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	Fusion Gene Summary
	Fusion Gene ORF analysis
	Fusion Genomic Features
	Fusion Protein Features
	Fusion Gene Sequence
	Fusion Gene PPI analysis
	Related Drugs
	Related Diseases

Fusion gene:MYO1D-AATF (FusionGDB2 ID:56640)

Fusion Gene Summary for MYO1D-AATF

Fusion gene summary

Fusion gene information	Fusion gene name: MYO1D-AATF
	Fusion gene ID: 56640
		Hgene	Tgene
	Gene symbol	MYO1D	AATF
	Gene ID	4642	26574
	Gene name	myosin ID	apoptosis antagonizing transcription factor
	Synonyms	PPP1R108\|myr4	BFR2\|CHE-1\|CHE1\|DED
	Cytomap	17q11.2	17q12
	Type of gene	protein-coding	protein-coding
	Description	unconventional myosin-Idmyosin-I gammaprotein phosphatase 1, regulatory subunit 108	protein AATFrb-binding protein Che-1
	Modification date	20200313	20200313
	UniProtAcc	O94832	Q9NY61
	Ensembl transtripts involved in fusion gene	ENST00000318217, ENST00000579584, ENST00000583621, ENST00000394649, ENST00000584232,	ENST00000590321, ENST00000225402,
Fusion gene scores	* DoF score	24 X 17 X 12=4896	26 X 13 X 11=3718
	# samples	28	28
	** MAII score	log2(28/4896*10)=-4.12810482574769 possibly effective Gene in Pan-Cancer Fusion Genes (peGinPCFGs). DoF>8 and MAII<0	log2(28/3718*10)=-3.73102803797452 possibly effective Gene in Pan-Cancer Fusion Genes (peGinPCFGs). DoF>8 and MAII<0
Context	PubMed: MYO1D [Title/Abstract] AND AATF [Title/Abstract] AND fusion [Title/Abstract]
Most frequent breakpoint	MYO1D(31203795)-AATF(35376303), # samples:1
Anticipated loss of major functional domain due to fusion event.

* 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
Tgene	AATF	GO:0032929	negative regulation of superoxide anion generation	15207272
Tgene	AATF	GO:0045944	positive regulation of transcription by RNA polymerase II	18049476
Tgene	AATF	GO:2000378	negative regulation of reactive oxygen species metabolic process	15207272

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

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	ACC	TCGA-OR-A5K5	MYO1D	chr17	31203795	-	AATF	chr17	35376303	+

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Fusion Gene ORF analysis for MYO1D-AATF

Open reading frame (ORF) analsis of fusion genes based on Ensembl gene isoform structure.
* Click on the break point to see the gene structure around the break point region using the UCSC Genome Browser.

ORF	Henst	Tenst	Hgene	Hchr	Hbp	Hstrand	Tgene	Tchr	Tbp	Tstrand
5CDS-intron	ENST00000318217	ENST00000590321	MYO1D	chr17	31203795	-	AATF	chr17	35376303	+
5CDS-intron	ENST00000579584	ENST00000590321	MYO1D	chr17	31203795	-	AATF	chr17	35376303	+
5CDS-intron	ENST00000583621	ENST00000590321	MYO1D	chr17	31203795	-	AATF	chr17	35376303	+
In-frame	ENST00000318217	ENST00000225402	MYO1D	chr17	31203795	-	AATF	chr17	35376303	+
In-frame	ENST00000579584	ENST00000225402	MYO1D	chr17	31203795	-	AATF	chr17	35376303	+
In-frame	ENST00000583621	ENST00000225402	MYO1D	chr17	31203795	-	AATF	chr17	35376303	+
intron-3CDS	ENST00000394649	ENST00000225402	MYO1D	chr17	31203795	-	AATF	chr17	35376303	+
intron-3CDS	ENST00000584232	ENST00000225402	MYO1D	chr17	31203795	-	AATF	chr17	35376303	+
intron-intron	ENST00000394649	ENST00000590321	MYO1D	chr17	31203795	-	AATF	chr17	35376303	+
intron-intron	ENST00000584232	ENST00000590321	MYO1D	chr17	31203795	-	AATF	chr17	35376303	+

ORFfinder result based on the fusion transcript sequence of in-frame fusion genes.

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	31203795	-	ENST00000225402	AATF	chr17	35376303	+	892	400	869	552	105
ENST00000579584	MYO1D	chr17	31203795	-	ENST00000225402	AATF	chr17	35376303	+	859	367	836	519	105
ENST00000583621	MYO1D	chr17	31203795	-	ENST00000225402	AATF	chr17	35376303	+	892	400	869	552	105

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	ENST00000225402	MYO1D	chr17	31203795	-	AATF	chr17	35376303	+	0.1443752	0.8556248
ENST00000579584	ENST00000225402	MYO1D	chr17	31203795	-	AATF	chr17	35376303	+	0.18652238	0.81347764
ENST00000583621	ENST00000225402	MYO1D	chr17	31203795	-	AATF	chr17	35376303	+	0.1443752	0.8556248

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Fusion Genomic Features for MYO1D-AATF

FusionAI prediction of the potential fusion gene breakpoint based on the pre-mature RNA sequence context (+/- 5kb of individual partner genes, total 20kb length sequence). FusionAI is a fusion gene breakpoint classifier based on convolutional neural network by comparing the fusion positive and negative sequence context of ~ 20K fusion gene data. From here, we can have the relative potentency of the 20K genomic sequence how individual sequnce will be likely used as the gene fusion breakpoints.

Hgene

Hchr

Hbp

Hstrand

Tgene

Tchr

Tbp

Tstrand

1-p

p (fusion gene breakpoint)

Distribution of 44 human genomic features loci across 20kb length fusion breakpoint regions. We integrated a total of 44 different types of human genomic feature loci information across five big categories including virus integration sites, repeats, structural variants, chromatin states, and gene expression regulation. More details are in help page.

Distribution of 44 human genomic features loci across 20kb length fusion breakpoint regions that are ovelapped with the top 1% feature importance score regions. More details are in help page.

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Fusion Protein Features for MYO1D-AATF

Four levels of functional features of fusion genes
Go to FGviewer search page for the most frequent breakpoint (https://ccsmweb.uth.edu/FGviewer/chr17:31203795/chr17:35376303)
- 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	AATF Q9NY61
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: May function as a general inhibitor of the histone deacetylase HDAC1. Binding to the pocket region of RB1 may displace HDAC1 from RB1/E2F complexes, leading to activation of E2F target genes and cell cycle progression. Conversely, displacement of HDAC1 from SP1 bound to the CDKN1A promoter leads to increased expression of this CDK inhibitor and blocks cell cycle progression. Also antagonizes PAWR mediated induction of aberrant amyloid peptide production in Alzheimer disease (presenile and senile dementia), although the molecular basis for this phenomenon has not been described to date. {ECO:0000269\|PubMed:12450794, ECO:0000269\|PubMed:12847090, ECO:0000269\|PubMed:14627703, ECO:0000269\|PubMed:15207272}.

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.

- In-frame and 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

- In-frame and 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

chr17:31203795

chr17:35376303

ENST00000318217

699_719

1007.0

Domain

IQ 1

Hgene

MYO1D

chr17:31203795

chr17:35376303

ENST00000318217

721_741

1007.0

Domain

IQ 2

Hgene

MYO1D

chr17:31203795

chr17:35376303

ENST00000318217

812_1005

1007.0

Domain

TH1

Hgene

MYO1D

chr17:31203795

chr17:35376303

ENST00000318217

9_695

1007.0

Domain

Myosin motor

Hgene

MYO1D

chr17:31203795

chr17:35376303

ENST00000318217

102_109

1007.0

Nucleotide binding

ATP

Hgene

MYO1D

chr17:31203795

chr17:35376303

ENST00000318217

572_594

1007.0

Region

Actin-binding

Tgene

AATF

chr17:31203795

chr17:35376303

ENST00000225402

96_195

466

561.0

Compositional bias

Note=Glu-rich

Tgene

AATF

chr17:31203795

chr17:35376303

ENST00000225402

273_315

466

561.0

Region

Note=POLR2J binding

Tgene

AATF

chr17:31203795

chr17:35376303

ENST00000225402

316_372

466

561.0

Region

Note=RB1 binding

Tgene

AATF

chr17:31203795

chr17:35376303

ENST00000225402

373_472

466

561.0

Region

Note=RB1 and SP1 binding

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Fusion Gene Sequence for MYO1D-AATF

For in-frame fusion transcripts, we provide the fusion transcript sequences and fusion amino acid sequences. To have fusion amino acid sequence, we ran ORFfinder and chose the longest ORF among the all predicted ones.

>56640_56640_1_MYO1D-AATF_MYO1D_chr17_31203795_ENST00000318217_AATF_chr17_35376303_ENST00000225402_length(transcript)=892nt_BP=400nt
AGGCTGGAGGCGGGACCAGCCGCTGCCGTCTCCGTCTCGGTGTCCCGGCCCCTACAGCGCCCGGCAGCCGCGGCGGGAGGAGCGGAAACT
GTCGGGTGCGTCCCGTTCGGAGCCGCGCCGGCCGAGAAGGCGCCGAGGAGCAGCGAGGCGGCCTCTGTCCGGCCCGGACCCGCCGAGCGG
CGTGCGCGCCCCCTCCCCGTAGCCTCGCGGCGCGGCCTCGCCCCGGCCCCTCCCGAGCTCATCGCGGGCCCACGGAGCGGCCCCGGAGGC
CCGAGCGCGCCCACCTGAGCCCCCGCGCTGGCGCCATGGCGGAGCAGGAGAGCCTGGAATTCGGCAAGGCAGACTTCGTGCTGATGGACA
CCGTCTCCATGCCCGAGTTCATGGCCAACCTCAGGCTCAGCTCCTTCGAGAACTCATAGAACGGAAGACCAGCTCCTTGGATCCCAACGA
TCAGGTGGCCATGGGAAGGCAGTGGCTTGCAATCCAGAAGTTACGAAGCAAAATCCACAAAAAAGTAGATAGGAAAGCCAGCAAAGGCAG
GAAACTTCGGTTTCATGTCCTTAGCAAGCTACTGAGTTTCATGGCACCTATTGACCATACTACAATGAATGATGATGCCAGGACAGAACT
GTACCGCTCTCTTTTTGGCCAGCTCCACCCTCCCGACGAAGGCCACGGGGATTGACATCGCCCACCTCCGACACCCAGTGGGCGCCTTGG
CTGGTGCGGCTGCTGGTCCAGATGGAGGAAACCAGTGACTTTATGGGGCTGAGCTAGTAGGGAAGCCCCTGGAAAGATGCTGCGTTCCGA

>56640_56640_1_MYO1D-AATF_MYO1D_chr17_31203795_ENST00000318217_AATF_chr17_35376303_ENST00000225402_length(amino acids)=105AA_BP=
MWRLKAGLGGTAPLRVLGTGSERSIFPGASLLAQPHKVTGFLHLDQQPHQPRRPLGVGGGRCQSPWPSSGGWSWPKRERYSSVLASSFIV

--------------------------------------------------------------
>56640_56640_2_MYO1D-AATF_MYO1D_chr17_31203795_ENST00000579584_AATF_chr17_35376303_ENST00000225402_length(transcript)=859nt_BP=367nt
GTCTCGGTGTCCCGGCCCCTACAGCGCCCGGCAGCCGCGGCGGGAGGAGCGGAAACTGTCGGGTGCGTCCCGTTCGGAGCCGCGCCGGCC
GAGAAGGCGCCGAGGAGCAGCGAGGCGGCCTCTGTCCGGCCCGGACCCGCCGAGCGGCGTGCGCGCCCCCTCCCCGTAGCCTCGCGGCGC
GGCCTCGCCCCGGCCCCTCCCGAGCTCATCGCGGGCCCACGGAGCGGCCCCGGAGGCCCGAGCGCGCCCACCTGAGCCCCCGCGCTGGCG
CCATGGCGGAGCAGGAGAGCCTGGAATTCGGCAAGGCAGACTTCGTGCTGATGGACACCGTCTCCATGCCCGAGTTCATGGCCAACCTCA
GGCTCAGCTCCTTCGAGAACTCATAGAACGGAAGACCAGCTCCTTGGATCCCAACGATCAGGTGGCCATGGGAAGGCAGTGGCTTGCAAT
CCAGAAGTTACGAAGCAAAATCCACAAAAAAGTAGATAGGAAAGCCAGCAAAGGCAGGAAACTTCGGTTTCATGTCCTTAGCAAGCTACT
GAGTTTCATGGCACCTATTGACCATACTACAATGAATGATGATGCCAGGACAGAACTGTACCGCTCTCTTTTTGGCCAGCTCCACCCTCC
CGACGAAGGCCACGGGGATTGACATCGCCCACCTCCGACACCCAGTGGGCGCCTTGGCTGGTGCGGCTGCTGGTCCAGATGGAGGAAACC
AGTGACTTTATGGGGCTGAGCTAGTAGGGAAGCCCCTGGAAAGATGCTGCGTTCCGAACCTGTGCCTAATACACGCAAGGGCGCTGTCCC

>56640_56640_2_MYO1D-AATF_MYO1D_chr17_31203795_ENST00000579584_AATF_chr17_35376303_ENST00000225402_length(amino acids)=105AA_BP=
MWRLKAGLGGTAPLRVLGTGSERSIFPGASLLAQPHKVTGFLHLDQQPHQPRRPLGVGGGRCQSPWPSSGGWSWPKRERYSSVLASSFIV

--------------------------------------------------------------
>56640_56640_3_MYO1D-AATF_MYO1D_chr17_31203795_ENST00000583621_AATF_chr17_35376303_ENST00000225402_length(transcript)=892nt_BP=400nt
AGGCTGGAGGCGGGACCAGCCGCTGCCGTCTCCGTCTCGGTGTCCCGGCCCCTACAGCGCCCGGCAGCCGCGGCGGGAGGAGCGGAAACT
GTCGGGTGCGTCCCGTTCGGAGCCGCGCCGGCCGAGAAGGCGCCGAGGAGCAGCGAGGCGGCCTCTGTCCGGCCCGGACCCGCCGAGCGG
CGTGCGCGCCCCCTCCCCGTAGCCTCGCGGCGCGGCCTCGCCCCGGCCCCTCCCGAGCTCATCGCGGGCCCACGGAGCGGCCCCGGAGGC
CCGAGCGCGCCCACCTGAGCCCCCGCGCTGGCGCCATGGCGGAGCAGGAGAGCCTGGAATTCGGCAAGGCAGACTTCGTGCTGATGGACA
CCGTCTCCATGCCCGAGTTCATGGCCAACCTCAGGCTCAGCTCCTTCGAGAACTCATAGAACGGAAGACCAGCTCCTTGGATCCCAACGA
TCAGGTGGCCATGGGAAGGCAGTGGCTTGCAATCCAGAAGTTACGAAGCAAAATCCACAAAAAAGTAGATAGGAAAGCCAGCAAAGGCAG
GAAACTTCGGTTTCATGTCCTTAGCAAGCTACTGAGTTTCATGGCACCTATTGACCATACTACAATGAATGATGATGCCAGGACAGAACT
GTACCGCTCTCTTTTTGGCCAGCTCCACCCTCCCGACGAAGGCCACGGGGATTGACATCGCCCACCTCCGACACCCAGTGGGCGCCTTGG
CTGGTGCGGCTGCTGGTCCAGATGGAGGAAACCAGTGACTTTATGGGGCTGAGCTAGTAGGGAAGCCCCTGGAAAGATGCTGCGTTCCGA

>56640_56640_3_MYO1D-AATF_MYO1D_chr17_31203795_ENST00000583621_AATF_chr17_35376303_ENST00000225402_length(amino acids)=105AA_BP=
MWRLKAGLGGTAPLRVLGTGSERSIFPGASLLAQPHKVTGFLHLDQQPHQPRRPLGVGGGRCQSPWPSSGGWSWPKRERYSSVLASSFIV

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

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Fusion Gene PPI Analysis for MYO1D-AATF

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 (BIOGRID-3.4.160)

Hgene

Hgene's interactors

Tgene

Tgene's interactors

- Retained PPIs in in-frame fusion.

Partner

Gene

Hbp

Tbp

ENST

Strand

BPexon

TotalExon

Protein feature loci

*BPloci

TotalLen

Still interaction with

- Lost PPIs in in-frame fusion.

Partner

Gene

Hbp

Tbp

ENST

Strand

BPexon

TotalExon

Protein feature loci

*BPloci

TotalLen

Interaction lost with

- Retained PPIs, but lost function due to frame-shift fusion.

Partner

Gene

Hbp

Tbp

ENST

Strand

BPexon

TotalExon

Protein feature loci

*BPloci

TotalLen

Interaction lost with

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Related Drugs for MYO1D-AATF

Drugs targeting genes involved in this fusion gene.
(DrugBank Version 5.1.8 2021-05-08)

Partner

Gene

UniProtAcc

DrugBank ID

Drug name

Drug activity

Drug type

Drug status

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Related Diseases for MYO1D-AATF

Diseases associated with fusion partners.
(DisGeNet 4.0)

Partner

Gene

Disease ID

Disease name

# pubmeds

Source