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Fusion gene ID: 787 |
FusionGeneSummary for ADAR_KRTCAP2 |
 Fusion gene summary |
| Fusion gene information | Fusion gene name: ADAR_KRTCAP2 | Fusion gene ID: 787 | Hgene | Tgene | Gene symbol | ADAR | KRTCAP2 | Gene ID | 103 | 200185 |
| Gene name | adenosine deaminase, RNA specific | keratinocyte associated protein 2 | |
| Synonyms | ADAR1|AGS6|DRADA|DSH|DSRAD|G1P1|IFI-4|IFI4|K88DSRBP|P136 | KCP2 | |
| Cytomap | 1q21.3 | 1q22 | |
| Type of gene | protein-coding | protein-coding | |
| Description | double-stranded RNA-specific adenosine deaminase136 kDa double-stranded RNA-binding proteinadenosine deaminase acting on RNA 1-AdsRNA adenosine deaminasedsRNA adeonosine deaminaseinterferon-induced protein 4interferon-inducible protein 4 | keratinocyte-associated protein 2KCP-2keratinocytes associated protein 2 | |
| Modification date | 20180524 | 20180519 | |
| UniProtAcc | P55265 | Q8N6L1 | |
| Ensembl transtripts involved in fusion gene | ENST00000292205, ENST00000368474, ENST00000368471, ENST00000471068, | ENST00000295682, ENST00000490672, | |
| Fusion gene scores | * DoF score | 7 X 6 X 6=252 | 1 X 1 X 1=1 |
| # samples | 7 | 1 | |
| ** MAII score | log2(7/252*10)=-1.84799690655495 possibly effective Gene in Pan-Cancer Fusion Genes (peGinPCFGs). DoF>8 and MAII<0 | log2(1/1*10)=3.32192809488736 | |
| Context | PubMed: ADAR [Title/Abstract] AND KRTCAP2 [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 |
| Hgene | ADAR | GO:0006382 | adenosine to inosine editing | 15858013|19651874|21289159 |
| Hgene | ADAR | GO:0016553 | base conversion or substitution editing | 9020165 |
| Hgene | ADAR | GO:0031054 | pre-miRNA processing | 23622242 |
| Hgene | ADAR | GO:0035280 | miRNA loading onto RISC involved in gene silencing by miRNA | 23622242 |
| Hgene | ADAR | GO:0035455 | response to interferon-alpha | 16475990 |
| Hgene | ADAR | GO:0044387 | negative regulation of protein kinase activity by regulation of protein phosphorylation | 19651874 |
| Hgene | ADAR | GO:0045070 | positive regulation of viral genome replication | 19651874 |
| 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 | LIHC | TCGA-RC-A6M4-01A | ADAR | chr1 | 154580468 | - | KRTCAP2 | chr1 | 155142333 | - |
| * 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 |
| intron-3CDS | ENST00000292205 | ENST00000295682 | ADAR | chr1 | 154580468 | - | KRTCAP2 | chr1 | 155142333 | - |
| intron-5UTR | ENST00000292205 | ENST00000490672 | ADAR | chr1 | 154580468 | - | KRTCAP2 | chr1 | 155142333 | - |
| Frame-shit | ENST00000368474 | ENST00000295682 | ADAR | chr1 | 154580468 | - | KRTCAP2 | chr1 | 155142333 | - |
| 5CDS-5UTR | ENST00000368474 | ENST00000490672 | ADAR | chr1 | 154580468 | - | KRTCAP2 | chr1 | 155142333 | - |
| intron-3CDS | ENST00000368471 | ENST00000295682 | ADAR | chr1 | 154580468 | - | KRTCAP2 | chr1 | 155142333 | - |
| intron-5UTR | ENST00000368471 | ENST00000490672 | ADAR | chr1 | 154580468 | - | KRTCAP2 | chr1 | 155142333 | - |
| intron-3CDS | ENST00000471068 | ENST00000295682 | ADAR | chr1 | 154580468 | - | KRTCAP2 | chr1 | 155142333 | - |
| intron-5UTR | ENST00000471068 | ENST00000490672 | ADAR | chr1 | 154580468 | - | KRTCAP2 | chr1 | 155142333 | - |
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FusionProtFeatures for ADAR_KRTCAP2 |
| Main function of each fusion partner protein. (from UniProt) |
| Hgene | Tgene |
| ADAR | KRTCAP2 |
| Acts as accessory component of the N-oligosaccharyltransferase (OST) complex which catalyzes the transfer of a highmannose oligosaccharide from a lipid-linked oligosaccharide donorto an asparagine residue within an Asn-X-Ser/Thr consensus motifin nascent polypeptide chains. Required for efficient substrate-specific N-glycosylation probably involving the STT3A-containingOST complex. May be involved in N-glycosylation of APP (amyloid-beta precursor protein). Can modulate gamma-secretase cleavage ofAPP by enhancing endoprotelysis of PSEN1.{ECO:0000269|PubMed:21768116, ECO:0000269|PubMed:22467853,ECO:0000305}. |
| 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 ADAR_KRTCAP2 |
| 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 ADAR_KRTCAP2 |
| 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 |
| ADAR | XPO1, HDLBP, HDAC5, ELAVL1, HNRNPA1, CUL3, CAND1, DDX17, HNRNPM, UPF1, SNRPN, SNRPB, DHX9, HDAC9, TGM2, UBE2I, FBXO6, TARDBP, RPA1, RPA2, RPA3, ERG, STAU2, STAU1, CUL7, OBSL1, EZH2, SUZ12, EED, RNF2, BMI1, EGFR, USP38, FBXW11, NTRK1, SMC2, SCARNA22, IFI16, MYC, XRCC3, MATR3, THOC1, TACC3, EXOSC4, THOC2, THOC7, MMGT1, ZFC3H1, RBPJ, FOXA2, FOXA3, FOXB1, FOXG1, FOXH1, FOXI2, CRY2, FOXL1, FOXP3, FOXS1, MEX3C, COX15, PDHA1, FOXA1, G3BP1, UBE2A | KRTCAP2 | DDOST, APP, STT3A, STT3B, SHD, TCTN2, TCTN3, SCLT1, CREB3 |
| - 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 ADAR_KRTCAP2 |
| 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 ADAR_KRTCAP2 |
| Diseases associated with fusion partners. (DisGeNet 4.0) |
| Partner | Gene | Disease ID | Disease name | # pubmeds | Source |
| Hgene | ADAR | C0406775 | Symmetrical dyschromatosis of extremities | 3 | CTD_human;ORPHANET;UNIPROT |
| Hgene | ADAR | C0796126 | AICARDI-GOUTIERES SYNDROME 1 | 1 | CTD_human |
| Hgene | ADAR | C3539013 | AICARDI-GOUTIERES SYNDROME 6 | 1 | UNIPROT |
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