FusionGDB Logo

Home

Download

Statistics

Examples

Help

Contact
Center for Computational Systems Medicine
leaf

Fusion Gene Summary

leaf

Fusion Gene ORF analysis

leaf

Fusion Genomic Features

leaf

Fusion Protein Features

leaf

Fusion Gene Sequence

leaf

Fusion Gene PPI analysis

leaf

Related Drugs

leaf

Related Diseases

Fusion gene:ANKH-ANO6 (FusionGDB2 ID:4436)

Fusion Gene Summary for ANKH-ANO6

check button Fusion gene summary
Fusion gene informationFusion gene name: ANKH-ANO6
Fusion gene ID: 4436
HgeneTgene
Gene symbol

ANKH

ANO6

Gene ID

56172

196527

Gene nameANKH inorganic pyrophosphate transport regulatoranoctamin 6
SynonymsANK|CCAL2|CMDJ|CPPDD|HANK|MANK|SLC62A1BDPLT7|SCTS|TMEM16F
Cytomap

5p15.2

12q12

Type of geneprotein-codingprotein-coding
Descriptionprogressive ankylosis protein homologankylosis, progressive homologanoctamin-6SCAN channelsmall-conductance calcium-activated nonselective cation channeltransmembrane protein 16F
Modification date2020031320200313
UniProtAcc

Q9HCJ1

Q4KMQ2

Ensembl transtripts involved in fusion geneENST00000284268, ENST00000535119, 
ENST00000503939, 		ENST00000320560, 
ENST00000423947, ENST00000425752, 
ENST00000426898, ENST00000435642, 
ENST00000441606, 
Fusion gene scores* DoF score11 X 9 X 4=3969 X 9 X 7=567
# samples 129
** MAII scorelog2(12/396*10)=-1.72246602447109
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: ANKH [Title/Abstract] AND ANO6 [Title/Abstract] AND fusion [Title/Abstract]

Most frequent breakpointANKH(14741936)-ANO6(45695797), # samples:2
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
TgeneANO6

GO:0006812

cation transport

22946059


check buttonFusion gene breakpoints across ANKH (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
ChimerDB4SKCMTCGA-GN-A26D-06AANKHchr5

14741936

-ANO6chr12

45664245

+
ChimerDB4SKCMTCGA-GN-A26D-06AANKHchr5

14741936

-ANO6chr12

45695797

+


Top

Fusion Gene ORF analysis for ANKH-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
5CDS-intronENST00000284268ENST00000320560ANKHchr5

14741936

-ANO6chr12

45664245

+
5CDS-intronENST00000284268ENST00000320560ANKHchr5

14741936

-ANO6chr12

45695797

+
5CDS-intronENST00000284268ENST00000423947ANKHchr5

14741936

-ANO6chr12

45664245

+
5CDS-intronENST00000284268ENST00000423947ANKHchr5

14741936

-ANO6chr12

45695797

+
5CDS-intronENST00000284268ENST00000425752ANKHchr5

14741936

-ANO6chr12

45664245

+
5CDS-intronENST00000284268ENST00000425752ANKHchr5

14741936

-ANO6chr12

45695797

+
5CDS-intronENST00000284268ENST00000426898ANKHchr5

14741936

-ANO6chr12

45664245

+
5CDS-intronENST00000284268ENST00000426898ANKHchr5

14741936

-ANO6chr12

45695797

+
5CDS-intronENST00000284268ENST00000435642ANKHchr5

14741936

-ANO6chr12

45664245

+
5CDS-intronENST00000284268ENST00000435642ANKHchr5

14741936

-ANO6chr12

45695797

+
5CDS-intronENST00000284268ENST00000441606ANKHchr5

14741936

-ANO6chr12

45664245

+
5CDS-intronENST00000284268ENST00000441606ANKHchr5

14741936

-ANO6chr12

45695797

+
5CDS-intronENST00000535119ENST00000320560ANKHchr5

14741936

-ANO6chr12

45664245

+
5CDS-intronENST00000535119ENST00000320560ANKHchr5

14741936

-ANO6chr12

45695797

+
5CDS-intronENST00000535119ENST00000423947ANKHchr5

14741936

-ANO6chr12

45664245

+
5CDS-intronENST00000535119ENST00000423947ANKHchr5

14741936

-ANO6chr12

45695797

+
5CDS-intronENST00000535119ENST00000425752ANKHchr5

14741936

-ANO6chr12

45664245

+
5CDS-intronENST00000535119ENST00000425752ANKHchr5

14741936

-ANO6chr12

45695797

+
5CDS-intronENST00000535119ENST00000426898ANKHchr5

14741936

-ANO6chr12

45664245

+
5CDS-intronENST00000535119ENST00000426898ANKHchr5

14741936

-ANO6chr12

45695797

+
5CDS-intronENST00000535119ENST00000435642ANKHchr5

14741936

-ANO6chr12

45664245

+
5CDS-intronENST00000535119ENST00000435642ANKHchr5

14741936

-ANO6chr12

45695797

+
5CDS-intronENST00000535119ENST00000441606ANKHchr5

14741936

-ANO6chr12

45664245

+
5CDS-intronENST00000535119ENST00000441606ANKHchr5

14741936

-ANO6chr12

45695797

+
5UTR-intronENST00000503939ENST00000320560ANKHchr5

14741936

-ANO6chr12

45664245

+
5UTR-intronENST00000503939ENST00000320560ANKHchr5

14741936

-ANO6chr12

45695797

+
5UTR-intronENST00000503939ENST00000423947ANKHchr5

14741936

-ANO6chr12

45664245

+
5UTR-intronENST00000503939ENST00000423947ANKHchr5

14741936

-ANO6chr12

45695797

+
5UTR-intronENST00000503939ENST00000425752ANKHchr5

14741936

-ANO6chr12

45664245

+
5UTR-intronENST00000503939ENST00000425752ANKHchr5

14741936

-ANO6chr12

45695797

+
5UTR-intronENST00000503939ENST00000426898ANKHchr5

14741936

-ANO6chr12

45664245

+
5UTR-intronENST00000503939ENST00000426898ANKHchr5

14741936

-ANO6chr12

45695797

+
5UTR-intronENST00000503939ENST00000435642ANKHchr5

14741936

-ANO6chr12

45664245

+
5UTR-intronENST00000503939ENST00000435642ANKHchr5

14741936

-ANO6chr12

45695797

+
5UTR-intronENST00000503939ENST00000441606ANKHchr5

14741936

-ANO6chr12

45664245

+
5UTR-intronENST00000503939ENST00000441606ANKHchr5

14741936

-ANO6chr12

45695797

+

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

Top

Fusion Genomic Features for ANKH-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)
ANKHchr514741935-ANO6chr1245664244+0.0082545610.9917454
ANKHchr514741935-ANO6chr1245695796+4.32E-050.9999567
ANKHchr514741935-ANO6chr1245664244+0.0082545610.9917454
ANKHchr514741935-ANO6chr1245695796+4.32E-050.9999567

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%

Top

Fusion Protein Features for ANKH-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/:14741936/:45695797)
- 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
ANKH

Q9HCJ1

ANO6

Q4KMQ2

FUNCTION: Regulates intra- and extracellular levels of inorganic pyrophosphate (PPi), probably functioning as PPi transporter.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


Top

Fusion Gene Sequence for ANKH-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.

Top

Fusion Gene PPI Analysis for ANKH-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


Top

Related Drugs for ANKH-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

Top

Related Diseases for ANKH-ANO6


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