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Fusion gene ID: 12690 |
FusionGeneSummary for FAM193A_TNIP2 |
Fusion gene summary |
| Fusion gene information | Fusion gene name: FAM193A_TNIP2 | Fusion gene ID: 12690 | Hgene | Tgene | Gene symbol | FAM193A | TNIP2 | Gene ID | 8603 | 79155 |
| Gene name | family with sequence similarity 193 member A | TNFAIP3 interacting protein 2 | |
| Synonyms | C4orf8|RES4-22 | ABIN2|FLIP1|KLIP | |
| Cytomap | 4p16.3 | 4p16.3 | |
| Type of gene | protein-coding | protein-coding | |
| Description | protein FAM193A | TNFAIP3-interacting protein 2A20-binding inhibitor of NF-kappaB activation-2fetal liver LKB1-interacting protein | |
| Modification date | 20180519 | 20180522 | |
| UniProtAcc | P78312 | Q8NFZ5 | |
| Ensembl transtripts involved in fusion gene | ENST00000545951, ENST00000382839, ENST00000324666, ENST00000502458, ENST00000505311, | ENST00000510267, ENST00000315423, ENST00000503235, ENST00000505186, | |
| Fusion gene scores | * DoF score | 10 X 8 X 8=640 | 1 X 1 X 1=1 |
| # samples | 11 | 1 | |
| ** MAII score | log2(11/640*10)=-2.5405683813627 possibly effective Gene in Pan-Cancer Fusion Genes (peGinPCFGs). DoF>8 and MAII<0 | log2(1/1*10)=3.32192809488736 | |
| Context | PubMed: FAM193A [Title/Abstract] AND TNIP2 [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 | TNIP2 | GO:0043123 | positive regulation of I-kappaB kinase/NF-kappaB signaling | 21784860 |
| Tgene | TNIP2 | GO:0045944 | positive regulation of transcription by RNA polymerase II | 12753905 |
| Tgene | TNIP2 | GO:2000352 | negative regulation of endothelial cell apoptotic process | 12933576 |
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 | LUSC | TCGA-21-1082-01A | FAM193A | chr4 | 2702271 | + | TNIP2 | chr4 | 2749672 | - |
| * 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 |
| 5CDS-5UTR | ENST00000545951 | ENST00000510267 | FAM193A | chr4 | 2702271 | + | TNIP2 | chr4 | 2749672 | - |
| 5CDS-5UTR | ENST00000545951 | ENST00000315423 | FAM193A | chr4 | 2702271 | + | TNIP2 | chr4 | 2749672 | - |
| 5CDS-5UTR | ENST00000545951 | ENST00000503235 | FAM193A | chr4 | 2702271 | + | TNIP2 | chr4 | 2749672 | - |
| 5CDS-intron | ENST00000545951 | ENST00000505186 | FAM193A | chr4 | 2702271 | + | TNIP2 | chr4 | 2749672 | - |
| 5CDS-5UTR | ENST00000382839 | ENST00000510267 | FAM193A | chr4 | 2702271 | + | TNIP2 | chr4 | 2749672 | - |
| 5CDS-5UTR | ENST00000382839 | ENST00000315423 | FAM193A | chr4 | 2702271 | + | TNIP2 | chr4 | 2749672 | - |
| 5CDS-5UTR | ENST00000382839 | ENST00000503235 | FAM193A | chr4 | 2702271 | + | TNIP2 | chr4 | 2749672 | - |
| 5CDS-intron | ENST00000382839 | ENST00000505186 | FAM193A | chr4 | 2702271 | + | TNIP2 | chr4 | 2749672 | - |
| 5CDS-5UTR | ENST00000324666 | ENST00000510267 | FAM193A | chr4 | 2702271 | + | TNIP2 | chr4 | 2749672 | - |
| 5CDS-5UTR | ENST00000324666 | ENST00000315423 | FAM193A | chr4 | 2702271 | + | TNIP2 | chr4 | 2749672 | - |
| 5CDS-5UTR | ENST00000324666 | ENST00000503235 | FAM193A | chr4 | 2702271 | + | TNIP2 | chr4 | 2749672 | - |
| 5CDS-intron | ENST00000324666 | ENST00000505186 | FAM193A | chr4 | 2702271 | + | TNIP2 | chr4 | 2749672 | - |
| 5CDS-5UTR | ENST00000502458 | ENST00000510267 | FAM193A | chr4 | 2702271 | + | TNIP2 | chr4 | 2749672 | - |
| 5CDS-5UTR | ENST00000502458 | ENST00000315423 | FAM193A | chr4 | 2702271 | + | TNIP2 | chr4 | 2749672 | - |
| 5CDS-5UTR | ENST00000502458 | ENST00000503235 | FAM193A | chr4 | 2702271 | + | TNIP2 | chr4 | 2749672 | - |
| 5CDS-intron | ENST00000502458 | ENST00000505186 | FAM193A | chr4 | 2702271 | + | TNIP2 | chr4 | 2749672 | - |
| 5CDS-5UTR | ENST00000505311 | ENST00000510267 | FAM193A | chr4 | 2702271 | + | TNIP2 | chr4 | 2749672 | - |
| 5CDS-5UTR | ENST00000505311 | ENST00000315423 | FAM193A | chr4 | 2702271 | + | TNIP2 | chr4 | 2749672 | - |
| 5CDS-5UTR | ENST00000505311 | ENST00000503235 | FAM193A | chr4 | 2702271 | + | TNIP2 | chr4 | 2749672 | - |
| 5CDS-intron | ENST00000505311 | ENST00000505186 | FAM193A | chr4 | 2702271 | + | TNIP2 | chr4 | 2749672 | - |
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FusionProtFeatures for FAM193A_TNIP2 |
Main function of each fusion partner protein. (from UniProt) |
| Hgene | Tgene |
| FAM193A | TNIP2 |
| Inhibits NF-kappa-B activation by blocking theinteraction of RIPK1 with its downstream effector NEMO/IKBKG.Forms a ternary complex with NFKB1 and MAP3K8 but appears tofunction upstream of MAP3K8 in the TLR4 signaling pathway thatregulates MAP3K8 activation. Involved in activation of the MEK/ERKsignaling pathway during innate immune response; this functionseems to be stimulus- and cell type specific. Required forstability of MAP3K8. Involved in regulation of apoptosis inendothelial cells; promotes TEK agonist-stimulated endothelialsurvival. May act as transcriptional coactivator when translocatedto the nucleus. Enhances CHUK-mediated NF-kappa-B activationinvolving NF-kappa-B p50-p65 and p50-c-Rel complexes.{ECO:0000269|PubMed:12595760, ECO:0000269|PubMed:12753905,ECO:0000269|PubMed:12933576, ECO:0000269|PubMed:14653779,ECO:0000269|PubMed:15169888, ECO:0000269|PubMed:21784860}. |
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 FAM193A_TNIP2 |
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 FAM193A_TNIP2 |
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 |
| FAM193A | ANKRD28, MDM4 | TNIP2 | RELA, NFKB2, NFKB1, REL, MAP3K8, NCOR2, UBC, TNFAIP3, IKBKG, CHUK, IKBKB, STK11, SMARCD1, TEK, APP, FBXO25, MKNK1, EP300, CDKN1A, MAPK1, PSMD9, PDCD6IP, SRPK2, USP7, CLK1, XPO1, SMURF1, RAB11FIP4, DKK3, SSSCA1, C16orf71, RELB, CCDC40, EMILIN1, USP35 |
- 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 FAM193A_TNIP2 |
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 FAM193A_TNIP2 |
Diseases associated with fusion partners. (DisGeNet 4.0) |
| Partner | Gene | Disease ID | Disease name | # pubmeds | Source |