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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:ATP4B-CNDP2 (FusionGDB2 ID:HG496TG55748)

Fusion Gene Summary for ATP4B-CNDP2

check button Fusion gene summary
Fusion gene informationFusion gene name: ATP4B-CNDP2
Fusion gene ID: hg496tg55748
HgeneTgene
Gene symbol

ATP4B

CNDP2

Gene ID

496

55748

Gene nameATPase H+/K+ transporting subunit betacarnosine dipeptidase 2
SynonymsATP6BCN2|CPGL|HEL-S-13|HsT2298|PEPA
Cytomap('ATP4B')('CNDP2')

13q34

18q22.3

Type of geneprotein-codingprotein-coding
Descriptionpotassium-transporting ATPase subunit betaATPase H+/K+ transporting beta subunitATPase, H+/K+ exchanging, beta polypeptideATPase, H+/K+ transporting, beta polypeptidegastric H(+)/K(+) ATPase subunit betagastric H+/K+ ATPase beta subunitgastric hydrocytosolic non-specific dipeptidaseCNDP dipeptidase 2 (metallopeptidase M20 family)carnosinase-2carnosine dipeptidase IIcytosolic nonspecific dipeptidaseepididymis secretory protein Li 13glutamate carboxypeptidase-like protein 1peptidase A
Modification date2020031320200313
UniProtAcc

P51164

.
Ensembl transtripts involved in fusion geneENST00000335288, 
Fusion gene scores* DoF score1 X 1 X 1=17 X 7 X 4=196
# samples 17
** MAII scorelog2(1/1*10)=3.32192809488736log2(7/196*10)=-1.48542682717024
possibly effective Gene in Pan-Cancer Fusion Genes (peGinPCFGs).
DoF>8 and MAII<0
Context

PubMed: ATP4B [Title/Abstract] AND CNDP2 [Title/Abstract] AND fusion [Title/Abstract]

Most frequent breakpointATP4B(114307636)-CNDP2(72186184), # samples:1
Anticipated loss of major functional domain due to fusion event.ATP4B-CNDP2 seems lost the major protein functional domain in Hgene partner, which is a CGC by not retaining the major functional domain in the partially deleted in-frame ORF.
ATP4B-CNDP2 seems lost the major protein functional domain in Hgene partner, which is a essential gene by not retaining the major functional domain in the partially deleted in-frame 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

check buttonFusion gene breakpoints across ATP4B (5'-gene)
* Click on the image to open the UCSC genome browser with custom track showing this image in a new window.
all structure
check buttonFusion gene breakpoints across CNDP2 (3'-gene)
* Click on the image to open the UCSC genome browser with custom track showing this image in a new window.
all structure

check button Fusion gene information
* 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
ChimerDB4Non-CancerTCGA-CG-5721-11AATP4Bchr13

114307636

-CNDP2chr18

72186184

+


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Fusion Gene ORF analysis for ATP4B-CNDP2

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-intronENST00000335288ENST00000324301ATP4Bchr13

114307636

-CNDP2chr18

72186184

+
5CDS-intronENST00000335288ENST00000580229ATP4Bchr13

114307636

-CNDP2chr18

72186184

+
In-frameENST00000335288ENST00000324262ATP4Bchr13

114307636

-CNDP2chr18

72186184

+
In-frameENST00000335288ENST00000579847ATP4Bchr13

114307636

-CNDP2chr18

72186184

+

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)
ENST00000335288ATP4Bchr13114307636-ENST00000324262CNDP2chr1872186184+167539742614190
ENST00000335288ATP4Bchr13114307636-ENST00000579847CNDP2chr1872186184+167839742614190

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
ENST00000335288ENST00000324262ATP4Bchr13114307636-CNDP2chr1872186184+0.0046318660.9953681
ENST00000335288ENST00000579847ATP4Bchr13114307636-CNDP2chr1872186184+0.0047201350.9952799

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Fusion Genomic Features for ATP4B-CNDP2


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)
ATP4Bchr13114307635-CNDP2chr1872186183+0.909606640.09039337
ATP4Bchr13114307635-CNDP2chr1872186183+0.909606640.09039337

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.
genomic feature

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 ATP4B-CNDP2


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/chr13:114307636/chr18:72186184)
- 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
ATP4B

P51164

.
FUNCTION: Required for stabilization and maturation of the catalytic proton pump alpha subunit and may also involved in cell adhesion and establishing epithelial cell polarity. {ECO:0000269|PubMed:19694409}.FUNCTION: Transcriptional activator which is required for calcium-dependent dendritic growth and branching in cortical neurons. Recruits CREB-binding protein (CREBBP) to nuclear bodies. Component of the CREST-BRG1 complex, a multiprotein complex that regulates promoter activation by orchestrating a calcium-dependent release of a repressor complex and a recruitment of an activator complex. In resting neurons, transcription of the c-FOS promoter is inhibited by BRG1-dependent recruitment of a phospho-RB1-HDAC1 repressor complex. Upon calcium influx, RB1 is dephosphorylated by calcineurin, which leads to release of the repressor complex. At the same time, there is increased recruitment of CREBBP to the promoter by a CREST-dependent mechanism, which leads to transcriptional activation. The CREST-BRG1 complex also binds to the NR2B promoter, and activity-dependent induction of NR2B expression involves a release of HDAC1 and recruitment of CREBBP (By similarity). {ECO:0000250}.

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
HgeneATP4Bchr13:114307636chr18:72186184ENST00000335288-371_36118292.0Topological domainCytoplasmic
HgeneATP4Bchr13:114307636chr18:72186184ENST00000335288-3737_57118292.0TransmembraneHelical%3B Signal-anchor for type II membrane protein

- In-frame and not-retained protein feature among the 13 regional features.
PartnerGeneHbpTbpENSTStrandBPexonTotalExonProtein feature loci*BPlociTotalLenProtein featureProtein feature note
HgeneATP4Bchr13:114307636chr18:72186184ENST00000335288-37194_291118292.0RegionNote=immunoglobulin-like
HgeneATP4Bchr13:114307636chr18:72186184ENST00000335288-3758_291118292.0Topological domainExtracellular
TgeneCNDP2chr13:114307636chr18:72186184ENST00000324262912166_167403476.0RegionSubstrate binding
TgeneCNDP2chr13:114307636chr18:72186184ENST0000032430169166_167319392.0RegionSubstrate binding
TgeneCNDP2chr13:114307636chr18:72186184ENST00000579847912166_167403476.0RegionSubstrate binding


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Fusion Gene Sequence for ATP4B-CNDP2


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.
>7910_7910_1_ATP4B-CNDP2_ATP4B_chr13_114307636_ENST00000335288_CNDP2_chr18_72186184_ENST00000324262_length(transcript)=1675nt_BP=397nt
GAGGGTGCAGGGAGCAGACGGGAGGATCTCAGGCCAGGGACGATGGCGGCTCTGCAGGAGAAGAAGACGTGTGGCCAGCGCATGGAGGAG
TTCCAGCGTTACTGCTGGAACCCGGACACGGGGCAGATGCTGGGCCGCACCCTGTCCAGGTGGGTGTGGATCAGCCTGTACTACGTGGCC
TTCTACGTGGTGATGACTGGGCTCTTCGCCCTGTGCCTCTATGTGCTGATGCAGACAGTGGACCCGTACACACCGGACTACCAAGACCAG
CTACGGTCACCAGGGGTAACCTTAAGGCCGGATGTTTACGGGGAGAAAGGCCTGGAAATTGTCTACAACGTCTCTGATAACAGAACCTGG
GCAGACCTCACACAGACTCTCCACGCCTTCCTAGCAGTTTTTGGTGTTGAGCCAGACTTGACCAGGGAAGGCGGCAGTATTCCCGTGACC
TTGACCTTTCAGGAGGCCACGGGCAAGAACGTCATGCTGCTGCCTGTGGGGTCAGCGGATGACGGAGCCCACTCCCAGAATGAAAAGCTC
AACAGGTATAACTACATAGAGGGAACCAAGATGCTGGCCGCGTACCTGTATGAGGTCTCCCAGCTGAAGGACTAGGCCAAGCCCTCTGTG
TGCCATCTCCAATGAGAAGGAATCCTGCCCTCACCTCACCCTTTTCCAACTTGCCCAGGGAAGTGGAGGTTCCCTCTTTCCTTTCCCTCT
TGTCAGGTCATCCATGACTTTAGAGAACAGACACAAGTGTATCCAGCTGTCCACGGGTGGAGCTACCCGTTGGGCTTATGAGTGACCTGG
AGTGACAGCTGAGTCACCCTGGGTAAGTTCTCAGAGTGGTCAGGATGGCTTGACCTGCAGAAGATACCCAAGGTCCAAAAGCACAAGGTC
TGCGGAAAGTTCTGGTTGTCGGCCGGGCACCACGGCTCACACCTATAATCGAGCACTTTGGGAGGCCAAGACAGGAGGATCACTTGAGGC
CAGGAGTCTGAGACAAGCCTAGGCAACAAAACAAGACTCTGTCTCTACAAAAAGTTTAAGAAATGAGCCAGACATGGTGGTGTATGCCTG
TAGTCCCAGCCACTCAGAAGGCTGAGGCAGGAGGATCGCTTGAGACCAAGAGTTTGAGCCTGCGGTGAGCTGTGAATGCACCACGGCACT
CAAGCCTGGGCAATGTAGCAAGATCCTGTCTCTACAAGAAATTTTTTAAAAATGAGCCAAGTGTGGTGGTGCATGCCTGTAGTTCCAGCT
ACTCAGGACACTGACGTAGGAGGGTTGCTTGAGACTGAGAGTTGGAGGCTGCGATGAGCCATGAATGCCCCACTGCACTCCAGCCTGGGC
GACAGAACGAGACCCCATCTCAAAAAAAATAAGTTCTGGTTGTCATTGAATTGGGATAAACAGAGAGCTTGATGCTTTCTGCCTTCTGTC
TCAGGTGATGCATTGCACATTTGGGATATTTGGAAAGGAAATGAGGAAAGAAATTAGGGCCTCCTCTGATCTCTCGCTATCTGCGGGTCC
TGTCCTTTTCTCAAGACCTTCACCATTACTGGCATTTTCCTGTCTTCTCTTTAGTATGATCCCTCAAAACCTCACTAACTGGAAGGATGA

>7910_7910_1_ATP4B-CNDP2_ATP4B_chr13_114307636_ENST00000335288_CNDP2_chr18_72186184_ENST00000324262_length(amino acids)=190AA_BP=118
MAALQEKKTCGQRMEEFQRYCWNPDTGQMLGRTLSRWVWISLYYVAFYVVMTGLFALCLYVLMQTVDPYTPDYQDQLRSPGVTLRPDVYG
EKGLEIVYNVSDNRTWADLTQTLHAFLAVFGVEPDLTREGGSIPVTLTFQEATGKNVMLLPVGSADDGAHSQNEKLNRYNYIEGTKMLAA

--------------------------------------------------------------
>7910_7910_2_ATP4B-CNDP2_ATP4B_chr13_114307636_ENST00000335288_CNDP2_chr18_72186184_ENST00000579847_length(transcript)=1678nt_BP=397nt
GAGGGTGCAGGGAGCAGACGGGAGGATCTCAGGCCAGGGACGATGGCGGCTCTGCAGGAGAAGAAGACGTGTGGCCAGCGCATGGAGGAG
TTCCAGCGTTACTGCTGGAACCCGGACACGGGGCAGATGCTGGGCCGCACCCTGTCCAGGTGGGTGTGGATCAGCCTGTACTACGTGGCC
TTCTACGTGGTGATGACTGGGCTCTTCGCCCTGTGCCTCTATGTGCTGATGCAGACAGTGGACCCGTACACACCGGACTACCAAGACCAG
CTACGGTCACCAGGGGTAACCTTAAGGCCGGATGTTTACGGGGAGAAAGGCCTGGAAATTGTCTACAACGTCTCTGATAACAGAACCTGG
GCAGACCTCACACAGACTCTCCACGCCTTCCTAGCAGTTTTTGGTGTTGAGCCAGACTTGACCAGGGAAGGCGGCAGTATTCCCGTGACC
TTGACCTTTCAGGAGGCCACGGGCAAGAACGTCATGCTGCTGCCTGTGGGGTCAGCGGATGACGGAGCCCACTCCCAGAATGAAAAGCTC
AACAGGTATAACTACATAGAGGGAACCAAGATGCTGGCCGCGTACCTGTATGAGGTCTCCCAGCTGAAGGACTAGGCCAAGCCCTCTGTG
TGCCATCTCCAATGAGAAGGAATCCTGCCCTCACCTCACCCTTTTCCAACTTGCCCAGGGAAGTGGAGGTTCCCTCTTTCCTTTCCCTCT
TGTCAGGTCATCCATGACTTTAGAGAACAGACACAAGTGTATCCAGCTGTCCACGGGTGGAGCTACCCGTTGGGCTTATGAGTGACCTGG
AGTGACAGCTGAGTCACCCTGGGTAAGTTCTCAGAGTGGTCAGGATGGCTTGACCTGCAGAAGATACCCAAGGTCCAAAAGCACAAGGTC
TGCGGAAAGTTCTGGTTGTCGGCCGGGCACCACGGCTCACACCTATAATCGAGCACTTTGGGAGGCCAAGACAGGAGGATCACTTGAGGC
CAGGAGTCTGAGACAAGCCTAGGCAACAAAACAAGACTCTGTCTCTACAAAAAGTTTAAGAAATGAGCCAGACATGGTGGTGTATGCCTG
TAGTCCCAGCCACTCAGAAGGCTGAGGCAGGAGGATCGCTTGAGACCAAGAGTTTGAGCCTGCGGTGAGCTGTGAATGCACCACGGCACT
CAAGCCTGGGCAATGTAGCAAGATCCTGTCTCTACAAGAAATTTTTTAAAAATGAGCCAAGTGTGGTGGTGCATGCCTGTAGTTCCAGCT
ACTCAGGACACTGACGTAGGAGGGTTGCTTGAGACTGAGAGTTGGAGGCTGCGATGAGCCATGAATGCCCCACTGCACTCCAGCCTGGGC
GACAGAACGAGACCCCATCTCAAAAAAAATAAGTTCTGGTTGTCATTGAATTGGGATAAACAGAGAGCTTGATGCTTTCTGCCTTCTGTC
TCAGGTGATGCATTGCACATTTGGGATATTTGGAAAGGAAATGAGGAAAGAAATTAGGGCCTCCTCTGATCTCTCGCTATCTGCGGGTCC
TGTCCTTTTCTCAAGACCTTCACCATTACTGGCATTTTCCTGTCTTCTCTTTAGTATGATCCCTCAAAACCTCACTAACTGGAAGGATGA

>7910_7910_2_ATP4B-CNDP2_ATP4B_chr13_114307636_ENST00000335288_CNDP2_chr18_72186184_ENST00000579847_length(amino acids)=190AA_BP=118
MAALQEKKTCGQRMEEFQRYCWNPDTGQMLGRTLSRWVWISLYYVAFYVVMTGLFALCLYVLMQTVDPYTPDYQDQLRSPGVTLRPDVYG
EKGLEIVYNVSDNRTWADLTQTLHAFLAVFGVEPDLTREGGSIPVTLTFQEATGKNVMLLPVGSADDGAHSQNEKLNRYNYIEGTKMLAA

--------------------------------------------------------------

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Fusion Gene PPI Analysis for ATP4B-CNDP2


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 ATP4B-CNDP2


check button Drugs targeting genes involved in this fusion gene.
(DrugBank Version 5.1.8 2021-05-08)
PartnerGeneUniProtAccDrugBank IDDrug nameDrug activityDrug typeDrug status
HgeneATP4BP51164DB05351DexlansoprazoleInhibitorSmall moleculeApproved|Investigational

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Related Diseases for ATP4B-CNDP2


check button Diseases associated with fusion partners.
(DisGeNet 4.0)
PartnerGeneDisease IDDisease name# pubmedsSource
TgeneC0011881Diabetic Nephropathy1CTD_human
TgeneC0015695Fatty Liver1CTD_human
TgeneC0017667Nodular glomerulosclerosis1CTD_human
TgeneC2711227Steatohepatitis1CTD_human