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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:FCHSD2-ANO1 (FusionGDB2 ID:29980)

Fusion Gene Summary for FCHSD2-ANO1

check button Fusion gene summary
Fusion gene informationFusion gene name: FCHSD2-ANO1
Fusion gene ID: 29980
HgeneTgene
Gene symbol

FCHSD2

ANO1

Gene ID

9873

55107

Gene nameFCH and double SH3 domains 2anoctamin 1
SynonymsNWK|NWK1|SH3MD3DOG1|ORAOV2|TAOS2|TMEM16A
Cytomap

11q13.4

11q13.3

Type of geneprotein-codingprotein-coding
DescriptionF-BAR and double SH3 domains protein 2FCH and double SH3 domains protein 2SH3 multiple domains 3SH3 multiple domains protein 3caromnervous wreck homologprotein nervous wreck 1anoctamin-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

O94868

Q9NW15

Ensembl transtripts involved in fusion geneENST00000409314, ENST00000409418, 
ENST00000409853, ENST00000458644, 
ENST00000311172, ENST00000409263, 
ENST00000525494, ENST00000316296, 
ENST00000530676, ENST00000531349, 
ENST00000355303, ENST00000398543, 
ENST00000538023, 
Fusion gene scores* DoF score43 X 26 X 16=1788819 X 28 X 10=5320
# samples 5936
** MAII scorelog2(59/17888*10)=-4.92213332859399
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: FCHSD2 [Title/Abstract] AND ANO1 [Title/Abstract] AND fusion [Title/Abstract]

Most frequent breakpointFCHSD2(72851075)-ANO1(70026109), # samples:1
Anticipated loss of major functional domain due to fusion event.FCHSD2-ANO1 seems lost the major protein functional domain in Hgene partner, which is a essential gene due to the frame-shifted ORF.
FCHSD2-ANO1 seems lost the major protein functional domain in Tgene partner, which is a essential gene due to the frame-shifted ORF.
FCHSD2-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 FCHSD2 (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
ChimerDB4ESCATCGA-LN-A4A4FCHSD2chr11

72851075

-ANO1chr11

70026109

+


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Fusion Gene ORF analysis for FCHSD2-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
5CDS-3UTRENST00000409314ENST00000525494FCHSD2chr11

72851075

-ANO1chr11

70026109

+
5CDS-3UTRENST00000409418ENST00000525494FCHSD2chr11

72851075

-ANO1chr11

70026109

+
5CDS-intronENST00000409314ENST00000316296FCHSD2chr11

72851075

-ANO1chr11

70026109

+
5CDS-intronENST00000409314ENST00000530676FCHSD2chr11

72851075

-ANO1chr11

70026109

+
5CDS-intronENST00000409314ENST00000531349FCHSD2chr11

72851075

-ANO1chr11

70026109

+
5CDS-intronENST00000409418ENST00000316296FCHSD2chr11

72851075

-ANO1chr11

70026109

+
5CDS-intronENST00000409418ENST00000530676FCHSD2chr11

72851075

-ANO1chr11

70026109

+
5CDS-intronENST00000409418ENST00000531349FCHSD2chr11

72851075

-ANO1chr11

70026109

+
5UTR-3CDSENST00000409853ENST00000355303FCHSD2chr11

72851075

-ANO1chr11

70026109

+
5UTR-3CDSENST00000409853ENST00000398543FCHSD2chr11

72851075

-ANO1chr11

70026109

+
5UTR-3CDSENST00000409853ENST00000538023FCHSD2chr11

72851075

-ANO1chr11

70026109

+
5UTR-3CDSENST00000458644ENST00000355303FCHSD2chr11

72851075

-ANO1chr11

70026109

+
5UTR-3CDSENST00000458644ENST00000398543FCHSD2chr11

72851075

-ANO1chr11

70026109

+
5UTR-3CDSENST00000458644ENST00000538023FCHSD2chr11

72851075

-ANO1chr11

70026109

+
5UTR-3UTRENST00000409853ENST00000525494FCHSD2chr11

72851075

-ANO1chr11

70026109

+
5UTR-3UTRENST00000458644ENST00000525494FCHSD2chr11

72851075

-ANO1chr11

70026109

+
5UTR-intronENST00000409853ENST00000316296FCHSD2chr11

72851075

-ANO1chr11

70026109

+
5UTR-intronENST00000409853ENST00000530676FCHSD2chr11

72851075

-ANO1chr11

70026109

+
5UTR-intronENST00000409853ENST00000531349FCHSD2chr11

72851075

-ANO1chr11

70026109

+
5UTR-intronENST00000458644ENST00000316296FCHSD2chr11

72851075

-ANO1chr11

70026109

+
5UTR-intronENST00000458644ENST00000530676FCHSD2chr11

72851075

-ANO1chr11

70026109

+
5UTR-intronENST00000458644ENST00000531349FCHSD2chr11

72851075

-ANO1chr11

70026109

+
Frame-shiftENST00000409314ENST00000355303FCHSD2chr11

72851075

-ANO1chr11

70026109

+
Frame-shiftENST00000409314ENST00000398543FCHSD2chr11

72851075

-ANO1chr11

70026109

+
Frame-shiftENST00000409314ENST00000538023FCHSD2chr11

72851075

-ANO1chr11

70026109

+
Frame-shiftENST00000409418ENST00000355303FCHSD2chr11

72851075

-ANO1chr11

70026109

+
Frame-shiftENST00000409418ENST00000398543FCHSD2chr11

72851075

-ANO1chr11

70026109

+
Frame-shiftENST00000409418ENST00000538023FCHSD2chr11

72851075

-ANO1chr11

70026109

+
intron-3CDSENST00000311172ENST00000355303FCHSD2chr11

72851075

-ANO1chr11

70026109

+
intron-3CDSENST00000311172ENST00000398543FCHSD2chr11

72851075

-ANO1chr11

70026109

+
intron-3CDSENST00000311172ENST00000538023FCHSD2chr11

72851075

-ANO1chr11

70026109

+
intron-3CDSENST00000409263ENST00000355303FCHSD2chr11

72851075

-ANO1chr11

70026109

+
intron-3CDSENST00000409263ENST00000398543FCHSD2chr11

72851075

-ANO1chr11

70026109

+
intron-3CDSENST00000409263ENST00000538023FCHSD2chr11

72851075

-ANO1chr11

70026109

+
intron-3UTRENST00000311172ENST00000525494FCHSD2chr11

72851075

-ANO1chr11

70026109

+
intron-3UTRENST00000409263ENST00000525494FCHSD2chr11

72851075

-ANO1chr11

70026109

+
intron-intronENST00000311172ENST00000316296FCHSD2chr11

72851075

-ANO1chr11

70026109

+
intron-intronENST00000311172ENST00000530676FCHSD2chr11

72851075

-ANO1chr11

70026109

+
intron-intronENST00000311172ENST00000531349FCHSD2chr11

72851075

-ANO1chr11

70026109

+
intron-intronENST00000409263ENST00000316296FCHSD2chr11

72851075

-ANO1chr11

70026109

+
intron-intronENST00000409263ENST00000530676FCHSD2chr11

72851075

-ANO1chr11

70026109

+
intron-intronENST00000409263ENST00000531349FCHSD2chr11

72851075

-ANO1chr11

70026109

+

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 FCHSD2-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)
FCHSD2chr1172851075-ANO1chr1170026109+3.58E-091
FCHSD2chr1172851075-ANO1chr1170026109+3.58E-091

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.
genomic feature of top 1%

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Fusion Protein Features for FCHSD2-ANO1


check button Four levels of functional features of fusion genes
Go to FGviewer search page for the most frequent breakpoint (https://ccsmweb.uth.edu/FGviewer/:72851075/:70026109)
- FGviewer provides the online visualization of the retention search of the protein functional features across DNA, RNA, protein, and pathological levels.
- How to search
1. Put your fusion gene symbol.
2. Press the tab key until there will be shown the breakpoint information filled.
4. Go down and press 'Search' tab twice.
4. Go down to have the hyperlink of the search result.
5. Click the hyperlink.
6. See the FGviewer result for your fusion gene.
FGviewer

check buttonMain function of each fusion partner protein. (from UniProt)
HgeneTgene
FCHSD2

O94868

ANO1

Q9NW15

FUNCTION: Adapter protein that plays a role in endocytosis via clathrin-coated pits. Contributes to the internalization of cell surface receptors, such as integrin ITGB1 and transferrin receptor (PubMed:29887380). Promotes endocytosis of EGFR in cancer cells, and thereby contributes to the down-regulation of EGFR signaling (PubMed:30249660). Recruited to clathrin-coated pits during a mid-to-late stage of assembly, where it is required for normal progress from U-shaped intermediate stage pits to terminal, omega-shaped pits (PubMed:29887380). Binds to membranes enriched in phosphatidylinositol 3,4-bisphosphate or phosphatidylinositol 3,4,5-trisphosphate (PubMed:29887380). When bound to membranes, promotes actin polymerization via its interaction with WAS and/or WASL which leads to the activation of the Arp2/3 complex. Does not promote actin polymerisation in the absence of membranes (PubMed:29887380). {ECO:0000269|PubMed:29887380, ECO:0000269|PubMed:30249660}.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 FCHSD2-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 FCHSD2-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 FCHSD2-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 FCHSD2-ANO1


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