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Center for Computational Systems Medicine
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Fusion Gene Summary

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Fusion Gene ORF analysis

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Fusion Genomic Features

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Fusion Protein Features

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Fusion Gene Sequence

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Fusion Gene PPI analysis

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Related Drugs

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Related Diseases

Fusion gene:PRKRIR-ANO1 (FusionGDB2 ID:68446)

Fusion Gene Summary for PRKRIR-ANO1

check button Fusion gene summary
Fusion gene informationFusion gene name: PRKRIR-ANO1
Fusion gene ID: 68446
HgeneTgene
Gene symbol

PRKRIR

ANO1

Gene ID

5612

55107

Gene nameTHAP domain containing 12anoctamin 1
SynonymsDAP4|P52rIPK|PRKRIR|THAP0DOG1|ORAOV2|TAOS2|TMEM16A
Cytomap

11q13.5

11q13.3

Type of geneprotein-codingprotein-coding
Description52 kDa repressor of the inhibitor of the protein kinase58 kDa interferon-induced protein kinase-interacting proteinP58IPK-regulatory proteinTHAP domain-containing protein 0THAP domain-containing protein 12death-associated protein 4inhibitor of proteanoctamin-1Ca2+-activated Cl- channelanoctamin 1, calcium activated chloride channelcalcium activated chloride channeldiscovered on gastrointestinal stromal tumors protein 1oral cancer overexpressed 2transmembrane protein 16A (eight membrane-spannin
Modification date2020031320200313
UniProtAcc.

Q9NW15

Ensembl transtripts involved in fusion geneENST00000260045, ENST00000531878, 
ENST00000355303, ENST00000398543, 
ENST00000538023, ENST00000316296, 
ENST00000530676, ENST00000531349, 
ENST00000525494, 
Fusion gene scores* DoF score6 X 3 X 4=7219 X 28 X 10=5320
# samples 736
** MAII scorelog2(7/72*10)=-0.0406419844973459
possibly effective Gene in Pan-Cancer Fusion Genes (peGinPCFGs).
DoF>8 and MAII<0		log2(36/5320*10)=-3.88535743405888
possibly effective Gene in Pan-Cancer Fusion Genes (peGinPCFGs).
DoF>8 and MAII<0
Context

PubMed: PRKRIR [Title/Abstract] AND ANO1 [Title/Abstract] AND fusion [Title/Abstract]

Most frequent breakpointPRKRIR(76091792)-ANO1(70016993), # samples:2
Anticipated loss of major functional domain due to fusion event.PRKRIR-ANO1 seems lost the major protein functional domain in Hgene partner, which is a essential gene due to the frame-shifted ORF.
PRKRIR-ANO1 seems lost the major protein functional domain in Tgene partner, which is a essential gene due to the frame-shifted ORF.
PRKRIR-ANO1 seems lost the major protein functional domain in Tgene partner, which is a IUPHAR drug target due to the frame-shifted ORF.
* 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
TgeneANO1

GO:0006812

cation transport

22946059


check buttonFusion gene breakpoints across PRKRIR (5'-gene)
* Click on the image to open the UCSC genome browser with custom track showing this image in a new window.

check buttonFusion gene breakpoints across ANO1 (3'-gene)
* Click on the image to open the UCSC genome browser with custom track showing this image in a new window.

check button Fusion gene information from two resources (ChiTars 5.0 and ChimerDB 4.0)
* 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.
SourceDiseaseSampleHgeneHchrHbpHstrandTgeneTchrTbpTstrand
ChimerDB4BRCATCGA-5T-A9QAPRKRIRchr11

76091791

-ANO1chr11

70016992

+
ChimerDB4BRCATCGA-5T-A9QA-01APRKRIRchr11

76091792

-ANO1chr11

70016993

+
ChimerDB4BRCATCGA-5T-A9QA-01APRKRIRchr11

76091792

-ANO1chr11

70016993

+


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Fusion Gene ORF analysis for PRKRIR-ANO1

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
Frame-shiftENST00000260045ENST00000355303PRKRIRchr11

76091791

-ANO1chr11

70016992

+
Frame-shiftENST00000260045ENST00000398543PRKRIRchr11

76091791

-ANO1chr11

70016992

+
Frame-shiftENST00000260045ENST00000538023PRKRIRchr11

76091791

-ANO1chr11

70016992

+
5CDS-intronENST00000260045ENST00000316296PRKRIRchr11

76091791

-ANO1chr11

70016992

+
5CDS-intronENST00000260045ENST00000530676PRKRIRchr11

76091791

-ANO1chr11

70016992

+
5CDS-intronENST00000260045ENST00000531349PRKRIRchr11

76091791

-ANO1chr11

70016992

+
5CDS-3UTRENST00000260045ENST00000525494PRKRIRchr11

76091791

-ANO1chr11

70016992

+
intron-3CDSENST00000531878ENST00000355303PRKRIRchr11

76091791

-ANO1chr11

70016992

+
intron-3CDSENST00000531878ENST00000398543PRKRIRchr11

76091791

-ANO1chr11

70016992

+
intron-3CDSENST00000531878ENST00000538023PRKRIRchr11

76091791

-ANO1chr11

70016992

+
intron-intronENST00000531878ENST00000316296PRKRIRchr11

76091791

-ANO1chr11

70016992

+
intron-intronENST00000531878ENST00000530676PRKRIRchr11

76091791

-ANO1chr11

70016992

+
intron-intronENST00000531878ENST00000531349PRKRIRchr11

76091791

-ANO1chr11

70016992

+
intron-3UTRENST00000531878ENST00000525494PRKRIRchr11

76091791

-ANO1chr11

70016992

+
Frame-shiftENST00000260045ENST00000355303PRKRIRchr11

76091792

-ANO1chr11

70016993

+
Frame-shiftENST00000260045ENST00000398543PRKRIRchr11

76091792

-ANO1chr11

70016993

+
Frame-shiftENST00000260045ENST00000538023PRKRIRchr11

76091792

-ANO1chr11

70016993

+
5CDS-intronENST00000260045ENST00000316296PRKRIRchr11

76091792

-ANO1chr11

70016993

+
5CDS-intronENST00000260045ENST00000530676PRKRIRchr11

76091792

-ANO1chr11

70016993

+
5CDS-intronENST00000260045ENST00000531349PRKRIRchr11

76091792

-ANO1chr11

70016993

+
5CDS-3UTRENST00000260045ENST00000525494PRKRIRchr11

76091792

-ANO1chr11

70016993

+
intron-3CDSENST00000531878ENST00000355303PRKRIRchr11

76091792

-ANO1chr11

70016993

+
intron-3CDSENST00000531878ENST00000398543PRKRIRchr11

76091792

-ANO1chr11

70016993

+
intron-3CDSENST00000531878ENST00000538023PRKRIRchr11

76091792

-ANO1chr11

70016993

+
intron-intronENST00000531878ENST00000316296PRKRIRchr11

76091792

-ANO1chr11

70016993

+
intron-intronENST00000531878ENST00000530676PRKRIRchr11

76091792

-ANO1chr11

70016993

+
intron-intronENST00000531878ENST00000531349PRKRIRchr11

76091792

-ANO1chr11

70016993

+
intron-3UTRENST00000531878ENST00000525494PRKRIRchr11

76091792

-ANO1chr11

70016993

+

check buttonORFfinder result based on the fusion transcript sequence of in-frame fusion genes.
HenstTenstHgeneHchrHbpHstrandTgeneTchrTbpTstrandSeq length
(transcript)		BP loci
(transcript)		Predicted start
(transcript)		Predicted stop
(transcript)		Seq length
(amino acids)

check buttonDeepORF prediction of the coding potential based on the fusion transcript sequence of in-frame fusion genes. DeepORF is a coding potential classifier based on convolutional neural network by comparing the real Ribo-seq data. If the no-coding score < 0.5 and coding score > 0.5, then the in-frame fusion transcript is predicted as being likely translated.
HenstTenstHgeneHchrHbpHstrandTgeneTchrTbpTstrandNo-coding scoreCoding score

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Fusion Genomic Features for PRKRIR-ANO1


check buttonFusionAI prediction of the potential fusion gene breakpoint based on the pre-mature RNA sequence context (+/- 5kb of individual partner genes, total 20kb length sequence). FusionAI is a fusion gene breakpoint classifier based on convolutional neural network by comparing the fusion positive and negative sequence context of ~ 20K fusion gene data. From here, we can have the relative potentency of the 20K genomic sequence how individual sequnce will be likely used as the gene fusion breakpoints.
HgeneHchrHbpHstrandTgeneTchrTbpTstrand1-pp (fusion gene breakpoint)
PRKRIRchr1176091791-ANO1chr1170016992+0.0001237360.99987626
PRKRIRchr1176091791-ANO1chr1170016992+0.0001237360.99987626
PRKRIRchr1176091791-ANO1chr1170016992+0.0001237360.99987626
PRKRIRchr1176091791-ANO1chr1170016992+0.0001237360.99987626

check buttonDistribution of 44 human genomic features loci across 20kb length fusion breakpoint regions. We integrated a total of 44 different types of human genomic feature loci information across five big categories including virus integration sites, repeats, structural variants, chromatin states, and gene expression regulation. More details are in help page.

check buttonDistribution of 44 human genomic features loci across 20kb length fusion breakpoint regions that are ovelapped with the top 1% feature importance score regions. More details are in help page.

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Fusion Protein Features for PRKRIR-ANO1


check button Go to

FGviewer for the breakpoints of :-:

.
- FGviewer provides the online visualization of the retention search of the protein functional features across DNA, RNA, protein, and pathological levels.
FGviewer

check buttonMain function of each fusion partner protein. (from UniProt)
HgeneTgene
.ANO1

Q9NW15

FUNCTION: Might normally function as a transcriptional repressor. EWS-fusion-proteins (EFPS) may play a role in the tumorigenic process. They may disturb gene expression by mimicking, or interfering with the normal function of CTD-POLII within the transcription initiation complex. They may also contribute to an aberrant activation of the fusion protein target genes.FUNCTION: Does not exhibit calcium-activated chloride channel (CaCC) activity. Can inhibit the activity of ANO1. {ECO:0000269|PubMed:20056604, ECO:0000269|PubMed:22946059}.

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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Fusion Gene Sequence for PRKRIR-ANO1


check button For in-frame fusion transcripts, we provide the fusion transcript sequences and fusion amino acid sequences. To have fusion amino acid sequence, we ran ORFfinder and chose the longest ORF among the all predicted ones.

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Fusion Gene PPI Analysis for PRKRIR-ANO1


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


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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Related Drugs for PRKRIR-ANO1


check button Drugs targeting genes involved in this fusion gene.
(DrugBank Version 5.1.8 2021-05-08)
PartnerGeneUniProtAccDrugBank IDDrug nameDrug activityDrug typeDrug status

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Related Diseases for PRKRIR-ANO1


check button Diseases associated with fusion partners.
(DisGeNet 4.0)
PartnerGeneDisease IDDisease name# pubmedsSource