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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:MYO1D-ASIC2

Fusion Protein Summary

Fusion gene summary

Fusion partner gene information	Fusion gene name: MYO1D-ASIC2
	FusionPDB ID: 56644
	FusionGDB2.0 ID: 56644
		Hgene	Tgene
	Gene symbol	MYO1D	ASIC2
	Gene ID	4642	40
	Gene name	myosin ID	acid sensing ion channel subunit 2
	Synonyms	PPP1R108\|myr4	ACCN\|ACCN1\|ASIC2a\|BNC1\|BNaC1\|MDEG\|hBNaC1
	Cytomap	17q11.2	17q11.2-q12
	Type of gene	protein-coding	protein-coding
	Description	unconventional myosin-Idmyosin-I gammaprotein phosphatase 1, regulatory subunit 108	acid-sensing ion channel 2acid sensing (proton gated) ion channel 2amiloride-sensitive cation channel 1, neuronalbrain sodium channel 1mammalian degenerin homologneuronal amiloride-sensitive cation channel 1
	Modification date	20200313	20200313
	UniProtAcc	O94832	Q16515
Ensembl transtripts involved in fusion gene	ENST ids	ENST00000318217, ENST00000579584, ENST00000583621, ENST00000394649, ENST00000584232,	ENST00000448983, ENST00000225823, ENST00000359872,
Fusion gene scores for assessment (based on all fusion genes of FusionGDB 2.0)	* DoF score	24 X 17 X 12=4896	18 X 14 X 7=1764
	# samples	28	19
	** MAII score	log2(28/4896*10)=-4.12810482574769 possibly effective Gene in Pan-Cancer Fusion Genes (peGinPCFGs). DoF>8 and MAII<0	log2(19/1764*10)=-3.21477923722657 possibly effective Gene in Pan-Cancer Fusion Genes (peGinPCFGs). DoF>8 and MAII<0
Context (manual curation of fusion genes in FusionPDB)	PubMed: MYO1D [Title/Abstract] AND ASIC2 [Title/Abstract] AND fusion [Title/Abstract]
Most frequent breakpoint (based on all fusion genes of FusionGDB 2.0)	MYO1D(31203796)-ASIC2(31355410), # samples:2
Anticipated loss of major functional domain due to fusion event.	MYO1D-ASIC2 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. MYO1D-ASIC2 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	MYO1D	GO:0010923	negative regulation of phosphatase activity	19389623

Fusion gene breakpoints across MYO1D (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 ASIC2 (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-78-7155-01A	MYO1D	chr17	31203796	-	ASIC2	chr17	31355410	-
ChimerDB4	SARC	TCGA-PC-A5DL-01A	MYO1D	chr17	31203796	-	ASIC2	chr17	31355410	-

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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)
ENST00000318217	MYO1D	chr17	31203796	-	ENST00000225823	ASIC2	chr17	31355410	-	1983	400	409	1104	231
ENST00000318217	MYO1D	chr17	31203796	-	ENST00000359872	ASIC2	chr17	31355410	-	1983	400	409	1104	231
ENST00000579584	MYO1D	chr17	31203796	-	ENST00000225823	ASIC2	chr17	31355410	-	1950	367	376	1071	231
ENST00000579584	MYO1D	chr17	31203796	-	ENST00000359872	ASIC2	chr17	31355410	-	1950	367	376	1071	231
ENST00000583621	MYO1D	chr17	31203796	-	ENST00000225823	ASIC2	chr17	31355410	-	1983	400	409	1104	231
ENST00000583621	MYO1D	chr17	31203796	-	ENST00000359872	ASIC2	chr17	31355410	-	1983	400	409	1104	231

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
ENST00000318217	ENST00000225823	MYO1D	chr17	31203796	-	ASIC2	chr17	31355410	-	0.005285414	0.99471456
ENST00000318217	ENST00000359872	MYO1D	chr17	31203796	-	ASIC2	chr17	31355410	-	0.005285414	0.99471456
ENST00000579584	ENST00000225823	MYO1D	chr17	31203796	-	ASIC2	chr17	31355410	-	0.005935099	0.994065
ENST00000579584	ENST00000359872	MYO1D	chr17	31203796	-	ASIC2	chr17	31355410	-	0.005935099	0.994065
ENST00000583621	ENST00000225823	MYO1D	chr17	31203796	-	ASIC2	chr17	31355410	-	0.005285414	0.99471456
ENST00000583621	ENST00000359872	MYO1D	chr17	31203796	-	ASIC2	chr17	31355410	-	0.005285414	0.99471456

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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

>56644_56644_1_MYO1D-ASIC2_MYO1D_chr17_31203796_ENST00000318217_ASIC2_chr17_31355410_ENST00000225823_length(amino acids)=231AA_BP=
MPPPWGECRSSEMGLDFFPVYSITACRIDCETRYIVENCNCRMVHMPGDAPFCTPEQHKECAEPALGLLAEKDSNYCLCRTPCNLTRYNK
ELSMVKIPSKTSAKYLEKKFNKSEKYISENILVLDIFFEALNYETIEQKKAYEVAALLGDIGGQMGLFIGASILTILELFDYIYELIKEK

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

>56644_56644_2_MYO1D-ASIC2_MYO1D_chr17_31203796_ENST00000318217_ASIC2_chr17_31355410_ENST00000359872_length(amino acids)=231AA_BP=
MPPPWGECRSSEMGLDFFPVYSITACRIDCETRYIVENCNCRMVHMPGDAPFCTPEQHKECAEPALGLLAEKDSNYCLCRTPCNLTRYNK
ELSMVKIPSKTSAKYLEKKFNKSEKYISENILVLDIFFEALNYETIEQKKAYEVAALLGDIGGQMGLFIGASILTILELFDYIYELIKEK

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

>56644_56644_3_MYO1D-ASIC2_MYO1D_chr17_31203796_ENST00000579584_ASIC2_chr17_31355410_ENST00000225823_length(amino acids)=231AA_BP=
MPPPWGECRSSEMGLDFFPVYSITACRIDCETRYIVENCNCRMVHMPGDAPFCTPEQHKECAEPALGLLAEKDSNYCLCRTPCNLTRYNK
ELSMVKIPSKTSAKYLEKKFNKSEKYISENILVLDIFFEALNYETIEQKKAYEVAALLGDIGGQMGLFIGASILTILELFDYIYELIKEK

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

>56644_56644_4_MYO1D-ASIC2_MYO1D_chr17_31203796_ENST00000579584_ASIC2_chr17_31355410_ENST00000359872_length(amino acids)=231AA_BP=
MPPPWGECRSSEMGLDFFPVYSITACRIDCETRYIVENCNCRMVHMPGDAPFCTPEQHKECAEPALGLLAEKDSNYCLCRTPCNLTRYNK
ELSMVKIPSKTSAKYLEKKFNKSEKYISENILVLDIFFEALNYETIEQKKAYEVAALLGDIGGQMGLFIGASILTILELFDYIYELIKEK

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

>56644_56644_5_MYO1D-ASIC2_MYO1D_chr17_31203796_ENST00000583621_ASIC2_chr17_31355410_ENST00000225823_length(amino acids)=231AA_BP=
MPPPWGECRSSEMGLDFFPVYSITACRIDCETRYIVENCNCRMVHMPGDAPFCTPEQHKECAEPALGLLAEKDSNYCLCRTPCNLTRYNK
ELSMVKIPSKTSAKYLEKKFNKSEKYISENILVLDIFFEALNYETIEQKKAYEVAALLGDIGGQMGLFIGASILTILELFDYIYELIKEK

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

>56644_56644_6_MYO1D-ASIC2_MYO1D_chr17_31203796_ENST00000583621_ASIC2_chr17_31355410_ENST00000359872_length(amino acids)=231AA_BP=
MPPPWGECRSSEMGLDFFPVYSITACRIDCETRYIVENCNCRMVHMPGDAPFCTPEQHKECAEPALGLLAEKDSNYCLCRTPCNLTRYNK
ELSMVKIPSKTSAKYLEKKFNKSEKYISENILVLDIFFEALNYETIEQKKAYEVAALLGDIGGQMGLFIGASILTILELFDYIYELIKEK

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

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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/chr17:31203796/chr17:31355410)
- 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
MYO1D O94832	ASIC2 Q16515
FUNCTION: Unconventional myosin that functions as actin-based motor protein with ATPase activity (By similarity). Plays a role in endosomal protein trafficking, and especially in the transfer of cargo proteins from early to recycling endosomes (By similarity). Required for normal planar cell polarity in ciliated tracheal cells, for normal rotational polarity of cilia, and for coordinated, unidirectional ciliary movement in the trachea. Required for normal, polarized cilia organization in brain ependymal epithelial cells (By similarity). {ECO:0000250\|UniProtKB:F1PRN2, ECO:0000250\|UniProtKB:Q63357}.	FUNCTION: Cation channel with high affinity for sodium, which is gated by extracellular protons and inhibited by the diuretic amiloride. Also permeable for Li(+) and K(+). Generates a biphasic current with a fast inactivating and a slow sustained phase. Heteromeric channel assembly seems to modulate.

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

ASIC2

chr17:31203796

chr17:31355410

ENST00000225823

449_512

329.0

564.0

Topological domain

Cytoplasmic

Tgene

ASIC2

chr17:31203796

chr17:31355410

ENST00000359872

449_512

278.0

513.0

Topological domain

Cytoplasmic

Tgene

ASIC2

chr17:31203796

chr17:31355410

ENST00000225823

428_448

329.0

564.0

Transmembrane

Helical

Tgene

ASIC2

chr17:31203796

chr17:31355410

ENST00000359872

428_448

278.0

513.0

Transmembrane

Helical

- 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

MYO1D

chr17:31203796

chr17:31355410

ENST00000318217

699_719

31.666666666666668

1007.0

Domain

IQ 1

Hgene

MYO1D

chr17:31203796

chr17:31355410

ENST00000318217

721_741

31.666666666666668

1007.0

Domain

IQ 2

Hgene

MYO1D

chr17:31203796

chr17:31355410

ENST00000318217

812_1005

31.666666666666668

1007.0

Domain

TH1

Hgene

MYO1D

chr17:31203796

chr17:31355410

ENST00000318217

9_695

31.666666666666668

1007.0

Domain

Myosin motor

Hgene

MYO1D

chr17:31203796

chr17:31355410

ENST00000318217

102_109

31.666666666666668

1007.0

Nucleotide binding

ATP

Hgene

MYO1D

chr17:31203796

chr17:31355410

ENST00000318217

572_594

31.666666666666668

1007.0

Region

Actin-binding

Tgene

ASIC2

chr17:31203796

chr17:31355410

ENST00000225823

1_37

329.0

564.0

Topological domain

Cytoplasmic

Tgene

ASIC2

chr17:31203796

chr17:31355410

ENST00000225823

59_427

329.0

564.0

Topological domain

Extracellular

Tgene

ASIC2

chr17:31203796

chr17:31355410

ENST00000359872

1_37

278.0

513.0

Topological domain

Cytoplasmic

Tgene

ASIC2

chr17:31203796

chr17:31355410

ENST00000359872

59_427

278.0

513.0

Topological domain

Extracellular

Tgene

ASIC2

chr17:31203796

chr17:31355410

ENST00000225823

38_58

329.0

564.0

Transmembrane

Helical

Tgene

ASIC2

chr17:31203796

chr17:31355410

ENST00000359872

38_58

278.0

513.0

Transmembrane

Helical

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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 >>>353_MYO1D_31203796_ASIC2_31355410_ranked_0.pdb	MYO1D	31203796	31203796	ENST00000359872	ASIC2	chr17	31355410	-	MPPPWGECRSSEMGLDFFPVYSITACRIDCETRYIVENCNCRMVHMPGDAPFCTPEQHKECAEPALGLLAEKDSNYCLCRTPCNLTRYNK ELSMVKIPSKTSAKYLEKKFNKSEKYISENILVLDIFFEALNYETIEQKKAYEVAALLGDIGGQMGLFIGASILTILELFDYIYELIKEK	231

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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.

MYO1D_pLDDT.png

ASIC2_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
MYO1D
ASIC2

- 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 MYO1D-ASIC2

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 MYO1D-ASIC2

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	ASIC2	C0004352	Autistic Disorder	1	CTD_human
Tgene	ASIC2	C0021368	Inflammation	1	CTD_human