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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:ERP44-CHRDL2

Fusion Protein Summary

Fusion gene summary

Fusion partner gene information	Fusion gene name: ERP44-CHRDL2
	FusionPDB ID: 27480
	FusionGDB2.0 ID: 27480
		Hgene	Tgene
	Gene symbol	ERP44	CHRDL2
	Gene ID	23071	25884
	Gene name	endoplasmic reticulum protein 44	chordin like 2
	Synonyms	PDIA10\|TXNDC4	BNF1\|CHL2
	Cytomap	9q31.1	11q13.4
	Type of gene	protein-coding	protein-coding
	Description	endoplasmic reticulum resident protein 44ER protein 44endoplasmic reticulum resident protein 44 kDaepididymis secretory sperm binding proteinprotein disulfide isomerase family A, member 10thioredoxin domain containing 4 (endoplasmic reticulum)thiore	chordin-like protein 2breast tumor novel factor 1chordin-related protein 2
	Modification date	20200313	20200313
	UniProtAcc	Q9BS26	Q6WN34
Ensembl transtripts involved in fusion gene	ENST ids	ENST00000262455,	ENST00000534159, ENST00000263671, ENST00000376332,
Fusion gene scores for assessment (based on all fusion genes of FusionGDB 2.0)	* DoF score	6 X 5 X 3=90	3 X 2 X 5=30
	# samples	7	6
	** MAII score	log2(7/90*10)=-0.362570079384708 possibly effective Gene in Pan-Cancer Fusion Genes (peGinPCFGs). DoF>8 and MAII<0	log2(6/30*10)=1 effective Gene in Pan-Cancer Fusion Genes (eGinPCFGs). DoF>8 and MAII>0
Context (manual curation of fusion genes in FusionPDB)	PubMed: ERP44 [Title/Abstract] AND CHRDL2 [Title/Abstract] AND fusion [Title/Abstract]
Most frequent breakpoint (based on all fusion genes of FusionGDB 2.0)	ERP44(102814699)-CHRDL2(74429877), # samples:3
Anticipated loss of major functional domain due to fusion event.	ERP44-CHRDL2 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. ERP44-CHRDL2 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. ERP44-CHRDL2 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. ERP44-CHRDL2 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	ERP44	GO:0006457	protein folding	11847130
Hgene	ERP44	GO:0006986	response to unfolded protein	11847130
Hgene	ERP44	GO:0009100	glycoprotein metabolic process	11847130
Hgene	ERP44	GO:0034976	response to endoplasmic reticulum stress	11847130

Fusion gene breakpoints across ERP44 (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 CHRDL2 (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	HNSC	TCGA-DQ-5624-01A	ERP44	chr9	102814699	-	CHRDL2	chr11	74429877	-
ChimerDB4	HNSC	TCGA-DQ-5624	ERP44	chr9	102814698	-	CHRDL2	chr11	74429877	-
ChimerDB4	HNSC	TCGA-DQ-5624	ERP44	chr9	102814699	-	CHRDL2	chr11	74429877	-

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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)
ENST00000262455	ERP44	chr9	102814699	-	ENST00000263671	CHRDL2	chr11	74429877	-	1829	486	50	1759	569
ENST00000262455	ERP44	chr9	102814699	-	ENST00000376332	CHRDL2	chr11	74429877	-	1774	486	50	1693	547
ENST00000262455	ERP44	chr9	102814698	-	ENST00000263671	CHRDL2	chr11	74429877	-	1829	486	50	1759	569
ENST00000262455	ERP44	chr9	102814698	-	ENST00000376332	CHRDL2	chr11	74429877	-	1774	486	50	1693	547

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
ENST00000262455	ENST00000263671	ERP44	chr9	102814699	-	CHRDL2	chr11	74429877	-	0.012421393	0.9875786
ENST00000262455	ENST00000376332	ERP44	chr9	102814699	-	CHRDL2	chr11	74429877	-	0.006579934	0.99342006
ENST00000262455	ENST00000263671	ERP44	chr9	102814698	-	CHRDL2	chr11	74429877	-	0.012421393	0.9875786
ENST00000262455	ENST00000376332	ERP44	chr9	102814698	-	CHRDL2	chr11	74429877	-	0.006579934	0.99342006

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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

>27480_27480_1_ERP44-CHRDL2_ERP44_chr9_102814698_ENST00000262455_CHRDL2_chr11_74429877_ENST00000263671_length(amino acids)=569AA_BP=146
MEPGSRGRGAAAWRILRCRRLPEPSPFLTQPNLAQSQPPAPVPVTDPSVTMHPAVFLSLPDLRCSLLLLVTWVFTPVTTEITSLDTENID
EILNNADVALVNFYADWCRFSQMLHPIFEEASDVIKEEFPNENQVVFARVDCDQHCPDMFCLFHGKRYSPGESWHPYLEPQGLMYCLRCT
CSEGAHVSCYRLHCPPVHCPQPVTEPQQCCPKCVEPHTPSGLRAPPKSCQHNGTMYQHGEIFSAHELFPSRLPNQCVLCSCTEGQIYCGL
TTCPEPGCPAPLPLPDSCCQACKDEASEQSDEEDSVQSLHGVRHPQDPCSSDAGRKRGPGTPAPTGLSAPLSFIPRHFRPKGAGSTTVKI
VLKEKHKKACVHGGKTYSHGEVWHPAFRAFGPLPCILCTCEDGRQDCQRVTCPTEYPCRHPEKVAGKCCKICPEDKADPGHSEISSTRCP
KAPGRVLVHTSVSPSPDNLRRFALEHEASDLVEIYLWKLVKDEETEAQRGEVPGPRPHSQNLPLDSDQESQEARLPERGTALPTARWPPR

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

>27480_27480_2_ERP44-CHRDL2_ERP44_chr9_102814698_ENST00000262455_CHRDL2_chr11_74429877_ENST00000376332_length(amino acids)=547AA_BP=146
MEPGSRGRGAAAWRILRCRRLPEPSPFLTQPNLAQSQPPAPVPVTDPSVTMHPAVFLSLPDLRCSLLLLVTWVFTPVTTEITSLDTENID
EILNNADVALVNFYADWCRFSQMLHPIFEEASDVIKEEFPNENQVVFARVDCDQHCPDMFCLFHGKRYSPGESWHPYLEPQGLMYCLRCT
CSEGAHVSCYRLHCPPVHCPQPVTEPQQCCPKCVEPHTPSGLRAPPKSCQHNGTMYQHGEIFSAHELFPSRLPNQCVLCSCTEGQIYCGL
TTCPEPGCPAPLPLPDSCCQACKDEASEQSDEEDSVQSLHGVRHPQDPCSSDAGRKRGPGTPAPTGLSAPLSFIPRHFRPKGAGSTTVKI
VLKEKHKKACVHGGKTYSHGEVWHPAFRAFGPLPCILCTCEDGRQDCQRVTCPTEYPCRHPEKVAGKCCKICPEDKADPGHSEISSTRCP
KAPGRVLVHTSVSPSPDNLRRFALEHEASDLVEIYLWKLVKGIFHLTQIKKVRKQDFQKEAQHFRLLAGPHEGHWNVFLAQTLELKVTAS

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

>27480_27480_3_ERP44-CHRDL2_ERP44_chr9_102814699_ENST00000262455_CHRDL2_chr11_74429877_ENST00000263671_length(amino acids)=569AA_BP=146
MEPGSRGRGAAAWRILRCRRLPEPSPFLTQPNLAQSQPPAPVPVTDPSVTMHPAVFLSLPDLRCSLLLLVTWVFTPVTTEITSLDTENID
EILNNADVALVNFYADWCRFSQMLHPIFEEASDVIKEEFPNENQVVFARVDCDQHCPDMFCLFHGKRYSPGESWHPYLEPQGLMYCLRCT
CSEGAHVSCYRLHCPPVHCPQPVTEPQQCCPKCVEPHTPSGLRAPPKSCQHNGTMYQHGEIFSAHELFPSRLPNQCVLCSCTEGQIYCGL
TTCPEPGCPAPLPLPDSCCQACKDEASEQSDEEDSVQSLHGVRHPQDPCSSDAGRKRGPGTPAPTGLSAPLSFIPRHFRPKGAGSTTVKI
VLKEKHKKACVHGGKTYSHGEVWHPAFRAFGPLPCILCTCEDGRQDCQRVTCPTEYPCRHPEKVAGKCCKICPEDKADPGHSEISSTRCP
KAPGRVLVHTSVSPSPDNLRRFALEHEASDLVEIYLWKLVKDEETEAQRGEVPGPRPHSQNLPLDSDQESQEARLPERGTALPTARWPPR

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

>27480_27480_4_ERP44-CHRDL2_ERP44_chr9_102814699_ENST00000262455_CHRDL2_chr11_74429877_ENST00000376332_length(amino acids)=547AA_BP=146
MEPGSRGRGAAAWRILRCRRLPEPSPFLTQPNLAQSQPPAPVPVTDPSVTMHPAVFLSLPDLRCSLLLLVTWVFTPVTTEITSLDTENID
EILNNADVALVNFYADWCRFSQMLHPIFEEASDVIKEEFPNENQVVFARVDCDQHCPDMFCLFHGKRYSPGESWHPYLEPQGLMYCLRCT
CSEGAHVSCYRLHCPPVHCPQPVTEPQQCCPKCVEPHTPSGLRAPPKSCQHNGTMYQHGEIFSAHELFPSRLPNQCVLCSCTEGQIYCGL
TTCPEPGCPAPLPLPDSCCQACKDEASEQSDEEDSVQSLHGVRHPQDPCSSDAGRKRGPGTPAPTGLSAPLSFIPRHFRPKGAGSTTVKI
VLKEKHKKACVHGGKTYSHGEVWHPAFRAFGPLPCILCTCEDGRQDCQRVTCPTEYPCRHPEKVAGKCCKICPEDKADPGHSEISSTRCP
KAPGRVLVHTSVSPSPDNLRRFALEHEASDLVEIYLWKLVKGIFHLTQIKKVRKQDFQKEAQHFRLLAGPHEGHWNVFLAQTLELKVTAS

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

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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/chr9:102814699/chr11:74429877)
- 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
ERP44 Q9BS26	CHRDL2 Q6WN34
FUNCTION: Mediates thiol-dependent retention in the early secretory pathway, forming mixed disulfides with substrate proteins through its conserved CRFS motif. Inhibits the calcium channel activity of ITPR1. May have a role in the control of oxidative protein folding in the endoplasmic reticulum. Required to retain ERO1A and ERO1B in the endoplasmic reticulum. {ECO:0000269\|PubMed:11847130, ECO:0000269\|PubMed:14517240}.	FUNCTION: May inhibit BMPs activity by blocking their interaction with their receptors. Has a negative regulator effect on the cartilage formation/regeneration from immature mesenchymal cells, by preventing or reducing the rate of matrix accumulation (By similarity). Implicated in tumor angiogenesis. May play a role during myoblast and osteoblast differentiation, and maturation. {ECO:0000250, ECO:0000269\|PubMed:12853144, ECO:0000269\|PubMed:15094188}.

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

Tgene

CHRDL2

chr9:102814698

chr11:74429877

ENST00000263671

109_175

27.333333333333332

452.0

Domain

VWFC 2

Tgene

CHRDL2

chr9:102814698

chr11:74429877

ENST00000263671

250_315

27.333333333333332

452.0

Domain

VWFC 3

Tgene

CHRDL2

chr9:102814698

chr11:74429877

ENST00000263671

31_96

27.333333333333332

452.0

Domain

VWFC 1

Tgene

CHRDL2

chr9:102814698

chr11:74429877

ENST00000376332

109_175

27.333333333333332

430.0

Domain

VWFC 2

Tgene

CHRDL2

chr9:102814698

chr11:74429877

ENST00000376332

250_315

27.333333333333332

430.0

Domain

VWFC 3

Tgene

CHRDL2

chr9:102814698

chr11:74429877

ENST00000376332

31_96

27.333333333333332

430.0

Domain

VWFC 1

Tgene

CHRDL2

chr9:102814699

chr11:74429877

ENST00000263671

109_175

27.333333333333332

452.0

Domain

VWFC 2

Tgene

CHRDL2

chr9:102814699

chr11:74429877

ENST00000263671

250_315

27.333333333333332

452.0

Domain

VWFC 3

Tgene

CHRDL2

chr9:102814699

chr11:74429877

ENST00000263671

31_96

27.333333333333332

452.0

Domain

VWFC 1

Tgene

CHRDL2

chr9:102814699

chr11:74429877

ENST00000376332

109_175

27.333333333333332

430.0

Domain

VWFC 2

Tgene

CHRDL2

chr9:102814699

chr11:74429877

ENST00000376332

250_315

27.333333333333332

430.0

Domain

VWFC 3

Tgene

CHRDL2

chr9:102814699

chr11:74429877

ENST00000376332

31_96

27.333333333333332

430.0

Domain

VWFC 1

- 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

ERP44

chr9:102814698

chr11:74429877

ENST00000262455

30_138

95.33333333333333

407.0

Domain

Thioredoxin

Hgene

ERP44

chr9:102814699

chr11:74429877

ENST00000262455

30_138

95.33333333333333

407.0

Domain

Thioredoxin

Hgene

ERP44

chr9:102814698

chr11:74429877

ENST00000262455

403_406

95.33333333333333

407.0

Motif

Prevents secretion from ER

Hgene

ERP44

chr9:102814699

chr11:74429877

ENST00000262455

403_406

95.33333333333333

407.0

Motif

Prevents secretion from ER

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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 >>>1216_ERP44_102814699_CHRDL2_74429877_1216_ERP44_102814699_CHRDL2_74429877_ranked_0.pdb	ERP44	102814698	102814699	ENST00000376332	CHRDL2	chr11	74429877	-	MEPGSRGRGAAAWRILRCRRLPEPSPFLTQPNLAQSQPPAPVPVTDPSVTMHPAVFLSLPDLRCSLLLLVTWVFTPVTTEITSLDTENID EILNNADVALVNFYADWCRFSQMLHPIFEEASDVIKEEFPNENQVVFARVDCDQHCPDMFCLFHGKRYSPGESWHPYLEPQGLMYCLRCT CSEGAHVSCYRLHCPPVHCPQPVTEPQQCCPKCVEPHTPSGLRAPPKSCQHNGTMYQHGEIFSAHELFPSRLPNQCVLCSCTEGQIYCGL TTCPEPGCPAPLPLPDSCCQACKDEASEQSDEEDSVQSLHGVRHPQDPCSSDAGRKRGPGTPAPTGLSAPLSFIPRHFRPKGAGSTTVKI VLKEKHKKACVHGGKTYSHGEVWHPAFRAFGPLPCILCTCEDGRQDCQRVTCPTEYPCRHPEKVAGKCCKICPEDKADPGHSEISSTRCP KAPGRVLVHTSVSPSPDNLRRFALEHEASDLVEIYLWKLVKDEETEAQRGEVPGPRPHSQNLPLDSDQESQEARLPERGTALPTARWPPR	569

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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.

ERP44_pLDDT.png

CHRDL2_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
ERP44
CHRDL2

- 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
Hgene	ERP44	chr9:102814698	chr11:74429877	ENST00000262455	-	4	12	236_285	95.33333333333333	407.0	ITPR1
Hgene	ERP44	chr9:102814699	chr11:74429877	ENST00000262455	-	4	12	236_285	95.33333333333333	407.0	ITPR1

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Related Drugs to ERP44-CHRDL2

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 ERP44-CHRDL2

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