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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:FAM222B-ATP9A (FusionGDB2 ID:28959)

Fusion Gene Summary for FAM222B-ATP9A

check button Fusion gene summary
Fusion gene informationFusion gene name: FAM222B-ATP9A
Fusion gene ID: 28959
HgeneTgene
Gene symbol

FAM222B

ATP9A

Gene ID

55731

10079

Gene namefamily with sequence similarity 222 member BATPase phospholipid transporting 9A (putative)
SynonymsC17orf63ATPIIA
Cytomap

17q11.2

20q13.2

Type of geneprotein-codingprotein-coding
Descriptionprotein FAM222Buncharacterized protein C17orf63probable phospholipid-transporting ATPase IIAATPase type IV, phospholipid-transporting (P-type),(putative)ATPase, class II, type 9Aphospholipid-transporting ATPase IIA
Modification date2020031320200313
UniProtAcc

Q8WU58

O75110

Ensembl transtripts involved in fusion geneENST00000341217, ENST00000452648, 
ENST00000577682, ENST00000581381, 
ENST00000581407, ENST00000582059, 
ENST00000582266, ENST00000583522, 
ENST00000583953, 
ENST00000311637, 
ENST00000338821, ENST00000402822, 
ENST00000477492, 
Fusion gene scores* DoF score29 X 15 X 15=652518 X 17 X 7=2142
# samples 4318
** MAII scorelog2(43/6525*10)=-3.92356933675515
possibly effective Gene in Pan-Cancer Fusion Genes (peGinPCFGs).
DoF>8 and MAII<0
log2(18/2142*10)=-3.57288966842058
possibly effective Gene in Pan-Cancer Fusion Genes (peGinPCFGs).
DoF>8 and MAII<0
Context

PubMed: FAM222B [Title/Abstract] AND ATP9A [Title/Abstract] AND fusion [Title/Abstract]

Most frequent breakpointFAM222B(27101165)-ATP9A(50254825), # 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

check buttonFusion gene breakpoints across FAM222B (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 ATP9A (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
ChiTaRS5.0N/ABG222479FAM222Bchr17

27101165

-ATP9Achr20

50254825

+


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Fusion Gene ORF analysis for FAM222B-ATP9A

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
intron-intronENST00000341217ENST00000311637FAM222Bchr17

27101165

-ATP9Achr20

50254825

+
intron-intronENST00000341217ENST00000338821FAM222Bchr17

27101165

-ATP9Achr20

50254825

+
intron-intronENST00000341217ENST00000402822FAM222Bchr17

27101165

-ATP9Achr20

50254825

+
intron-intronENST00000341217ENST00000477492FAM222Bchr17

27101165

-ATP9Achr20

50254825

+
intron-intronENST00000452648ENST00000311637FAM222Bchr17

27101165

-ATP9Achr20

50254825

+
intron-intronENST00000452648ENST00000338821FAM222Bchr17

27101165

-ATP9Achr20

50254825

+
intron-intronENST00000452648ENST00000402822FAM222Bchr17

27101165

-ATP9Achr20

50254825

+
intron-intronENST00000452648ENST00000477492FAM222Bchr17

27101165

-ATP9Achr20

50254825

+
intron-intronENST00000577682ENST00000311637FAM222Bchr17

27101165

-ATP9Achr20

50254825

+
intron-intronENST00000577682ENST00000338821FAM222Bchr17

27101165

-ATP9Achr20

50254825

+
intron-intronENST00000577682ENST00000402822FAM222Bchr17

27101165

-ATP9Achr20

50254825

+
intron-intronENST00000577682ENST00000477492FAM222Bchr17

27101165

-ATP9Achr20

50254825

+
intron-intronENST00000581381ENST00000311637FAM222Bchr17

27101165

-ATP9Achr20

50254825

+
intron-intronENST00000581381ENST00000338821FAM222Bchr17

27101165

-ATP9Achr20

50254825

+
intron-intronENST00000581381ENST00000402822FAM222Bchr17

27101165

-ATP9Achr20

50254825

+
intron-intronENST00000581381ENST00000477492FAM222Bchr17

27101165

-ATP9Achr20

50254825

+
intron-intronENST00000581407ENST00000311637FAM222Bchr17

27101165

-ATP9Achr20

50254825

+
intron-intronENST00000581407ENST00000338821FAM222Bchr17

27101165

-ATP9Achr20

50254825

+
intron-intronENST00000581407ENST00000402822FAM222Bchr17

27101165

-ATP9Achr20

50254825

+
intron-intronENST00000581407ENST00000477492FAM222Bchr17

27101165

-ATP9Achr20

50254825

+
intron-intronENST00000582059ENST00000311637FAM222Bchr17

27101165

-ATP9Achr20

50254825

+
intron-intronENST00000582059ENST00000338821FAM222Bchr17

27101165

-ATP9Achr20

50254825

+
intron-intronENST00000582059ENST00000402822FAM222Bchr17

27101165

-ATP9Achr20

50254825

+
intron-intronENST00000582059ENST00000477492FAM222Bchr17

27101165

-ATP9Achr20

50254825

+
intron-intronENST00000582266ENST00000311637FAM222Bchr17

27101165

-ATP9Achr20

50254825

+
intron-intronENST00000582266ENST00000338821FAM222Bchr17

27101165

-ATP9Achr20

50254825

+
intron-intronENST00000582266ENST00000402822FAM222Bchr17

27101165

-ATP9Achr20

50254825

+
intron-intronENST00000582266ENST00000477492FAM222Bchr17

27101165

-ATP9Achr20

50254825

+
intron-intronENST00000583522ENST00000311637FAM222Bchr17

27101165

-ATP9Achr20

50254825

+
intron-intronENST00000583522ENST00000338821FAM222Bchr17

27101165

-ATP9Achr20

50254825

+
intron-intronENST00000583522ENST00000402822FAM222Bchr17

27101165

-ATP9Achr20

50254825

+
intron-intronENST00000583522ENST00000477492FAM222Bchr17

27101165

-ATP9Achr20

50254825

+
intron-intronENST00000583953ENST00000311637FAM222Bchr17

27101165

-ATP9Achr20

50254825

+
intron-intronENST00000583953ENST00000338821FAM222Bchr17

27101165

-ATP9Achr20

50254825

+
intron-intronENST00000583953ENST00000402822FAM222Bchr17

27101165

-ATP9Achr20

50254825

+
intron-intronENST00000583953ENST00000477492FAM222Bchr17

27101165

-ATP9Achr20

50254825

+

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 FAM222B-ATP9A


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)

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 FAM222B-ATP9A


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/:27101165/:50254825)
- 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
FAM222B

Q8WU58

ATP9A

O75110

FUNCTION: Plays a role in regulating membrane trafficking of cargo proteins, namely endosome to plasma membrane recycling and endosome to trans-Golgi network retrograde transport (PubMed:27733620, PubMed:30213940). In complex with MON2 and DOP1B, regulates SNX3 retromer-mediated endosomal sorting of WLS, a transporter of Wnt morphogens in developing tissues. Participates in the formation of endosomal carriers that direct WLS trafficking back to Golgi, away from lysosomal degradation (PubMed:30213940). Appears to be implicated in intercellular communication by negatively regulating the release of exosomes (PubMed:30947313). The flippase activity towards membrane lipids and its role in membrane asymmetry remains to be proved (PubMed:30947313). {ECO:0000269|PubMed:27733620, ECO:0000269|PubMed:30213940, ECO:0000269|PubMed:30947313}.

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 FAM222B-ATP9A


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 FAM222B-ATP9A


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 FAM222B-ATP9A


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 FAM222B-ATP9A


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