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	Fusion Gene Summary
	Fusion Gene ORF analysis
	Fusion Genomic Features
	Fusion Protein Features
	Fusion Gene Sequence
	Fusion Gene PPI analysis
	Related Drugs
	Related Diseases

Fusion gene:ATP2C1-ABCC4 (FusionGDB2 ID:7880)

Fusion Gene Summary for ATP2C1-ABCC4

Fusion gene summary

Fusion gene information	Fusion gene name: ATP2C1-ABCC4
	Fusion gene ID: 7880
		Hgene	Tgene
	Gene symbol	ATP2C1	ABCC4
	Gene ID	27032	10257
	Gene name	ATPase secretory pathway Ca2+ transporting 1	ATP binding cassette subfamily C member 4
	Synonyms	ATP2C1A\|BCPM\|HHD\|PMR1\|SPCA1\|hSPCA1	MOAT-B\|MOATB\|MRP4
	Cytomap	3q22.1	13q32.1
	Type of gene	protein-coding	protein-coding
	Description	calcium-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 1	multidrug resistance-associated protein 4MRP/cMOAT-related ABC transporterbA464I2.1 (ATP-binding cassette, sub-family C (CFTR/MRP), member 4)canalicular multispecific organic anion transporter (ABC superfamily)multi-specific organic anion transporter
	Modification date	20200313	20200313
	UniProtAcc	P98194	O15439
	Ensembl transtripts involved in fusion gene	ENST00000428331, ENST00000504948, ENST00000505330, ENST00000508532, ENST00000510168, ENST00000328560, ENST00000359644, ENST00000393221, ENST00000422190, ENST00000504381, ENST00000507488, ENST00000509150, ENST00000513801, ENST00000533801,	ENST00000376887, ENST00000412704, ENST00000431522, ENST00000474158, ENST00000536256, ENST00000538287,
Fusion gene scores	* DoF score	16 X 17 X 10=2720	20 X 18 X 5=1800
	# samples	19	21
	** MAII score	log2(19/2720*10)=-3.83953532780675 possibly effective Gene in Pan-Cancer Fusion Genes (peGinPCFGs). DoF>8 and MAII<0	log2(21/1800*10)=-3.09953567355091 possibly effective Gene in Pan-Cancer Fusion Genes (peGinPCFGs). DoF>8 and MAII<0
Context	PubMed: ATP2C1 [Title/Abstract] AND ABCC4 [Title/Abstract] AND fusion [Title/Abstract]
Most frequent breakpoint	ATP2C1(130720839)-ABCC4(95948214), # 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)

Gene ontology of each fusion partner gene with evidence of Inferred from Direct Assay (IDA) from Entrez

Partner	Gene	GO ID	GO term	PubMed ID
Hgene	ATP2C1	GO:0006816	calcium ion transport	12810057
Hgene	ATP2C1	GO:0006874	cellular calcium ion homeostasis	12810057
Tgene	ABCC4	GO:0032310	prostaglandin secretion	25173977

Fusion 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.

Fusion gene breakpoints across ABCC4 (3'-gene)
* Click on the image to open the UCSC genome browser with custom track showing this image in a new window.

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.

Source	Disease	Sample	Hgene	Hchr	Hbp	Hstrand	Tgene	Tchr	Tbp	Tstrand
ChiTaRS5.0	N/A	CB050007	ATP2C1	chr3	130720839	+	ABCC4	chr13	95948214	+

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Fusion Gene ORF analysis for ATP2C1-ABCC4

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.

ORF	Henst	Tenst	Hgene	Hchr	Hbp	Hstrand	Tgene	Tchr	Tbp	Tstrand
3UTR-intron	ENST00000428331	ENST00000376887	ATP2C1	chr3	130720839	+	ABCC4	chr13	95948214	+
3UTR-intron	ENST00000428331	ENST00000412704	ATP2C1	chr3	130720839	+	ABCC4	chr13	95948214	+
3UTR-intron	ENST00000428331	ENST00000431522	ATP2C1	chr3	130720839	+	ABCC4	chr13	95948214	+
3UTR-intron	ENST00000428331	ENST00000474158	ATP2C1	chr3	130720839	+	ABCC4	chr13	95948214	+
3UTR-intron	ENST00000428331	ENST00000536256	ATP2C1	chr3	130720839	+	ABCC4	chr13	95948214	+
3UTR-intron	ENST00000428331	ENST00000538287	ATP2C1	chr3	130720839	+	ABCC4	chr13	95948214	+
3UTR-intron	ENST00000504948	ENST00000376887	ATP2C1	chr3	130720839	+	ABCC4	chr13	95948214	+
3UTR-intron	ENST00000504948	ENST00000412704	ATP2C1	chr3	130720839	+	ABCC4	chr13	95948214	+
3UTR-intron	ENST00000504948	ENST00000431522	ATP2C1	chr3	130720839	+	ABCC4	chr13	95948214	+
3UTR-intron	ENST00000504948	ENST00000474158	ATP2C1	chr3	130720839	+	ABCC4	chr13	95948214	+
3UTR-intron	ENST00000504948	ENST00000536256	ATP2C1	chr3	130720839	+	ABCC4	chr13	95948214	+
3UTR-intron	ENST00000504948	ENST00000538287	ATP2C1	chr3	130720839	+	ABCC4	chr13	95948214	+
3UTR-intron	ENST00000505330	ENST00000376887	ATP2C1	chr3	130720839	+	ABCC4	chr13	95948214	+
3UTR-intron	ENST00000505330	ENST00000412704	ATP2C1	chr3	130720839	+	ABCC4	chr13	95948214	+
3UTR-intron	ENST00000505330	ENST00000431522	ATP2C1	chr3	130720839	+	ABCC4	chr13	95948214	+
3UTR-intron	ENST00000505330	ENST00000474158	ATP2C1	chr3	130720839	+	ABCC4	chr13	95948214	+
3UTR-intron	ENST00000505330	ENST00000536256	ATP2C1	chr3	130720839	+	ABCC4	chr13	95948214	+
3UTR-intron	ENST00000505330	ENST00000538287	ATP2C1	chr3	130720839	+	ABCC4	chr13	95948214	+
3UTR-intron	ENST00000508532	ENST00000376887	ATP2C1	chr3	130720839	+	ABCC4	chr13	95948214	+
3UTR-intron	ENST00000508532	ENST00000412704	ATP2C1	chr3	130720839	+	ABCC4	chr13	95948214	+
3UTR-intron	ENST00000508532	ENST00000431522	ATP2C1	chr3	130720839	+	ABCC4	chr13	95948214	+
3UTR-intron	ENST00000508532	ENST00000474158	ATP2C1	chr3	130720839	+	ABCC4	chr13	95948214	+
3UTR-intron	ENST00000508532	ENST00000536256	ATP2C1	chr3	130720839	+	ABCC4	chr13	95948214	+
3UTR-intron	ENST00000508532	ENST00000538287	ATP2C1	chr3	130720839	+	ABCC4	chr13	95948214	+
3UTR-intron	ENST00000510168	ENST00000376887	ATP2C1	chr3	130720839	+	ABCC4	chr13	95948214	+
3UTR-intron	ENST00000510168	ENST00000412704	ATP2C1	chr3	130720839	+	ABCC4	chr13	95948214	+
3UTR-intron	ENST00000510168	ENST00000431522	ATP2C1	chr3	130720839	+	ABCC4	chr13	95948214	+
3UTR-intron	ENST00000510168	ENST00000474158	ATP2C1	chr3	130720839	+	ABCC4	chr13	95948214	+
3UTR-intron	ENST00000510168	ENST00000536256	ATP2C1	chr3	130720839	+	ABCC4	chr13	95948214	+
3UTR-intron	ENST00000510168	ENST00000538287	ATP2C1	chr3	130720839	+	ABCC4	chr13	95948214	+
intron-intron	ENST00000328560	ENST00000376887	ATP2C1	chr3	130720839	+	ABCC4	chr13	95948214	+
intron-intron	ENST00000328560	ENST00000412704	ATP2C1	chr3	130720839	+	ABCC4	chr13	95948214	+
intron-intron	ENST00000328560	ENST00000431522	ATP2C1	chr3	130720839	+	ABCC4	chr13	95948214	+
intron-intron	ENST00000328560	ENST00000474158	ATP2C1	chr3	130720839	+	ABCC4	chr13	95948214	+
intron-intron	ENST00000328560	ENST00000536256	ATP2C1	chr3	130720839	+	ABCC4	chr13	95948214	+
intron-intron	ENST00000328560	ENST00000538287	ATP2C1	chr3	130720839	+	ABCC4	chr13	95948214	+
intron-intron	ENST00000359644	ENST00000376887	ATP2C1	chr3	130720839	+	ABCC4	chr13	95948214	+
intron-intron	ENST00000359644	ENST00000412704	ATP2C1	chr3	130720839	+	ABCC4	chr13	95948214	+
intron-intron	ENST00000359644	ENST00000431522	ATP2C1	chr3	130720839	+	ABCC4	chr13	95948214	+
intron-intron	ENST00000359644	ENST00000474158	ATP2C1	chr3	130720839	+	ABCC4	chr13	95948214	+
intron-intron	ENST00000359644	ENST00000536256	ATP2C1	chr3	130720839	+	ABCC4	chr13	95948214	+
intron-intron	ENST00000359644	ENST00000538287	ATP2C1	chr3	130720839	+	ABCC4	chr13	95948214	+
intron-intron	ENST00000393221	ENST00000376887	ATP2C1	chr3	130720839	+	ABCC4	chr13	95948214	+
intron-intron	ENST00000393221	ENST00000412704	ATP2C1	chr3	130720839	+	ABCC4	chr13	95948214	+
intron-intron	ENST00000393221	ENST00000431522	ATP2C1	chr3	130720839	+	ABCC4	chr13	95948214	+
intron-intron	ENST00000393221	ENST00000474158	ATP2C1	chr3	130720839	+	ABCC4	chr13	95948214	+
intron-intron	ENST00000393221	ENST00000536256	ATP2C1	chr3	130720839	+	ABCC4	chr13	95948214	+
intron-intron	ENST00000393221	ENST00000538287	ATP2C1	chr3	130720839	+	ABCC4	chr13	95948214	+
intron-intron	ENST00000422190	ENST00000376887	ATP2C1	chr3	130720839	+	ABCC4	chr13	95948214	+
intron-intron	ENST00000422190	ENST00000412704	ATP2C1	chr3	130720839	+	ABCC4	chr13	95948214	+
intron-intron	ENST00000422190	ENST00000431522	ATP2C1	chr3	130720839	+	ABCC4	chr13	95948214	+
intron-intron	ENST00000422190	ENST00000474158	ATP2C1	chr3	130720839	+	ABCC4	chr13	95948214	+
intron-intron	ENST00000422190	ENST00000536256	ATP2C1	chr3	130720839	+	ABCC4	chr13	95948214	+
intron-intron	ENST00000422190	ENST00000538287	ATP2C1	chr3	130720839	+	ABCC4	chr13	95948214	+
intron-intron	ENST00000504381	ENST00000376887	ATP2C1	chr3	130720839	+	ABCC4	chr13	95948214	+
intron-intron	ENST00000504381	ENST00000412704	ATP2C1	chr3	130720839	+	ABCC4	chr13	95948214	+
intron-intron	ENST00000504381	ENST00000431522	ATP2C1	chr3	130720839	+	ABCC4	chr13	95948214	+
intron-intron	ENST00000504381	ENST00000474158	ATP2C1	chr3	130720839	+	ABCC4	chr13	95948214	+
intron-intron	ENST00000504381	ENST00000536256	ATP2C1	chr3	130720839	+	ABCC4	chr13	95948214	+
intron-intron	ENST00000504381	ENST00000538287	ATP2C1	chr3	130720839	+	ABCC4	chr13	95948214	+
intron-intron	ENST00000507488	ENST00000376887	ATP2C1	chr3	130720839	+	ABCC4	chr13	95948214	+
intron-intron	ENST00000507488	ENST00000412704	ATP2C1	chr3	130720839	+	ABCC4	chr13	95948214	+
intron-intron	ENST00000507488	ENST00000431522	ATP2C1	chr3	130720839	+	ABCC4	chr13	95948214	+
intron-intron	ENST00000507488	ENST00000474158	ATP2C1	chr3	130720839	+	ABCC4	chr13	95948214	+
intron-intron	ENST00000507488	ENST00000536256	ATP2C1	chr3	130720839	+	ABCC4	chr13	95948214	+
intron-intron	ENST00000507488	ENST00000538287	ATP2C1	chr3	130720839	+	ABCC4	chr13	95948214	+
intron-intron	ENST00000509150	ENST00000376887	ATP2C1	chr3	130720839	+	ABCC4	chr13	95948214	+
intron-intron	ENST00000509150	ENST00000412704	ATP2C1	chr3	130720839	+	ABCC4	chr13	95948214	+
intron-intron	ENST00000509150	ENST00000431522	ATP2C1	chr3	130720839	+	ABCC4	chr13	95948214	+
intron-intron	ENST00000509150	ENST00000474158	ATP2C1	chr3	130720839	+	ABCC4	chr13	95948214	+
intron-intron	ENST00000509150	ENST00000536256	ATP2C1	chr3	130720839	+	ABCC4	chr13	95948214	+
intron-intron	ENST00000509150	ENST00000538287	ATP2C1	chr3	130720839	+	ABCC4	chr13	95948214	+
intron-intron	ENST00000513801	ENST00000376887	ATP2C1	chr3	130720839	+	ABCC4	chr13	95948214	+
intron-intron	ENST00000513801	ENST00000412704	ATP2C1	chr3	130720839	+	ABCC4	chr13	95948214	+
intron-intron	ENST00000513801	ENST00000431522	ATP2C1	chr3	130720839	+	ABCC4	chr13	95948214	+
intron-intron	ENST00000513801	ENST00000474158	ATP2C1	chr3	130720839	+	ABCC4	chr13	95948214	+
intron-intron	ENST00000513801	ENST00000536256	ATP2C1	chr3	130720839	+	ABCC4	chr13	95948214	+
intron-intron	ENST00000513801	ENST00000538287	ATP2C1	chr3	130720839	+	ABCC4	chr13	95948214	+
intron-intron	ENST00000533801	ENST00000376887	ATP2C1	chr3	130720839	+	ABCC4	chr13	95948214	+
intron-intron	ENST00000533801	ENST00000412704	ATP2C1	chr3	130720839	+	ABCC4	chr13	95948214	+
intron-intron	ENST00000533801	ENST00000431522	ATP2C1	chr3	130720839	+	ABCC4	chr13	95948214	+
intron-intron	ENST00000533801	ENST00000474158	ATP2C1	chr3	130720839	+	ABCC4	chr13	95948214	+
intron-intron	ENST00000533801	ENST00000536256	ATP2C1	chr3	130720839	+	ABCC4	chr13	95948214	+
intron-intron	ENST00000533801	ENST00000538287	ATP2C1	chr3	130720839	+	ABCC4	chr13	95948214	+

ORFfinder result based on the fusion transcript sequence of in-frame fusion genes.

Henst

Tenst

Hgene

Hchr

Hbp

Hstrand

Tgene

Tchr

Tbp

Tstrand

Seq length
(transcript)

BP loci
(transcript)

Predicted start
(transcript)

Predicted stop
(transcript)

Seq length
(amino acids)

DeepORF 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.

Henst

Tenst

Hgene

Hchr

Hbp

Hstrand

Tgene

Tchr

Tbp

Tstrand

No-coding score

Coding score

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Fusion Genomic Features for ATP2C1-ABCC4

FusionAI 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.

Hgene

Hchr

Hbp

Hstrand

Tgene

Tchr

Tbp

Tstrand

1-p

p (fusion gene breakpoint)

Distribution 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.

Distribution 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-ABCC4

Four levels of functional features of fusion genes
Go to FGviewer search page for the most frequent breakpoint (https://ccsmweb.uth.edu/FGviewer/:130720839/:95948214)
- 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.

Main function of each fusion partner protein. (from UniProt)

Hgene	Tgene
ATP2C1 P98194	ABCC4 O15439
FUNCTION: This magnesium-dependent enzyme catalyzes the hydrolysis of ATP coupled with the transport of the calcium.	FUNCTION: ATP-dependent transporter of the ATP-binding cassette (ABC) family that actively extrudes physiological compounds and xenobiotics from cells. Transports a range of endogenous molecules that have a key role in cellular communication and signaling, including cyclic nucleotides such as cyclic AMP (cAMP) and cyclic GMP (cGMP), bile acids, steroid conjugates, urate, and prostaglandins (PubMed:11856762, PubMed:12883481, PubMed:12523936, PubMed:12835412, PubMed:15364914, PubMed:15454390, PubMed:16282361, PubMed:17959747, PubMed:18300232, PubMed:26721430). Mediates the ATP-dependent efflux of glutathione conjugates such as leukotriene C4 (LTC4) and leukotriene B4 (LTB4) too. The presence of GSH is necessary for the ATP-dependent transport of LTB4, whereas GSH is not required for the transport of LTC4 (PubMed:17959747). Mediates the cotransport of bile acids with reduced glutathione (GSH) (PubMed:12883481, PubMed:12523936, PubMed:16282361). Transports a wide range of drugs and their metabolites, including anticancer, antiviral and antibiotics molecules (PubMed:11856762, PubMed:12105214, PubMed:15454390, PubMed:18300232, PubMed:17344354). Confers resistance to anticancer agents such as methotrexate (PubMed:11106685). {ECO:0000269\|PubMed:11106685, ECO:0000269\|PubMed:11856762, ECO:0000269\|PubMed:12105214, ECO:0000269\|PubMed:12523936, ECO:0000269\|PubMed:12835412, ECO:0000269\|PubMed:12883481, ECO:0000269\|PubMed:15364914, ECO:0000269\|PubMed:15454390, ECO:0000269\|PubMed:16282361, ECO:0000269\|PubMed:17344354, ECO:0000269\|PubMed:17959747, ECO:0000269\|PubMed:18300232, ECO:0000269\|PubMed:26721430}.

Retention 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.

Partner

Gene

Hbp

Tbp

ENST

Strand

BPexon

TotalExon

Protein feature loci

*BPloci

TotalLen

Protein feature

Protein feature note

- In-frame and not-retained protein feature among the 13 regional features.

Partner

Gene

Hbp

Tbp

ENST

Strand

BPexon

TotalExon

Protein feature loci

*BPloci

TotalLen

Protein feature

Protein feature note

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Fusion Gene Sequence for ATP2C1-ABCC4

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-ABCC4

Go to ChiPPI (Chimeric Protein-Protein interactions) to see the chimeric PPI interaction in
ChiPPI page.

Protein-protein interactors with each fusion partner protein in wild-type (BIOGRID-3.4.160)

Hgene

Hgene's interactors

Tgene

Tgene's interactors

- Retained PPIs in in-frame fusion.

Partner

Gene

Hbp

Tbp

ENST

Strand

BPexon

TotalExon

Protein feature loci

*BPloci

TotalLen

Still interaction with

- Lost PPIs in in-frame fusion.

Partner

Gene

Hbp

Tbp

ENST

Strand

BPexon

TotalExon

Protein feature loci

*BPloci

TotalLen

Interaction lost with

- Retained PPIs, but lost function due to frame-shift fusion.

Partner

Gene

Hbp

Tbp

ENST

Strand

BPexon

TotalExon

Protein feature loci

*BPloci

TotalLen

Interaction lost with

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Related Drugs for ATP2C1-ABCC4

Drugs targeting genes involved in this fusion gene.
(DrugBank Version 5.1.8 2021-05-08)

Partner

Gene

UniProtAcc

DrugBank ID

Drug name

Drug activity

Drug type

Drug status

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Related Diseases for ATP2C1-ABCC4

Diseases associated with fusion partners.
(DisGeNet 4.0)

Partner

Gene

Disease ID

Disease name

# pubmeds

Source