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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:ATP2C1-HNRNPA2B1 (FusionGDB2 ID:7889)

Fusion Gene Summary for ATP2C1-HNRNPA2B1

check button Fusion gene summary
Fusion gene informationFusion gene name: ATP2C1-HNRNPA2B1
Fusion gene ID: 7889
HgeneTgene
Gene symbol

ATP2C1

HNRNPA2B1

Gene ID

27032

3181

Gene nameATPase secretory pathway Ca2+ transporting 1heterogeneous nuclear ribonucleoprotein A2/B1
SynonymsATP2C1A|BCPM|HHD|PMR1|SPCA1|hSPCA1HNRNPA2|HNRNPB1|HNRPA2|HNRPA2B1|HNRPB1|IBMPFD2|RNPA2|SNRPB1
Cytomap

3q22.1

7p15.2

Type of geneprotein-codingprotein-coding
Descriptioncalcium-transporting ATPase type 2C member 1ATP-dependent Ca(2+) pump PMR1ATPase 2C1ATPase, Ca(2+)-sequesteringATPase, Ca++ transporting, type 2C, member 1HUSSY-28secretory pathway Ca2+/Mn2+ ATPase 1heterogeneous nuclear ribonucleoproteins A2/B1HNRNPA2B1/MYC fusionepididymis secretory sperm binding proteinhnRNP A2 / hnRNP B1nuclear ribonucleoprotein particle A2 protein
Modification date2020031320200314
UniProtAcc

P98194

P22626

Ensembl transtripts involved in fusion geneENST00000509150, ENST00000393221, 
ENST00000533801, ENST00000504381, 
ENST00000505330, ENST00000507488, 
ENST00000328560, ENST00000359644, 
ENST00000422190, ENST00000428331, 
ENST00000504948, ENST00000508532, 
ENST00000510168, ENST00000513801, 
ENST00000354667, ENST00000356674, 
ENST00000476233, 
Fusion gene scores* DoF score16 X 17 X 10=272024 X 27 X 5=3240
# samples 1930
** MAII scorelog2(19/2720*10)=-3.83953532780675
possibly effective Gene in Pan-Cancer Fusion Genes (peGinPCFGs).
DoF>8 and MAII<0		log2(30/3240*10)=-3.43295940727611
possibly effective Gene in Pan-Cancer Fusion Genes (peGinPCFGs).
DoF>8 and MAII<0
Context

PubMed: ATP2C1 [Title/Abstract] AND HNRNPA2B1 [Title/Abstract] AND fusion [Title/Abstract]

Most frequent breakpointATP2C1(130569772)-HNRNPA2B1(26237486), # 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
HgeneATP2C1

GO:0006816

calcium ion transport

12810057

HgeneATP2C1

GO:0006874

cellular calcium ion homeostasis

12810057

TgeneHNRNPA2B1

GO:0006397

mRNA processing

2557628

TgeneHNRNPA2B1

GO:0006406

mRNA export from nucleus

10567417

TgeneHNRNPA2B1

GO:0031053

primary miRNA processing

26321680

TgeneHNRNPA2B1

GO:0050658

RNA transport

17004321

TgeneHNRNPA2B1

GO:1990428

miRNA transport

24356509


check buttonFusion gene breakpoints across ATP2C1 (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 HNRNPA2B1 (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
ChimerDB4BRCATCGA-C8-A1HJ-01AATP2C1chr3

130569772

+HNRNPA2B1chr7

26237486

-


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Fusion Gene ORF analysis for ATP2C1-HNRNPA2B1

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
3UTR-intronENST00000509150ENST00000354667ATP2C1chr3

130569772

+HNRNPA2B1chr7

26237486

-
3UTR-intronENST00000509150ENST00000356674ATP2C1chr3

130569772

+HNRNPA2B1chr7

26237486

-
3UTR-intronENST00000509150ENST00000476233ATP2C1chr3

130569772

+HNRNPA2B1chr7

26237486

-
5CDS-intronENST00000393221ENST00000354667ATP2C1chr3

130569772

+HNRNPA2B1chr7

26237486

-
5CDS-intronENST00000393221ENST00000356674ATP2C1chr3

130569772

+HNRNPA2B1chr7

26237486

-
5CDS-intronENST00000393221ENST00000476233ATP2C1chr3

130569772

+HNRNPA2B1chr7

26237486

-
5CDS-intronENST00000533801ENST00000354667ATP2C1chr3

130569772

+HNRNPA2B1chr7

26237486

-
5CDS-intronENST00000533801ENST00000356674ATP2C1chr3

130569772

+HNRNPA2B1chr7

26237486

-
5CDS-intronENST00000533801ENST00000476233ATP2C1chr3

130569772

+HNRNPA2B1chr7

26237486

-
5UTR-intronENST00000504381ENST00000354667ATP2C1chr3

130569772

+HNRNPA2B1chr7

26237486

-
5UTR-intronENST00000504381ENST00000356674ATP2C1chr3

130569772

+HNRNPA2B1chr7

26237486

-
5UTR-intronENST00000504381ENST00000476233ATP2C1chr3

130569772

+HNRNPA2B1chr7

26237486

-
5UTR-intronENST00000505330ENST00000354667ATP2C1chr3

130569772

+HNRNPA2B1chr7

26237486

-
5UTR-intronENST00000505330ENST00000356674ATP2C1chr3

130569772

+HNRNPA2B1chr7

26237486

-
5UTR-intronENST00000505330ENST00000476233ATP2C1chr3

130569772

+HNRNPA2B1chr7

26237486

-
5UTR-intronENST00000507488ENST00000354667ATP2C1chr3

130569772

+HNRNPA2B1chr7

26237486

-
5UTR-intronENST00000507488ENST00000356674ATP2C1chr3

130569772

+HNRNPA2B1chr7

26237486

-
5UTR-intronENST00000507488ENST00000476233ATP2C1chr3

130569772

+HNRNPA2B1chr7

26237486

-
intron-intronENST00000328560ENST00000354667ATP2C1chr3

130569772

+HNRNPA2B1chr7

26237486

-
intron-intronENST00000328560ENST00000356674ATP2C1chr3

130569772

+HNRNPA2B1chr7

26237486

-
intron-intronENST00000328560ENST00000476233ATP2C1chr3

130569772

+HNRNPA2B1chr7

26237486

-
intron-intronENST00000359644ENST00000354667ATP2C1chr3

130569772

+HNRNPA2B1chr7

26237486

-
intron-intronENST00000359644ENST00000356674ATP2C1chr3

130569772

+HNRNPA2B1chr7

26237486

-
intron-intronENST00000359644ENST00000476233ATP2C1chr3

130569772

+HNRNPA2B1chr7

26237486

-
intron-intronENST00000422190ENST00000354667ATP2C1chr3

130569772

+HNRNPA2B1chr7

26237486

-
intron-intronENST00000422190ENST00000356674ATP2C1chr3

130569772

+HNRNPA2B1chr7

26237486

-
intron-intronENST00000422190ENST00000476233ATP2C1chr3

130569772

+HNRNPA2B1chr7

26237486

-
intron-intronENST00000428331ENST00000354667ATP2C1chr3

130569772

+HNRNPA2B1chr7

26237486

-
intron-intronENST00000428331ENST00000356674ATP2C1chr3

130569772

+HNRNPA2B1chr7

26237486

-
intron-intronENST00000428331ENST00000476233ATP2C1chr3

130569772

+HNRNPA2B1chr7

26237486

-
intron-intronENST00000504948ENST00000354667ATP2C1chr3

130569772

+HNRNPA2B1chr7

26237486

-
intron-intronENST00000504948ENST00000356674ATP2C1chr3

130569772

+HNRNPA2B1chr7

26237486

-
intron-intronENST00000504948ENST00000476233ATP2C1chr3

130569772

+HNRNPA2B1chr7

26237486

-
intron-intronENST00000508532ENST00000354667ATP2C1chr3

130569772

+HNRNPA2B1chr7

26237486

-
intron-intronENST00000508532ENST00000356674ATP2C1chr3

130569772

+HNRNPA2B1chr7

26237486

-
intron-intronENST00000508532ENST00000476233ATP2C1chr3

130569772

+HNRNPA2B1chr7

26237486

-
intron-intronENST00000510168ENST00000354667ATP2C1chr3

130569772

+HNRNPA2B1chr7

26237486

-
intron-intronENST00000510168ENST00000356674ATP2C1chr3

130569772

+HNRNPA2B1chr7

26237486

-
intron-intronENST00000510168ENST00000476233ATP2C1chr3

130569772

+HNRNPA2B1chr7

26237486

-
intron-intronENST00000513801ENST00000354667ATP2C1chr3

130569772

+HNRNPA2B1chr7

26237486

-
intron-intronENST00000513801ENST00000356674ATP2C1chr3

130569772

+HNRNPA2B1chr7

26237486

-
intron-intronENST00000513801ENST00000476233ATP2C1chr3

130569772

+HNRNPA2B1chr7

26237486

-

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 ATP2C1-HNRNPA2B1


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 ATP2C1-HNRNPA2B1


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/:130569772/:26237486)
- 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
ATP2C1

P98194

HNRNPA2B1

P22626

FUNCTION: This magnesium-dependent enzyme catalyzes the hydrolysis of ATP coupled with the transport of the calcium.FUNCTION: Heterogeneous nuclear ribonucleoprotein (hnRNP) that associates with nascent pre-mRNAs, packaging them into hnRNP particles. The hnRNP particle arrangement on nascent hnRNA is non-random and sequence-dependent and serves to condense and stabilize the transcripts and minimize tangling and knotting. Packaging plays a role in various processes such as transcription, pre-mRNA processing, RNA nuclear export, subcellular location, mRNA translation and stability of mature mRNAs (PubMed:19099192). Forms hnRNP particles with at least 20 other different hnRNP and heterogeneous nuclear RNA in the nucleus. Involved in transport of specific mRNAs to the cytoplasm in oligodendrocytes and neurons: acts by specifically recognizing and binding the A2RE (21 nucleotide hnRNP A2 response element) or the A2RE11 (derivative 11 nucleotide oligonucleotide) sequence motifs present on some mRNAs, and promotes their transport to the cytoplasm (PubMed:10567417). Specifically binds single-stranded telomeric DNA sequences, protecting telomeric DNA repeat against endonuclease digestion (By similarity). Also binds other RNA molecules, such as primary miRNA (pri-miRNAs): acts as a nuclear 'reader' of the N6-methyladenosine (m6A) mark by specifically recognizing and binding a subset of nuclear m6A-containing pri-miRNAs. Binding to m6A-containing pri-miRNAs promotes pri-miRNA processing by enhancing binding of DGCR8 to pri-miRNA transcripts (PubMed:26321680). Involved in miRNA sorting into exosomes following sumoylation, possibly by binding (m6A)-containing pre-miRNAs (PubMed:24356509). Acts as a regulator of efficiency of mRNA splicing, possibly by binding to m6A-containing pre-mRNAs (PubMed:26321680). Plays also a role in the activation of the innate immune response (PubMed:31320558). Mechanistically, senses the presence of viral DNA in the nucleus, homodimerizes and is demethylated by JMJD6 (PubMed:31320558). In turn, translocates to the cytoplasm where it activates the TBK1-IRF3 pathway, leading to interferon alpha/beta production (PubMed:31320558). {ECO:0000250|UniProtKB:A7VJC2, ECO:0000269|PubMed:10567417, ECO:0000269|PubMed:24356509, ECO:0000269|PubMed:26321680, ECO:0000303|PubMed:19099192}.; FUNCTION: (Microbial infection) Involved in the transport of HIV-1 genomic RNA out of the nucleus, to the microtubule organizing center (MTOC), and then from the MTOC to the cytoplasm: acts by specifically recognizing and binding the A2RE (21 nucleotide hnRNP A2 response element) sequence motifs present on HIV-1 genomic RNA, and promotes its transport. {ECO:0000269|PubMed:15294897, ECO:0000269|PubMed:17004321}.

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 ATP2C1-HNRNPA2B1


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 ATP2C1-HNRNPA2B1


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 ATP2C1-HNRNPA2B1


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 ATP2C1-HNRNPA2B1


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