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	Fusion Gene Summary
	Fusion Gene Sample Information
	Fusion ORF Analysis
	Fusion Amino Acid Sequences
	Fusion Protein Functional Features
	Fusion Protein Structure
	pLDDT scores
	Ramachandran Plot of Fusion Protein Structure
	Fusion Protein-Protein Interaction
	Related drugs with this fusion protein
	Related disease with this fusion protein

Fusion Protein:ERLEC1-ACYP2

Fusion Protein Summary

Fusion gene summary

Fusion partner gene information	Fusion gene name: ERLEC1-ACYP2
	FusionPDB ID: 27413
	FusionGDB2.0 ID: 27413
		Hgene	Tgene
	Gene symbol	ERLEC1	ACYP2
	Gene ID	27248	98
	Gene name	endoplasmic reticulum lectin 1	acylphosphatase 2
	Synonyms	C2orf30\|CIM\|CL24936\|CL25084\|HEL117\|XTP3-B\|XTP3TPB	ACYM\|ACYP
	Cytomap	2p16.2	2p16.2
	Type of gene	protein-coding	protein-coding
	Description	endoplasmic reticulum lectin 1ER lectinXTP3-transactivated gene B proteinXTP3-transactivated protein Bcancer invasion and metastasis-relatedepididymis luminal protein 117erlectin 1	acylphosphatase-2acylphosphatase 2, muscle typeacylphosphatase, muscle type isozymeacylphosphate phosphohydrolase 2testicular tissue protein Li 11
	Modification date	20200313	20200313
	UniProtAcc	Q96DZ1	P14621
Ensembl transtripts involved in fusion gene	ENST ids	ENST00000185150, ENST00000378239, ENST00000405123, ENST00000494373,	ENST00000303536, ENST00000394666, ENST00000422521, ENST00000458030, ENST00000606865, ENST00000406041, ENST00000606082, ENST00000607452,
Fusion gene scores for assessment (based on all fusion genes of FusionGDB 2.0)	* DoF score	5 X 5 X 6=150	8 X 7 X 6=336
	# samples	6	10
	** MAII score	log2(6/150*10)=-1.32192809488736 possibly effective Gene in Pan-Cancer Fusion Genes (peGinPCFGs). DoF>8 and MAII<0	log2(10/336*10)=-1.74846123300404 possibly effective Gene in Pan-Cancer Fusion Genes (peGinPCFGs). DoF>8 and MAII<0
Context (manual curation of fusion genes in FusionPDB)	PubMed: ERLEC1 [Title/Abstract] AND ACYP2 [Title/Abstract] AND fusion [Title/Abstract]
Most frequent breakpoint (based on all fusion genes of FusionGDB 2.0)	ERLEC1(54040210)-ACYP2(54278095), # samples:2
Anticipated loss of major functional domain due to fusion event.	ERLEC1-ACYP2 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. ERLEC1-ACYP2 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. ERLEC1-ACYP2 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. ERLEC1-ACYP2 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

Fusion gene breakpoints across ERLEC1 (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 ACYP2 (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-L9-A8F4-01A	ERLEC1	chr2	54040210	+	ACYP2	chr2	54278095	+
ChimerDB4	LUAD	TCGA-L9-A8F4	ERLEC1	chr2	54040210	+	ACYP2	chr2	54278095	+
ChimerDB4	PRAD	TCGA-EJ-5515-01A	ERLEC1	chr2	54028979	+	ACYP2	chr2	54531825	+

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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)
ENST00000405123	ERLEC1	chr2	54040210	+	ENST00000607452	ACYP2	chr2	54278095	+	1871	1357	131	1813	560
ENST00000185150	ERLEC1	chr2	54040210	+	ENST00000607452	ACYP2	chr2	54278095	+	1871	1357	131	1813	560
ENST00000378239	ERLEC1	chr2	54040210	+	ENST00000607452	ACYP2	chr2	54278095	+	1709	1195	131	1651	506
ENST00000405123	ERLEC1	chr2	54028979	+	ENST00000607452	ACYP2	chr2	54531825	+	1182	1010	131	1042	303
ENST00000185150	ERLEC1	chr2	54028979	+	ENST00000607452	ACYP2	chr2	54531825	+	1182	1010	131	1042	303
ENST00000378239	ERLEC1	chr2	54028979	+	ENST00000607452	ACYP2	chr2	54531825	+	1182	1010	131	1042	303

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
ENST00000405123	ENST00000607452	ERLEC1	chr2	54040210	+	ACYP2	chr2	54278095	+	0.001792626	0.99820733
ENST00000185150	ENST00000607452	ERLEC1	chr2	54040210	+	ACYP2	chr2	54278095	+	0.001792626	0.99820733
ENST00000378239	ENST00000607452	ERLEC1	chr2	54040210	+	ACYP2	chr2	54278095	+	0.001483172	0.99851686
ENST00000405123	ENST00000607452	ERLEC1	chr2	54028979	+	ACYP2	chr2	54531825	+	0.002646586	0.99735343
ENST00000185150	ENST00000607452	ERLEC1	chr2	54028979	+	ACYP2	chr2	54531825	+	0.002646586	0.99735343
ENST00000378239	ENST00000607452	ERLEC1	chr2	54028979	+	ACYP2	chr2	54531825	+	0.002646586	0.99735343

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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

>27413_27413_1_ERLEC1-ACYP2_ERLEC1_chr2_54028979_ENST00000185150_ACYP2_chr2_54531825_ENST00000607452_length(amino acids)=303AA_BP=
MEEGGGGVRSLVPGGPVLLVLCGLLEASGGGRALPQLSDDIPFRVNWPGTEFSLPTTGVLYKEDNYVIMTTAHKEKYKCILPLVTSGDEE
EEKDYKGPNPRELLEPLFKQSSCSYRIESYWTYEVCHGKHIRQYHEEKETGQKINIHEYYLGNMLAKNLLFEKEREAEEKEKSNEIPTKN
IEGQMTPYYPVGMGNGTPCSLKQNRPRSSTVMYICHPESKHEILSVAEVTTCEYEVVILTPLLCSHPKYRFRASPVNDIFCQSLPGSPFK

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

>27413_27413_2_ERLEC1-ACYP2_ERLEC1_chr2_54028979_ENST00000378239_ACYP2_chr2_54531825_ENST00000607452_length(amino acids)=303AA_BP=
MEEGGGGVRSLVPGGPVLLVLCGLLEASGGGRALPQLSDDIPFRVNWPGTEFSLPTTGVLYKEDNYVIMTTAHKEKYKCILPLVTSGDEE
EEKDYKGPNPRELLEPLFKQSSCSYRIESYWTYEVCHGKHIRQYHEEKETGQKINIHEYYLGNMLAKNLLFEKEREAEEKEKSNEIPTKN
IEGQMTPYYPVGMGNGTPCSLKQNRPRSSTVMYICHPESKHEILSVAEVTTCEYEVVILTPLLCSHPKYRFRASPVNDIFCQSLPGSPFK

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

>27413_27413_3_ERLEC1-ACYP2_ERLEC1_chr2_54028979_ENST00000405123_ACYP2_chr2_54531825_ENST00000607452_length(amino acids)=303AA_BP=
MEEGGGGVRSLVPGGPVLLVLCGLLEASGGGRALPQLSDDIPFRVNWPGTEFSLPTTGVLYKEDNYVIMTTAHKEKYKCILPLVTSGDEE
EEKDYKGPNPRELLEPLFKQSSCSYRIESYWTYEVCHGKHIRQYHEEKETGQKINIHEYYLGNMLAKNLLFEKEREAEEKEKSNEIPTKN
IEGQMTPYYPVGMGNGTPCSLKQNRPRSSTVMYICHPESKHEILSVAEVTTCEYEVVILTPLLCSHPKYRFRASPVNDIFCQSLPGSPFK

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

>27413_27413_4_ERLEC1-ACYP2_ERLEC1_chr2_54040210_ENST00000185150_ACYP2_chr2_54278095_ENST00000607452_length(amino acids)=560AA_BP=0
MEEGGGGVRSLVPGGPVLLVLCGLLEASGGGRALPQLSDDIPFRVNWPGTEFSLPTTGVLYKEDNYVIMTTAHKEKYKCILPLVTSGDEE
EEKDYKGPNPRELLEPLFKQSSCSYRIESYWTYEVCHGKHIRQYHEEKETGQKINIHEYYLGNMLAKNLLFEKEREAEEKEKSNEIPTKN
IEGQMTPYYPVGMGNGTPCSLKQNRPRSSTVMYICHPESKHEILSVAEVTTCEYEVVILTPLLCSHPKYRFRASPVNDIFCQSLPGSPFK
PLTLRQLEQQEEILRVPFRRNKEEDLQSTKEERFPAIHKSIAIGSQPVLTVGTTHISKLTDDQLIKEFLSGSYCFRGGVGWWKYEFCYGK
HVHQYHEDKDSGKTSVVVGTWNQEEHIEWAKKNTARAYHLQDDGTQTVRYKVSLFYLGCSRTPNVKLSSCLGLPCCWDYSYKFIQLSEFG
FGQVIIVSEEPWKENISCSSTTFIKSTICLSVCFRMYTEDEARKIGVVGWVKNTSKGTVTGQVQGPEDKVNSMKSWLSKVGSPSSRIDRT

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

>27413_27413_5_ERLEC1-ACYP2_ERLEC1_chr2_54040210_ENST00000378239_ACYP2_chr2_54278095_ENST00000607452_length(amino acids)=506AA_BP=0
MEEGGGGVRSLVPGGPVLLVLCGLLEASGGGRALPQLSDDIPFRVNWPGTEFSLPTTGVLYKEDNYVIMTTAHKEKYKCILPLVTSGDEE
EEKDYKGPNPRELLEPLFKQSSCSYRIESYWTYEVCHGKHIRQYHEEKETGQKINIHEYYLGNMLAKNLLFEKEREAEEKEKSNEIPTKN
IEGQMTPYYPVGMGNGTPCSLKQNRPRSSTVMYICHPESKHEILSVAEVTTCEYEVVILTPLLCSHPKYRFRASPVNDIFCQSLPGSPFK
PLTLRQLEQQEEILRVPFRRNKEGVGWWKYEFCYGKHVHQYHEDKDSGKTSVVVGTWNQEEHIEWAKKNTARAYHLQDDGTQTVRYKVSL
FYLGCSRTPNVKLSSCLGLPCCWDYSYKFIQLSEFGFGQVIIVSEEPWKENISCSSTTFIKSTICLSVCFRMYTEDEARKIGVVGWVKNT

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

>27413_27413_6_ERLEC1-ACYP2_ERLEC1_chr2_54040210_ENST00000405123_ACYP2_chr2_54278095_ENST00000607452_length(amino acids)=560AA_BP=0
MEEGGGGVRSLVPGGPVLLVLCGLLEASGGGRALPQLSDDIPFRVNWPGTEFSLPTTGVLYKEDNYVIMTTAHKEKYKCILPLVTSGDEE
EEKDYKGPNPRELLEPLFKQSSCSYRIESYWTYEVCHGKHIRQYHEEKETGQKINIHEYYLGNMLAKNLLFEKEREAEEKEKSNEIPTKN
IEGQMTPYYPVGMGNGTPCSLKQNRPRSSTVMYICHPESKHEILSVAEVTTCEYEVVILTPLLCSHPKYRFRASPVNDIFCQSLPGSPFK
PLTLRQLEQQEEILRVPFRRNKEEDLQSTKEERFPAIHKSIAIGSQPVLTVGTTHISKLTDDQLIKEFLSGSYCFRGGVGWWKYEFCYGK
HVHQYHEDKDSGKTSVVVGTWNQEEHIEWAKKNTARAYHLQDDGTQTVRYKVSLFYLGCSRTPNVKLSSCLGLPCCWDYSYKFIQLSEFG
FGQVIIVSEEPWKENISCSSTTFIKSTICLSVCFRMYTEDEARKIGVVGWVKNTSKGTVTGQVQGPEDKVNSMKSWLSKVGSPSSRIDRT

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

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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/chr2:54040210/chr2:54278095)
- 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
ERLEC1 Q96DZ1	ACYP2 P14621
FUNCTION: Probable lectin that binds selectively to improperly folded lumenal proteins. May function in endoplasmic reticulum quality control and endoplasmic reticulum-associated degradation (ERAD) of both non-glycosylated proteins and glycoproteins. {ECO:0000269\|PubMed:16531414, ECO:0000269\|PubMed:18264092, ECO:0000269\|PubMed:18502753}.	FUNCTION: Its physiological role is not yet clear.

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

ERLEC1

chr2:54028979

chr2:54531825

ENST00000185150

111_246

293.0

484.0

Domain

MRH 1

Hgene

ERLEC1

chr2:54028979

chr2:54531825

ENST00000378239

111_246

293.0

430.0

Domain

MRH 1

Hgene

ERLEC1

chr2:54028979

chr2:54531825

ENST00000405123

111_246

293.0

458.0

Domain

MRH 1

Hgene

ERLEC1

chr2:54040210

chr2:54278095

ENST00000185150

111_246

408.6666666666667

484.0

Domain

MRH 1

Hgene

ERLEC1

chr2:54040210

chr2:54278095

ENST00000378239

111_246

354.6666666666667

430.0

Domain

MRH 1

Hgene

ERLEC1

chr2:54040210

chr2:54278095

ENST00000405123

111_246

408.6666666666667

458.0

Domain

MRH 1

Tgene

ACYP2

chr2:54040210

chr2:54278095

ENST00000394666

9_99

100.0

Domain

Acylphosphatase-like

- 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

ERLEC1

chr2:54028979

chr2:54531825

ENST00000185150

342_469

293.0

484.0

Domain

MRH 2

Hgene

ERLEC1

chr2:54028979

chr2:54531825

ENST00000378239

342_469

293.0

430.0

Domain

MRH 2

Hgene

ERLEC1

chr2:54028979

chr2:54531825

ENST00000405123

342_469

293.0

458.0

Domain

MRH 2

Hgene

ERLEC1

chr2:54040210

chr2:54278095

ENST00000185150

342_469

408.6666666666667

484.0

Domain

MRH 2

Hgene

ERLEC1

chr2:54040210

chr2:54278095

ENST00000378239

342_469

354.6666666666667

430.0

Domain

MRH 2

Hgene

ERLEC1

chr2:54040210

chr2:54278095

ENST00000405123

342_469

408.6666666666667

458.0

Domain

MRH 2

Tgene

ACYP2

chr2:54028979

chr2:54531825

ENST00000394666

9_99

61.666666666666664

100.0

Domain

Acylphosphatase-like

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Fusion Protein Structures

PDB and CIF files of the predicted fusion proteins
* Here we show the 3D structure of the fusion proteins using Mol*. AlphaFold produces a per-residue confidence score (pLDDT) between 0 and 100. Model confidence is shown from the pLDDT values per residue. pLDDT corresponds to the model’s prediction of its score on the local Distance Difference Test. It is a measure of local accuracy (from AlphfaFold website). To color code individual residues, we transformed individual PDB files into CIF format.

Fusion protein PDB link (fusion AA seq ID in FusionPDB)	Hgene	Hchr	Hbp	Hstrand	Tgene	Tchr	Tbp	Tstrand	AA seq	Len(AA seq)
PDB file >>>1199_ERLEC1_54040210_ACYP2_54278095_1199_ERLEC1_54040210_ACYP2_54278095_ranked_0.pdb	ERLEC1	54028979	54040210	ENST00000607452	ACYP2	chr2	54278095	+	MEEGGGGVRSLVPGGPVLLVLCGLLEASGGGRALPQLSDDIPFRVNWPGTEFSLPTTGVLYKEDNYVIMTTAHKEKYKCILPLVTSGDEE EEKDYKGPNPRELLEPLFKQSSCSYRIESYWTYEVCHGKHIRQYHEEKETGQKINIHEYYLGNMLAKNLLFEKEREAEEKEKSNEIPTKN IEGQMTPYYPVGMGNGTPCSLKQNRPRSSTVMYICHPESKHEILSVAEVTTCEYEVVILTPLLCSHPKYRFRASPVNDIFCQSLPGSPFK PLTLRQLEQQEEILRVPFRRNKEEDLQSTKEERFPAIHKSIAIGSQPVLTVGTTHISKLTDDQLIKEFLSGSYCFRGGVGWWKYEFCYGK HVHQYHEDKDSGKTSVVVGTWNQEEHIEWAKKNTARAYHLQDDGTQTVRYKVSLFYLGCSRTPNVKLSSCLGLPCCWDYSYKFIQLSEFG FGQVIIVSEEPWKENISCSSTTFIKSTICLSVCFRMYTEDEARKIGVVGWVKNTSKGTVTGQVQGPEDKVNSMKSWLSKVGSPSSRIDRT	560

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pLDDT score distribution

pLDDT score distribution of the predicted wild-type structures of two partner proteins from AlphaFold2
* AlphaFold produces a per-residue confidence score (pLDDT) between 0 and 100.

ERLEC1_pLDDT.png

ACYP2_pLDDT.png

pLDDT score distribution of the predicted fusion protein structures from AlphaFold2
* AlphaFold produces a per-residue confidence score (pLDDT) between 0 and 100.

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Ramachandran Plot of Fusion Protein Structure

Ramachandran plot of the torsional angles - phi (φ)and psi (ψ) - of the residues (amino acids) contained in this fusion protein peptide.

Fusion AA seq ID in FusionPDB and their Ramachandran plots

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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
ERLEC1
ACYP2

- 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 ERLEC1-ACYP2

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 ERLEC1-ACYP2

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