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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:ERAP1-CAST (FusionGDB2 ID:27129)

Fusion Gene Summary for ERAP1-CAST

Fusion gene summary

Fusion gene information	Fusion gene name: ERAP1-CAST
	Fusion gene ID: 27129
		Hgene	Tgene
	Gene symbol	ERAP1	CAST
	Gene ID	51752	26059
	Gene name	endoplasmic reticulum aminopeptidase 1	ELKS/RAB6-interacting/CAST family member 2
	Synonyms	A-LAP\|ALAP\|APPILS\|ARTS-1\|ARTS1\|ERAAP\|ERAAP1\|PILS-AP\|PILSAP	CAST\|CAST1\|ELKSL\|SPBC110\|Spc110
	Cytomap	5q15	3p14.3
	Type of gene	protein-coding	protein-coding
	Description	endoplasmic reticulum aminopeptidase 1CTD-2260A17.2adipocyte-derived leucine aminopeptidaseaminopeptidase PILSaminopeptidase regulator of TNFR1 sheddingendoplasmic reticulum aminopeptidase 1 delta-Exon-11 isoformendoplasmic reticulum aminopeptidase	ERC protein 2CAZ-associated structural proteincytomatrix protein p110
	Modification date	20200313	20200313
	UniProtAcc	Q9NZ08	Q8NAP1
	Ensembl transtripts involved in fusion gene	ENST00000296754, ENST00000443439, ENST00000514604,	ENST00000309190, ENST00000325674, ENST00000338252, ENST00000341926, ENST00000359176, ENST00000395812, ENST00000395813, ENST00000504465, ENST00000508608, ENST00000508830, ENST00000509903, ENST00000510756, ENST00000511049, ENST00000511782, ENST00000348386, ENST00000508579, ENST00000515663,
Fusion gene scores	* DoF score	5 X 6 X 3=90	10 X 9 X 8=720
	# samples	6	13
	** MAII score	log2(6/90*10)=-0.584962500721156 possibly effective Gene in Pan-Cancer Fusion Genes (peGinPCFGs). DoF>8 and MAII<0	log2(13/720*10)=-2.46948528330122 possibly effective Gene in Pan-Cancer Fusion Genes (peGinPCFGs). DoF>8 and MAII<0
Context	PubMed: ERAP1 [Title/Abstract] AND CAST [Title/Abstract] AND fusion [Title/Abstract]
Most frequent breakpoint	CAST(96110470)-ERAP1(96110666), # samples:4 ERAP1(96143562)-CAST(96093147), # samples:1 ERAP1(96109993)-CAST(96109284), # 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	ERAP1	GO:0006509	membrane protein ectodomain proteolysis	12748171

Fusion gene breakpoints across ERAP1 (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 CAST (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
ChimerDB4	OV	TCGA-04-1651	ERAP1	chr5	96143562	-	CAST	chr5	96093147	+
ChiTaRS5.0	N/A	CV573006	ERAP1	chr5	96109993	-	CAST	chr5	96109284	+

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Fusion Gene ORF analysis for ERAP1-CAST

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
5UTR-3CDS	ENST00000296754	ENST00000309190	ERAP1	chr5	96143562	-	CAST	chr5	96093147	+
5UTR-3CDS	ENST00000296754	ENST00000325674	ERAP1	chr5	96143562	-	CAST	chr5	96093147	+
5UTR-3CDS	ENST00000296754	ENST00000338252	ERAP1	chr5	96143562	-	CAST	chr5	96093147	+
5UTR-3CDS	ENST00000296754	ENST00000341926	ERAP1	chr5	96143562	-	CAST	chr5	96093147	+
5UTR-3CDS	ENST00000296754	ENST00000359176	ERAP1	chr5	96143562	-	CAST	chr5	96093147	+
5UTR-3CDS	ENST00000296754	ENST00000395812	ERAP1	chr5	96143562	-	CAST	chr5	96093147	+
5UTR-3CDS	ENST00000296754	ENST00000395813	ERAP1	chr5	96143562	-	CAST	chr5	96093147	+
5UTR-3CDS	ENST00000296754	ENST00000504465	ERAP1	chr5	96143562	-	CAST	chr5	96093147	+
5UTR-3CDS	ENST00000296754	ENST00000508608	ERAP1	chr5	96143562	-	CAST	chr5	96093147	+
5UTR-3CDS	ENST00000296754	ENST00000508830	ERAP1	chr5	96143562	-	CAST	chr5	96093147	+
5UTR-3CDS	ENST00000296754	ENST00000509903	ERAP1	chr5	96143562	-	CAST	chr5	96093147	+
5UTR-3CDS	ENST00000296754	ENST00000510756	ERAP1	chr5	96143562	-	CAST	chr5	96093147	+
5UTR-3CDS	ENST00000296754	ENST00000511049	ERAP1	chr5	96143562	-	CAST	chr5	96093147	+
5UTR-3CDS	ENST00000296754	ENST00000511782	ERAP1	chr5	96143562	-	CAST	chr5	96093147	+
5UTR-3CDS	ENST00000443439	ENST00000309190	ERAP1	chr5	96143562	-	CAST	chr5	96093147	+
5UTR-3CDS	ENST00000443439	ENST00000325674	ERAP1	chr5	96143562	-	CAST	chr5	96093147	+
5UTR-3CDS	ENST00000443439	ENST00000338252	ERAP1	chr5	96143562	-	CAST	chr5	96093147	+
5UTR-3CDS	ENST00000443439	ENST00000341926	ERAP1	chr5	96143562	-	CAST	chr5	96093147	+
5UTR-3CDS	ENST00000443439	ENST00000359176	ERAP1	chr5	96143562	-	CAST	chr5	96093147	+
5UTR-3CDS	ENST00000443439	ENST00000395812	ERAP1	chr5	96143562	-	CAST	chr5	96093147	+
5UTR-3CDS	ENST00000443439	ENST00000395813	ERAP1	chr5	96143562	-	CAST	chr5	96093147	+
5UTR-3CDS	ENST00000443439	ENST00000504465	ERAP1	chr5	96143562	-	CAST	chr5	96093147	+
5UTR-3CDS	ENST00000443439	ENST00000508608	ERAP1	chr5	96143562	-	CAST	chr5	96093147	+
5UTR-3CDS	ENST00000443439	ENST00000508830	ERAP1	chr5	96143562	-	CAST	chr5	96093147	+
5UTR-3CDS	ENST00000443439	ENST00000509903	ERAP1	chr5	96143562	-	CAST	chr5	96093147	+
5UTR-3CDS	ENST00000443439	ENST00000510756	ERAP1	chr5	96143562	-	CAST	chr5	96093147	+
5UTR-3CDS	ENST00000443439	ENST00000511049	ERAP1	chr5	96143562	-	CAST	chr5	96093147	+
5UTR-3CDS	ENST00000443439	ENST00000511782	ERAP1	chr5	96143562	-	CAST	chr5	96093147	+
5UTR-3UTR	ENST00000296754	ENST00000348386	ERAP1	chr5	96143562	-	CAST	chr5	96093147	+
5UTR-3UTR	ENST00000296754	ENST00000508579	ERAP1	chr5	96143562	-	CAST	chr5	96093147	+
5UTR-3UTR	ENST00000296754	ENST00000515663	ERAP1	chr5	96143562	-	CAST	chr5	96093147	+
5UTR-3UTR	ENST00000443439	ENST00000348386	ERAP1	chr5	96143562	-	CAST	chr5	96093147	+
5UTR-3UTR	ENST00000443439	ENST00000508579	ERAP1	chr5	96143562	-	CAST	chr5	96093147	+
5UTR-3UTR	ENST00000443439	ENST00000515663	ERAP1	chr5	96143562	-	CAST	chr5	96093147	+
intron-3CDS	ENST00000514604	ENST00000309190	ERAP1	chr5	96143562	-	CAST	chr5	96093147	+
intron-3CDS	ENST00000514604	ENST00000325674	ERAP1	chr5	96143562	-	CAST	chr5	96093147	+
intron-3CDS	ENST00000514604	ENST00000338252	ERAP1	chr5	96143562	-	CAST	chr5	96093147	+
intron-3CDS	ENST00000514604	ENST00000341926	ERAP1	chr5	96143562	-	CAST	chr5	96093147	+
intron-3CDS	ENST00000514604	ENST00000359176	ERAP1	chr5	96143562	-	CAST	chr5	96093147	+
intron-3CDS	ENST00000514604	ENST00000395812	ERAP1	chr5	96143562	-	CAST	chr5	96093147	+
intron-3CDS	ENST00000514604	ENST00000395813	ERAP1	chr5	96143562	-	CAST	chr5	96093147	+
intron-3CDS	ENST00000514604	ENST00000504465	ERAP1	chr5	96143562	-	CAST	chr5	96093147	+
intron-3CDS	ENST00000514604	ENST00000508608	ERAP1	chr5	96143562	-	CAST	chr5	96093147	+
intron-3CDS	ENST00000514604	ENST00000508830	ERAP1	chr5	96143562	-	CAST	chr5	96093147	+
intron-3CDS	ENST00000514604	ENST00000509903	ERAP1	chr5	96143562	-	CAST	chr5	96093147	+
intron-3CDS	ENST00000514604	ENST00000510756	ERAP1	chr5	96143562	-	CAST	chr5	96093147	+
intron-3CDS	ENST00000514604	ENST00000511049	ERAP1	chr5	96143562	-	CAST	chr5	96093147	+
intron-3CDS	ENST00000514604	ENST00000511782	ERAP1	chr5	96143562	-	CAST	chr5	96093147	+
intron-3UTR	ENST00000296754	ENST00000309190	ERAP1	chr5	96109993	-	CAST	chr5	96109284	+
intron-3UTR	ENST00000296754	ENST00000325674	ERAP1	chr5	96109993	-	CAST	chr5	96109284	+
intron-3UTR	ENST00000296754	ENST00000359176	ERAP1	chr5	96109993	-	CAST	chr5	96109284	+
intron-3UTR	ENST00000296754	ENST00000395812	ERAP1	chr5	96109993	-	CAST	chr5	96109284	+
intron-3UTR	ENST00000296754	ENST00000395813	ERAP1	chr5	96109993	-	CAST	chr5	96109284	+
intron-3UTR	ENST00000443439	ENST00000309190	ERAP1	chr5	96109993	-	CAST	chr5	96109284	+
intron-3UTR	ENST00000443439	ENST00000325674	ERAP1	chr5	96109993	-	CAST	chr5	96109284	+
intron-3UTR	ENST00000443439	ENST00000359176	ERAP1	chr5	96109993	-	CAST	chr5	96109284	+
intron-3UTR	ENST00000443439	ENST00000395812	ERAP1	chr5	96109993	-	CAST	chr5	96109284	+
intron-3UTR	ENST00000443439	ENST00000395813	ERAP1	chr5	96109993	-	CAST	chr5	96109284	+
intron-3UTR	ENST00000514604	ENST00000309190	ERAP1	chr5	96109993	-	CAST	chr5	96109284	+
intron-3UTR	ENST00000514604	ENST00000325674	ERAP1	chr5	96109993	-	CAST	chr5	96109284	+
intron-3UTR	ENST00000514604	ENST00000348386	ERAP1	chr5	96143562	-	CAST	chr5	96093147	+
intron-3UTR	ENST00000514604	ENST00000359176	ERAP1	chr5	96109993	-	CAST	chr5	96109284	+
intron-3UTR	ENST00000514604	ENST00000395812	ERAP1	chr5	96109993	-	CAST	chr5	96109284	+
intron-3UTR	ENST00000514604	ENST00000395813	ERAP1	chr5	96109993	-	CAST	chr5	96109284	+
intron-3UTR	ENST00000514604	ENST00000508579	ERAP1	chr5	96143562	-	CAST	chr5	96093147	+
intron-3UTR	ENST00000514604	ENST00000515663	ERAP1	chr5	96143562	-	CAST	chr5	96093147	+
intron-intron	ENST00000296754	ENST00000338252	ERAP1	chr5	96109993	-	CAST	chr5	96109284	+
intron-intron	ENST00000296754	ENST00000341926	ERAP1	chr5	96109993	-	CAST	chr5	96109284	+
intron-intron	ENST00000296754	ENST00000348386	ERAP1	chr5	96109993	-	CAST	chr5	96109284	+
intron-intron	ENST00000296754	ENST00000504465	ERAP1	chr5	96109993	-	CAST	chr5	96109284	+
intron-intron	ENST00000296754	ENST00000508579	ERAP1	chr5	96109993	-	CAST	chr5	96109284	+
intron-intron	ENST00000296754	ENST00000508608	ERAP1	chr5	96109993	-	CAST	chr5	96109284	+
intron-intron	ENST00000296754	ENST00000508830	ERAP1	chr5	96109993	-	CAST	chr5	96109284	+
intron-intron	ENST00000296754	ENST00000509903	ERAP1	chr5	96109993	-	CAST	chr5	96109284	+
intron-intron	ENST00000296754	ENST00000510756	ERAP1	chr5	96109993	-	CAST	chr5	96109284	+
intron-intron	ENST00000296754	ENST00000511049	ERAP1	chr5	96109993	-	CAST	chr5	96109284	+
intron-intron	ENST00000296754	ENST00000511782	ERAP1	chr5	96109993	-	CAST	chr5	96109284	+
intron-intron	ENST00000296754	ENST00000515663	ERAP1	chr5	96109993	-	CAST	chr5	96109284	+
intron-intron	ENST00000443439	ENST00000338252	ERAP1	chr5	96109993	-	CAST	chr5	96109284	+
intron-intron	ENST00000443439	ENST00000341926	ERAP1	chr5	96109993	-	CAST	chr5	96109284	+
intron-intron	ENST00000443439	ENST00000348386	ERAP1	chr5	96109993	-	CAST	chr5	96109284	+
intron-intron	ENST00000443439	ENST00000504465	ERAP1	chr5	96109993	-	CAST	chr5	96109284	+
intron-intron	ENST00000443439	ENST00000508579	ERAP1	chr5	96109993	-	CAST	chr5	96109284	+
intron-intron	ENST00000443439	ENST00000508608	ERAP1	chr5	96109993	-	CAST	chr5	96109284	+
intron-intron	ENST00000443439	ENST00000508830	ERAP1	chr5	96109993	-	CAST	chr5	96109284	+
intron-intron	ENST00000443439	ENST00000509903	ERAP1	chr5	96109993	-	CAST	chr5	96109284	+
intron-intron	ENST00000443439	ENST00000510756	ERAP1	chr5	96109993	-	CAST	chr5	96109284	+
intron-intron	ENST00000443439	ENST00000511049	ERAP1	chr5	96109993	-	CAST	chr5	96109284	+
intron-intron	ENST00000443439	ENST00000511782	ERAP1	chr5	96109993	-	CAST	chr5	96109284	+
intron-intron	ENST00000443439	ENST00000515663	ERAP1	chr5	96109993	-	CAST	chr5	96109284	+
intron-intron	ENST00000514604	ENST00000338252	ERAP1	chr5	96109993	-	CAST	chr5	96109284	+
intron-intron	ENST00000514604	ENST00000341926	ERAP1	chr5	96109993	-	CAST	chr5	96109284	+
intron-intron	ENST00000514604	ENST00000348386	ERAP1	chr5	96109993	-	CAST	chr5	96109284	+
intron-intron	ENST00000514604	ENST00000504465	ERAP1	chr5	96109993	-	CAST	chr5	96109284	+
intron-intron	ENST00000514604	ENST00000508579	ERAP1	chr5	96109993	-	CAST	chr5	96109284	+
intron-intron	ENST00000514604	ENST00000508608	ERAP1	chr5	96109993	-	CAST	chr5	96109284	+
intron-intron	ENST00000514604	ENST00000508830	ERAP1	chr5	96109993	-	CAST	chr5	96109284	+
intron-intron	ENST00000514604	ENST00000509903	ERAP1	chr5	96109993	-	CAST	chr5	96109284	+
intron-intron	ENST00000514604	ENST00000510756	ERAP1	chr5	96109993	-	CAST	chr5	96109284	+
intron-intron	ENST00000514604	ENST00000511049	ERAP1	chr5	96109993	-	CAST	chr5	96109284	+
intron-intron	ENST00000514604	ENST00000511782	ERAP1	chr5	96109993	-	CAST	chr5	96109284	+
intron-intron	ENST00000514604	ENST00000515663	ERAP1	chr5	96109993	-	CAST	chr5	96109284	+

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 ERAP1-CAST

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)
ERAP1	chr5	96143562	-	CAST	chr5	96093147	+	0.8719462	0.12805384
ERAP1	chr5	96143562	-	CAST	chr5	96093147	+	0.8719462	0.12805384

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 ERAP1-CAST

Four levels of functional features of fusion genes
Go to FGviewer search page for the most frequent breakpoint (https://ccsmweb.uth.edu/FGviewer/:96110470/:96110666)
- 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
ERAP1 Q9NZ08	CAST Q8NAP1
FUNCTION: Aminopeptidase that plays a central role in peptide trimming, a step required for the generation of most HLA class I-binding peptides. Peptide trimming is essential to customize longer precursor peptides to fit them to the correct length required for presentation on MHC class I molecules. Strongly prefers substrates 9-16 residues long. Rapidly degrades 13-mer to a 9-mer and then stops. Preferentially hydrolyzes the residue Leu and peptides with a hydrophobic C-terminus, while it has weak activity toward peptides with charged C-terminus. May play a role in the inactivation of peptide hormones. May be involved in the regulation of blood pressure through the inactivation of angiotensin II and/or the generation of bradykinin in the kidney. {ECO:0000269\|PubMed:15908954, ECO:0000269\|PubMed:16286653, ECO:0000269\|PubMed:21478864}.

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 ERAP1-CAST

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 ERAP1-CAST

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 ERAP1-CAST

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 ERAP1-CAST

Diseases associated with fusion partners.
(DisGeNet 4.0)

Partner

Gene

Disease ID

Disease name

# pubmeds

Source