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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:HNRNPA2B1-ETV1

Fusion Protein Summary

Fusion gene summary

Fusion partner gene information	Fusion gene name: HNRNPA2B1-ETV1
	FusionPDB ID: 37073
	FusionGDB2.0 ID: 37073
		Hgene	Tgene
	Gene symbol	HNRNPA2B1	ETV1
	Gene ID	3181	2115
	Gene name	heterogeneous nuclear ribonucleoprotein A2/B1	ETS variant transcription factor 1
	Synonyms	HNRNPA2\|HNRNPB1\|HNRPA2\|HNRPA2B1\|HNRPB1\|IBMPFD2\|RNPA2\|SNRPB1	ER81
	Cytomap	7p15.2	7p21.2
	Type of gene	protein-coding	protein-coding
	Description	heterogeneous nuclear ribonucleoproteins A2/B1HNRNPA2B1/MYC fusionepididymis secretory sperm binding proteinhnRNP A2 / hnRNP B1nuclear ribonucleoprotein particle A2 protein	ETS translocation variant 1ETS variant 1ets variant gene 1ets-related protein 81
	Modification date	20200314	20200313
	UniProtAcc	P22626	P50549
Ensembl transtripts involved in fusion gene	ENST ids	ENST00000354667, ENST00000356674, ENST00000476233,	ENST00000242066, ENST00000343495, ENST00000399357, ENST00000403527, ENST00000403685, ENST00000405192, ENST00000405218, ENST00000405358, ENST00000420159, ENST00000430479, ENST00000476720,
Fusion gene scores for assessment (based on all fusion genes of FusionGDB 2.0)	* DoF score	43 X 37 X 14=22274	13 X 27 X 6=2106
	# samples	50	30
	** MAII score	log2(50/22274*10)=-5.47728875772656 possibly effective Gene in Pan-Cancer Fusion Genes (peGinPCFGs). DoF>8 and MAII<0	log2(30/2106*10)=-2.81147103052984 possibly effective Gene in Pan-Cancer Fusion Genes (peGinPCFGs). DoF>8 and MAII<0
Context (manual curation of fusion genes in FusionPDB)	PubMed: HNRNPA2B1 [Title/Abstract] AND ETV1 [Title/Abstract] AND fusion [Title/Abstract]
Most frequent breakpoint (based on all fusion genes of FusionGDB 2.0)	HNRNPA2B1(26240192)-ETV1(14027800), # samples:6
Anticipated loss of major functional domain due to fusion event.	HNRNPA2B1-ETV1 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. HNRNPA2B1-ETV1 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. HNRNPA2B1-ETV1 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. HNRNPA2B1-ETV1 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	HNRNPA2B1	GO:0006397	mRNA processing	2557628
Hgene	HNRNPA2B1	GO:0006406	mRNA export from nucleus	10567417
Hgene	HNRNPA2B1	GO:0031053	primary miRNA processing	26321680
Hgene	HNRNPA2B1	GO:0050658	RNA transport	17004321
Hgene	HNRNPA2B1	GO:1990428	miRNA transport	24356509
Tgene	ETV1	GO:0045944	positive regulation of transcription by RNA polymerase II	12750007

Fusion gene breakpoints across HNRNPA2B1 (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 ETV1 (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	adenocarcinoma	EF632110	HNRNPA2B1	chr7	26240366		ETV1	chr7	13978820
ChimerKB3	.	.	HNRNPA2B1	chr7	26206891	-	ETV1	chr7	13945344	-
ChimerKB3	.	.	HNRNPA2B1	chr7	26240191	-	ETV1	chr7	14029642	-
ChimerKB3	.	.	HNRNPA2B1	chr7	26240366	-	ETV1	chr7	13978820	-
ChiTaRS5.0	N/A	EF632110	HNRNPA2B1	chr7	26240192	-	ETV1	chr7	14027800	-
ChiTaRS5.0	N/A	FW581621	HNRNPA2B1	chr7	26240192	-	ETV1	chr7	14027800	-
ChiTaRS5.0	N/A	HZ416115	HNRNPA2B1	chr7	26240192	-	ETV1	chr7	14027800	-
ChiTaRS5.0	N/A	JB772362	HNRNPA2B1	chr7	26240192	-	ETV1	chr7	14027800	-
ChiTaRS5.0	N/A	LV708919	HNRNPA2B1	chr7	26240192	-	ETV1	chr7	14027800	-
ChiTaRS5.0	N/A	MA648833	HNRNPA2B1	chr7	26240192	-	ETV1	chr7	14027800	-

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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)
ENST00000354667	HNRNPA2B1	chr7	26240192	-	ENST00000430479	ETV1	chr7	14027800	-	6202	175	169	1563	464
ENST00000356674	HNRNPA2B1	chr7	26240192	-	ENST00000430479	ETV1	chr7	14027800	-	6202	175	169	1563	464

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
ENST00000354667	ENST00000430479	HNRNPA2B1	chr7	26240192	-	ETV1	chr7	14027800	-	0.000398277	0.9996018
ENST00000356674	ENST00000430479	HNRNPA2B1	chr7	26240192	-	ETV1	chr7	14027800	-	0.000398277	0.9996018

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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

>37073_37073_1_HNRNPA2B1-ETV1_HNRNPA2B1_chr7_26240192_ENST00000354667_ETV1_chr7_14027800_ENST00000430479_length(amino acids)=464AA_BP=2
MESQRGRNCNEKPTNVRKRKFINRDLAHDSEELFQDLSQLQETWLAEAQVPDNDEQFVPDYQAESLAFHGLPLKIKKEPHSPCSEISSAC
SQEQPFKFSYGEKCLYNVSAYDQKPQVGMRPSNPPTPSSTPVSPLHHASPNSTHTPKPDRAFPAHLPPSQSIPDSSYPMDHRFRRQLSEP
CNSFPPLPTMPREGRPMYQRQMSEPNIPFPPQGFKQEYHDPVYEHNTMVGSAASQSFPPPLMIKQEPRDFAYDSEVPSCHSIYMRQEGFL
AHPSRTEGCMFEKGPRQFYDDTCVVPEKFDGDIKQEPGMYREGPTYQRRGSLQLWQFLVALLDDPSNSHFIAWTGRGMEFKLIEPEEVAR
RWGIQKNRPAMNYDKLSRSLRYYYEKGIMQKVAGERYVYKFVCDPEALFSMAFPDNQRPLLKTDMERHINEEDTVPLSHFDESMAYMPEG

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

>37073_37073_2_HNRNPA2B1-ETV1_HNRNPA2B1_chr7_26240192_ENST00000356674_ETV1_chr7_14027800_ENST00000430479_length(amino acids)=464AA_BP=2
MESQRGRNCNEKPTNVRKRKFINRDLAHDSEELFQDLSQLQETWLAEAQVPDNDEQFVPDYQAESLAFHGLPLKIKKEPHSPCSEISSAC
SQEQPFKFSYGEKCLYNVSAYDQKPQVGMRPSNPPTPSSTPVSPLHHASPNSTHTPKPDRAFPAHLPPSQSIPDSSYPMDHRFRRQLSEP
CNSFPPLPTMPREGRPMYQRQMSEPNIPFPPQGFKQEYHDPVYEHNTMVGSAASQSFPPPLMIKQEPRDFAYDSEVPSCHSIYMRQEGFL
AHPSRTEGCMFEKGPRQFYDDTCVVPEKFDGDIKQEPGMYREGPTYQRRGSLQLWQFLVALLDDPSNSHFIAWTGRGMEFKLIEPEEVAR
RWGIQKNRPAMNYDKLSRSLRYYYEKGIMQKVAGERYVYKFVCDPEALFSMAFPDNQRPLLKTDMERHINEEDTVPLSHFDESMAYMPEG

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

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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/chr7:26240192/chr7:14027800)
- 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
HNRNPA2B1 P22626	ETV1 P50549
FUNCTION: Heterogeneous nuclear ribonucleoprotein (hnRNP) that associates with nascent pre-mRNAs, packaging them into hnRNP particles. The hnRNP particle arrangement on nascent hnRNA is non-random and sequence-dependent and serves to condense and stabilize the transcripts and minimize tangling and knotting. Packaging plays a role in various processes such as transcription, pre-mRNA processing, RNA nuclear export, subcellular location, mRNA translation and stability of mature mRNAs (PubMed:19099192). Forms hnRNP particles with at least 20 other different hnRNP and heterogeneous nuclear RNA in the nucleus. Involved in transport of specific mRNAs to the cytoplasm in oligodendrocytes and neurons: acts by specifically recognizing and binding the A2RE (21 nucleotide hnRNP A2 response element) or the A2RE11 (derivative 11 nucleotide oligonucleotide) sequence motifs present on some mRNAs, and promotes their transport to the cytoplasm (PubMed:10567417). Specifically binds single-stranded telomeric DNA sequences, protecting telomeric DNA repeat against endonuclease digestion (By similarity). Also binds other RNA molecules, such as primary miRNA (pri-miRNAs): acts as a nuclear 'reader' of the N6-methyladenosine (m6A) mark by specifically recognizing and binding a subset of nuclear m6A-containing pri-miRNAs. Binding to m6A-containing pri-miRNAs promotes pri-miRNA processing by enhancing binding of DGCR8 to pri-miRNA transcripts (PubMed:26321680). Involved in miRNA sorting into exosomes following sumoylation, possibly by binding (m6A)-containing pre-miRNAs (PubMed:24356509). Acts as a regulator of efficiency of mRNA splicing, possibly by binding to m6A-containing pre-mRNAs (PubMed:26321680). Plays also a role in the activation of the innate immune response (PubMed:31320558). Mechanistically, senses the presence of viral DNA in the nucleus, homodimerizes and is demethylated by JMJD6 (PubMed:31320558). In turn, translocates to the cytoplasm where it activates the TBK1-IRF3 pathway, leading to interferon alpha/beta production (PubMed:31320558). {ECO:0000250\|UniProtKB:A7VJC2, ECO:0000269\|PubMed:10567417, ECO:0000269\|PubMed:24356509, ECO:0000269\|PubMed:26321680, ECO:0000303\|PubMed:19099192}.; FUNCTION: (Microbial infection) Involved in the transport of HIV-1 genomic RNA out of the nucleus, to the microtubule organizing center (MTOC), and then from the MTOC to the cytoplasm: acts by specifically recognizing and binding the A2RE (21 nucleotide hnRNP A2 response element) sequence motifs present on HIV-1 genomic RNA, and promotes its transport. {ECO:0000269\|PubMed:15294897, ECO:0000269\|PubMed:17004321}.	FUNCTION: Transcriptional activator that binds to DNA sequences containing the consensus pentanucleotide 5'-CGGA[AT]-3' (PubMed:7651741). Required for olfactory dopaminergic neuron differentiation; may directly activate expression of tyrosine hydroxylase (TH) (By similarity). {ECO:0000250\|UniProtKB:P41164, ECO:0000269\|PubMed:7651741}.

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

ETV1

chr7:26240192

chr7:14027800

ENST00000242066

335_415

15.0

460.0

DNA binding

ETS

Tgene

ETV1

chr7:26240192

chr7:14027800

ENST00000343495

335_415

15.0

460.0

DNA binding

ETS

Tgene

ETV1

chr7:26240192

chr7:14027800

ENST00000399357

335_415

375.0

DNA binding

ETS

Tgene

ETV1

chr7:26240192

chr7:14027800

ENST00000403527

335_415

438.0

DNA binding

ETS

Tgene

ETV1

chr7:26240192

chr7:14027800

ENST00000403685

335_415

15.0

460.0

DNA binding

ETS

Tgene

ETV1

chr7:26240192

chr7:14027800

ENST00000405192

335_415

15.0

455.0

DNA binding

ETS

Tgene

ETV1

chr7:26240192

chr7:14027800

ENST00000405218

335_415

15.0

478.0

DNA binding

ETS

Tgene

ETV1

chr7:26240192

chr7:14027800

ENST00000420159

335_415

420.0

DNA binding

ETS

Tgene

ETV1

chr7:26240192

chr7:14027800

ENST00000430479

335_415

15.0

478.0

DNA binding

ETS

- 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

HNRNPA2B1

chr7:26240192

chr7:14027800

ENST00000354667

202_353

2.0

1115.3333333333333

Compositional bias

Note=Gly-rich

Hgene

HNRNPA2B1

chr7:26240192

chr7:14027800

ENST00000356674

202_353

2.0

439.3333333333333

Compositional bias

Note=Gly-rich

Hgene

HNRNPA2B1

chr7:26240192

chr7:14027800

ENST00000354667

112_191

2.0

1115.3333333333333

Domain

RRM 2

Hgene

HNRNPA2B1

chr7:26240192

chr7:14027800

ENST00000354667

21_104

2.0

1115.3333333333333

Domain

RRM 1

Hgene

HNRNPA2B1

chr7:26240192

chr7:14027800

ENST00000356674

112_191

2.0

439.3333333333333

Domain

RRM 2

Hgene

HNRNPA2B1

chr7:26240192

chr7:14027800

ENST00000356674

21_104

2.0

439.3333333333333

Domain

RRM 1

Hgene

HNRNPA2B1

chr7:26240192

chr7:14027800

ENST00000354667

9_15

2.0

1115.3333333333333

Motif

Nuclear localization signal

Hgene

HNRNPA2B1

chr7:26240192

chr7:14027800

ENST00000356674

9_15

2.0

439.3333333333333

Motif

Nuclear localization signal

Hgene

HNRNPA2B1

chr7:26240192

chr7:14027800

ENST00000354667

193_353

2.0

1115.3333333333333

Region

Low complexity (LC) region

Hgene

HNRNPA2B1

chr7:26240192

chr7:14027800

ENST00000354667

308_347

2.0

1115.3333333333333

Region

Nuclear targeting sequence

Hgene

HNRNPA2B1

chr7:26240192

chr7:14027800

ENST00000356674

193_353

2.0

439.3333333333333

Region

Low complexity (LC) region

Hgene

HNRNPA2B1

chr7:26240192

chr7:14027800

ENST00000356674

308_347

2.0

439.3333333333333

Region

Nuclear targeting sequence

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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 >>>974_HNRNPA2B1_26240192_ETV1_14027800_974_HNRNPA2B1_26240192_ETV1_14027800_ranked_0.pdb	HNRNPA2B1	26240192	26240192	ENST00000430479	ETV1	chr7	14027800	-	MESQRGRNCNEKPTNVRKRKFINRDLAHDSEELFQDLSQLQETWLAEAQVPDNDEQFVPDYQAESLAFHGLPLKIKKEPHSPCSEISSAC SQEQPFKFSYGEKCLYNVSAYDQKPQVGMRPSNPPTPSSTPVSPLHHASPNSTHTPKPDRAFPAHLPPSQSIPDSSYPMDHRFRRQLSEP CNSFPPLPTMPREGRPMYQRQMSEPNIPFPPQGFKQEYHDPVYEHNTMVGSAASQSFPPPLMIKQEPRDFAYDSEVPSCHSIYMRQEGFL AHPSRTEGCMFEKGPRQFYDDTCVVPEKFDGDIKQEPGMYREGPTYQRRGSLQLWQFLVALLDDPSNSHFIAWTGRGMEFKLIEPEEVAR RWGIQKNRPAMNYDKLSRSLRYYYEKGIMQKVAGERYVYKFVCDPEALFSMAFPDNQRPLLKTDMERHINEEDTVPLSHFDESMAYMPEG	464

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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.

HNRNPA2B1_pLDDT.png

ETV1_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
HNRNPA2B1
ETV1

- 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 HNRNPA2B1-ETV1

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 HNRNPA2B1-ETV1

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
Tgene	ETV1	C0033578	Prostatic Neoplasms	3	CTD_human
Tgene	ETV1	C0376358	Malignant neoplasm of prostate	3	CTD_human
Tgene	ETV1	C0009402	Colorectal Carcinoma	1	CTD_human
Tgene	ETV1	C0009404	Colorectal Neoplasms	1	CTD_human