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	Fusion Gene Summary
	Fusion Gene Sample Information
	Fusion ORF Analysis
	Fusion Amino Acid Sequences
	Fusion Protein Functional Features
	Fusion Protein-Protein Interaction
	Related drugs with this fusion protein
	Related disease with this fusion protein

Fusion Protein:ECE1-PCP4

Fusion Protein Summary

Fusion gene summary

Fusion partner gene information	Fusion gene name: ECE1-PCP4
	FusionPDB ID: 24856
	FusionGDB2.0 ID: 24856
		Hgene	Tgene
	Gene symbol	ECE1	PCP4
	Gene ID	1889	5121
	Gene name	endothelin converting enzyme 1	Purkinje cell protein 4
	Synonyms	ECE	PEP-19
	Cytomap	1p36.12	21q22.2
	Type of gene	protein-coding	protein-coding
	Description	endothelin-converting enzyme 1ECE-1	calmodulin regulator protein PCP4brain specific polypeptide PEP19brain-specific antigen PCP-4brain-specific polypeptide PEP-19
	Modification date	20200313	20200313
	UniProtAcc	P42892	.
Ensembl transtripts involved in fusion gene	ENST ids	ENST00000264205, ENST00000357071, ENST00000374893, ENST00000415912, ENST00000436918, ENST00000528294,	ENST00000468717, ENST00000328619,
Fusion gene scores for assessment (based on all fusion genes of FusionGDB 2.0)	* DoF score	16 X 15 X 9=2160	12 X 8 X 8=768
	# samples	18	13
	** MAII score	log2(18/2160*10)=-3.58496250072116 possibly effective Gene in Pan-Cancer Fusion Genes (peGinPCFGs). DoF>8 and MAII<0	log2(13/768*10)=-2.5625946876927 possibly effective Gene in Pan-Cancer Fusion Genes (peGinPCFGs). DoF>8 and MAII<0
Context (manual curation of fusion genes in FusionPDB)	PubMed: ECE1 [Title/Abstract] AND PCP4 [Title/Abstract] AND fusion [Title/Abstract]
Most frequent breakpoint (based on all fusion genes of FusionGDB 2.0)	ECE1(21571482)-PCP4(41270401), # samples:1
Anticipated loss of major functional domain due to fusion event.	ECE1-PCP4 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. ECE1-PCP4 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. ECE1-PCP4 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. ECE1-PCP4 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)

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	ECE1	GO:0010814	substance P catabolic process	18039931
Hgene	ECE1	GO:0010815	bradykinin catabolic process	18039931
Hgene	ECE1	GO:0010816	calcitonin catabolic process	18039931
Hgene	ECE1	GO:0016485	protein processing	7805846
Hgene	ECE1	GO:0016486	peptide hormone processing	7864876
Hgene	ECE1	GO:0034959	endothelin maturation	7805846
Hgene	ECE1	GO:0042447	hormone catabolic process	7864876

Fusion gene breakpoints across ECE1 (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 PCP4 (3'-gene)
* Click on the image to open the UCSC genome browser with custom track showing this image in a new window.

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Fusion Gene Sample Information

Fusion gene information from FusionGDB2.0.

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	LUAD	TCGA-49-4501-01A	ECE1	chr1	21571482	-	PCP4	chr21	41270401	+

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Fusion ORF Analysis

Fusion information from ORFfinder translation from full-length transcript sequence from FusionPDB.

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)
ENST00000415912	ECE1	chr1	21571482	-	ENST00000328619	PCP4	chr21	41270401	+	1822	1356	126	1535	469
ENST00000357071	ECE1	chr1	21571482	-	ENST00000328619	PCP4	chr21	41270401	+	1823	1357	46	1536	496
ENST00000374893	ECE1	chr1	21571482	-	ENST00000328619	PCP4	chr21	41270401	+	1819	1353	63	1532	489
ENST00000436918	ECE1	chr1	21571482	-	ENST00000328619	PCP4	chr21	41270401	+	1794	1328	38	1507	489
ENST00000264205	ECE1	chr1	21571482	-	ENST00000328619	PCP4	chr21	41270401	+	1794	1328	59	1507	482

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
ENST00000415912	ENST00000328619	ECE1	chr1	21571482	-	PCP4	chr21	41270401	+	0.012173221	0.98782676
ENST00000357071	ENST00000328619	ECE1	chr1	21571482	-	PCP4	chr21	41270401	+	0.007667148	0.9923328
ENST00000374893	ENST00000328619	ECE1	chr1	21571482	-	PCP4	chr21	41270401	+	0.00381344	0.99618655
ENST00000436918	ENST00000328619	ECE1	chr1	21571482	-	PCP4	chr21	41270401	+	0.003872473	0.99612755
ENST00000264205	ENST00000328619	ECE1	chr1	21571482	-	PCP4	chr21	41270401	+	0.003954306	0.99604565

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Fusion Amino Acid Sequences

For individual full-length fusion transcript sequence from FusionPDB, we ran ORFfinder and chose the longest ORF among the all predicted ones.

>FusionGDB ID_FusionGDB isoform ID_FGname_Hgene_Hchr_Hbp_Henst_Tgene_Tchr_Tbp_Tenst_length(fusion AA) seq_BP

>24856_24856_1_ECE1-PCP4_ECE1_chr1_21571482_ENST00000264205_PCP4_chr21_41270401_ENST00000328619_length(amino acids)=482AA_BP=423
MEALRESVLHLALQMSTYKRATLDEEDLVDSLSEGDAYPNGLQVNFHSPRSGQRCWAARTQVEKRLVVLVVLLAAGLVACLAALGIQYQT
RSPSVCLSEACVSVTSSILSSMDPTVDPCHDFFSYACGGWIKANPVPDGHSRWGTFSNLWEHNQAIIKHLLENSTASVSEAERKAQVYYR
ACMNETRIEELRAKPLMELIERLGGWNITGPWAKDNFQDTLQVVTAHYRTSPFFSVYVSADSKNSNSNVIQVDQSGLGLPSRDYYLNKTE
NEKVLTGYLNYMVQLGKLLGGGDEEAIRPQMQQILDFETALANITIPQEKRRDEELIYHKVTAAELQTLAPAINWLPFLNTIFYPVEINE
SEPIVVYDKEYLEQISTLINTTDRCLLNNYMIWNLVRKTSSFLDQRFQDADEKFMEVMYGTKKRQGAGATNGKDKTSGENDGQKKVQEEF

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

>24856_24856_2_ECE1-PCP4_ECE1_chr1_21571482_ENST00000357071_PCP4_chr21_41270401_ENST00000328619_length(amino acids)=496AA_BP=437
MFLSWIRAESVGTRPPLRQEAALMPLQGLGLQRNPFLQGKRGPGLTSSPPLLPPSLQVNFHSPRSGQRCWAARTQVEKRLVVLVVLLAAG
LVACLAALGIQYQTRSPSVCLSEACVSVTSSILSSMDPTVDPCHDFFSYACGGWIKANPVPDGHSRWGTFSNLWEHNQAIIKHLLENSTA
SVSEAERKAQVYYRACMNETRIEELRAKPLMELIERLGGWNITGPWAKDNFQDTLQVVTAHYRTSPFFSVYVSADSKNSNSNVIQVDQSG
LGLPSRDYYLNKTENEKVLTGYLNYMVQLGKLLGGGDEEAIRPQMQQILDFETALANITIPQEKRRDEELIYHKVTAAELQTLAPAINWL
PFLNTIFYPVEINESEPIVVYDKEYLEQISTLINTTDRCLLNNYMIWNLVRKTSSFLDQRFQDADEKFMEVMYGTKKRQGAGATNGKDKT

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

>24856_24856_3_ECE1-PCP4_ECE1_chr1_21571482_ENST00000374893_PCP4_chr21_41270401_ENST00000328619_length(amino acids)=489AA_BP=430
MGHSMRGVWPPPVSALLSALGMSTYKRATLDEEDLVDSLSEGDAYPNGLQVNFHSPRSGQRCWAARTQVEKRLVVLVVLLAAGLVACLAA
LGIQYQTRSPSVCLSEACVSVTSSILSSMDPTVDPCHDFFSYACGGWIKANPVPDGHSRWGTFSNLWEHNQAIIKHLLENSTASVSEAER
KAQVYYRACMNETRIEELRAKPLMELIERLGGWNITGPWAKDNFQDTLQVVTAHYRTSPFFSVYVSADSKNSNSNVIQVDQSGLGLPSRD
YYLNKTENEKVLTGYLNYMVQLGKLLGGGDEEAIRPQMQQILDFETALANITIPQEKRRDEELIYHKVTAAELQTLAPAINWLPFLNTIF
YPVEINESEPIVVYDKEYLEQISTLINTTDRCLLNNYMIWNLVRKTSSFLDQRFQDADEKFMEVMYGTKKRQGAGATNGKDKTSGENDGQ

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

>24856_24856_4_ECE1-PCP4_ECE1_chr1_21571482_ENST00000415912_PCP4_chr21_41270401_ENST00000328619_length(amino acids)=469AA_BP=410
MMSTYKRATLDEEDLVDSLSEGDAYPNGLQVNFHSPRSGQRCWAARTQVEKRLVVLVVLLAAGLVACLAALGIQYQTRSPSVCLSEACVS
VTSSILSSMDPTVDPCHDFFSYACGGWIKANPVPDGHSRWGTFSNLWEHNQAIIKHLLENSTASVSEAERKAQVYYRACMNETRIEELRA
KPLMELIERLGGWNITGPWAKDNFQDTLQVVTAHYRTSPFFSVYVSADSKNSNSNVIQVDQSGLGLPSRDYYLNKTENEKVLTGYLNYMV
QLGKLLGGGDEEAIRPQMQQILDFETALANITIPQEKRRDEELIYHKVTAAELQTLAPAINWLPFLNTIFYPVEINESEPIVVYDKEYLE
QISTLINTTDRCLLNNYMIWNLVRKTSSFLDQRFQDADEKFMEVMYGTKKRQGAGATNGKDKTSGENDGQKKVQEEFDIDMDAPETERAA

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

>24856_24856_5_ECE1-PCP4_ECE1_chr1_21571482_ENST00000436918_PCP4_chr21_41270401_ENST00000328619_length(amino acids)=489AA_BP=430
MGHSMRGVWPPPVSALLSALGMSTYKRATLDEEDLVDSLSEGDAYPNGLQVNFHSPRSGQRCWAARTQVEKRLVVLVVLLAAGLVACLAA
LGIQYQTRSPSVCLSEACVSVTSSILSSMDPTVDPCHDFFSYACGGWIKANPVPDGHSRWGTFSNLWEHNQAIIKHLLENSTASVSEAER
KAQVYYRACMNETRIEELRAKPLMELIERLGGWNITGPWAKDNFQDTLQVVTAHYRTSPFFSVYVSADSKNSNSNVIQVDQSGLGLPSRD
YYLNKTENEKVLTGYLNYMVQLGKLLGGGDEEAIRPQMQQILDFETALANITIPQEKRRDEELIYHKVTAAELQTLAPAINWLPFLNTIF
YPVEINESEPIVVYDKEYLEQISTLINTTDRCLLNNYMIWNLVRKTSSFLDQRFQDADEKFMEVMYGTKKRQGAGATNGKDKTSGENDGQ

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

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Fusion Protein Functional Features

Four levels of functional features of fusion genes
Go to FGviewer search page for the most frequent breakpoint (https://ccsmweb.uth.edu/FGviewer/chr1:21571482/chr21:41270401)
- 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
ECE1 P42892	.
FUNCTION: Converts big endothelin-1 to endothelin-1. {ECO:0000269\|PubMed:9396733}.	FUNCTION: Might normally function as a transcriptional repressor. EWS-fusion-proteins (EFPS) may play a role in the tumorigenic process. They may disturb gene expression by mimicking, or interfering with the normal function of CTD-POLII within the transcription initiation complex. They may also contribute to an aberrant activation of the fusion protein target genes.

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.

- 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

Hgene

ECE1

chr1:21571482

chr21:41270401

ENST00000264205

1_68

423.0

768.0

Topological domain

Cytoplasmic

Hgene

ECE1

chr1:21571482

chr21:41270401

ENST00000357071

1_68

414.0

759.0

Topological domain

Cytoplasmic

Hgene

ECE1

chr1:21571482

chr21:41270401

ENST00000374893

1_68

426.0

771.0

Topological domain

Cytoplasmic

Hgene

ECE1

chr1:21571482

chr21:41270401

ENST00000415912

1_68

410.0

755.0

Topological domain

Cytoplasmic

Hgene

ECE1

chr1:21571482

chr21:41270401

ENST00000264205

69_89

423.0

768.0

Transmembrane

Helical%3B Signal-anchor for type II membrane protein

Hgene

ECE1

chr1:21571482

chr21:41270401

ENST00000357071

69_89

414.0

759.0

Transmembrane

Helical%3B Signal-anchor for type II membrane protein

Hgene

ECE1

chr1:21571482

chr21:41270401

ENST00000374893

69_89

426.0

771.0

Transmembrane

Helical%3B Signal-anchor for type II membrane protein

Hgene

ECE1

chr1:21571482

chr21:41270401

ENST00000415912

69_89

410.0

755.0

Transmembrane

Helical%3B Signal-anchor for type II membrane protein

Tgene

PCP4

chr1:21571482

chr21:41270401

ENST00000328619

39_62

3.0

63.0

Domain

Tgene

PCP4

chr1:21571482

chr21:41270401

ENST00000328619

28_40

3.0

63.0

Region

Acidic%3B binds calcium and is required for modulating the calcium-binding kinetics of calmodulin

- 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

Hgene

ECE1

chr1:21571482

chr21:41270401

ENST00000264205

98_770

423.0

768.0

Domain

Peptidase M13

Hgene

ECE1

chr1:21571482

chr21:41270401

ENST00000357071

98_770

414.0

759.0

Domain

Peptidase M13

Hgene

ECE1

chr1:21571482

chr21:41270401

ENST00000374893

98_770

426.0

771.0

Domain

Peptidase M13

Hgene

ECE1

chr1:21571482

chr21:41270401

ENST00000415912

98_770

410.0

755.0

Domain

Peptidase M13

Hgene

ECE1

chr1:21571482

chr21:41270401

ENST00000264205

90_770

423.0

768.0

Topological domain

Extracellular

Hgene

ECE1

chr1:21571482

chr21:41270401

ENST00000357071

90_770

414.0

759.0

Topological domain

Extracellular

Hgene

ECE1

chr1:21571482

chr21:41270401

ENST00000374893

90_770

426.0

771.0

Topological domain

Extracellular

Hgene

ECE1

chr1:21571482

chr21:41270401

ENST00000415912

90_770

410.0

755.0

Topological domain

Extracellular

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Fusion Protein-Protein Interaction

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 from validated records (BIOGRID-3.4.160)

Gene

PPI interactors

Protein-protein interactors based on sequence similarity (STRING)

Gene	STRING network
ECE1
PCP4

- Retained interactions in fusion protein (protein functional feature from UniProt).

Partner

Gene

Hbp

Tbp

ENST

Strand

BPexon

TotalExon

Protein feature loci

*BPloci

TotalLen

Still interaction with

- Lost interactions due to fusion (protein functional feature from UniProt).

Partner

Gene

Hbp

Tbp

ENST

Strand

BPexon

TotalExon

Protein feature loci

*BPloci

TotalLen

Interaction lost with

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Related Drugs to ECE1-PCP4

Drugs used for this fusion-positive patient.
(Manual curation of PubMed, 04-30-2022 + MyCancerGenome)

Hgene

Tgene

Drug

Source

PMID

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Related Diseases to ECE1-PCP4

Diseases that have this fusion gene.
(Manual curation of PubMed, 04-30-2022 + MyCancerGenome)

Hgene

Tgene

Disease

Source

PMID

Diseases associated with fusion partners.
(DisGeNet 4.0)

Partner

Gene

Disease ID

Disease name

# pubmeds

Source