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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: 17081

FusionGeneSummary for IFNAR1_DCLRE1C

check button Fusion gene summary
Fusion gene informationFusion gene name: IFNAR1_DCLRE1C
Fusion gene ID: 17081
HgeneTgene
Gene symbol

IFNAR1

DCLRE1C

Gene ID

3454

64421

Gene nameinterferon alpha and beta receptor subunit 1DNA cross-link repair 1C
SynonymsAVP|IFN-alpha-REC|IFNAR|IFNBR|IFRCA-SCID|DCLREC1C|RS-SCID|SCIDA|SNM1C
Cytomap

21q22.11

10p13

Type of geneprotein-codingprotein-coding
Descriptioninterferon 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 1interfprotein artemisDNA cross-link repair 1C (PSO2 homolog, S. cerevisiae)SNM1 homolog CSNM1-like proteinsevere combined immunodeficiency, type a (Athabascan)
Modification date2018052320180523
UniProtAcc

P17181

Q96SD1

Ensembl transtripts involved in fusion geneENST00000416947, ENST00000493503, 
ENST00000270139, ENST00000442357, 
ENST00000378289, ENST00000453695, 
ENST00000378246, ENST00000357717, 
ENST00000378278, ENST00000396817, 
ENST00000378254, ENST00000378255, 
ENST00000378249, ENST00000378258, 
ENST00000378242, ENST00000492201, 
Fusion gene scores* DoF score4 X 4 X 2=324 X 3 X 3=36
# samples 44
** MAII scorelog2(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)

check button Gene ontology of each fusion partner gene with evidence of Inferred from Direct Assay (IDA) from Entrez
PartnerGeneGO IDGO termPubMed ID
HgeneIFNAR1

GO:0060337

type I interferon signaling pathway

7665574


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
TCGALDLUADTCGA-O1-A52J-01AIFNAR1chr21

34713480

+DCLRE1Cchr10

14951329

-
* 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
5CDS-intronENST00000416947ENST00000378289IFNAR1chr21

34713480

+DCLRE1Cchr10

14951329

-
5CDS-intronENST00000416947ENST00000453695IFNAR1chr21

34713480

+DCLRE1Cchr10

14951329

-
5CDS-intronENST00000416947ENST00000378246IFNAR1chr21

34713480

+DCLRE1Cchr10

14951329

-
5CDS-intronENST00000416947ENST00000357717IFNAR1chr21

34713480

+DCLRE1Cchr10

14951329

-
5CDS-intronENST00000416947ENST00000378278IFNAR1chr21

34713480

+DCLRE1Cchr10

14951329

-
5CDS-intronENST00000416947ENST00000396817IFNAR1chr21

34713480

+DCLRE1Cchr10

14951329

-
5CDS-intronENST00000416947ENST00000378254IFNAR1chr21

34713480

+DCLRE1Cchr10

14951329

-
5CDS-intronENST00000416947ENST00000378255IFNAR1chr21

34713480

+DCLRE1Cchr10

14951329

-
5CDS-intronENST00000416947ENST00000378249IFNAR1chr21

34713480

+DCLRE1Cchr10

14951329

-
5CDS-intronENST00000416947ENST00000378258IFNAR1chr21

34713480

+DCLRE1Cchr10

14951329

-
5CDS-intronENST00000416947ENST00000378242IFNAR1chr21

34713480

+DCLRE1Cchr10

14951329

-
5CDS-5UTRENST00000416947ENST00000492201IFNAR1chr21

34713480

+DCLRE1Cchr10

14951329

-
intron-intronENST00000493503ENST00000378289IFNAR1chr21

34713480

+DCLRE1Cchr10

14951329

-
intron-intronENST00000493503ENST00000453695IFNAR1chr21

34713480

+DCLRE1Cchr10

14951329

-
intron-intronENST00000493503ENST00000378246IFNAR1chr21

34713480

+DCLRE1Cchr10

14951329

-
intron-intronENST00000493503ENST00000357717IFNAR1chr21

34713480

+DCLRE1Cchr10

14951329

-
intron-intronENST00000493503ENST00000378278IFNAR1chr21

34713480

+DCLRE1Cchr10

14951329

-
intron-intronENST00000493503ENST00000396817IFNAR1chr21

34713480

+DCLRE1Cchr10

14951329

-
intron-intronENST00000493503ENST00000378254IFNAR1chr21

34713480

+DCLRE1Cchr10

14951329

-
intron-intronENST00000493503ENST00000378255IFNAR1chr21

34713480

+DCLRE1Cchr10

14951329

-
intron-intronENST00000493503ENST00000378249IFNAR1chr21

34713480

+DCLRE1Cchr10

14951329

-
intron-intronENST00000493503ENST00000378258IFNAR1chr21

34713480

+DCLRE1Cchr10

14951329

-
intron-intronENST00000493503ENST00000378242IFNAR1chr21

34713480

+DCLRE1Cchr10

14951329

-
intron-5UTRENST00000493503ENST00000492201IFNAR1chr21

34713480

+DCLRE1Cchr10

14951329

-
5CDS-intronENST00000270139ENST00000378289IFNAR1chr21

34713480

+DCLRE1Cchr10

14951329

-
5CDS-intronENST00000270139ENST00000453695IFNAR1chr21

34713480

+DCLRE1Cchr10

14951329

-
5CDS-intronENST00000270139ENST00000378246IFNAR1chr21

34713480

+DCLRE1Cchr10

14951329

-
5CDS-intronENST00000270139ENST00000357717IFNAR1chr21

34713480

+DCLRE1Cchr10

14951329

-
5CDS-intronENST00000270139ENST00000378278IFNAR1chr21

34713480

+DCLRE1Cchr10

14951329

-
5CDS-intronENST00000270139ENST00000396817IFNAR1chr21

34713480

+DCLRE1Cchr10

14951329

-
5CDS-intronENST00000270139ENST00000378254IFNAR1chr21

34713480

+DCLRE1Cchr10

14951329

-
5CDS-intronENST00000270139ENST00000378255IFNAR1chr21

34713480

+DCLRE1Cchr10

14951329

-
5CDS-intronENST00000270139ENST00000378249IFNAR1chr21

34713480

+DCLRE1Cchr10

14951329

-
5CDS-intronENST00000270139ENST00000378258IFNAR1chr21

34713480

+DCLRE1Cchr10

14951329

-
5CDS-intronENST00000270139ENST00000378242IFNAR1chr21

34713480

+DCLRE1Cchr10

14951329

-
5CDS-5UTRENST00000270139ENST00000492201IFNAR1chr21

34713480

+DCLRE1Cchr10

14951329

-
5CDS-intronENST00000442357ENST00000378289IFNAR1chr21

34713480

+DCLRE1Cchr10

14951329

-
5CDS-intronENST00000442357ENST00000453695IFNAR1chr21

34713480

+DCLRE1Cchr10

14951329

-
5CDS-intronENST00000442357ENST00000378246IFNAR1chr21

34713480

+DCLRE1Cchr10

14951329

-
5CDS-intronENST00000442357ENST00000357717IFNAR1chr21

34713480

+DCLRE1Cchr10

14951329

-
5CDS-intronENST00000442357ENST00000378278IFNAR1chr21

34713480

+DCLRE1Cchr10

14951329

-
5CDS-intronENST00000442357ENST00000396817IFNAR1chr21

34713480

+DCLRE1Cchr10

14951329

-
5CDS-intronENST00000442357ENST00000378254IFNAR1chr21

34713480

+DCLRE1Cchr10

14951329

-
5CDS-intronENST00000442357ENST00000378255IFNAR1chr21

34713480

+DCLRE1Cchr10

14951329

-
5CDS-intronENST00000442357ENST00000378249IFNAR1chr21

34713480

+DCLRE1Cchr10

14951329

-
5CDS-intronENST00000442357ENST00000378258IFNAR1chr21

34713480

+DCLRE1Cchr10

14951329

-
5CDS-intronENST00000442357ENST00000378242IFNAR1chr21

34713480

+DCLRE1Cchr10

14951329

-
5CDS-5UTRENST00000442357ENST00000492201IFNAR1chr21

34713480

+DCLRE1Cchr10

14951329

-

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FusionProtFeatures for IFNAR1_DCLRE1C


check buttonMain function of each fusion partner protein. (from UniProt)
HgeneTgene
IFNAR1

P17181

DCLRE1C

Q96SD1


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 IFNAR1_DCLRE1C


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 IFNAR1_DCLRE1C


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
IFNAR1PRMT1, TYK2, STAT2, PIK3R1, STAT3, AP2M1, FBXW11, BTRC, PRKD2, SOCS1, STAT6, GNB2L1, IFNAR2, IFNB1, TNFRSF10A, TRIM25, USP7DCLRE1CPRKDC, 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


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


Top

RelatedDrugs for IFNAR1_DCLRE1C


check button Drugs targeting genes involved in this fusion gene.
(DrugBank Version 5.1.0 2018-04-02)
PartnerGeneUniProtAccDrugBank IDDrug nameDrug activityDrug typeDrug status
HgeneIFNAR1P17181DB00022Peginterferon alfa-2bInterferon alpha/beta receptor 1biotechapproved
HgeneIFNAR1P17181DB00068Interferon beta-1bInterferon alpha/beta receptor 1biotechapproved
HgeneIFNAR1P17181DB00105Interferon Alfa-2b, RecombinantInterferon alpha/beta receptor 1biotechapproved
HgeneIFNAR1P17181DB00008Peginterferon alfa-2aInterferon alpha/beta receptor 1biotechapproved|investigational
HgeneIFNAR1P17181DB00011Interferon alfa-n1Interferon alpha/beta receptor 1biotechapproved|investigational
HgeneIFNAR1P17181DB00034Interferon Alfa-2a, RecombinantInterferon alpha/beta receptor 1biotechapproved|investigational
HgeneIFNAR1P17181DB00060Interferon beta-1aInterferon alpha/beta receptor 1biotechapproved|investigational
HgeneIFNAR1P17181DB00069Interferon alfacon-1Interferon alpha/beta receptor 1biotechapproved|investigational

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RelatedDiseases for IFNAR1_DCLRE1C


check button Diseases associated with fusion partners.
(DisGeNet 4.0)
PartnerGeneDisease IDDisease name# pubmedsSource
HgeneIFNAR1C0042769Virus Diseases1CTD_human
HgeneIFNAR1C0086132Depressive Symptoms1PSYGENET
HgeneIFNAR1C0338715Drug-induced depressive state1PSYGENET
TgeneDCLRE1CC1865370Severe combined immunodeficiency with sensitivity to ionizing radiation1CTD_human;ORPHANET;UNIPROT
TgeneDCLRE1CC2700553Omenn Syndrome1ORPHANET;UNIPROT