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Center for Computational Systems Medicine
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Fusion Gene Summary

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Fusion Gene ORF analysis

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Fusion Genomic Features

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Fusion Protein Features

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Fusion Gene Sequence

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Fusion Gene PPI analysis

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Related Drugs

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Related Diseases

Fusion gene:ECHDC1-MYO6 (FusionGDB2 ID:24858)

Fusion Gene Summary for ECHDC1-MYO6

check button Fusion gene summary
Fusion gene informationFusion gene name: ECHDC1-MYO6
Fusion gene ID: 24858
HgeneTgene
Gene symbol

ECHDC1

MYO6

Gene ID

55862

4646

Gene nameethylmalonyl-CoA decarboxylase 1myosin VI
SynonymsHEL-S-76|MMCD|dJ351K20.2DFNA22|DFNB37
Cytomap

6q22.33

6q14.1

Type of geneprotein-codingprotein-coding
Descriptionethylmalonyl-CoA decarboxylaseenoyl CoA hydratase domain containing 1enoyl Coenzyme A hydratase domain containing 1enoyl-CoA hydratase domain-containing protein 1epididymis secretory protein Li 76methylmalonyl-CoA decarboxylaseunconventional myosin-VIunconventional myosin-6
Modification date2020031320200313
UniProtAcc.

Q9UM54

Ensembl transtripts involved in fusion geneENST00000454859, ENST00000474289, 
ENST00000528402, ENST00000454591, 
ENST00000368291, ENST00000309620, 
ENST00000430841, ENST00000368289, 
ENST00000531967, ENST00000488087, 
ENST00000369981, ENST00000369985, 
ENST00000369977, ENST00000369975, 
ENST00000462633, 
Fusion gene scores* DoF score7 X 7 X 6=29410 X 12 X 9=1080
# samples 813
** MAII scorelog2(8/294*10)=-1.877744249949
possibly effective Gene in Pan-Cancer Fusion Genes (peGinPCFGs).
DoF>8 and MAII<0		log2(13/1080*10)=-3.05444778402238
possibly effective Gene in Pan-Cancer Fusion Genes (peGinPCFGs).
DoF>8 and MAII<0
Context

PubMed: ECHDC1 [Title/Abstract] AND MYO6 [Title/Abstract] AND fusion [Title/Abstract]

Most frequent breakpointECHDC1(127652055)-MYO6(76599775), # samples:2
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)

check button Gene ontology of each fusion partner gene with evidence of Inferred from Direct Assay (IDA) from Entrez
PartnerGeneGO IDGO termPubMed ID
TgeneMYO6

GO:0030330

DNA damage response, signal transduction by p53 class mediator

16507995


check buttonFusion gene breakpoints across ECHDC1 (5'-gene)
* Click on the image to open the UCSC genome browser with custom track showing this image in a new window.

check buttonFusion gene breakpoints across MYO6 (3'-gene)
* Click on the image to open the UCSC genome browser with custom track showing this image in a new window.

check button 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.
SourceDiseaseSampleHgeneHchrHbpHstrandTgeneTchrTbpTstrand
ChimerDB4LUSCTCGA-63-A5MH-01AECHDC1chr6

127652055

-MYO6chr6

76599775

+
ChimerDB4LUSCTCGA-63-A5MHECHDC1chr6

127652055

-MYO6chr6

76599775

+


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Fusion Gene ORF analysis for ECHDC1-MYO6

check button 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.
ORFHenstTenstHgeneHchrHbpHstrandTgeneTchrTbpTstrand
intron-3CDSENST00000454859ENST00000369981ECHDC1chr6

127652055

-MYO6chr6

76599775

+
intron-3CDSENST00000454859ENST00000369985ECHDC1chr6

127652055

-MYO6chr6

76599775

+
intron-3CDSENST00000454859ENST00000369977ECHDC1chr6

127652055

-MYO6chr6

76599775

+
intron-3CDSENST00000454859ENST00000369975ECHDC1chr6

127652055

-MYO6chr6

76599775

+
intron-intronENST00000454859ENST00000462633ECHDC1chr6

127652055

-MYO6chr6

76599775

+
intron-3CDSENST00000474289ENST00000369981ECHDC1chr6

127652055

-MYO6chr6

76599775

+
intron-3CDSENST00000474289ENST00000369985ECHDC1chr6

127652055

-MYO6chr6

76599775

+
intron-3CDSENST00000474289ENST00000369977ECHDC1chr6

127652055

-MYO6chr6

76599775

+
intron-3CDSENST00000474289ENST00000369975ECHDC1chr6

127652055

-MYO6chr6

76599775

+
intron-intronENST00000474289ENST00000462633ECHDC1chr6

127652055

-MYO6chr6

76599775

+
intron-3CDSENST00000528402ENST00000369981ECHDC1chr6

127652055

-MYO6chr6

76599775

+
intron-3CDSENST00000528402ENST00000369985ECHDC1chr6

127652055

-MYO6chr6

76599775

+
intron-3CDSENST00000528402ENST00000369977ECHDC1chr6

127652055

-MYO6chr6

76599775

+
intron-3CDSENST00000528402ENST00000369975ECHDC1chr6

127652055

-MYO6chr6

76599775

+
intron-intronENST00000528402ENST00000462633ECHDC1chr6

127652055

-MYO6chr6

76599775

+
intron-3CDSENST00000454591ENST00000369981ECHDC1chr6

127652055

-MYO6chr6

76599775

+
intron-3CDSENST00000454591ENST00000369985ECHDC1chr6

127652055

-MYO6chr6

76599775

+
intron-3CDSENST00000454591ENST00000369977ECHDC1chr6

127652055

-MYO6chr6

76599775

+
intron-3CDSENST00000454591ENST00000369975ECHDC1chr6

127652055

-MYO6chr6

76599775

+
intron-intronENST00000454591ENST00000462633ECHDC1chr6

127652055

-MYO6chr6

76599775

+
intron-3CDSENST00000368291ENST00000369981ECHDC1chr6

127652055

-MYO6chr6

76599775

+
intron-3CDSENST00000368291ENST00000369985ECHDC1chr6

127652055

-MYO6chr6

76599775

+
intron-3CDSENST00000368291ENST00000369977ECHDC1chr6

127652055

-MYO6chr6

76599775

+
intron-3CDSENST00000368291ENST00000369975ECHDC1chr6

127652055

-MYO6chr6

76599775

+
intron-intronENST00000368291ENST00000462633ECHDC1chr6

127652055

-MYO6chr6

76599775

+
intron-3CDSENST00000309620ENST00000369981ECHDC1chr6

127652055

-MYO6chr6

76599775

+
intron-3CDSENST00000309620ENST00000369985ECHDC1chr6

127652055

-MYO6chr6

76599775

+
intron-3CDSENST00000309620ENST00000369977ECHDC1chr6

127652055

-MYO6chr6

76599775

+
intron-3CDSENST00000309620ENST00000369975ECHDC1chr6

127652055

-MYO6chr6

76599775

+
intron-intronENST00000309620ENST00000462633ECHDC1chr6

127652055

-MYO6chr6

76599775

+
intron-3CDSENST00000430841ENST00000369981ECHDC1chr6

127652055

-MYO6chr6

76599775

+
intron-3CDSENST00000430841ENST00000369985ECHDC1chr6

127652055

-MYO6chr6

76599775

+
intron-3CDSENST00000430841ENST00000369977ECHDC1chr6

127652055

-MYO6chr6

76599775

+
intron-3CDSENST00000430841ENST00000369975ECHDC1chr6

127652055

-MYO6chr6

76599775

+
intron-intronENST00000430841ENST00000462633ECHDC1chr6

127652055

-MYO6chr6

76599775

+
intron-3CDSENST00000368289ENST00000369981ECHDC1chr6

127652055

-MYO6chr6

76599775

+
intron-3CDSENST00000368289ENST00000369985ECHDC1chr6

127652055

-MYO6chr6

76599775

+
intron-3CDSENST00000368289ENST00000369977ECHDC1chr6

127652055

-MYO6chr6

76599775

+
intron-3CDSENST00000368289ENST00000369975ECHDC1chr6

127652055

-MYO6chr6

76599775

+
intron-intronENST00000368289ENST00000462633ECHDC1chr6

127652055

-MYO6chr6

76599775

+
intron-3CDSENST00000531967ENST00000369981ECHDC1chr6

127652055

-MYO6chr6

76599775

+
intron-3CDSENST00000531967ENST00000369985ECHDC1chr6

127652055

-MYO6chr6

76599775

+
intron-3CDSENST00000531967ENST00000369977ECHDC1chr6

127652055

-MYO6chr6

76599775

+
intron-3CDSENST00000531967ENST00000369975ECHDC1chr6

127652055

-MYO6chr6

76599775

+
intron-intronENST00000531967ENST00000462633ECHDC1chr6

127652055

-MYO6chr6

76599775

+
intron-3CDSENST00000488087ENST00000369981ECHDC1chr6

127652055

-MYO6chr6

76599775

+
intron-3CDSENST00000488087ENST00000369985ECHDC1chr6

127652055

-MYO6chr6

76599775

+
intron-3CDSENST00000488087ENST00000369977ECHDC1chr6

127652055

-MYO6chr6

76599775

+
intron-3CDSENST00000488087ENST00000369975ECHDC1chr6

127652055

-MYO6chr6

76599775

+
intron-intronENST00000488087ENST00000462633ECHDC1chr6

127652055

-MYO6chr6

76599775

+

check buttonORFfinder result based on the fusion transcript sequence of in-frame fusion genes.
HenstTenstHgeneHchrHbpHstrandTgeneTchrTbpTstrandSeq length
(transcript)		BP loci
(transcript)		Predicted start
(transcript)		Predicted stop
(transcript)		Seq length
(amino acids)

check buttonDeepORF 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.
HenstTenstHgeneHchrHbpHstrandTgeneTchrTbpTstrandNo-coding scoreCoding score

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Fusion Genomic Features for ECHDC1-MYO6


check buttonFusionAI 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.
HgeneHchrHbpHstrandTgeneTchrTbpTstrand1-pp (fusion gene breakpoint)

check buttonDistribution 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.

check buttonDistribution 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 ECHDC1-MYO6


check button Go to

FGviewer for the breakpoints of :-:

.
- FGviewer provides the online visualization of the retention search of the protein functional features across DNA, RNA, protein, and pathological levels.
FGviewer

check buttonMain function of each fusion partner protein. (from UniProt)
HgeneTgene
.MYO6

Q9UM54

FUNCTION: Might normally function as a transcriptional repressor. EWS-fusion-proteins (EFPS) may play a role in the tumorigenic process. They may disturb gene expression by mimicking, or interfering with the normal function of CTD-POLII within the transcription initiation complex. They may also contribute to an aberrant activation of the fusion protein target genes.FUNCTION: Myosins are actin-based motor molecules with ATPase activity (By similarity). Unconventional myosins serve in intracellular movements (By similarity). Myosin 6 is a reverse-direction motor protein that moves towards the minus-end of actin filaments (PubMed:10519557). Has slow rate of actin-activated ADP release due to weak ATP binding (By similarity). Functions in a variety of intracellular processes such as vesicular membrane trafficking and cell migration (By similarity). Required for the structural integrity of the Golgi apparatus via the p53-dependent pro-survival pathway (PubMed:16507995). Appears to be involved in a very early step of clathrin-mediated endocytosis in polarized epithelial cells (PubMed:11447109). May act as a regulator of F-actin dynamics (By similarity). As part of the DISP complex, may regulate the association of septins with actin and thereby regulate the actin cytoskeleton (PubMed:29467281). May play a role in transporting DAB2 from the plasma membrane to specific cellular targets (By similarity). May play a role in the extension and network organization of neurites (By similarity). Required for structural integrity of inner ear hair cells (By similarity). Modulates RNA polymerase II-dependent transcription (PubMed:16949370). {ECO:0000250|UniProtKB:Q29122, ECO:0000250|UniProtKB:Q64331, ECO:0000269|PubMed:10519557, ECO:0000269|PubMed:11447109, ECO:0000269|PubMed:16507995, ECO:0000269|PubMed:16949370, ECO:0000269|PubMed:29467281}.

check buttonRetention 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.
PartnerGeneHbpTbpENSTStrandBPexonTotalExonProtein feature loci*BPlociTotalLenProtein featureProtein feature note

- In-frame and not-retained protein feature among the 13 regional features.
PartnerGeneHbpTbpENSTStrandBPexonTotalExonProtein feature loci*BPlociTotalLenProtein featureProtein feature note


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Fusion Gene Sequence for ECHDC1-MYO6


check button 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.

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Fusion Gene PPI Analysis for ECHDC1-MYO6


check button Go to ChiPPI (Chimeric Protein-Protein interactions) to see the chimeric PPI interaction in

ChiPPI page.


check button Protein-protein interactors with each fusion partner protein in wild-type (BIOGRID-3.4.160)
HgeneHgene's interactorsTgeneTgene's interactors


check button - Retained PPIs in in-frame fusion.
PartnerGeneHbpTbpENSTStrandBPexonTotalExonProtein feature loci*BPlociTotalLenStill interaction with


check button - Lost PPIs in in-frame fusion.
PartnerGeneHbpTbpENSTStrandBPexonTotalExonProtein feature loci*BPlociTotalLenInteraction lost with


check button - Retained PPIs, but lost function due to frame-shift fusion.
PartnerGeneHbpTbpENSTStrandBPexonTotalExonProtein feature loci*BPlociTotalLenInteraction lost with


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Related Drugs for ECHDC1-MYO6


check button Drugs targeting genes involved in this fusion gene.
(DrugBank Version 5.1.8 2021-05-08)
PartnerGeneUniProtAccDrugBank IDDrug nameDrug activityDrug typeDrug status

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Related Diseases for ECHDC1-MYO6


check button Diseases associated with fusion partners.
(DisGeNet 4.0)
PartnerGeneDisease IDDisease name# pubmedsSource
HgeneECHDC1C0019193Hepatitis, Toxic1CTD_human
HgeneECHDC1C0025202melanoma1CTD_human
HgeneECHDC1C0860207Drug-Induced Liver Disease1CTD_human
HgeneECHDC1C1262760Hepatitis, Drug-Induced1CTD_human
HgeneECHDC1C3658290Drug-Induced Acute Liver Injury1CTD_human
HgeneECHDC1C4277682Chemical and Drug Induced Liver Injury1CTD_human
HgeneECHDC1C4279912Chemically-Induced Liver Toxicity1CTD_human
TgeneMYO6C3711374Nonsyndromic Deafness7CLINGEN
TgeneMYO6C2931767Deafness, autosomal dominant nonsyndromic sensorineural 223CTD_human;GENOMICS_ENGLAND;UNIPROT
TgeneMYO6C1843028Deafness, Autosomal Recessive 372CTD_human;GENOMICS_ENGLAND;UNIPROT
TgeneMYO6C0013146Drug abuse1CTD_human
TgeneMYO6C0013170Drug habituation1CTD_human
TgeneMYO6C0013222Drug Use Disorders1CTD_human
TgeneMYO6C0029231Organic Mental Disorders, Substance-Induced1CTD_human
TgeneMYO6C0038580Substance Dependence1CTD_human
TgeneMYO6C0038586Substance Use Disorders1CTD_human
TgeneMYO6C0236969Substance-Related Disorders1CTD_human
TgeneMYO6C0740858Substance abuse problem1CTD_human
TgeneMYO6C1510472Drug Dependence1CTD_human
TgeneMYO6C4316881Prescription Drug Abuse1CTD_human