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Fusion gene ID: 17081 |
FusionGeneSummary for IFNAR1_DCLRE1C |
Fusion gene summary |
Fusion gene information | Fusion gene name: IFNAR1_DCLRE1C | Fusion gene ID: 17081 | Hgene | Tgene | Gene symbol | IFNAR1 | DCLRE1C | Gene ID | 3454 | 64421 |
Gene name | interferon alpha and beta receptor subunit 1 | DNA cross-link repair 1C | |
Synonyms | AVP|IFN-alpha-REC|IFNAR|IFNBR|IFRC | A-SCID|DCLREC1C|RS-SCID|SCIDA|SNM1C | |
Cytomap | 21q22.11 | 10p13 | |
Type of gene | protein-coding | protein-coding | |
Description | interferon alpha/beta receptor 1CRF2-1IFN-R-1IFN-alpha/beta receptor 1alpha-type antiviral proteinbeta-type antiviral proteincytokine receptor class-II member 1cytokine receptor family 2 member 1interferon (alpha, beta and omega) receptor 1interf | protein artemisDNA cross-link repair 1C (PSO2 homolog, S. cerevisiae)SNM1 homolog CSNM1-like proteinsevere combined immunodeficiency, type a (Athabascan) | |
Modification date | 20180523 | 20180523 | |
UniProtAcc | P17181 | Q96SD1 | |
Ensembl transtripts involved in fusion gene | ENST00000416947, ENST00000493503, ENST00000270139, ENST00000442357, | ENST00000378289, ENST00000453695, ENST00000378246, ENST00000357717, ENST00000378278, ENST00000396817, ENST00000378254, ENST00000378255, ENST00000378249, ENST00000378258, ENST00000378242, ENST00000492201, | |
Fusion gene scores | * DoF score | 4 X 4 X 2=32 | 4 X 3 X 3=36 |
# samples | 4 | 4 | |
** MAII score | log2(4/32*10)=0.321928094887362 effective Gene in Pan-Cancer Fusion Genes (eGinPCFGs). DoF>8 and MAII>0 | log2(4/36*10)=0.15200309344505 effective Gene in Pan-Cancer Fusion Genes (eGinPCFGs). DoF>8 and MAII>0 | |
Context | PubMed: IFNAR1 [Title/Abstract] AND DCLRE1C [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 | IFNAR1 | GO:0060337 | type I interferon signaling pathway | 7665574 |
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 | LD | LUAD | TCGA-O1-A52J-01A | IFNAR1 | chr21 | 34713480 | + | DCLRE1C | chr10 | 14951329 | - |
* 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-intron | ENST00000416947 | ENST00000378289 | IFNAR1 | chr21 | 34713480 | + | DCLRE1C | chr10 | 14951329 | - |
5CDS-intron | ENST00000416947 | ENST00000453695 | IFNAR1 | chr21 | 34713480 | + | DCLRE1C | chr10 | 14951329 | - |
5CDS-intron | ENST00000416947 | ENST00000378246 | IFNAR1 | chr21 | 34713480 | + | DCLRE1C | chr10 | 14951329 | - |
5CDS-intron | ENST00000416947 | ENST00000357717 | IFNAR1 | chr21 | 34713480 | + | DCLRE1C | chr10 | 14951329 | - |
5CDS-intron | ENST00000416947 | ENST00000378278 | IFNAR1 | chr21 | 34713480 | + | DCLRE1C | chr10 | 14951329 | - |
5CDS-intron | ENST00000416947 | ENST00000396817 | IFNAR1 | chr21 | 34713480 | + | DCLRE1C | chr10 | 14951329 | - |
5CDS-intron | ENST00000416947 | ENST00000378254 | IFNAR1 | chr21 | 34713480 | + | DCLRE1C | chr10 | 14951329 | - |
5CDS-intron | ENST00000416947 | ENST00000378255 | IFNAR1 | chr21 | 34713480 | + | DCLRE1C | chr10 | 14951329 | - |
5CDS-intron | ENST00000416947 | ENST00000378249 | IFNAR1 | chr21 | 34713480 | + | DCLRE1C | chr10 | 14951329 | - |
5CDS-intron | ENST00000416947 | ENST00000378258 | IFNAR1 | chr21 | 34713480 | + | DCLRE1C | chr10 | 14951329 | - |
5CDS-intron | ENST00000416947 | ENST00000378242 | IFNAR1 | chr21 | 34713480 | + | DCLRE1C | chr10 | 14951329 | - |
5CDS-5UTR | ENST00000416947 | ENST00000492201 | IFNAR1 | chr21 | 34713480 | + | DCLRE1C | chr10 | 14951329 | - |
intron-intron | ENST00000493503 | ENST00000378289 | IFNAR1 | chr21 | 34713480 | + | DCLRE1C | chr10 | 14951329 | - |
intron-intron | ENST00000493503 | ENST00000453695 | IFNAR1 | chr21 | 34713480 | + | DCLRE1C | chr10 | 14951329 | - |
intron-intron | ENST00000493503 | ENST00000378246 | IFNAR1 | chr21 | 34713480 | + | DCLRE1C | chr10 | 14951329 | - |
intron-intron | ENST00000493503 | ENST00000357717 | IFNAR1 | chr21 | 34713480 | + | DCLRE1C | chr10 | 14951329 | - |
intron-intron | ENST00000493503 | ENST00000378278 | IFNAR1 | chr21 | 34713480 | + | DCLRE1C | chr10 | 14951329 | - |
intron-intron | ENST00000493503 | ENST00000396817 | IFNAR1 | chr21 | 34713480 | + | DCLRE1C | chr10 | 14951329 | - |
intron-intron | ENST00000493503 | ENST00000378254 | IFNAR1 | chr21 | 34713480 | + | DCLRE1C | chr10 | 14951329 | - |
intron-intron | ENST00000493503 | ENST00000378255 | IFNAR1 | chr21 | 34713480 | + | DCLRE1C | chr10 | 14951329 | - |
intron-intron | ENST00000493503 | ENST00000378249 | IFNAR1 | chr21 | 34713480 | + | DCLRE1C | chr10 | 14951329 | - |
intron-intron | ENST00000493503 | ENST00000378258 | IFNAR1 | chr21 | 34713480 | + | DCLRE1C | chr10 | 14951329 | - |
intron-intron | ENST00000493503 | ENST00000378242 | IFNAR1 | chr21 | 34713480 | + | DCLRE1C | chr10 | 14951329 | - |
intron-5UTR | ENST00000493503 | ENST00000492201 | IFNAR1 | chr21 | 34713480 | + | DCLRE1C | chr10 | 14951329 | - |
5CDS-intron | ENST00000270139 | ENST00000378289 | IFNAR1 | chr21 | 34713480 | + | DCLRE1C | chr10 | 14951329 | - |
5CDS-intron | ENST00000270139 | ENST00000453695 | IFNAR1 | chr21 | 34713480 | + | DCLRE1C | chr10 | 14951329 | - |
5CDS-intron | ENST00000270139 | ENST00000378246 | IFNAR1 | chr21 | 34713480 | + | DCLRE1C | chr10 | 14951329 | - |
5CDS-intron | ENST00000270139 | ENST00000357717 | IFNAR1 | chr21 | 34713480 | + | DCLRE1C | chr10 | 14951329 | - |
5CDS-intron | ENST00000270139 | ENST00000378278 | IFNAR1 | chr21 | 34713480 | + | DCLRE1C | chr10 | 14951329 | - |
5CDS-intron | ENST00000270139 | ENST00000396817 | IFNAR1 | chr21 | 34713480 | + | DCLRE1C | chr10 | 14951329 | - |
5CDS-intron | ENST00000270139 | ENST00000378254 | IFNAR1 | chr21 | 34713480 | + | DCLRE1C | chr10 | 14951329 | - |
5CDS-intron | ENST00000270139 | ENST00000378255 | IFNAR1 | chr21 | 34713480 | + | DCLRE1C | chr10 | 14951329 | - |
5CDS-intron | ENST00000270139 | ENST00000378249 | IFNAR1 | chr21 | 34713480 | + | DCLRE1C | chr10 | 14951329 | - |
5CDS-intron | ENST00000270139 | ENST00000378258 | IFNAR1 | chr21 | 34713480 | + | DCLRE1C | chr10 | 14951329 | - |
5CDS-intron | ENST00000270139 | ENST00000378242 | IFNAR1 | chr21 | 34713480 | + | DCLRE1C | chr10 | 14951329 | - |
5CDS-5UTR | ENST00000270139 | ENST00000492201 | IFNAR1 | chr21 | 34713480 | + | DCLRE1C | chr10 | 14951329 | - |
5CDS-intron | ENST00000442357 | ENST00000378289 | IFNAR1 | chr21 | 34713480 | + | DCLRE1C | chr10 | 14951329 | - |
5CDS-intron | ENST00000442357 | ENST00000453695 | IFNAR1 | chr21 | 34713480 | + | DCLRE1C | chr10 | 14951329 | - |
5CDS-intron | ENST00000442357 | ENST00000378246 | IFNAR1 | chr21 | 34713480 | + | DCLRE1C | chr10 | 14951329 | - |
5CDS-intron | ENST00000442357 | ENST00000357717 | IFNAR1 | chr21 | 34713480 | + | DCLRE1C | chr10 | 14951329 | - |
5CDS-intron | ENST00000442357 | ENST00000378278 | IFNAR1 | chr21 | 34713480 | + | DCLRE1C | chr10 | 14951329 | - |
5CDS-intron | ENST00000442357 | ENST00000396817 | IFNAR1 | chr21 | 34713480 | + | DCLRE1C | chr10 | 14951329 | - |
5CDS-intron | ENST00000442357 | ENST00000378254 | IFNAR1 | chr21 | 34713480 | + | DCLRE1C | chr10 | 14951329 | - |
5CDS-intron | ENST00000442357 | ENST00000378255 | IFNAR1 | chr21 | 34713480 | + | DCLRE1C | chr10 | 14951329 | - |
5CDS-intron | ENST00000442357 | ENST00000378249 | IFNAR1 | chr21 | 34713480 | + | DCLRE1C | chr10 | 14951329 | - |
5CDS-intron | ENST00000442357 | ENST00000378258 | IFNAR1 | chr21 | 34713480 | + | DCLRE1C | chr10 | 14951329 | - |
5CDS-intron | ENST00000442357 | ENST00000378242 | IFNAR1 | chr21 | 34713480 | + | DCLRE1C | chr10 | 14951329 | - |
5CDS-5UTR | ENST00000442357 | ENST00000492201 | IFNAR1 | chr21 | 34713480 | + | DCLRE1C | chr10 | 14951329 | - |
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FusionProtFeatures for IFNAR1_DCLRE1C |
Main function of each fusion partner protein. (from UniProt) |
Hgene | Tgene |
IFNAR1 | DCLRE1C |
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 IFNAR1_DCLRE1C |
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 IFNAR1_DCLRE1C |
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 |
IFNAR1 | PRMT1, TYK2, STAT2, PIK3R1, STAT3, AP2M1, FBXW11, BTRC, PRKD2, SOCS1, STAT6, GNB2L1, IFNAR2, IFNB1, TNFRSF10A, TRIM25, USP7 | DCLRE1C | PRKDC, FBXW7, DDB1, DDB2, ATM, BRCA1, RAD50, NBN, MRE11A, ATR, XRCC5, CDKN1B, AKAP11, ANKRD52, ZSWIM8, PRKAG2, PRKAG1, PPP6R2, PRKAB1, PRKAB2, TRIM26, PRKACB, PRKAA1, PRKAA2, PASK, ANKRD28, DDX20, PPP6R1, GOLGA2, SPATA20, CDC27, PRKAR1B, PPP2R5E, TP53, MTHFR |
- 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 IFNAR1_DCLRE1C |
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 | IFNAR1 | P17181 | DB00022 | Peginterferon alfa-2b | Interferon alpha/beta receptor 1 | biotech | approved |
Hgene | IFNAR1 | P17181 | DB00068 | Interferon beta-1b | Interferon alpha/beta receptor 1 | biotech | approved |
Hgene | IFNAR1 | P17181 | DB00105 | Interferon Alfa-2b, Recombinant | Interferon alpha/beta receptor 1 | biotech | approved |
Hgene | IFNAR1 | P17181 | DB00008 | Peginterferon alfa-2a | Interferon alpha/beta receptor 1 | biotech | approved|investigational |
Hgene | IFNAR1 | P17181 | DB00011 | Interferon alfa-n1 | Interferon alpha/beta receptor 1 | biotech | approved|investigational |
Hgene | IFNAR1 | P17181 | DB00034 | Interferon Alfa-2a, Recombinant | Interferon alpha/beta receptor 1 | biotech | approved|investigational |
Hgene | IFNAR1 | P17181 | DB00060 | Interferon beta-1a | Interferon alpha/beta receptor 1 | biotech | approved|investigational |
Hgene | IFNAR1 | P17181 | DB00069 | Interferon alfacon-1 | Interferon alpha/beta receptor 1 | biotech | approved|investigational |
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RelatedDiseases for IFNAR1_DCLRE1C |
Diseases associated with fusion partners. (DisGeNet 4.0) |
Partner | Gene | Disease ID | Disease name | # pubmeds | Source |
Hgene | IFNAR1 | C0042769 | Virus Diseases | 1 | CTD_human |
Hgene | IFNAR1 | C0086132 | Depressive Symptoms | 1 | PSYGENET |
Hgene | IFNAR1 | C0338715 | Drug-induced depressive state | 1 | PSYGENET |
Tgene | DCLRE1C | C1865370 | Severe combined immunodeficiency with sensitivity to ionizing radiation | 1 | CTD_human;ORPHANET;UNIPROT |
Tgene | DCLRE1C | C2700553 | Omenn Syndrome | 1 | ORPHANET;UNIPROT |