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	Fusion Gene Summary
	Fusion Gene Sample Information
	Fusion ORF Analysis
	Fusion Amino Acid Sequences
	Fusion Protein Functional Features
	Fusion Protein-Protein Interaction
	Related drugs with this fusion protein
	Related disease with this fusion protein

Fusion Protein:MYO5A-GALK2

Fusion Protein Summary

Fusion gene summary

Fusion partner gene information	Fusion gene name: MYO5A-GALK2
	FusionPDB ID: 56708
	FusionGDB2.0 ID: 56708
		Hgene	Tgene
	Gene symbol	MYO5A	GALK2
	Gene ID	4644	2585
	Gene name	myosin VA	galactokinase 2
	Synonyms	GS1\|MYH12\|MYO5\|MYR12	GK2
	Cytomap	15q21.2	15q21.1-q21.2
	Type of gene	protein-coding	protein-coding
	Description	unconventional myosin-Vadilute myosin heavy chain, non-musclemyosin Vmyosin VA (heavy chain 12, myoxin)myosin, heavy polypeptide kinasemyosin-12myosin-Vamyoxin	N-acetylgalactosamine kinasegalNAc kinase
	Modification date	20200313	20200313
	UniProtAcc	Q9Y4I1	Q01415
Ensembl transtripts involved in fusion gene	ENST ids	ENST00000356338, ENST00000399231, ENST00000399233, ENST00000553916, ENST00000358212,	ENST00000561014, ENST00000327171, ENST00000396509, ENST00000543495, ENST00000544523, ENST00000559454, ENST00000560031,
Fusion gene scores for assessment (based on all fusion genes of FusionGDB 2.0)	* DoF score	13 X 13 X 6=1014	9 X 8 X 5=360
	# samples	12	10
	** MAII score	log2(12/1014*10)=-3.07895134139482 possibly effective Gene in Pan-Cancer Fusion Genes (peGinPCFGs). DoF>8 and MAII<0	log2(10/360*10)=-1.84799690655495 possibly effective Gene in Pan-Cancer Fusion Genes (peGinPCFGs). DoF>8 and MAII<0
Context (manual curation of fusion genes in FusionPDB)	PubMed: MYO5A [Title/Abstract] AND GALK2 [Title/Abstract] AND fusion [Title/Abstract]
Most frequent breakpoint (based on all fusion genes of FusionGDB 2.0)	MYO5A(52820977)-GALK2(49574184), # samples:1
Anticipated loss of major functional domain due to fusion event.	MYO5A-GALK2 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. MYO5A-GALK2 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. MYO5A-GALK2 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. MYO5A-GALK2 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

Fusion gene breakpoints across MYO5A (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 GALK2 (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	SARC	TCGA-DX-AB2W-01A	MYO5A	chr15	52820977	-	GALK2	chr15	49574184	+

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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)
ENST00000399231	MYO5A	chr15	52820977	-	ENST00000327171	GALK2	chr15	49574184	+	2790	271	244	1143	299
ENST00000399231	MYO5A	chr15	52820977	-	ENST00000560031	GALK2	chr15	49574184	+	1503	271	244	1143	299
ENST00000399231	MYO5A	chr15	52820977	-	ENST00000396509	GALK2	chr15	49574184	+	1499	271	244	1143	299
ENST00000399231	MYO5A	chr15	52820977	-	ENST00000543495	GALK2	chr15	49574184	+	1659	271	731	1288	185
ENST00000399231	MYO5A	chr15	52820977	-	ENST00000544523	GALK2	chr15	49574184	+	1546	271	244	1143	299
ENST00000399231	MYO5A	chr15	52820977	-	ENST00000559454	GALK2	chr15	49574184	+	1488	271	244	1143	299
ENST00000356338	MYO5A	chr15	52820977	-	ENST00000327171	GALK2	chr15	49574184	+	2620	101	74	973	299
ENST00000356338	MYO5A	chr15	52820977	-	ENST00000560031	GALK2	chr15	49574184	+	1333	101	74	973	299
ENST00000356338	MYO5A	chr15	52820977	-	ENST00000396509	GALK2	chr15	49574184	+	1329	101	74	973	299
ENST00000356338	MYO5A	chr15	52820977	-	ENST00000543495	GALK2	chr15	49574184	+	1489	101	561	1118	185
ENST00000356338	MYO5A	chr15	52820977	-	ENST00000544523	GALK2	chr15	49574184	+	1376	101	74	973	299
ENST00000356338	MYO5A	chr15	52820977	-	ENST00000559454	GALK2	chr15	49574184	+	1318	101	74	973	299
ENST00000399233	MYO5A	chr15	52820977	-	ENST00000327171	GALK2	chr15	49574184	+	2790	271	244	1143	299
ENST00000399233	MYO5A	chr15	52820977	-	ENST00000560031	GALK2	chr15	49574184	+	1503	271	244	1143	299
ENST00000399233	MYO5A	chr15	52820977	-	ENST00000396509	GALK2	chr15	49574184	+	1499	271	244	1143	299
ENST00000399233	MYO5A	chr15	52820977	-	ENST00000543495	GALK2	chr15	49574184	+	1659	271	731	1288	185
ENST00000399233	MYO5A	chr15	52820977	-	ENST00000544523	GALK2	chr15	49574184	+	1546	271	244	1143	299
ENST00000399233	MYO5A	chr15	52820977	-	ENST00000559454	GALK2	chr15	49574184	+	1488	271	244	1143	299
ENST00000553916	MYO5A	chr15	52820977	-	ENST00000327171	GALK2	chr15	49574184	+	2581	62	35	934	299
ENST00000553916	MYO5A	chr15	52820977	-	ENST00000560031	GALK2	chr15	49574184	+	1294	62	35	934	299
ENST00000553916	MYO5A	chr15	52820977	-	ENST00000396509	GALK2	chr15	49574184	+	1290	62	35	934	299
ENST00000553916	MYO5A	chr15	52820977	-	ENST00000543495	GALK2	chr15	49574184	+	1450	62	522	1079	185
ENST00000553916	MYO5A	chr15	52820977	-	ENST00000544523	GALK2	chr15	49574184	+	1337	62	35	934	299
ENST00000553916	MYO5A	chr15	52820977	-	ENST00000559454	GALK2	chr15	49574184	+	1279	62	35	934	299

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
ENST00000399231	ENST00000327171	MYO5A	chr15	52820977	-	GALK2	chr15	49574184	+	0.000638051	0.99936193
ENST00000399231	ENST00000560031	MYO5A	chr15	52820977	-	GALK2	chr15	49574184	+	0.003200456	0.99679947
ENST00000399231	ENST00000396509	MYO5A	chr15	52820977	-	GALK2	chr15	49574184	+	0.003242734	0.9967572
ENST00000399231	ENST00000543495	MYO5A	chr15	52820977	-	GALK2	chr15	49574184	+	0.032868277	0.9671318
ENST00000399231	ENST00000544523	MYO5A	chr15	52820977	-	GALK2	chr15	49574184	+	0.003235508	0.9967644
ENST00000399231	ENST00000559454	MYO5A	chr15	52820977	-	GALK2	chr15	49574184	+	0.003479905	0.99652004
ENST00000356338	ENST00000327171	MYO5A	chr15	52820977	-	GALK2	chr15	49574184	+	0.000550509	0.99944943
ENST00000356338	ENST00000560031	MYO5A	chr15	52820977	-	GALK2	chr15	49574184	+	0.00239736	0.99760264
ENST00000356338	ENST00000396509	MYO5A	chr15	52820977	-	GALK2	chr15	49574184	+	0.002447881	0.9975521
ENST00000356338	ENST00000543495	MYO5A	chr15	52820977	-	GALK2	chr15	49574184	+	0.03452996	0.96547
ENST00000356338	ENST00000544523	MYO5A	chr15	52820977	-	GALK2	chr15	49574184	+	0.002537333	0.99746263
ENST00000356338	ENST00000559454	MYO5A	chr15	52820977	-	GALK2	chr15	49574184	+	0.002700255	0.99729973
ENST00000399233	ENST00000327171	MYO5A	chr15	52820977	-	GALK2	chr15	49574184	+	0.000638051	0.99936193
ENST00000399233	ENST00000560031	MYO5A	chr15	52820977	-	GALK2	chr15	49574184	+	0.003200456	0.99679947
ENST00000399233	ENST00000396509	MYO5A	chr15	52820977	-	GALK2	chr15	49574184	+	0.003242734	0.9967572
ENST00000399233	ENST00000543495	MYO5A	chr15	52820977	-	GALK2	chr15	49574184	+	0.032868277	0.9671318
ENST00000399233	ENST00000544523	MYO5A	chr15	52820977	-	GALK2	chr15	49574184	+	0.003235508	0.9967644
ENST00000399233	ENST00000559454	MYO5A	chr15	52820977	-	GALK2	chr15	49574184	+	0.003479905	0.99652004
ENST00000553916	ENST00000327171	MYO5A	chr15	52820977	-	GALK2	chr15	49574184	+	0.000594721	0.99940526
ENST00000553916	ENST00000560031	MYO5A	chr15	52820977	-	GALK2	chr15	49574184	+	0.002569358	0.9974306
ENST00000553916	ENST00000396509	MYO5A	chr15	52820977	-	GALK2	chr15	49574184	+	0.002629036	0.99737096
ENST00000553916	ENST00000543495	MYO5A	chr15	52820977	-	GALK2	chr15	49574184	+	0.03926798	0.96073204
ENST00000553916	ENST00000544523	MYO5A	chr15	52820977	-	GALK2	chr15	49574184	+	0.002677281	0.99732274
ENST00000553916	ENST00000559454	MYO5A	chr15	52820977	-	GALK2	chr15	49574184	+	0.002894187	0.9971058

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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

>56708_56708_1_MYO5A-GALK2_MYO5A_chr15_52820977_ENST00000356338_GALK2_chr15_49574184_ENST00000327171_length(amino acids)=299AA_BP=9
MAASELYTKVELAEICAKSERYIGTEGGGMDQSISFLAEEGTAKLIEFSPLRATDVKLPSGAVFVIANSCVEMNKAATSHFNIRVMECRL
AAKLLAKYKSLQWDKVLRLEEVQAKLGISLEEMLLVTEDALHPEPYNPEEICRCLGISLEELRTQILSPNTQDVLIFKLYQRAKHVYSEA
ARVLQFKKICEEAPENMVQLLGELMNQSHMSCRDMYECSCPELDQLVDICRKFGAQGSRLTGAGWGGCTVSMVPADKLPSFLANVHKAYY

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

>56708_56708_2_MYO5A-GALK2_MYO5A_chr15_52820977_ENST00000356338_GALK2_chr15_49574184_ENST00000396509_length(amino acids)=299AA_BP=9
MAASELYTKVELAEICAKSERYIGTEGGGMDQSISFLAEEGTAKLIEFSPLRATDVKLPSGAVFVIANSCVEMNKAATSHFNIRVMECRL
AAKLLAKYKSLQWDKVLRLEEVQAKLGISLEEMLLVTEDALHPEPYNPEEICRCLGISLEELRTQILSPNTQDVLIFKLYQRAKHVYSEA
ARVLQFKKICEEAPENMVQLLGELMNQSHMSCRDMYECSCPELDQLVDICRKFGAQGSRLTGAGWGGCTVSMVPADKLPSFLANVHKAYY

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

>56708_56708_3_MYO5A-GALK2_MYO5A_chr15_52820977_ENST00000356338_GALK2_chr15_49574184_ENST00000543495_length(amino acids)=185AA_BP=
MTESCSIAQAGVQRRDLSSLQPLPPRFKQFSHFSLSNSWDYMHPPSSCPVLIFKLYQRAKHVYSEAARVLQFKKICEEAPENMVQLLGEL
MNQSHMSCRDMYECSCPELDQLVDICRKFGAQGSRLTGAGWGGCTVSMVPADKLPSFLANVHKAYYQRSDGSLAPEKQSLFATKPGGGAL

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

>56708_56708_4_MYO5A-GALK2_MYO5A_chr15_52820977_ENST00000356338_GALK2_chr15_49574184_ENST00000544523_length(amino acids)=299AA_BP=9
MAASELYTKVELAEICAKSERYIGTEGGGMDQSISFLAEEGTAKLIEFSPLRATDVKLPSGAVFVIANSCVEMNKAATSHFNIRVMECRL
AAKLLAKYKSLQWDKVLRLEEVQAKLGISLEEMLLVTEDALHPEPYNPEEICRCLGISLEELRTQILSPNTQDVLIFKLYQRAKHVYSEA
ARVLQFKKICEEAPENMVQLLGELMNQSHMSCRDMYECSCPELDQLVDICRKFGAQGSRLTGAGWGGCTVSMVPADKLPSFLANVHKAYY

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

>56708_56708_5_MYO5A-GALK2_MYO5A_chr15_52820977_ENST00000356338_GALK2_chr15_49574184_ENST00000559454_length(amino acids)=299AA_BP=9
MAASELYTKVELAEICAKSERYIGTEGGGMDQSISFLAEEGTAKLIEFSPLRATDVKLPSGAVFVIANSCVEMNKAATSHFNIRVMECRL
AAKLLAKYKSLQWDKVLRLEEVQAKLGISLEEMLLVTEDALHPEPYNPEEICRCLGISLEELRTQILSPNTQDVLIFKLYQRAKHVYSEA
ARVLQFKKICEEAPENMVQLLGELMNQSHMSCRDMYECSCPELDQLVDICRKFGAQGSRLTGAGWGGCTVSMVPADKLPSFLANVHKAYY

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

>56708_56708_6_MYO5A-GALK2_MYO5A_chr15_52820977_ENST00000356338_GALK2_chr15_49574184_ENST00000560031_length(amino acids)=299AA_BP=9
MAASELYTKVELAEICAKSERYIGTEGGGMDQSISFLAEEGTAKLIEFSPLRATDVKLPSGAVFVIANSCVEMNKAATSHFNIRVMECRL
AAKLLAKYKSLQWDKVLRLEEVQAKLGISLEEMLLVTEDALHPEPYNPEEICRCLGISLEELRTQILSPNTQDVLIFKLYQRAKHVYSEA
ARVLQFKKICEEAPENMVQLLGELMNQSHMSCRDMYECSCPELDQLVDICRKFGAQGSRLTGAGWGGCTVSMVPADKLPSFLANVHKAYY

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

>56708_56708_7_MYO5A-GALK2_MYO5A_chr15_52820977_ENST00000399231_GALK2_chr15_49574184_ENST00000327171_length(amino acids)=299AA_BP=9
MAASELYTKVELAEICAKSERYIGTEGGGMDQSISFLAEEGTAKLIEFSPLRATDVKLPSGAVFVIANSCVEMNKAATSHFNIRVMECRL
AAKLLAKYKSLQWDKVLRLEEVQAKLGISLEEMLLVTEDALHPEPYNPEEICRCLGISLEELRTQILSPNTQDVLIFKLYQRAKHVYSEA
ARVLQFKKICEEAPENMVQLLGELMNQSHMSCRDMYECSCPELDQLVDICRKFGAQGSRLTGAGWGGCTVSMVPADKLPSFLANVHKAYY

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

>56708_56708_8_MYO5A-GALK2_MYO5A_chr15_52820977_ENST00000399231_GALK2_chr15_49574184_ENST00000396509_length(amino acids)=299AA_BP=9
MAASELYTKVELAEICAKSERYIGTEGGGMDQSISFLAEEGTAKLIEFSPLRATDVKLPSGAVFVIANSCVEMNKAATSHFNIRVMECRL
AAKLLAKYKSLQWDKVLRLEEVQAKLGISLEEMLLVTEDALHPEPYNPEEICRCLGISLEELRTQILSPNTQDVLIFKLYQRAKHVYSEA
ARVLQFKKICEEAPENMVQLLGELMNQSHMSCRDMYECSCPELDQLVDICRKFGAQGSRLTGAGWGGCTVSMVPADKLPSFLANVHKAYY

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

>56708_56708_9_MYO5A-GALK2_MYO5A_chr15_52820977_ENST00000399231_GALK2_chr15_49574184_ENST00000543495_length(amino acids)=185AA_BP=
MTESCSIAQAGVQRRDLSSLQPLPPRFKQFSHFSLSNSWDYMHPPSSCPVLIFKLYQRAKHVYSEAARVLQFKKICEEAPENMVQLLGEL
MNQSHMSCRDMYECSCPELDQLVDICRKFGAQGSRLTGAGWGGCTVSMVPADKLPSFLANVHKAYYQRSDGSLAPEKQSLFATKPGGGAL

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

>56708_56708_10_MYO5A-GALK2_MYO5A_chr15_52820977_ENST00000399231_GALK2_chr15_49574184_ENST00000544523_length(amino acids)=299AA_BP=9
MAASELYTKVELAEICAKSERYIGTEGGGMDQSISFLAEEGTAKLIEFSPLRATDVKLPSGAVFVIANSCVEMNKAATSHFNIRVMECRL
AAKLLAKYKSLQWDKVLRLEEVQAKLGISLEEMLLVTEDALHPEPYNPEEICRCLGISLEELRTQILSPNTQDVLIFKLYQRAKHVYSEA
ARVLQFKKICEEAPENMVQLLGELMNQSHMSCRDMYECSCPELDQLVDICRKFGAQGSRLTGAGWGGCTVSMVPADKLPSFLANVHKAYY

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

>56708_56708_11_MYO5A-GALK2_MYO5A_chr15_52820977_ENST00000399231_GALK2_chr15_49574184_ENST00000559454_length(amino acids)=299AA_BP=9
MAASELYTKVELAEICAKSERYIGTEGGGMDQSISFLAEEGTAKLIEFSPLRATDVKLPSGAVFVIANSCVEMNKAATSHFNIRVMECRL
AAKLLAKYKSLQWDKVLRLEEVQAKLGISLEEMLLVTEDALHPEPYNPEEICRCLGISLEELRTQILSPNTQDVLIFKLYQRAKHVYSEA
ARVLQFKKICEEAPENMVQLLGELMNQSHMSCRDMYECSCPELDQLVDICRKFGAQGSRLTGAGWGGCTVSMVPADKLPSFLANVHKAYY

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

>56708_56708_12_MYO5A-GALK2_MYO5A_chr15_52820977_ENST00000399231_GALK2_chr15_49574184_ENST00000560031_length(amino acids)=299AA_BP=9
MAASELYTKVELAEICAKSERYIGTEGGGMDQSISFLAEEGTAKLIEFSPLRATDVKLPSGAVFVIANSCVEMNKAATSHFNIRVMECRL
AAKLLAKYKSLQWDKVLRLEEVQAKLGISLEEMLLVTEDALHPEPYNPEEICRCLGISLEELRTQILSPNTQDVLIFKLYQRAKHVYSEA
ARVLQFKKICEEAPENMVQLLGELMNQSHMSCRDMYECSCPELDQLVDICRKFGAQGSRLTGAGWGGCTVSMVPADKLPSFLANVHKAYY

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

>56708_56708_13_MYO5A-GALK2_MYO5A_chr15_52820977_ENST00000399233_GALK2_chr15_49574184_ENST00000327171_length(amino acids)=299AA_BP=9
MAASELYTKVELAEICAKSERYIGTEGGGMDQSISFLAEEGTAKLIEFSPLRATDVKLPSGAVFVIANSCVEMNKAATSHFNIRVMECRL
AAKLLAKYKSLQWDKVLRLEEVQAKLGISLEEMLLVTEDALHPEPYNPEEICRCLGISLEELRTQILSPNTQDVLIFKLYQRAKHVYSEA
ARVLQFKKICEEAPENMVQLLGELMNQSHMSCRDMYECSCPELDQLVDICRKFGAQGSRLTGAGWGGCTVSMVPADKLPSFLANVHKAYY

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

>56708_56708_14_MYO5A-GALK2_MYO5A_chr15_52820977_ENST00000399233_GALK2_chr15_49574184_ENST00000396509_length(amino acids)=299AA_BP=9
MAASELYTKVELAEICAKSERYIGTEGGGMDQSISFLAEEGTAKLIEFSPLRATDVKLPSGAVFVIANSCVEMNKAATSHFNIRVMECRL
AAKLLAKYKSLQWDKVLRLEEVQAKLGISLEEMLLVTEDALHPEPYNPEEICRCLGISLEELRTQILSPNTQDVLIFKLYQRAKHVYSEA
ARVLQFKKICEEAPENMVQLLGELMNQSHMSCRDMYECSCPELDQLVDICRKFGAQGSRLTGAGWGGCTVSMVPADKLPSFLANVHKAYY

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

>56708_56708_15_MYO5A-GALK2_MYO5A_chr15_52820977_ENST00000399233_GALK2_chr15_49574184_ENST00000543495_length(amino acids)=185AA_BP=
MTESCSIAQAGVQRRDLSSLQPLPPRFKQFSHFSLSNSWDYMHPPSSCPVLIFKLYQRAKHVYSEAARVLQFKKICEEAPENMVQLLGEL
MNQSHMSCRDMYECSCPELDQLVDICRKFGAQGSRLTGAGWGGCTVSMVPADKLPSFLANVHKAYYQRSDGSLAPEKQSLFATKPGGGAL

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

>56708_56708_16_MYO5A-GALK2_MYO5A_chr15_52820977_ENST00000399233_GALK2_chr15_49574184_ENST00000544523_length(amino acids)=299AA_BP=9
MAASELYTKVELAEICAKSERYIGTEGGGMDQSISFLAEEGTAKLIEFSPLRATDVKLPSGAVFVIANSCVEMNKAATSHFNIRVMECRL
AAKLLAKYKSLQWDKVLRLEEVQAKLGISLEEMLLVTEDALHPEPYNPEEICRCLGISLEELRTQILSPNTQDVLIFKLYQRAKHVYSEA
ARVLQFKKICEEAPENMVQLLGELMNQSHMSCRDMYECSCPELDQLVDICRKFGAQGSRLTGAGWGGCTVSMVPADKLPSFLANVHKAYY

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

>56708_56708_17_MYO5A-GALK2_MYO5A_chr15_52820977_ENST00000399233_GALK2_chr15_49574184_ENST00000559454_length(amino acids)=299AA_BP=9
MAASELYTKVELAEICAKSERYIGTEGGGMDQSISFLAEEGTAKLIEFSPLRATDVKLPSGAVFVIANSCVEMNKAATSHFNIRVMECRL
AAKLLAKYKSLQWDKVLRLEEVQAKLGISLEEMLLVTEDALHPEPYNPEEICRCLGISLEELRTQILSPNTQDVLIFKLYQRAKHVYSEA
ARVLQFKKICEEAPENMVQLLGELMNQSHMSCRDMYECSCPELDQLVDICRKFGAQGSRLTGAGWGGCTVSMVPADKLPSFLANVHKAYY

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

>56708_56708_18_MYO5A-GALK2_MYO5A_chr15_52820977_ENST00000399233_GALK2_chr15_49574184_ENST00000560031_length(amino acids)=299AA_BP=9
MAASELYTKVELAEICAKSERYIGTEGGGMDQSISFLAEEGTAKLIEFSPLRATDVKLPSGAVFVIANSCVEMNKAATSHFNIRVMECRL
AAKLLAKYKSLQWDKVLRLEEVQAKLGISLEEMLLVTEDALHPEPYNPEEICRCLGISLEELRTQILSPNTQDVLIFKLYQRAKHVYSEA
ARVLQFKKICEEAPENMVQLLGELMNQSHMSCRDMYECSCPELDQLVDICRKFGAQGSRLTGAGWGGCTVSMVPADKLPSFLANVHKAYY

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

>56708_56708_19_MYO5A-GALK2_MYO5A_chr15_52820977_ENST00000553916_GALK2_chr15_49574184_ENST00000327171_length(amino acids)=299AA_BP=9
MAASELYTKVELAEICAKSERYIGTEGGGMDQSISFLAEEGTAKLIEFSPLRATDVKLPSGAVFVIANSCVEMNKAATSHFNIRVMECRL
AAKLLAKYKSLQWDKVLRLEEVQAKLGISLEEMLLVTEDALHPEPYNPEEICRCLGISLEELRTQILSPNTQDVLIFKLYQRAKHVYSEA
ARVLQFKKICEEAPENMVQLLGELMNQSHMSCRDMYECSCPELDQLVDICRKFGAQGSRLTGAGWGGCTVSMVPADKLPSFLANVHKAYY

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

>56708_56708_20_MYO5A-GALK2_MYO5A_chr15_52820977_ENST00000553916_GALK2_chr15_49574184_ENST00000396509_length(amino acids)=299AA_BP=9
MAASELYTKVELAEICAKSERYIGTEGGGMDQSISFLAEEGTAKLIEFSPLRATDVKLPSGAVFVIANSCVEMNKAATSHFNIRVMECRL
AAKLLAKYKSLQWDKVLRLEEVQAKLGISLEEMLLVTEDALHPEPYNPEEICRCLGISLEELRTQILSPNTQDVLIFKLYQRAKHVYSEA
ARVLQFKKICEEAPENMVQLLGELMNQSHMSCRDMYECSCPELDQLVDICRKFGAQGSRLTGAGWGGCTVSMVPADKLPSFLANVHKAYY

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

>56708_56708_21_MYO5A-GALK2_MYO5A_chr15_52820977_ENST00000553916_GALK2_chr15_49574184_ENST00000543495_length(amino acids)=185AA_BP=
MTESCSIAQAGVQRRDLSSLQPLPPRFKQFSHFSLSNSWDYMHPPSSCPVLIFKLYQRAKHVYSEAARVLQFKKICEEAPENMVQLLGEL
MNQSHMSCRDMYECSCPELDQLVDICRKFGAQGSRLTGAGWGGCTVSMVPADKLPSFLANVHKAYYQRSDGSLAPEKQSLFATKPGGGAL

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

>56708_56708_22_MYO5A-GALK2_MYO5A_chr15_52820977_ENST00000553916_GALK2_chr15_49574184_ENST00000544523_length(amino acids)=299AA_BP=9
MAASELYTKVELAEICAKSERYIGTEGGGMDQSISFLAEEGTAKLIEFSPLRATDVKLPSGAVFVIANSCVEMNKAATSHFNIRVMECRL
AAKLLAKYKSLQWDKVLRLEEVQAKLGISLEEMLLVTEDALHPEPYNPEEICRCLGISLEELRTQILSPNTQDVLIFKLYQRAKHVYSEA
ARVLQFKKICEEAPENMVQLLGELMNQSHMSCRDMYECSCPELDQLVDICRKFGAQGSRLTGAGWGGCTVSMVPADKLPSFLANVHKAYY

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

>56708_56708_23_MYO5A-GALK2_MYO5A_chr15_52820977_ENST00000553916_GALK2_chr15_49574184_ENST00000559454_length(amino acids)=299AA_BP=9
MAASELYTKVELAEICAKSERYIGTEGGGMDQSISFLAEEGTAKLIEFSPLRATDVKLPSGAVFVIANSCVEMNKAATSHFNIRVMECRL
AAKLLAKYKSLQWDKVLRLEEVQAKLGISLEEMLLVTEDALHPEPYNPEEICRCLGISLEELRTQILSPNTQDVLIFKLYQRAKHVYSEA
ARVLQFKKICEEAPENMVQLLGELMNQSHMSCRDMYECSCPELDQLVDICRKFGAQGSRLTGAGWGGCTVSMVPADKLPSFLANVHKAYY

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

>56708_56708_24_MYO5A-GALK2_MYO5A_chr15_52820977_ENST00000553916_GALK2_chr15_49574184_ENST00000560031_length(amino acids)=299AA_BP=9
MAASELYTKVELAEICAKSERYIGTEGGGMDQSISFLAEEGTAKLIEFSPLRATDVKLPSGAVFVIANSCVEMNKAATSHFNIRVMECRL
AAKLLAKYKSLQWDKVLRLEEVQAKLGISLEEMLLVTEDALHPEPYNPEEICRCLGISLEELRTQILSPNTQDVLIFKLYQRAKHVYSEA
ARVLQFKKICEEAPENMVQLLGELMNQSHMSCRDMYECSCPELDQLVDICRKFGAQGSRLTGAGWGGCTVSMVPADKLPSFLANVHKAYY

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

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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/chr15:52820977/chr15:49574184)
- 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
MYO5A Q9Y4I1	GALK2 Q01415
FUNCTION: Processive actin-based motor that can move in large steps approximating the 36-nm pseudo-repeat of the actin filament. Involved in melanosome transport. Also mediates the transport of vesicles to the plasma membrane. May also be required for some polarization process involved in dendrite formation. {ECO:0000269\|PubMed:10448864}.	FUNCTION: Acts on GalNAc. Also acts as a galactokinase when galactose is present at high concentrations. May be involved in a salvage pathway for the reutilization of free GalNAc derived from the degradation of complex carbohydrates. {ECO:0000269\|PubMed:16006554}.

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

GALK2

chr15:52820977

chr15:49574184

ENST00000327171

187_190

157.0

448.0

Region

Note=Substrate binding

Tgene

GALK2

chr15:52820977

chr15:49574184

ENST00000560031

187_190

168.0

459.0

Region

Note=Substrate binding

- 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

MYO5A

chr15:52820977

chr15:49574184

ENST00000356338

1338_1445

9.0

1829.0

Coiled coil

Ontology_term=ECO:0000255

Hgene

MYO5A

chr15:52820977

chr15:49574184

ENST00000356338

914_1237

9.0

1829.0

Coiled coil

Ontology_term=ECO:0000255

Hgene

MYO5A

chr15:52820977

chr15:49574184

ENST00000399231

1338_1445

9.0

1856.0

Coiled coil

Ontology_term=ECO:0000255

Hgene

MYO5A

chr15:52820977

chr15:49574184

ENST00000399231

914_1237

9.0

1856.0

Coiled coil

Ontology_term=ECO:0000255

Hgene

MYO5A

chr15:52820977

chr15:49574184

ENST00000356338

1534_1810

9.0

1829.0

Domain

Dilute

Hgene

MYO5A

chr15:52820977

chr15:49574184

ENST00000356338

69_763

9.0

1829.0

Domain

Myosin motor

Hgene

MYO5A

chr15:52820977

chr15:49574184

ENST00000356338

766_788

9.0

1829.0

Domain

IQ 1

Hgene

MYO5A

chr15:52820977

chr15:49574184

ENST00000356338

789_818

9.0

1829.0

Domain

IQ 2

Hgene

MYO5A

chr15:52820977

chr15:49574184

ENST00000356338

814_836

9.0

1829.0

Domain

IQ 3

Hgene

MYO5A

chr15:52820977

chr15:49574184

ENST00000356338

837_861

9.0

1829.0

Domain

IQ 4

Hgene

MYO5A

chr15:52820977

chr15:49574184

ENST00000356338

862_883

9.0

1829.0

Domain

IQ 5

Hgene

MYO5A

chr15:52820977

chr15:49574184

ENST00000356338

885_914

9.0

1829.0

Domain

IQ 6

Hgene

MYO5A

chr15:52820977

chr15:49574184

ENST00000356338

8_60

9.0

1829.0

Domain

Myosin N-terminal SH3-like

Hgene

MYO5A

chr15:52820977

chr15:49574184

ENST00000399231

1534_1810

9.0

1856.0

Domain

Dilute

Hgene

MYO5A

chr15:52820977

chr15:49574184

ENST00000399231

69_763

9.0

1856.0

Domain

Myosin motor

Hgene

MYO5A

chr15:52820977

chr15:49574184

ENST00000399231

766_788

9.0

1856.0

Domain

IQ 1

Hgene

MYO5A

chr15:52820977

chr15:49574184

ENST00000399231

789_818

9.0

1856.0

Domain

IQ 2

Hgene

MYO5A

chr15:52820977

chr15:49574184

ENST00000399231

814_836

9.0

1856.0

Domain

IQ 3

Hgene

MYO5A

chr15:52820977

chr15:49574184

ENST00000399231

837_861

9.0

1856.0

Domain

IQ 4

Hgene

MYO5A

chr15:52820977

chr15:49574184

ENST00000399231

862_883

9.0

1856.0

Domain

IQ 5

Hgene

MYO5A

chr15:52820977

chr15:49574184

ENST00000399231

885_914

9.0

1856.0

Domain

IQ 6

Hgene

MYO5A

chr15:52820977

chr15:49574184

ENST00000399231

8_60

9.0

1856.0

Domain

Myosin N-terminal SH3-like

Hgene

MYO5A

chr15:52820977

chr15:49574184

ENST00000356338

163_170

9.0

1829.0

Nucleotide binding

ATP

Hgene

MYO5A

chr15:52820977

chr15:49574184

ENST00000399231

163_170

9.0

1856.0

Nucleotide binding

ATP

Hgene

MYO5A

chr15:52820977

chr15:49574184

ENST00000356338

643_665

9.0

1829.0

Region

Actin-binding

Hgene

MYO5A

chr15:52820977

chr15:49574184

ENST00000399231

643_665

9.0

1856.0

Region

Actin-binding

Tgene

GALK2

chr15:52820977

chr15:49574184

ENST00000327171

139_149

157.0

448.0

Nucleotide binding

ATP

Tgene

GALK2

chr15:52820977

chr15:49574184

ENST00000560031

139_149

168.0

459.0

Nucleotide binding

ATP

Tgene

GALK2

chr15:52820977

chr15:49574184

ENST00000327171

49_52

157.0

448.0

Region

Note=Substrate binding

Tgene

GALK2

chr15:52820977

chr15:49574184

ENST00000560031

49_52

168.0

459.0

Region

Note=Substrate binding

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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

MYO5A

MLPH, DYNLL2, DLGAP1, DYNLL1, SHANK2, RAB27A, BMF, EXOC3, EXOC4, EXOC6, SIRT7, FBXO25, HGS, TRIM3, GRIA2, GRIA1, PAN2, CCDC8, PEX19, CREB3, SCP2, DTNBP1, MYH11, CAPZA2, MYO1E, PLS3, NTRK1, CDK2, DBN1, FLNA, MYH9, MYO1C, PPP1CB, IQGAP1, PDLIM7, SYNPO, LIMA1, ANLN, MYO5C, MYO19, MYO18A, Actb, Flot1, Itga5, Myo1c, Ppp1cb, Tpm1, Coro1c, Tmod3, Lima1, Calml3, Myh10, Flnb, FBXW7, SSH1, DKK3, CDH5, TMOD4, UBE2O, TMOD3, EID1, FEZ1, OS9, PPP6R2, MYL2, LRRIQ1, AVIL, FAM160B2, IL20RA, TRIM25, HNRNPL, CALM1, AKAP9, NDEL1, TNF, ESR2, MB21D1, MYC, CDK9, NEK2, KIAA1429, USP14, APEX1, SQSTM1, PLEKHA4, ZC3H18, PRKD1, M, nsp4, nsp6, ORF7b, ESR1, KIF5B, RPH3A, RAB3A, LRRC31, KIF14, KIF23, ARHGEF11, nsp13ab, NINL, NUPR1, DNAJC5, AR, ISG15, EIF6, LAMP1, LAMP2, LAMP3, LAMTOR1, LCK, PEX3, PFN1, RAB11A, RAB2A, RAB35, RAB3B, RAB4A, RAB9A, STX7, TRIM37, ZCCHC10, PBXIP1, INTS4P2, PIPSL, MALL, TRAK1, DPM2, PNMA2, TNNC1, CUL9, WWC1, SH3BGRL, TMEM257, CXCL6, SAAL1, MYL12B, RBX1, GAGE5, LURAP1, PTP4A3, EIF2B5, TRIM52, CASQ2, DTX3, BTF3, nsp1, nsp12, CLEC4D, CLEC4E, PDE4B, FOS,

Protein-protein interactors based on sequence similarity (STRING)

Gene	STRING network
MYO5A
GALK2

- 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 MYO5A-GALK2

Drugs used for this fusion-positive patient.
(Manual curation of PubMed, 04-30-2022 + MyCancerGenome)

Hgene

Tgene

Drug

Source

PMID

Top

Related Diseases to MYO5A-GALK2

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	MYO5A	C1836573	GRISCELLI SYNDROME, TYPE 3	2	GENOMICS_ENGLAND;ORPHANET
Hgene	MYO5A	C0023893	Liver Cirrhosis, Experimental	1	CTD_human
Hgene	MYO5A	C0398794	Hypopigmentation-immunodeficiency disease	1	GENOMICS_ENGLAND
Hgene	MYO5A	C1859194	GRISCELLI SYNDROME, TYPE 1	1	CTD_human;GENOMICS_ENGLAND;ORPHANET
Hgene	MYO5A	C1860157	Elejalde Disease	1	GENOMICS_ENGLAND;ORPHANET
Hgene	MYO5A	C4721453	Peripheral Nervous System Diseases	1	CTD_human