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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:HIVEP3-ANO6 (FusionGDB2 ID:36548)

Fusion Gene Summary for HIVEP3-ANO6

check button Fusion gene summary
Fusion gene informationFusion gene name: HIVEP3-ANO6
Fusion gene ID: 36548
HgeneTgene
Gene symbol

HIVEP3

ANO6

Gene ID

59269

196527

Gene nameHIVEP zinc finger 3anoctamin 6
SynonymsKBP-1|KBP1|KRC|SHN3|Schnurri-3|ZAS3|ZNF40CBDPLT7|SCTS|TMEM16F
Cytomap

1p34.2

12q12

Type of geneprotein-codingprotein-coding
Descriptiontranscription factor HIVEP3ZAS family, member 3human immunodeficiency virus type I enhancer binding protein 3kappa-B and V(D)J recombination signal sequences-binding proteinkappa-binding protein 1zinc finger protein ZAS3anoctamin-6SCAN channelsmall-conductance calcium-activated nonselective cation channeltransmembrane protein 16F
Modification date2020031320200313
UniProtAcc

Q5T1R4

Q4KMQ2

Ensembl transtripts involved in fusion geneENST00000372583, ENST00000372584, 
ENST00000247584, ENST00000429157, 
ENST00000460604, 		ENST00000320560, 
ENST00000423947, ENST00000425752, 
ENST00000426898, ENST00000435642, 
ENST00000441606, 
Fusion gene scores* DoF score21 X 18 X 10=37809 X 9 X 7=567
# samples 259
** MAII scorelog2(25/3780*10)=-3.91838623444635
possibly effective Gene in Pan-Cancer Fusion Genes (peGinPCFGs).
DoF>8 and MAII<0		log2(9/567*10)=-2.65535182861255
possibly effective Gene in Pan-Cancer Fusion Genes (peGinPCFGs).
DoF>8 and MAII<0
Context

PubMed: HIVEP3 [Title/Abstract] AND ANO6 [Title/Abstract] AND fusion [Title/Abstract]

Most frequent breakpointHIVEP3(42384083)-ANO6(45725077), # samples:1
Anticipated loss of major functional domain due to fusion event.
* 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
HgeneHIVEP3

GO:0045893

positive regulation of transcription, DNA-templated

15790681

TgeneANO6

GO:0006812

cation transport

22946059


check buttonFusion gene breakpoints across HIVEP3 (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 ANO6 (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
ChimerDB4HNSCTCGA-CN-4735HIVEP3chr1

42384083

-ANO6chr12

45725077

+


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Fusion Gene ORF analysis for HIVEP3-ANO6

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
5UTR-3UTRENST00000372583ENST00000320560HIVEP3chr1

42384083

-ANO6chr12

45725077

+
5UTR-3UTRENST00000372583ENST00000423947HIVEP3chr1

42384083

-ANO6chr12

45725077

+
5UTR-3UTRENST00000372583ENST00000425752HIVEP3chr1

42384083

-ANO6chr12

45725077

+
5UTR-3UTRENST00000372583ENST00000426898HIVEP3chr1

42384083

-ANO6chr12

45725077

+
5UTR-3UTRENST00000372583ENST00000435642HIVEP3chr1

42384083

-ANO6chr12

45725077

+
5UTR-3UTRENST00000372583ENST00000441606HIVEP3chr1

42384083

-ANO6chr12

45725077

+
5UTR-3UTRENST00000372584ENST00000320560HIVEP3chr1

42384083

-ANO6chr12

45725077

+
5UTR-3UTRENST00000372584ENST00000423947HIVEP3chr1

42384083

-ANO6chr12

45725077

+
5UTR-3UTRENST00000372584ENST00000425752HIVEP3chr1

42384083

-ANO6chr12

45725077

+
5UTR-3UTRENST00000372584ENST00000426898HIVEP3chr1

42384083

-ANO6chr12

45725077

+
5UTR-3UTRENST00000372584ENST00000435642HIVEP3chr1

42384083

-ANO6chr12

45725077

+
5UTR-3UTRENST00000372584ENST00000441606HIVEP3chr1

42384083

-ANO6chr12

45725077

+
intron-3UTRENST00000247584ENST00000320560HIVEP3chr1

42384083

-ANO6chr12

45725077

+
intron-3UTRENST00000247584ENST00000423947HIVEP3chr1

42384083

-ANO6chr12

45725077

+
intron-3UTRENST00000247584ENST00000425752HIVEP3chr1

42384083

-ANO6chr12

45725077

+
intron-3UTRENST00000247584ENST00000426898HIVEP3chr1

42384083

-ANO6chr12

45725077

+
intron-3UTRENST00000247584ENST00000435642HIVEP3chr1

42384083

-ANO6chr12

45725077

+
intron-3UTRENST00000247584ENST00000441606HIVEP3chr1

42384083

-ANO6chr12

45725077

+
intron-3UTRENST00000429157ENST00000320560HIVEP3chr1

42384083

-ANO6chr12

45725077

+
intron-3UTRENST00000429157ENST00000423947HIVEP3chr1

42384083

-ANO6chr12

45725077

+
intron-3UTRENST00000429157ENST00000425752HIVEP3chr1

42384083

-ANO6chr12

45725077

+
intron-3UTRENST00000429157ENST00000426898HIVEP3chr1

42384083

-ANO6chr12

45725077

+
intron-3UTRENST00000429157ENST00000435642HIVEP3chr1

42384083

-ANO6chr12

45725077

+
intron-3UTRENST00000429157ENST00000441606HIVEP3chr1

42384083

-ANO6chr12

45725077

+
intron-3UTRENST00000460604ENST00000320560HIVEP3chr1

42384083

-ANO6chr12

45725077

+
intron-3UTRENST00000460604ENST00000423947HIVEP3chr1

42384083

-ANO6chr12

45725077

+
intron-3UTRENST00000460604ENST00000425752HIVEP3chr1

42384083

-ANO6chr12

45725077

+
intron-3UTRENST00000460604ENST00000426898HIVEP3chr1

42384083

-ANO6chr12

45725077

+
intron-3UTRENST00000460604ENST00000435642HIVEP3chr1

42384083

-ANO6chr12

45725077

+
intron-3UTRENST00000460604ENST00000441606HIVEP3chr1

42384083

-ANO6chr12

45725077

+

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 HIVEP3-ANO6


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)
HIVEP3chr142384083-ANO6chr1245725077+5.35E-050.9999465
HIVEP3chr142384083-ANO6chr1245725077+5.35E-050.9999465

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 HIVEP3-ANO6


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/:42384083/:45725077)
- 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
HIVEP3

Q5T1R4

ANO6

Q4KMQ2

FUNCTION: Plays a role of transcription factor; binds to recognition signal sequences (Rss heptamer) for somatic recombination of immunoglobulin and T-cell receptor gene segments; Binds also to the kappa-B motif of gene such as S100A4, involved in cell progression and differentiation. Kappa-B motif is a gene regulatory element found in promoters and enhancers of genes involved in immunity, inflammation, and growth and that responds to viral antigens, mitogens, and cytokines. Involvement of HIVEP3 in cell growth is strengthened by the fact that its down-regulation promotes cell cycle progression with ultimate formation of multinucleated giant cells. Strongly inhibits TNF-alpha-induced NF-kappa-B activation; Interferes with nuclear factor NF-kappa-B by several mechanisms: as transcription factor, by competing for Kappa-B motif and by repressing transcription in the nucleus; through a non transcriptional process, by inhibiting nuclear translocation of RELA by association with TRAF2, an adapter molecule in the tumor necrosis factor signaling, which blocks the formation of IKK complex. Interaction with TRAF proteins inhibits both NF-Kappa-B-mediated and c-Jun N-terminal kinase/JNK-mediated responses that include apoptosis and proinflammatory cytokine gene expression. Positively regulates the expression of IL2 in T-cell. Essential regulator of adult bone formation. {ECO:0000269|PubMed:11161801}.FUNCTION: Small-conductance calcium-activated nonselective cation (SCAN) channel which acts as a regulator of phospholipid scrambling in platelets and osteoblasts. Phospholipid scrambling results in surface exposure of phosphatidylserine which in platelets is essential to trigger the clotting system whereas in osteoblasts is essential for the deposition of hydroxyapatite during bone mineralization. Has calcium-dependent phospholipid scramblase activity; scrambles phosphatidylserine, phosphatidylcholine and galactosylceramide (By similarity). Can generate outwardly rectifying chloride channel currents in airway epithelial cells and Jurkat T lymphocytes. {ECO:0000250|UniProtKB:Q6P9J9, ECO:0000269|PubMed:20056604, ECO:0000269|PubMed:21107324, ECO:0000269|PubMed:21908539, ECO:0000269|PubMed:22006324, 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 HIVEP3-ANO6


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 HIVEP3-ANO6


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 HIVEP3-ANO6


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 HIVEP3-ANO6


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