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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:DAZAP1-MEF2D

Fusion Protein Summary

Fusion gene summary

Fusion partner gene information	Fusion gene name: DAZAP1-MEF2D
	FusionPDB ID: 21403
	FusionGDB2.0 ID: 21403
		Hgene	Tgene
	Gene symbol	DAZAP1	MEF2D
	Gene ID	26528	4209
	Gene name	DAZ associated protein 1	myocyte enhancer factor 2D
	Synonyms	-	-
	Cytomap	19p13.3	1q22
	Type of gene	protein-coding	protein-coding
	Description	DAZ-associated protein 1deleted in azoospermia-associated protein 1testicular tissue protein Li 50	myocyte-specific enhancer factor 2DMADS box transcription enhancer factor 2, polypeptide D
	Modification date	20200313	20200322
	UniProtAcc	Q96EP5	Q14814
Ensembl transtripts involved in fusion gene	ENST ids	ENST00000586579, ENST00000233078, ENST00000336761,	ENST00000340875, ENST00000348159, ENST00000353795, ENST00000360595, ENST00000368240, ENST00000464356,
Fusion gene scores for assessment (based on all fusion genes of FusionGDB 2.0)	* DoF score	16 X 15 X 10=2400	12 X 8 X 7=672
	# samples	21	13
	** MAII score	log2(21/2400*10)=-3.51457317282976 possibly effective Gene in Pan-Cancer Fusion Genes (peGinPCFGs). DoF>8 and MAII<0	log2(13/672*10)=-2.36994960975031 possibly effective Gene in Pan-Cancer Fusion Genes (peGinPCFGs). DoF>8 and MAII<0
Context (manual curation of fusion genes in FusionPDB)	PubMed: DAZAP1 [Title/Abstract] AND MEF2D [Title/Abstract] AND fusion [Title/Abstract]
Most frequent breakpoint (based on all fusion genes of FusionGDB 2.0)	DAZAP1(1422396)-MEF2D(156446996), # samples:2 MEF2D(156449080)-DAZAP1(1425876), # samples:2
Anticipated loss of major functional domain due to fusion event.	DAZAP1-MEF2D 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. DAZAP1-MEF2D 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. DAZAP1-MEF2D 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. DAZAP1-MEF2D 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. MEF2D-DAZAP1 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. MEF2D-DAZAP1 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. MEF2D-DAZAP1 seems lost the major protein functional domain in Hgene partner, which is a essential gene due to the frame-shifted ORF. MEF2D-DAZAP1 seems lost the major protein functional domain in Hgene partner, which is a transcription factor due to the frame-shifted ORF. MEF2D-DAZAP1 seems lost the major protein functional domain in Tgene partner, which is a essential gene due to the frame-shifted 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
Tgene	MEF2D	GO:0045944	positive regulation of transcription by RNA polymerase II	20590529

Fusion gene breakpoints across DAZAP1 (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 MEF2D (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
ChiTaRS5.0	N/A	AY678451	DAZAP1	chr19	1422396	+	MEF2D	chr1	156446996	-
ChiTaRS5.0	N/A	DD225343	DAZAP1	chr19	1422396	+	MEF2D	chr1	156446996	-

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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)
ENST00000336761	DAZAP1	chr19	1422396	+	ENST00000464356	MEF2D	chr1	156446996	-	5467	668	205	1548	447
ENST00000336761	DAZAP1	chr19	1422396	+	ENST00000348159	MEF2D	chr1	156446996	-	5488	668	205	1569	454
ENST00000336761	DAZAP1	chr19	1422396	+	ENST00000353795	MEF2D	chr1	156446996	-	5485	668	205	1569	454
ENST00000336761	DAZAP1	chr19	1422396	+	ENST00000340875	MEF2D	chr1	156446996	-	5485	668	205	1569	454
ENST00000336761	DAZAP1	chr19	1422396	+	ENST00000368240	MEF2D	chr1	156446996	-	5464	668	205	1548	447
ENST00000336761	DAZAP1	chr19	1422396	+	ENST00000360595	MEF2D	chr1	156446996	-	2984	668	205	1548	447
ENST00000233078	DAZAP1	chr19	1422396	+	ENST00000464356	MEF2D	chr1	156446996	-	5423	624	161	1504	447
ENST00000233078	DAZAP1	chr19	1422396	+	ENST00000348159	MEF2D	chr1	156446996	-	5444	624	161	1525	454
ENST00000233078	DAZAP1	chr19	1422396	+	ENST00000353795	MEF2D	chr1	156446996	-	5441	624	161	1525	454
ENST00000233078	DAZAP1	chr19	1422396	+	ENST00000340875	MEF2D	chr1	156446996	-	5441	624	161	1525	454
ENST00000233078	DAZAP1	chr19	1422396	+	ENST00000368240	MEF2D	chr1	156446996	-	5420	624	161	1504	447
ENST00000233078	DAZAP1	chr19	1422396	+	ENST00000360595	MEF2D	chr1	156446996	-	2940	624	161	1504	447

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
ENST00000336761	ENST00000464356	DAZAP1	chr19	1422396	+	MEF2D	chr1	156446996	-	0.01381495	0.986185
ENST00000336761	ENST00000348159	DAZAP1	chr19	1422396	+	MEF2D	chr1	156446996	-	0.011074447	0.9889255
ENST00000336761	ENST00000353795	DAZAP1	chr19	1422396	+	MEF2D	chr1	156446996	-	0.011114092	0.9888859
ENST00000336761	ENST00000340875	DAZAP1	chr19	1422396	+	MEF2D	chr1	156446996	-	0.011114092	0.9888859
ENST00000336761	ENST00000368240	DAZAP1	chr19	1422396	+	MEF2D	chr1	156446996	-	0.013874599	0.9861254
ENST00000336761	ENST00000360595	DAZAP1	chr19	1422396	+	MEF2D	chr1	156446996	-	0.023486495	0.97651345
ENST00000233078	ENST00000464356	DAZAP1	chr19	1422396	+	MEF2D	chr1	156446996	-	0.014171233	0.98582876
ENST00000233078	ENST00000348159	DAZAP1	chr19	1422396	+	MEF2D	chr1	156446996	-	0.011322623	0.9886774
ENST00000233078	ENST00000353795	DAZAP1	chr19	1422396	+	MEF2D	chr1	156446996	-	0.011366922	0.9886331
ENST00000233078	ENST00000340875	DAZAP1	chr19	1422396	+	MEF2D	chr1	156446996	-	0.011366922	0.9886331
ENST00000233078	ENST00000368240	DAZAP1	chr19	1422396	+	MEF2D	chr1	156446996	-	0.01423314	0.9857669
ENST00000233078	ENST00000360595	DAZAP1	chr19	1422396	+	MEF2D	chr1	156446996	-	0.024485998	0.975514

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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

>21403_21403_1_DAZAP1-MEF2D_DAZAP1_chr19_1422396_ENST00000233078_MEF2D_chr1_156446996_ENST00000340875_length(amino acids)=454AA_BP=154
MNNSGADEIGKLFVGGLDWSTTQETLRSYFSQYGEVVDCVIMKDKTTNQSRGFGFVKFKDPNCVGTVLASRPHTLDGRNIDPKPCTPRGM
QPERTRPKEGWQKGPRSDNSKSNKIFVGGIPHNCGETELREYFKKFGVVTEVVMIYDAEKQRPRGNGYVSARASPGLLPVANGNSLNKVI
PAKSPPPPTHSTQLGAPSRKPDLRVITSQAGKGLMHHLTEDHLDLNNAQRLGVSQSTHSLTTPVVSVATPSLLSQGLPFSSMPTAYNTDY
QLTSAELSSLPAFSSPGGLSLGNVTAWQQPQQPQQPQQPQPPQQQPPQPQQPQPQQPQQPQQPPQQQSHLVPVSLSNLIPGSPLPHVGAA
LTVTTHPHISIKSEPVSPSRERSPAPPPPAVFPAARPEPGDGLSSPAGGSYETGDRDDGRGDFGPTLGLLRPAPEPEAEGSAVKRMRLDT

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

>21403_21403_2_DAZAP1-MEF2D_DAZAP1_chr19_1422396_ENST00000233078_MEF2D_chr1_156446996_ENST00000348159_length(amino acids)=454AA_BP=154
MNNSGADEIGKLFVGGLDWSTTQETLRSYFSQYGEVVDCVIMKDKTTNQSRGFGFVKFKDPNCVGTVLASRPHTLDGRNIDPKPCTPRGM
QPERTRPKEGWQKGPRSDNSKSNKIFVGGIPHNCGETELREYFKKFGVVTEVVMIYDAEKQRPRGNGYVSARASPGLLPVANGNSLNKVI
PAKSPPPPTHSTQLGAPSRKPDLRVITSQAGKGLMHHLTEDHLDLNNAQRLGVSQSTHSLTTPVVSVATPSLLSQGLPFSSMPTAYNTDY
QLTSAELSSLPAFSSPGGLSLGNVTAWQQPQQPQQPQQPQPPQQQPPQPQQPQPQQPQQPQQPPQQQSHLVPVSLSNLIPGSPLPHVGAA
LTVTTHPHISIKSEPVSPSRERSPAPPPPAVFPAARPEPGDGLSSPAGGSYETGDRDDGRGDFGPTLGLLRPAPEPEAEGSAVKRMRLDT

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

>21403_21403_3_DAZAP1-MEF2D_DAZAP1_chr19_1422396_ENST00000233078_MEF2D_chr1_156446996_ENST00000353795_length(amino acids)=454AA_BP=154
MNNSGADEIGKLFVGGLDWSTTQETLRSYFSQYGEVVDCVIMKDKTTNQSRGFGFVKFKDPNCVGTVLASRPHTLDGRNIDPKPCTPRGM
QPERTRPKEGWQKGPRSDNSKSNKIFVGGIPHNCGETELREYFKKFGVVTEVVMIYDAEKQRPRGNGYVSARASPGLLPVANGNSLNKVI
PAKSPPPPTHSTQLGAPSRKPDLRVITSQAGKGLMHHLTEDHLDLNNAQRLGVSQSTHSLTTPVVSVATPSLLSQGLPFSSMPTAYNTDY
QLTSAELSSLPAFSSPGGLSLGNVTAWQQPQQPQQPQQPQPPQQQPPQPQQPQPQQPQQPQQPPQQQSHLVPVSLSNLIPGSPLPHVGAA
LTVTTHPHISIKSEPVSPSRERSPAPPPPAVFPAARPEPGDGLSSPAGGSYETGDRDDGRGDFGPTLGLLRPAPEPEAEGSAVKRMRLDT

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

>21403_21403_4_DAZAP1-MEF2D_DAZAP1_chr19_1422396_ENST00000233078_MEF2D_chr1_156446996_ENST00000360595_length(amino acids)=447AA_BP=154
MNNSGADEIGKLFVGGLDWSTTQETLRSYFSQYGEVVDCVIMKDKTTNQSRGFGFVKFKDPNCVGTVLASRPHTLDGRNIDPKPCTPRGM
QPERTRPKEGWQKGPRSDNSKSNKIFVGGIPHNCGETELREYFKKFGVVTEVVMIYDAEKQRPRGNGYVSARASPGLLPVANGNSLNKVI
PAKSPPPPTHSTQLGAPSRKPDLRVITSQAGKGLMHHLNNAQRLGVSQSTHSLTTPVVSVATPSLLSQGLPFSSMPTAYNTDYQLTSAEL
SSLPAFSSPGGLSLGNVTAWQQPQQPQQPQQPQPPQQQPPQPQQPQPQQPQQPQQPPQQQSHLVPVSLSNLIPGSPLPHVGAALTVTTHP

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

>21403_21403_5_DAZAP1-MEF2D_DAZAP1_chr19_1422396_ENST00000233078_MEF2D_chr1_156446996_ENST00000368240_length(amino acids)=447AA_BP=154
MNNSGADEIGKLFVGGLDWSTTQETLRSYFSQYGEVVDCVIMKDKTTNQSRGFGFVKFKDPNCVGTVLASRPHTLDGRNIDPKPCTPRGM
QPERTRPKEGWQKGPRSDNSKSNKIFVGGIPHNCGETELREYFKKFGVVTEVVMIYDAEKQRPRGNGYVSARASPGLLPVANGNSLNKVI
PAKSPPPPTHSTQLGAPSRKPDLRVITSQAGKGLMHHLNNAQRLGVSQSTHSLTTPVVSVATPSLLSQGLPFSSMPTAYNTDYQLTSAEL
SSLPAFSSPGGLSLGNVTAWQQPQQPQQPQQPQPPQQQPPQPQQPQPQQPQQPQQPPQQQSHLVPVSLSNLIPGSPLPHVGAALTVTTHP

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

>21403_21403_6_DAZAP1-MEF2D_DAZAP1_chr19_1422396_ENST00000233078_MEF2D_chr1_156446996_ENST00000464356_length(amino acids)=447AA_BP=154
MNNSGADEIGKLFVGGLDWSTTQETLRSYFSQYGEVVDCVIMKDKTTNQSRGFGFVKFKDPNCVGTVLASRPHTLDGRNIDPKPCTPRGM
QPERTRPKEGWQKGPRSDNSKSNKIFVGGIPHNCGETELREYFKKFGVVTEVVMIYDAEKQRPRGNGYVSARASPGLLPVANGNSLNKVI
PAKSPPPPTHSTQLGAPSRKPDLRVITSQAGKGLMHHLNNAQRLGVSQSTHSLTTPVVSVATPSLLSQGLPFSSMPTAYNTDYQLTSAEL
SSLPAFSSPGGLSLGNVTAWQQPQQPQQPQQPQPPQQQPPQPQQPQPQQPQQPQQPPQQQSHLVPVSLSNLIPGSPLPHVGAALTVTTHP

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

>21403_21403_7_DAZAP1-MEF2D_DAZAP1_chr19_1422396_ENST00000336761_MEF2D_chr1_156446996_ENST00000340875_length(amino acids)=454AA_BP=154
MNNSGADEIGKLFVGGLDWSTTQETLRSYFSQYGEVVDCVIMKDKTTNQSRGFGFVKFKDPNCVGTVLASRPHTLDGRNIDPKPCTPRGM
QPERTRPKEGWQKGPRSDNSKSNKIFVGGIPHNCGETELREYFKKFGVVTEVVMIYDAEKQRPRGNGYVSARASPGLLPVANGNSLNKVI
PAKSPPPPTHSTQLGAPSRKPDLRVITSQAGKGLMHHLTEDHLDLNNAQRLGVSQSTHSLTTPVVSVATPSLLSQGLPFSSMPTAYNTDY
QLTSAELSSLPAFSSPGGLSLGNVTAWQQPQQPQQPQQPQPPQQQPPQPQQPQPQQPQQPQQPPQQQSHLVPVSLSNLIPGSPLPHVGAA
LTVTTHPHISIKSEPVSPSRERSPAPPPPAVFPAARPEPGDGLSSPAGGSYETGDRDDGRGDFGPTLGLLRPAPEPEAEGSAVKRMRLDT

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

>21403_21403_8_DAZAP1-MEF2D_DAZAP1_chr19_1422396_ENST00000336761_MEF2D_chr1_156446996_ENST00000348159_length(amino acids)=454AA_BP=154
MNNSGADEIGKLFVGGLDWSTTQETLRSYFSQYGEVVDCVIMKDKTTNQSRGFGFVKFKDPNCVGTVLASRPHTLDGRNIDPKPCTPRGM
QPERTRPKEGWQKGPRSDNSKSNKIFVGGIPHNCGETELREYFKKFGVVTEVVMIYDAEKQRPRGNGYVSARASPGLLPVANGNSLNKVI
PAKSPPPPTHSTQLGAPSRKPDLRVITSQAGKGLMHHLTEDHLDLNNAQRLGVSQSTHSLTTPVVSVATPSLLSQGLPFSSMPTAYNTDY
QLTSAELSSLPAFSSPGGLSLGNVTAWQQPQQPQQPQQPQPPQQQPPQPQQPQPQQPQQPQQPPQQQSHLVPVSLSNLIPGSPLPHVGAA
LTVTTHPHISIKSEPVSPSRERSPAPPPPAVFPAARPEPGDGLSSPAGGSYETGDRDDGRGDFGPTLGLLRPAPEPEAEGSAVKRMRLDT

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

>21403_21403_9_DAZAP1-MEF2D_DAZAP1_chr19_1422396_ENST00000336761_MEF2D_chr1_156446996_ENST00000353795_length(amino acids)=454AA_BP=154
MNNSGADEIGKLFVGGLDWSTTQETLRSYFSQYGEVVDCVIMKDKTTNQSRGFGFVKFKDPNCVGTVLASRPHTLDGRNIDPKPCTPRGM
QPERTRPKEGWQKGPRSDNSKSNKIFVGGIPHNCGETELREYFKKFGVVTEVVMIYDAEKQRPRGNGYVSARASPGLLPVANGNSLNKVI
PAKSPPPPTHSTQLGAPSRKPDLRVITSQAGKGLMHHLTEDHLDLNNAQRLGVSQSTHSLTTPVVSVATPSLLSQGLPFSSMPTAYNTDY
QLTSAELSSLPAFSSPGGLSLGNVTAWQQPQQPQQPQQPQPPQQQPPQPQQPQPQQPQQPQQPPQQQSHLVPVSLSNLIPGSPLPHVGAA
LTVTTHPHISIKSEPVSPSRERSPAPPPPAVFPAARPEPGDGLSSPAGGSYETGDRDDGRGDFGPTLGLLRPAPEPEAEGSAVKRMRLDT

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

>21403_21403_10_DAZAP1-MEF2D_DAZAP1_chr19_1422396_ENST00000336761_MEF2D_chr1_156446996_ENST00000360595_length(amino acids)=447AA_BP=154
MNNSGADEIGKLFVGGLDWSTTQETLRSYFSQYGEVVDCVIMKDKTTNQSRGFGFVKFKDPNCVGTVLASRPHTLDGRNIDPKPCTPRGM
QPERTRPKEGWQKGPRSDNSKSNKIFVGGIPHNCGETELREYFKKFGVVTEVVMIYDAEKQRPRGNGYVSARASPGLLPVANGNSLNKVI
PAKSPPPPTHSTQLGAPSRKPDLRVITSQAGKGLMHHLNNAQRLGVSQSTHSLTTPVVSVATPSLLSQGLPFSSMPTAYNTDYQLTSAEL
SSLPAFSSPGGLSLGNVTAWQQPQQPQQPQQPQPPQQQPPQPQQPQPQQPQQPQQPPQQQSHLVPVSLSNLIPGSPLPHVGAALTVTTHP

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

>21403_21403_11_DAZAP1-MEF2D_DAZAP1_chr19_1422396_ENST00000336761_MEF2D_chr1_156446996_ENST00000368240_length(amino acids)=447AA_BP=154
MNNSGADEIGKLFVGGLDWSTTQETLRSYFSQYGEVVDCVIMKDKTTNQSRGFGFVKFKDPNCVGTVLASRPHTLDGRNIDPKPCTPRGM
QPERTRPKEGWQKGPRSDNSKSNKIFVGGIPHNCGETELREYFKKFGVVTEVVMIYDAEKQRPRGNGYVSARASPGLLPVANGNSLNKVI
PAKSPPPPTHSTQLGAPSRKPDLRVITSQAGKGLMHHLNNAQRLGVSQSTHSLTTPVVSVATPSLLSQGLPFSSMPTAYNTDYQLTSAEL
SSLPAFSSPGGLSLGNVTAWQQPQQPQQPQQPQPPQQQPPQPQQPQPQQPQQPQQPPQQQSHLVPVSLSNLIPGSPLPHVGAALTVTTHP

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

>21403_21403_12_DAZAP1-MEF2D_DAZAP1_chr19_1422396_ENST00000336761_MEF2D_chr1_156446996_ENST00000464356_length(amino acids)=447AA_BP=154
MNNSGADEIGKLFVGGLDWSTTQETLRSYFSQYGEVVDCVIMKDKTTNQSRGFGFVKFKDPNCVGTVLASRPHTLDGRNIDPKPCTPRGM
QPERTRPKEGWQKGPRSDNSKSNKIFVGGIPHNCGETELREYFKKFGVVTEVVMIYDAEKQRPRGNGYVSARASPGLLPVANGNSLNKVI
PAKSPPPPTHSTQLGAPSRKPDLRVITSQAGKGLMHHLNNAQRLGVSQSTHSLTTPVVSVATPSLLSQGLPFSSMPTAYNTDYQLTSAEL
SSLPAFSSPGGLSLGNVTAWQQPQQPQQPQQPQPPQQQPPQPQQPQPQQPQQPQQPPQQQSHLVPVSLSNLIPGSPLPHVGAALTVTTHP

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

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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/chr19:1422396/chr1:156446996)
- 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
DAZAP1 Q96EP5	MEF2D Q14814
FUNCTION: RNA-binding protein, which may be required during spermatogenesis.	FUNCTION: Transcriptional activator which binds specifically to the MEF2 element, 5'-YTA[AT](4)TAR-3', found in numerous muscle-specific, growth factor- and stress-induced genes. Mediates cellular functions not only in skeletal and cardiac muscle development, but also in neuronal differentiation and survival. Plays diverse roles in the control of cell growth, survival and apoptosis via p38 MAPK signaling in muscle-specific and/or growth factor-related transcription. Plays a critical role in the regulation of neuronal apoptosis (By similarity). {ECO:0000250, ECO:0000269\|PubMed:10849446, ECO:0000269\|PubMed:11904443, ECO:0000269\|PubMed:12691662, ECO:0000269\|PubMed:15743823, ECO:0000269\|PubMed:15834131}.

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

DAZAP1

chr19:1422396

chr1:156446996

ENST00000233078

10_97

154.33333333333334

408.0

Domain

RRM 1

Hgene

DAZAP1

chr19:1422396

chr1:156446996

ENST00000336761

10_97

154.33333333333334

629.0

Domain

RRM 1

Tgene

MEF2D

chr19:1422396

chr1:156446996

ENST00000340875

252_255

220.33333333333334

521.0

Compositional bias

Note=Poly-Pro

Tgene

MEF2D

chr19:1422396

chr1:156446996

ENST00000340875

365_404

220.33333333333334

521.0

Compositional bias

Note=Gln/Pro-rich

Tgene

MEF2D

chr19:1422396

chr1:156446996

ENST00000340875

451_456

220.33333333333334

521.0

Compositional bias

Note=Poly-Pro

Tgene

MEF2D

chr19:1422396

chr1:156446996

ENST00000348159

252_255

221.33333333333334

522.0

Compositional bias

Note=Poly-Pro

Tgene

MEF2D

chr19:1422396

chr1:156446996

ENST00000348159

365_404

221.33333333333334

522.0

Compositional bias

Note=Gln/Pro-rich

Tgene

MEF2D

chr19:1422396

chr1:156446996

ENST00000348159

451_456

221.33333333333334

522.0

Compositional bias

Note=Poly-Pro

Tgene

MEF2D

chr19:1422396

chr1:156446996

ENST00000353795

252_255

175.33333333333334

476.0

Compositional bias

Note=Poly-Pro

Tgene

MEF2D

chr19:1422396

chr1:156446996

ENST00000353795

365_404

175.33333333333334

476.0

Compositional bias

Note=Gln/Pro-rich

Tgene

MEF2D

chr19:1422396

chr1:156446996

ENST00000353795

451_456

175.33333333333334

476.0

Compositional bias

Note=Poly-Pro

Tgene

MEF2D

chr19:1422396

chr1:156446996

ENST00000360595

252_255

221.33333333333334

515.0

Compositional bias

Note=Poly-Pro

Tgene

MEF2D

chr19:1422396

chr1:156446996

ENST00000360595

365_404

221.33333333333334

515.0

Compositional bias

Note=Gln/Pro-rich

Tgene

MEF2D

chr19:1422396

chr1:156446996

ENST00000360595

451_456

221.33333333333334

515.0

Compositional bias

Note=Poly-Pro

Tgene

MEF2D

chr19:1422396

chr1:156446996

ENST00000368240

252_255

221.33333333333334

515.0

Compositional bias

Note=Poly-Pro

Tgene

MEF2D

chr19:1422396

chr1:156446996

ENST00000368240

365_404

221.33333333333334

515.0

Compositional bias

Note=Gln/Pro-rich

Tgene

MEF2D

chr19:1422396

chr1:156446996

ENST00000368240

451_456

221.33333333333334

515.0

Compositional bias

Note=Poly-Pro

- 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

DAZAP1

chr19:1422396

chr1:156446996

ENST00000233078

222_385

154.33333333333334

408.0

Compositional bias

Note=Pro-rich

Hgene

DAZAP1

chr19:1422396

chr1:156446996

ENST00000336761

222_385

154.33333333333334

629.0

Compositional bias

Note=Pro-rich

Hgene

DAZAP1

chr19:1422396

chr1:156446996

ENST00000233078

113_190

154.33333333333334

408.0

Domain

RRM 2

Hgene

DAZAP1

chr19:1422396

chr1:156446996

ENST00000336761

113_190

154.33333333333334

629.0

Domain

RRM 2

Tgene

MEF2D

chr19:1422396

chr1:156446996

ENST00000340875

3_31

220.33333333333334

521.0

Compositional bias

Note=Arg/Lys-rich (basic)

Tgene

MEF2D

chr19:1422396

chr1:156446996

ENST00000348159

3_31

221.33333333333334

522.0

Compositional bias

Note=Arg/Lys-rich (basic)

Tgene

MEF2D

chr19:1422396

chr1:156446996

ENST00000353795

3_31

175.33333333333334

476.0

Compositional bias

Note=Arg/Lys-rich (basic)

Tgene

MEF2D

chr19:1422396

chr1:156446996

ENST00000360595

3_31

221.33333333333334

515.0

Compositional bias

Note=Arg/Lys-rich (basic)

Tgene

MEF2D

chr19:1422396

chr1:156446996

ENST00000368240

3_31

221.33333333333334

515.0

Compositional bias

Note=Arg/Lys-rich (basic)

Tgene

MEF2D

chr19:1422396

chr1:156446996

ENST00000340875

58_86

220.33333333333334

521.0

DNA binding

Mef2-type

Tgene

MEF2D

chr19:1422396

chr1:156446996

ENST00000348159

58_86

221.33333333333334

522.0

DNA binding

Mef2-type

Tgene

MEF2D

chr19:1422396

chr1:156446996

ENST00000353795

58_86

175.33333333333334

476.0

DNA binding

Mef2-type

Tgene

MEF2D

chr19:1422396

chr1:156446996

ENST00000360595

58_86

221.33333333333334

515.0

DNA binding

Mef2-type

Tgene

MEF2D

chr19:1422396

chr1:156446996

ENST00000368240

58_86

221.33333333333334

515.0

DNA binding

Mef2-type

Tgene

MEF2D

chr19:1422396

chr1:156446996

ENST00000340875

3_57

220.33333333333334

521.0

Domain

MADS-box

Tgene

MEF2D

chr19:1422396

chr1:156446996

ENST00000348159

3_57

221.33333333333334

522.0

Domain

MADS-box

Tgene

MEF2D

chr19:1422396

chr1:156446996

ENST00000353795

3_57

175.33333333333334

476.0

Domain

MADS-box

Tgene

MEF2D

chr19:1422396

chr1:156446996

ENST00000360595

3_57

221.33333333333334

515.0

Domain

MADS-box

Tgene

MEF2D

chr19:1422396

chr1:156446996

ENST00000368240

3_57

221.33333333333334

515.0

Domain

MADS-box

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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 >>>948_DAZAP1_1422396_MEF2D_156446996_948_DAZAP1_1422396_MEF2D_156446996_ranked_0.pdb	DAZAP1	1422396	1422396	ENST00000360595	MEF2D	chr1	156446996	-	MNNSGADEIGKLFVGGLDWSTTQETLRSYFSQYGEVVDCVIMKDKTTNQSRGFGFVKFKDPNCVGTVLASRPHTLDGRNIDPKPCTPRGM QPERTRPKEGWQKGPRSDNSKSNKIFVGGIPHNCGETELREYFKKFGVVTEVVMIYDAEKQRPRGNGYVSARASPGLLPVANGNSLNKVI PAKSPPPPTHSTQLGAPSRKPDLRVITSQAGKGLMHHLTEDHLDLNNAQRLGVSQSTHSLTTPVVSVATPSLLSQGLPFSSMPTAYNTDY QLTSAELSSLPAFSSPGGLSLGNVTAWQQPQQPQQPQQPQPPQQQPPQPQQPQPQQPQQPQQPPQQQSHLVPVSLSNLIPGSPLPHVGAA LTVTTHPHISIKSEPVSPSRERSPAPPPPAVFPAARPEPGDGLSSPAGGSYETGDRDDGRGDFGPTLGLLRPAPEPEAEGSAVKRMRLDT	454

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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.

DAZAP1_pLDDT.png

MEF2D_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

MEF2D

YWHAQ, HDAC5, HDAC4, EP300, CABIN1, NFATC2, SP1, MAPK7, MEF2A, SNCA, CARM1, PRMT5, MAPK14, COPS5, HDAC3, KAT2B, SENP3, PRKACA, ASH2L, MEN1, RBBP5, KMT2D, HIRA, HDAC1, ASCL1, APP, CDK6, SHMT2, MOV10, NXF1, SKP2, Cdk4, FUS, XPO1, JUN, DNMT3L, MEF2B, FBXO7, PPP1CA, LOC284930, THOC1, SMG7, TRIM37, ASF1A, TERF2IP, BAG2, MEF2BNB-MEF2B, WRAP53, TAX1BP3, HSPA8, ERG, HNF1B, IRF4, KLF16, KLF3, KLF5, KLF8, LHX1, LHX2, LHX3, LHX4, PAX7, PAX8, PAX9, SOX2, SOX6, SP7, TEAD1, TLX1,

Protein-protein interactors based on sequence similarity (STRING)

Gene	STRING network
DAZAP1
MEF2D

- 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 DAZAP1-MEF2D

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 DAZAP1-MEF2D

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
Hgene	DAZAP1	C0005586	Bipolar Disorder	1	PSYGENET
Hgene	DAZAP1	C0036341	Schizophrenia	1	PSYGENET
Tgene	MEF2D	C0338480	Common Migraine	1	CTD_human