retained protein feature among the 13 regional features.
PartnerGeneHbpTbpENSTStrandBPexonTotalExonProtein feature loci*BPlociTotalLenProtein featureProtein feature note


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FusionGeneSequence for AMD1_TNFAIP3


check button 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 AMD1_TNFAIP3


check button Go to ChiPPI (Chimeric Protein-Protein interactions) to see the chimeric PPI interaction in

ChiPPI page

.

check button Protein-protein interactors with each fusion partner protein in wild-type (BIOGRID-3.4.160)
HgeneHgene's interactorsTgeneTgene's interactors
AMD1AMD1, 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, TCF25TNFAIP3TAX1BP1, 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


check button - Retained PPIs in in-frame fusion.
PartnerGeneHbpTbpENSTStrandBPexonTotalExonProtein feature loci*BPlociTotalLenStill interaction with


check button - Lost PPIs in in-frame fusion.
PartnerGeneHbpTbpENSTStrandBPexonTotalExonProtein feature loci*BPlociTotalLenInteraction lost with


check button - Retained PPIs, but lost function due to frame-shift fusion.
PartnerGeneHbpTbpENSTStrandBPexonTotalExonProtein feature loci*BPlociTotalLenInteraction lost with


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RelatedDrugs for AMD1_TNFAIP3


check button Drugs targeting genes involved in this fusion gene.
(DrugBank Version 5.1.0 2018-04-02)
PartnerGeneUniProtAccDrugBank IDDrug nameDrug activityDrug typeDrug status
HgeneAMD1P17707DB03754TromethamineS-adenosylmethionine decarboxylase proenzymesmall moleculeapproved
HgeneAMD1P17707DB00118AdemetionineS-adenosylmethionine decarboxylase proenzymesmall moleculeapproved|investigational|nutraceutical

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RelatedDiseases for AMD1_TNFAIP3


check button Diseases associated with fusion partners.
(DisGeNet 4.0)
PartnerGeneDisease IDDisease name# pubmedsSource
TgeneTNFAIP3C0003873Rheumatoid Arthritis4CTD_human
TgeneTNFAIP3C0024141Lupus Erythematosus, Systemic4CTD_human
TgeneTNFAIP3C0033860Psoriasis2CTD_human
TgeneTNFAIP3C1527336Sjogren's Syndrome2CTD_human
TgeneTNFAIP3C0007621Neoplastic Cell Transformation1CTD_human
TgeneTNFAIP3C0024301Lymphoma, Follicular1CTD_human
TgeneTNFAIP3C0026769Multiple Sclerosis1CTD_human
TgeneTNFAIP3C0079773Lymphoma, T-Cell, Cutaneous1CTD_human
TgeneTNFAIP3C0751422Hereditary Autoinflammatory Diseases1CTD_human
TgeneTNFAIP3C4225218AUTOINFLAMMATORY SYNDROME, FAMILIAL, BEHCET-LIKE1ORPHANET;UNIPROT