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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: 29070

FusionGeneSummary for PSD3_ANO1

check button Fusion gene summary
Fusion gene informationFusion gene name: PSD3_ANO1
Fusion gene ID: 29070
HgeneTgene
Gene symbol

PSD3

ANO1

Gene ID

23362

55107

Gene namepleckstrin and Sec7 domain containing 3anoctamin 1
SynonymsEFA6D|EFA6R|HCA67DOG1|ORAOV2|TAOS2|TMEM16A
Cytomap

8p22

11q13.3

Type of geneprotein-codingprotein-coding
DescriptionPH and SEC7 domain-containing protein 3ADP-ribosylation factor guanine nucleotide factor 6epididymis tissue protein Li 20mPexchange factor for ADP-ribosylation factor guanine nucleotide factor 6exchange factor for ADP-ribosylation factor guanine nucleanoctamin-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 date2018052320180519
UniProtAcc

Q9NYI0

Q5XXA6

Ensembl transtripts involved in fusion geneENST00000327040, ENST00000440756, 
ENST00000286485, ENST00000428502, 
ENST00000523619, ENST00000520789, 
ENST00000355303, ENST00000398543, 
ENST00000538023, ENST00000316296, 
ENST00000530676, ENST00000531349, 
ENST00000525494, 
Fusion gene scores* DoF score8 X 7 X 6=33615 X 14 X 7=1470
# samples 818
** MAII scorelog2(8/336*10)=-2.0703893278914
possibly effective Gene in Pan-Cancer Fusion Genes (peGinPCFGs).
DoF>8 and MAII<0		log2(18/1470*10)=-3.02974734339405
possibly effective Gene in Pan-Cancer Fusion Genes (peGinPCFGs).
DoF>8 and MAII<0
Context

PubMed: PSD3 [Title/Abstract] AND ANO1 [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
TgeneANO1

GO:0006812

cation transport

22946059


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
TCGALDHNSCTCGA-CN-4735-01APSD3chr8

18725184

-ANO1chr11

69933858

+
* 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
Frame-shiftENST00000327040ENST00000355303PSD3chr8

18725184

-ANO1chr11

69933858

+
5CDS-5UTRENST00000327040ENST00000398543PSD3chr8

18725184

-ANO1chr11

69933858

+
5CDS-5UTRENST00000327040ENST00000538023PSD3chr8

18725184

-ANO1chr11

69933858

+
5CDS-5UTRENST00000327040ENST00000316296PSD3chr8

18725184

-ANO1chr11

69933858

+
5CDS-5UTRENST00000327040ENST00000530676PSD3chr8

18725184

-ANO1chr11

69933858

+
5CDS-intronENST00000327040ENST00000531349PSD3chr8

18725184

-ANO1chr11

69933858

+
5CDS-intronENST00000327040ENST00000525494PSD3chr8

18725184

-ANO1chr11

69933858

+
Frame-shiftENST00000440756ENST00000355303PSD3chr8

18725184

-ANO1chr11

69933858

+
5CDS-5UTRENST00000440756ENST00000398543PSD3chr8

18725184

-ANO1chr11

69933858

+
5CDS-5UTRENST00000440756ENST00000538023PSD3chr8

18725184

-ANO1chr11

69933858

+
5CDS-5UTRENST00000440756ENST00000316296PSD3chr8

18725184

-ANO1chr11

69933858

+
5CDS-5UTRENST00000440756ENST00000530676PSD3chr8

18725184

-ANO1chr11

69933858

+
5CDS-intronENST00000440756ENST00000531349PSD3chr8

18725184

-ANO1chr11

69933858

+
5CDS-intronENST00000440756ENST00000525494PSD3chr8

18725184

-ANO1chr11

69933858

+
intron-3CDSENST00000286485ENST00000355303PSD3chr8

18725184

-ANO1chr11

69933858

+
intron-5UTRENST00000286485ENST00000398543PSD3chr8

18725184

-ANO1chr11

69933858

+
intron-5UTRENST00000286485ENST00000538023PSD3chr8

18725184

-ANO1chr11

69933858

+
intron-5UTRENST00000286485ENST00000316296PSD3chr8

18725184

-ANO1chr11

69933858

+
intron-5UTRENST00000286485ENST00000530676PSD3chr8

18725184

-ANO1chr11

69933858

+
intron-intronENST00000286485ENST00000531349PSD3chr8

18725184

-ANO1chr11

69933858

+
intron-intronENST00000286485ENST00000525494PSD3chr8

18725184

-ANO1chr11

69933858

+
intron-3CDSENST00000428502ENST00000355303PSD3chr8

18725184

-ANO1chr11

69933858

+
intron-5UTRENST00000428502ENST00000398543PSD3chr8

18725184

-ANO1chr11

69933858

+
intron-5UTRENST00000428502ENST00000538023PSD3chr8

18725184

-ANO1chr11

69933858

+
intron-5UTRENST00000428502ENST00000316296PSD3chr8

18725184

-ANO1chr11

69933858

+
intron-5UTRENST00000428502ENST00000530676PSD3chr8

18725184

-ANO1chr11

69933858

+
intron-intronENST00000428502ENST00000531349PSD3chr8

18725184

-ANO1chr11

69933858

+
intron-intronENST00000428502ENST00000525494PSD3chr8

18725184

-ANO1chr11

69933858

+
Frame-shiftENST00000523619ENST00000355303PSD3chr8

18725184

-ANO1chr11

69933858

+
5CDS-5UTRENST00000523619ENST00000398543PSD3chr8

18725184

-ANO1chr11

69933858

+
5CDS-5UTRENST00000523619ENST00000538023PSD3chr8

18725184

-ANO1chr11

69933858

+
5CDS-5UTRENST00000523619ENST00000316296PSD3chr8

18725184

-ANO1chr11

69933858

+
5CDS-5UTRENST00000523619ENST00000530676PSD3chr8

18725184

-ANO1chr11

69933858

+
5CDS-intronENST00000523619ENST00000531349PSD3chr8

18725184

-ANO1chr11

69933858

+
5CDS-intronENST00000523619ENST00000525494PSD3chr8

18725184

-ANO1chr11

69933858

+
intron-3CDSENST00000520789ENST00000355303PSD3chr8

18725184

-ANO1chr11

69933858

+
intron-5UTRENST00000520789ENST00000398543PSD3chr8

18725184

-ANO1chr11

69933858

+
intron-5UTRENST00000520789ENST00000538023PSD3chr8

18725184

-ANO1chr11

69933858

+
intron-5UTRENST00000520789ENST00000316296PSD3chr8

18725184

-ANO1chr11

69933858

+
intron-5UTRENST00000520789ENST00000530676PSD3chr8

18725184

-ANO1chr11

69933858

+
intron-intronENST00000520789ENST00000531349PSD3chr8

18725184

-ANO1chr11

69933858

+
intron-intronENST00000520789ENST00000525494PSD3chr8

18725184

-ANO1chr11

69933858

+

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FusionProtFeatures for PSD3_ANO1


check buttonMain function of each fusion partner protein. (from UniProt)
HgeneTgene
PSD3

Q9NYI0

ANO1

Q5XXA6

Guanine nucleotide exchange factor for ARF6.{ECO:0000250}. Calcium-activated chloride channel (CaCC) which plays arole in transepithelial anion transport and smooth musclecontraction. Required for the normal functioning of theinterstitial cells of Cajal (ICCs) which generate electricalpacemaker activity in gastrointestinal smooth muscles. Acts as amajor contributor to basal and stimulated chloride conductance inairway epithelial cells and plays an important role in trachealcartilage development. {ECO:0000269|PubMed:20056604,ECO:0000269|PubMed:21984732, ECO:0000269|PubMed:22178883,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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FusionGeneSequence for PSD3_ANO1


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 PSD3_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
PSD3MLH1, PMS2, ARAP1, MX1, TP53, CTDSPL, PTPRA, PTPRGANO1EWSR1


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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RelatedDrugs for PSD3_ANO1


check button Drugs targeting genes involved in this fusion gene.
(DrugBank Version 5.1.0 2018-04-02)
PartnerGeneUniProtAccDrugBank IDDrug nameDrug activityDrug typeDrug status

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RelatedDiseases for PSD3_ANO1


check button Diseases associated with fusion partners.
(DisGeNet 4.0)
PartnerGeneDisease IDDisease name# pubmedsSource
HgenePSD3C0017638Glioma1CTD_human
HgenePSD3C0036341Schizophrenia1PSYGENET
HgenePSD3C0236733Amphetamine-Related Disorders1CTD_human