FusionGDB Logo

Home

Download

Statistics

Examples

Help

Contact
Center for Computational Systems Medicine
leaf

Fusion Gene Summary

leaf

Fusion Gene ORF analysis

leaf

Fusion Genomic Features

leaf

Fusion Protein Features

leaf

Fusion Gene Sequence

leaf

Fusion Gene PPI analysis

leaf

Related Drugs

leaf

Related Diseases

Fusion gene:MBTD1-MYO7A (FusionGDB2 ID:51785)

Fusion Gene Summary for MBTD1-MYO7A

check button Fusion gene summary
Fusion gene informationFusion gene name: MBTD1-MYO7A
Fusion gene ID: 51785
HgeneTgene
Gene symbol

MBTD1

MYO7A

Gene ID

54799

4647

Gene namembt domain containing 1myosin VIIA
SynonymsSA49P01DFNA11|DFNB2|MYOVIIA|MYU7A|NSRD2|USH1B
Cytomap

17q21.33

11q13.5

Type of geneprotein-codingprotein-coding
DescriptionMBT domain-containing protein 1unconventional myosin-VIIamyosin VIIA (Usher syndrome 1B (autosomal recessive, severe))
Modification date2020031320200313
UniProtAcc.

Q13402

Ensembl transtripts involved in fusion geneENST00000586178, ENST00000415868, 
ENST00000376381, ENST00000593259, 
ENST00000409709, ENST00000409893, 
ENST00000458637, ENST00000409619, 
ENST00000605744, 
Fusion gene scores* DoF score13 X 12 X 11=17169 X 9 X 4=324
# samples 1710
** MAII scorelog2(17/1716*10)=-3.33544290136184
possibly effective Gene in Pan-Cancer Fusion Genes (peGinPCFGs).
DoF>8 and MAII<0		log2(10/324*10)=-1.6959938131099
possibly effective Gene in Pan-Cancer Fusion Genes (peGinPCFGs).
DoF>8 and MAII<0
Context

PubMed: MBTD1 [Title/Abstract] AND MYO7A [Title/Abstract] AND fusion [Title/Abstract]

Most frequent breakpointMBTD1(49294695)-MYO7A(76903096), # samples:3
Anticipated loss of major functional domain due to fusion event.MBTD1-MYO7A seems lost the major protein functional domain in Hgene partner, which is a essential gene due to the frame-shifted ORF.
MBTD1-MYO7A seems lost the major protein functional domain in Hgene partner, which is a epigenetic factor due to the frame-shifted ORF.
MBTD1-MYO7A 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)

check button Gene ontology of each fusion partner gene with evidence of Inferred from Direct Assay (IDA) from Entrez
PartnerGeneGO IDGO termPubMed ID
TgeneMYO7A

GO:0007040

lysosome organization

16001398

TgeneMYO7A

GO:0030048

actin filament-based movement

21687988


check buttonFusion gene breakpoints across MBTD1 (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 MYO7A (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
ChimerDB4BRCATCGA-A8-A079-01AMBTD1chr17

49294695

-MYO7Achr11

76903096

+
ChimerDB4BRCATCGA-A8-A079MBTD1chr17

49294694

-MYO7Achr11

76903095

+
ChimerDB4BRCATCGA-A8-A079-01AMBTD1chr17

49294695

-MYO7Achr11

76903096

+
ChimerDB4BRCATCGA-A8-A079-01AMBTD1chr17

49294695

-MYO7Achr11

76903096

+


Top

Fusion Gene ORF analysis for MBTD1-MYO7A

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
Frame-shiftENST00000586178ENST00000409709MBTD1chr17

49294695

-MYO7Achr11

76903096

+
5CDS-intronENST00000586178ENST00000409893MBTD1chr17

49294695

-MYO7Achr11

76903096

+
5CDS-intronENST00000586178ENST00000458637MBTD1chr17

49294695

-MYO7Achr11

76903096

+
5CDS-intronENST00000586178ENST00000409619MBTD1chr17

49294695

-MYO7Achr11

76903096

+
5CDS-intronENST00000586178ENST00000605744MBTD1chr17

49294695

-MYO7Achr11

76903096

+
In-frameENST00000415868ENST00000409709MBTD1chr17

49294695

-MYO7Achr11

76903096

+
5CDS-intronENST00000415868ENST00000409893MBTD1chr17

49294695

-MYO7Achr11

76903096

+
5CDS-intronENST00000415868ENST00000458637MBTD1chr17

49294695

-MYO7Achr11

76903096

+
5CDS-intronENST00000415868ENST00000409619MBTD1chr17

49294695

-MYO7Achr11

76903096

+
5CDS-intronENST00000415868ENST00000605744MBTD1chr17

49294695

-MYO7Achr11

76903096

+
Frame-shiftENST00000376381ENST00000409709MBTD1chr17

49294695

-MYO7Achr11

76903096

+
5CDS-intronENST00000376381ENST00000409893MBTD1chr17

49294695

-MYO7Achr11

76903096

+
5CDS-intronENST00000376381ENST00000458637MBTD1chr17

49294695

-MYO7Achr11

76903096

+
5CDS-intronENST00000376381ENST00000409619MBTD1chr17

49294695

-MYO7Achr11

76903096

+
5CDS-intronENST00000376381ENST00000605744MBTD1chr17

49294695

-MYO7Achr11

76903096

+
intron-3CDSENST00000593259ENST00000409709MBTD1chr17

49294695

-MYO7Achr11

76903096

+
intron-intronENST00000593259ENST00000409893MBTD1chr17

49294695

-MYO7Achr11

76903096

+
intron-intronENST00000593259ENST00000458637MBTD1chr17

49294695

-MYO7Achr11

76903096

+
intron-intronENST00000593259ENST00000409619MBTD1chr17

49294695

-MYO7Achr11

76903096

+
intron-intronENST00000593259ENST00000605744MBTD1chr17

49294695

-MYO7Achr11

76903096

+
Frame-shiftENST00000586178ENST00000409709MBTD1chr17

49294694

-MYO7Achr11

76903095

+
5CDS-intronENST00000586178ENST00000409893MBTD1chr17

49294694

-MYO7Achr11

76903095

+
5CDS-intronENST00000586178ENST00000458637MBTD1chr17

49294694

-MYO7Achr11

76903095

+
5CDS-intronENST00000586178ENST00000409619MBTD1chr17

49294694

-MYO7Achr11

76903095

+
5CDS-intronENST00000586178ENST00000605744MBTD1chr17

49294694

-MYO7Achr11

76903095

+
In-frameENST00000415868ENST00000409709MBTD1chr17

49294694

-MYO7Achr11

76903095

+
5CDS-intronENST00000415868ENST00000409893MBTD1chr17

49294694

-MYO7Achr11

76903095

+
5CDS-intronENST00000415868ENST00000458637MBTD1chr17

49294694

-MYO7Achr11

76903095

+
5CDS-intronENST00000415868ENST00000409619MBTD1chr17

49294694

-MYO7Achr11

76903095

+
5CDS-intronENST00000415868ENST00000605744MBTD1chr17

49294694

-MYO7Achr11

76903095

+
Frame-shiftENST00000376381ENST00000409709MBTD1chr17

49294694

-MYO7Achr11

76903095

+
5CDS-intronENST00000376381ENST00000409893MBTD1chr17

49294694

-MYO7Achr11

76903095

+
5CDS-intronENST00000376381ENST00000458637MBTD1chr17

49294694

-MYO7Achr11

76903095

+
5CDS-intronENST00000376381ENST00000409619MBTD1chr17

49294694

-MYO7Achr11

76903095

+
5CDS-intronENST00000376381ENST00000605744MBTD1chr17

49294694

-MYO7Achr11

76903095

+
intron-3CDSENST00000593259ENST00000409709MBTD1chr17

49294694

-MYO7Achr11

76903095

+
intron-intronENST00000593259ENST00000409893MBTD1chr17

49294694

-MYO7Achr11

76903095

+
intron-intronENST00000593259ENST00000458637MBTD1chr17

49294694

-MYO7Achr11

76903095

+
intron-intronENST00000593259ENST00000409619MBTD1chr17

49294694

-MYO7Achr11

76903095

+
intron-intronENST00000593259ENST00000605744MBTD1chr17

49294694

-MYO7Achr11

76903095

+

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)
ENST00000415868MBTD1chr1749294695-ENST00000409709MYO7Achr1176903096+38155496332721069
ENST00000415868MBTD1chr1749294694-ENST00000409709MYO7Achr1176903095+38155496332721069

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
ENST00000415868ENST00000409709MBTD1chr1749294695-MYO7Achr1176903096+0.00184720.9981528
ENST00000415868ENST00000409709MBTD1chr1749294694-MYO7Achr1176903095+0.00184720.9981528

Top

Fusion Genomic Features for MBTD1-MYO7A


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.

Top

Fusion Protein Features for MBTD1-MYO7A


check button Go to

FGviewer for the breakpoints of chr17:49294695-chr11:76903096

.
- 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
.MYO7A

Q13402

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. Unconventional myosins serve in intracellular movements. Their highly divergent tails bind to membranous compartments, which are then moved relative to actin filaments. In the retina, plays an important role in the renewal of the outer photoreceptor disks. Plays an important role in the distribution and migration of retinal pigment epithelial (RPE) melanosomes and phagosomes, and in the regulation of opsin transport in retinal photoreceptors. In the inner ear, plays an important role in differentiation, morphogenesis and organization of cochlear hair cell bundles. Involved in hair-cell vesicle trafficking of aminoglycosides, which are known to induce ototoxicity (By similarity). Motor protein that is a part of the functional network formed by USH1C, USH1G, CDH23 and MYO7A that mediates mechanotransduction in cochlear hair cells. Required for normal hearing. {ECO:0000250, ECO:0000269|PubMed:19643958, ECO:0000269|PubMed:21493626, ECO:0000269|PubMed:21687988, ECO:0000269|PubMed:21709241}.

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
HgeneMBTD1chr17:49294694chr11:76903095ENST00000376381-61545_80162.0390.0Zinc fingerFCS-type
HgeneMBTD1chr17:49294694chr11:76903095ENST00000415868-41545_80162.0629.0Zinc fingerFCS-type
HgeneMBTD1chr17:49294694chr11:76903095ENST00000586178-61745_80162.0629.0Zinc fingerFCS-type
HgeneMBTD1chr17:49294695chr11:76903096ENST00000376381-61545_80162.0390.0Zinc fingerFCS-type
HgeneMBTD1chr17:49294695chr11:76903096ENST00000415868-41545_80162.0629.0Zinc fingerFCS-type
HgeneMBTD1chr17:49294695chr11:76903096ENST00000586178-61745_80162.0629.0Zinc fingerFCS-type
TgeneMYO7Achr17:49294694chr11:76903095ENST0000040970929491603_16721308.02216.0DomainSH3
TgeneMYO7Achr17:49294694chr11:76903095ENST0000040970929491747_18961308.02216.0DomainMyTH4 2
TgeneMYO7Achr17:49294694chr11:76903095ENST0000040970929491902_22051308.02216.0DomainFERM 2
TgeneMYO7Achr17:49294694chr11:76903095ENST0000045863729491603_16721308.02176.0DomainSH3
TgeneMYO7Achr17:49294694chr11:76903095ENST0000045863729491747_18961308.02176.0DomainMyTH4 2
TgeneMYO7Achr17:49294694chr11:76903095ENST0000045863729491902_22051308.02176.0DomainFERM 2
TgeneMYO7Achr17:49294695chr11:76903096ENST0000040970929491603_16721308.02216.0DomainSH3
TgeneMYO7Achr17:49294695chr11:76903096ENST0000040970929491747_18961308.02216.0DomainMyTH4 2
TgeneMYO7Achr17:49294695chr11:76903096ENST0000040970929491902_22051308.02216.0DomainFERM 2
TgeneMYO7Achr17:49294695chr11:76903096ENST0000045863729491603_16721308.02176.0DomainSH3
TgeneMYO7Achr17:49294695chr11:76903096ENST0000045863729491747_18961308.02176.0DomainMyTH4 2
TgeneMYO7Achr17:49294695chr11:76903096ENST0000045863729491902_22051308.02176.0DomainFERM 2

- In-frame and not-retained protein feature among the 13 regional features.
PartnerGeneHbpTbpENSTStrandBPexonTotalExonProtein feature loci*BPlociTotalLenProtein featureProtein feature note
HgeneMBTD1chr17:49294694chr11:76903095ENST00000376381-615141_245162.0390.0RepeatNote=MBT 1
HgeneMBTD1chr17:49294694chr11:76903095ENST00000376381-615253_350162.0390.0RepeatNote=MBT 2
HgeneMBTD1chr17:49294694chr11:76903095ENST00000376381-615351_456162.0390.0RepeatNote=MBT 3
HgeneMBTD1chr17:49294694chr11:76903095ENST00000376381-615464_560162.0390.0RepeatNote=MBT 4
HgeneMBTD1chr17:49294694chr11:76903095ENST00000415868-415141_245162.0629.0RepeatNote=MBT 1
HgeneMBTD1chr17:49294694chr11:76903095ENST00000415868-415253_350162.0629.0RepeatNote=MBT 2
HgeneMBTD1chr17:49294694chr11:76903095ENST00000415868-415351_456162.0629.0RepeatNote=MBT 3
HgeneMBTD1chr17:49294694chr11:76903095ENST00000415868-415464_560162.0629.0RepeatNote=MBT 4
HgeneMBTD1chr17:49294694chr11:76903095ENST00000586178-617141_245162.0629.0RepeatNote=MBT 1
HgeneMBTD1chr17:49294694chr11:76903095ENST00000586178-617253_350162.0629.0RepeatNote=MBT 2
HgeneMBTD1chr17:49294694chr11:76903095ENST00000586178-617351_456162.0629.0RepeatNote=MBT 3
HgeneMBTD1chr17:49294694chr11:76903095ENST00000586178-617464_560162.0629.0RepeatNote=MBT 4
HgeneMBTD1chr17:49294695chr11:76903096ENST00000376381-615141_245162.0390.0RepeatNote=MBT 1
HgeneMBTD1chr17:49294695chr11:76903096ENST00000376381-615253_350162.0390.0RepeatNote=MBT 2
HgeneMBTD1chr17:49294695chr11:76903096ENST00000376381-615351_456162.0390.0RepeatNote=MBT 3
HgeneMBTD1chr17:49294695chr11:76903096ENST00000376381-615464_560162.0390.0RepeatNote=MBT 4
HgeneMBTD1chr17:49294695chr11:76903096ENST00000415868-415141_245162.0629.0RepeatNote=MBT 1
HgeneMBTD1chr17:49294695chr11:76903096ENST00000415868-415253_350162.0629.0RepeatNote=MBT 2
HgeneMBTD1chr17:49294695chr11:76903096ENST00000415868-415351_456162.0629.0RepeatNote=MBT 3
HgeneMBTD1chr17:49294695chr11:76903096ENST00000415868-415464_560162.0629.0RepeatNote=MBT 4
HgeneMBTD1chr17:49294695chr11:76903096ENST00000586178-617141_245162.0629.0RepeatNote=MBT 1
HgeneMBTD1chr17:49294695chr11:76903096ENST00000586178-617253_350162.0629.0RepeatNote=MBT 2
HgeneMBTD1chr17:49294695chr11:76903096ENST00000586178-617351_456162.0629.0RepeatNote=MBT 3
HgeneMBTD1chr17:49294695chr11:76903096ENST00000586178-617464_560162.0629.0RepeatNote=MBT 4
TgeneMYO7Achr17:49294694chr11:76903095ENST0000040970929491017_12531308.02216.0DomainMyTH4 1
TgeneMYO7Achr17:49294694chr11:76903095ENST0000040970929491258_16021308.02216.0DomainFERM 1
TgeneMYO7Achr17:49294694chr11:76903095ENST00000409709294965_7411308.02216.0DomainMyosin motor
TgeneMYO7Achr17:49294694chr11:76903095ENST000004097092949745_7651308.02216.0DomainIQ 1
TgeneMYO7Achr17:49294694chr11:76903095ENST000004097092949768_7881308.02216.0DomainIQ 2
TgeneMYO7Achr17:49294694chr11:76903095ENST000004097092949791_8111308.02216.0DomainIQ 3
TgeneMYO7Achr17:49294694chr11:76903095ENST000004097092949814_8341308.02216.0DomainIQ 4
TgeneMYO7Achr17:49294694chr11:76903095ENST000004097092949837_8571308.02216.0DomainIQ 5
TgeneMYO7Achr17:49294694chr11:76903095ENST0000045863729491017_12531308.02176.0DomainMyTH4 1
TgeneMYO7Achr17:49294694chr11:76903095ENST0000045863729491258_16021308.02176.0DomainFERM 1
TgeneMYO7Achr17:49294694chr11:76903095ENST00000458637294965_7411308.02176.0DomainMyosin motor
TgeneMYO7Achr17:49294694chr11:76903095ENST000004586372949745_7651308.02176.0DomainIQ 1
TgeneMYO7Achr17:49294694chr11:76903095ENST000004586372949768_7881308.02176.0DomainIQ 2
TgeneMYO7Achr17:49294694chr11:76903095ENST000004586372949791_8111308.02176.0DomainIQ 3
TgeneMYO7Achr17:49294694chr11:76903095ENST000004586372949814_8341308.02176.0DomainIQ 4
TgeneMYO7Achr17:49294694chr11:76903095ENST000004586372949837_8571308.02176.0DomainIQ 5
TgeneMYO7Achr17:49294695chr11:76903096ENST0000040970929491017_12531308.02216.0DomainMyTH4 1
TgeneMYO7Achr17:49294695chr11:76903096ENST0000040970929491258_16021308.02216.0DomainFERM 1
TgeneMYO7Achr17:49294695chr11:76903096ENST00000409709294965_7411308.02216.0DomainMyosin motor
TgeneMYO7Achr17:49294695chr11:76903096ENST000004097092949745_7651308.02216.0DomainIQ 1
TgeneMYO7Achr17:49294695chr11:76903096ENST000004097092949768_7881308.02216.0DomainIQ 2
TgeneMYO7Achr17:49294695chr11:76903096ENST000004097092949791_8111308.02216.0DomainIQ 3
TgeneMYO7Achr17:49294695chr11:76903096ENST000004097092949814_8341308.02216.0DomainIQ 4
TgeneMYO7Achr17:49294695chr11:76903096ENST000004097092949837_8571308.02216.0DomainIQ 5
TgeneMYO7Achr17:49294695chr11:76903096ENST0000045863729491017_12531308.02176.0DomainMyTH4 1
TgeneMYO7Achr17:49294695chr11:76903096ENST0000045863729491258_16021308.02176.0DomainFERM 1
TgeneMYO7Achr17:49294695chr11:76903096ENST00000458637294965_7411308.02176.0DomainMyosin motor
TgeneMYO7Achr17:49294695chr11:76903096ENST000004586372949745_7651308.02176.0DomainIQ 1
TgeneMYO7Achr17:49294695chr11:76903096ENST000004586372949768_7881308.02176.0DomainIQ 2
TgeneMYO7Achr17:49294695chr11:76903096ENST000004586372949791_8111308.02176.0DomainIQ 3
TgeneMYO7Achr17:49294695chr11:76903096ENST000004586372949814_8341308.02176.0DomainIQ 4
TgeneMYO7Achr17:49294695chr11:76903096ENST000004586372949837_8571308.02176.0DomainIQ 5
TgeneMYO7Achr17:49294694chr11:76903095ENST000004097092949158_1651308.02216.0Nucleotide bindingATP
TgeneMYO7Achr17:49294694chr11:76903095ENST000004586372949158_1651308.02176.0Nucleotide bindingATP
TgeneMYO7Achr17:49294695chr11:76903096ENST000004097092949158_1651308.02216.0Nucleotide bindingATP
TgeneMYO7Achr17:49294695chr11:76903096ENST000004586372949158_1651308.02176.0Nucleotide bindingATP
TgeneMYO7Achr17:49294694chr11:76903095ENST000004097092949632_6391308.02216.0RegionActin-binding
TgeneMYO7Achr17:49294694chr11:76903095ENST000004097092949858_9351308.02216.0RegionSAH
TgeneMYO7Achr17:49294694chr11:76903095ENST000004586372949632_6391308.02176.0RegionActin-binding
TgeneMYO7Achr17:49294694chr11:76903095ENST000004586372949858_9351308.02176.0RegionSAH
TgeneMYO7Achr17:49294695chr11:76903096ENST000004097092949632_6391308.02216.0RegionActin-binding
TgeneMYO7Achr17:49294695chr11:76903096ENST000004097092949858_9351308.02216.0RegionSAH
TgeneMYO7Achr17:49294695chr11:76903096ENST000004586372949632_6391308.02176.0RegionActin-binding
TgeneMYO7Achr17:49294695chr11:76903096ENST000004586372949858_9351308.02176.0RegionSAH


Top

Fusion Gene Sequence for MBTD1-MYO7A


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.
>In-frame_ENST00000415868_ENST00000409709_TCGA-A8-A079-01A_MBTD1_chr17_49294695_-_MYO7A_chr11_76903096_length(transcript)=3815nt_BP=549nt
TCTCTTACTTCAAAGACTGAACATTCTTCACGATCTGAAAGGAAAAGAAGAGATTCTTTCGGGATGTTTGACGGTTATGATAGCTGCAGT
GAGGACACAAGCAGCAGCTCCAGCTCCGAAGAGAGTGAGGAAGAAGTCGCTCCTTTACCTTCTAATCTCCCGATTATCAAAAACAATGGG
CAAGTCTACACATACCCAGATGGTAAATCTGGCATGGCTACCTGTGAGATGTGTGGGATGGTTGGCGTCCGAGATGCTTTTTACTCTAAA
ACAAAGCGTTTCTGTAGCGTTTCATGTTCAAGAAGTTACTCGTCAAACTCCAAGAAGGCAAGCATTTTGGCCAGACTTCAGGGTAAGCCT
CCAACAAAGAAAGCAAAAGTTCTTCAGAAACAACCTTTAGTTGCTAAGCTAGCCGCATATGCTCAGTATCAAGCTACCTTGCAAAATCAA
GCAAAGACAAAAGCAGCAGTCTCCATGGAAGGTTTCAGCTGGGGTAACTACATCAATAGCAATAGCTTTATAGCAGCTCCGGTTACCTGT
TTTAAACATGTGTCCTCCCTGGGCAGCGGCAGTGACCACGTCATGGACGCCATCTCCCAGTGCGAGCAGTACGCCAAGGAGCAGGGCGCC
CAGGAGCGCAACGCCCCCTGGAGGCTCTTCTTCCGCAAAGAGGTCTTCACGCCCTGGCACAGCCCCTCCGAGGACAACGTGGCCACCAAC
CTCATCTACCAGCAGGTGGTGCGAGGAGTCAAGTTTGGGGAGTACAGGTGTGAGAAGGAGGACGACCTGGCTGAGCTGGCCTCCCAGCAG
TACTTTGTAGACTATGGCTCTGAGATGATCCTGGAGCGCCTCCTGAACCTCGTGCCCACCTACATCCCCGACCGCGAGATCACGCCCCTG
AAGACGCTGGAGAAGTGGGCCCAGCTGGCCATCGCCGCCCACAAGAAGGGGATTTATGCCCAGAGGAGAACTGATGCCCAGAAGGTCAAA
GAGGATGTGGTCAGTTATGCCCGCTTCAAGTGGCCCTTGCTCTTCTCCAGGTTTTATGAAGCCTACAAATTCTCAGGCCCCAGTCTCCCC
AAGAACGACGTCATCGTGGCCGTCAACTGGACGGGTGTGTACTTTGTGGATGAGCAGGAGCAGGTACTTCTGGAGCTGTCCTTCCCAGAG
ATCATGGCCGTGTCCAGCAGCAGGGAGTGCCGTGTCTGGCTCTCACTGGGCTGCTCTGATCTTGGCTGTGCTGCGCCTCACTCAGGCTGG
GCAGGACTGACCCCGGCGGGGCCCTGTTCTCCGTGTTGGTCCTGCAGGGGAGCGAAAACGACGGCCCCCAGCTTCACGCTGGCCACCATC
AAGGGGGACGAATACACCTTCACCTCCAGCAATGCTGAGGACATTCGTGACCTGGTGGTCACCTTCCTAGAGGGGCTCCGGAAGAGATCT
AAGTATGTTGTGGCCCTGCAGGATAACCCCAACCCCGCAGGCGAGGAGTCAGGCTTCCTCAGCTTTGCCAAGGGAGACCTCATCATCCTG
GACCATGACACGGGCGAGCAGGTCATGAACTCGGGCTGGGCCAACGGCATCAATGAGAGGACCAAGCAGCGTGGGGACTTCCCCACCGAC
AGTGTGTACGTCATGCCCACTGTCACCATGCCACCGCGGGAGATTGTGGCCCTGGTCACCATGACTCCCGATCAGAGGCAGGACGTTGTC
CGGCTCTTGCAGCTGCGAACGGCGGAGCCCGAGGTGCGTGCCAAGCCCTACACGCTGGAGGAGTTTTCCTATGACTACTTCAGGCCCCCA
CCCAAGCACACGCTGAGCCGTGTCATGGTGTCCAAGGCCCGAGGCAAGGACCGGCTGTGGAGCCACACGCGGGAACCGCTCAAGCAGGCG
CTGCTCAAGAAGCTCCTGGGCAGTGAGGAGCTCTCGCAGGAGGCCTGCCTGGCCTTCATTGCTGTGCTCAAGTACATGGGCGACTACCCG
TCCAAGAGGACACGCTCCGTCAACGAGCTCACCGACCAGATCTTTGAGGGTCCCCTGAAAGCCGAGCCCCTGAAGGACGAGGCATATGTG
CAGATCCTGAAGCAGCTGACCGACAACCACATCAGGTACAGCGAGGAGCGGGGTTGGGAGCTGCTCTGGCTGTGCACGGGCCTTTTCCCA
CCCAGCAACATCCTCCTGCCCCACGTGCAGCGCTTCCTGCAGTCCCGAAAGCACTGCCCACTCGCCATCGACTGCCTGCAACGGCTCCAG
AAAGCCCTGAGAAACGGGTCCCGGAAGTACCCTCCGCACCTGGTGGAGGTGGAGGCCATCCAGCACAAGACCACCCAGATTTTCCACAAA
GTCTACTTCCCTGATGACACTGACGAGGCCTTCGAAGTGGAGTCCAGCACCAAGGCCAAGGACTTCTGCCAGAACATCGCCACCAGGCTG
CTCCTCAAGTCCTCAGAGGGATTCAGCCTCTTTGTCAAAATTGCAGACAAGGTCCTCAGCGTTCCTGAGAATGACTTCTTCTTTGACTTT
GTTCGACACTTGACAGACTGGATAAAGAAAGCTCGGCCCATCAAGGACGGAATTGTGCCCTCACTCACCTACCAGGTGTTCTTCATGAAG
AAGCTGTGGACCACCACGGTGCCAGGGAAGGATCCCATGGCCGATTCCATCTTCCACTATTACCAGGAGTTGCCCAAGTATCTCCGAGGC
TACCACAAGTGCACGCGGGAGGAGGTGCTGCAGCTGGGGGCGCTGATCTACAGGGTCAAGTTCGAGGAGGACAAGTCCTACTTCCCCAGC
ATCCCCAAGCTGCTGCGGGAGCTGGTGCCCCAGGACCTTATCCGGCAGGTCTCACCTGATGACTGGAAGCGGTCCATCGTCGCCTACTTC
AACAAGCACGCAGGGAAGTCCAAGGAGGAGGCCAAGCTGGCCTTCCTGAAGCTCATCTTCAAGTGGCCCACCTTTGGCTCAGCCTTCTTC
GAGGTGAAGCAAACTACGGAGCCAAACTTCCCTGAGATCCTCCTAATTGCCATCAACAAGTATGGGGTCAGCCTCATCGATCCCAAAACG
AAGGATATCCTCACCACTCATCCCTTCACCAAGATCTCCAACTGGAGCAGCGGCAACACCTACTTCCACATCACCATTGGGAACTTGGTG
CGCGGGAGCAAACTGCTCTGCGAGACGTCACTGGGCTACAAGATGGATGACCTCCTGACTTCCTACATTAGCCAGATGCTCACAGCCATG
AGCAAACAGCGGGGCTCCAGGAGCGGCAAGTGAACAGTCACGGGGAGGTGCTGGTTCCATGCCTGCTCTCGAGGCAGCAGTGGGTTCAGG
CCCATCAGCTACCCCTGCAGCTGGGGAAGACTTATGCCATCCCGGCAGCGAGGCTGGGCTGGCCAGCCACCACTGACTATACCAACTGGG
CCTCTGATGTTCTTCCAGTGAGGCATCTCTCTGGGATGCAGAACTTCCCTCCATCCACCCCTCTGGCACCTGGGTTGGTCTAATCCTAGT
TTGCTGTGGCCTTCCCGGTTGTGAGAGCCTGTGATCCTTAGATGTGTCTCCTGTTTCAGACCAGCCCCACCATGCAACTTCCTTTGACTT
TCTGTGTACCACTGGGATAGAGGAATCAAGAGGACAATCTAGCTCTCCATACTTTGAACAACCAAATGTGCATTGAATACTCTGAAACCG
AAGGGACTGGATCTGCAGGTGGGATGAGGGAGACAGACCACTTTTCTATATTGCAGTGTGAATGCTGGGCCCCTGCTCAAGTCTACCCTG

>In-frame_ENST00000415868_ENST00000409709_TCGA-A8-A079-01A_MBTD1_chr17_49294695_-_MYO7A_chr11_76903096_length(amino acids)=1069AA_start in transcript=63_stop in transcript=3272
MFDGYDSCSEDTSSSSSSEESEEEVAPLPSNLPIIKNNGQVYTYPDGKSGMATCEMCGMVGVRDAFYSKTKRFCSVSCSRSYSSNSKKAS
ILARLQGKPPTKKAKVLQKQPLVAKLAAYAQYQATLQNQAKTKAAVSMEGFSWGNYINSNSFIAAPVTCFKHVSSLGSGSDHVMDAISQC
EQYAKEQGAQERNAPWRLFFRKEVFTPWHSPSEDNVATNLIYQQVVRGVKFGEYRCEKEDDLAELASQQYFVDYGSEMILERLLNLVPTY
IPDREITPLKTLEKWAQLAIAAHKKGIYAQRRTDAQKVKEDVVSYARFKWPLLFSRFYEAYKFSGPSLPKNDVIVAVNWTGVYFVDEQEQ
VLLELSFPEIMAVSSSRECRVWLSLGCSDLGCAAPHSGWAGLTPAGPCSPCWSCRGAKTTAPSFTLATIKGDEYTFTSSNAEDIRDLVVT
FLEGLRKRSKYVVALQDNPNPAGEESGFLSFAKGDLIILDHDTGEQVMNSGWANGINERTKQRGDFPTDSVYVMPTVTMPPREIVALVTM
TPDQRQDVVRLLQLRTAEPEVRAKPYTLEEFSYDYFRPPPKHTLSRVMVSKARGKDRLWSHTREPLKQALLKKLLGSEELSQEACLAFIA
VLKYMGDYPSKRTRSVNELTDQIFEGPLKAEPLKDEAYVQILKQLTDNHIRYSEERGWELLWLCTGLFPPSNILLPHVQRFLQSRKHCPL
AIDCLQRLQKALRNGSRKYPPHLVEVEAIQHKTTQIFHKVYFPDDTDEAFEVESSTKAKDFCQNIATRLLLKSSEGFSLFVKIADKVLSV
PENDFFFDFVRHLTDWIKKARPIKDGIVPSLTYQVFFMKKLWTTTVPGKDPMADSIFHYYQELPKYLRGYHKCTREEVLQLGALIYRVKF
EEDKSYFPSIPKLLRELVPQDLIRQVSPDDWKRSIVAYFNKHAGKSKEEAKLAFLKLIFKWPTFGSAFFEVKQTTEPNFPEILLIAINKY

--------------------------------------------------------------
>In-frame_ENST00000415868_ENST00000409709_TCGA-A8-A079_MBTD1_chr17_49294694_-_MYO7A_chr11_76903095_length(transcript)=3815nt_BP=549nt
TCTCTTACTTCAAAGACTGAACATTCTTCACGATCTGAAAGGAAAAGAAGAGATTCTTTCGGGATGTTTGACGGTTATGATAGCTGCAGT
GAGGACACAAGCAGCAGCTCCAGCTCCGAAGAGAGTGAGGAAGAAGTCGCTCCTTTACCTTCTAATCTCCCGATTATCAAAAACAATGGG
CAAGTCTACACATACCCAGATGGTAAATCTGGCATGGCTACCTGTGAGATGTGTGGGATGGTTGGCGTCCGAGATGCTTTTTACTCTAAA
ACAAAGCGTTTCTGTAGCGTTTCATGTTCAAGAAGTTACTCGTCAAACTCCAAGAAGGCAAGCATTTTGGCCAGACTTCAGGGTAAGCCT
CCAACAAAGAAAGCAAAAGTTCTTCAGAAACAACCTTTAGTTGCTAAGCTAGCCGCATATGCTCAGTATCAAGCTACCTTGCAAAATCAA
GCAAAGACAAAAGCAGCAGTCTCCATGGAAGGTTTCAGCTGGGGTAACTACATCAATAGCAATAGCTTTATAGCAGCTCCGGTTACCTGT
TTTAAACATGTGTCCTCCCTGGGCAGCGGCAGTGACCACGTCATGGACGCCATCTCCCAGTGCGAGCAGTACGCCAAGGAGCAGGGCGCC
CAGGAGCGCAACGCCCCCTGGAGGCTCTTCTTCCGCAAAGAGGTCTTCACGCCCTGGCACAGCCCCTCCGAGGACAACGTGGCCACCAAC
CTCATCTACCAGCAGGTGGTGCGAGGAGTCAAGTTTGGGGAGTACAGGTGTGAGAAGGAGGACGACCTGGCTGAGCTGGCCTCCCAGCAG
TACTTTGTAGACTATGGCTCTGAGATGATCCTGGAGCGCCTCCTGAACCTCGTGCCCACCTACATCCCCGACCGCGAGATCACGCCCCTG
AAGACGCTGGAGAAGTGGGCCCAGCTGGCCATCGCCGCCCACAAGAAGGGGATTTATGCCCAGAGGAGAACTGATGCCCAGAAGGTCAAA
GAGGATGTGGTCAGTTATGCCCGCTTCAAGTGGCCCTTGCTCTTCTCCAGGTTTTATGAAGCCTACAAATTCTCAGGCCCCAGTCTCCCC
AAGAACGACGTCATCGTGGCCGTCAACTGGACGGGTGTGTACTTTGTGGATGAGCAGGAGCAGGTACTTCTGGAGCTGTCCTTCCCAGAG
ATCATGGCCGTGTCCAGCAGCAGGGAGTGCCGTGTCTGGCTCTCACTGGGCTGCTCTGATCTTGGCTGTGCTGCGCCTCACTCAGGCTGG
GCAGGACTGACCCCGGCGGGGCCCTGTTCTCCGTGTTGGTCCTGCAGGGGAGCGAAAACGACGGCCCCCAGCTTCACGCTGGCCACCATC
AAGGGGGACGAATACACCTTCACCTCCAGCAATGCTGAGGACATTCGTGACCTGGTGGTCACCTTCCTAGAGGGGCTCCGGAAGAGATCT
AAGTATGTTGTGGCCCTGCAGGATAACCCCAACCCCGCAGGCGAGGAGTCAGGCTTCCTCAGCTTTGCCAAGGGAGACCTCATCATCCTG
GACCATGACACGGGCGAGCAGGTCATGAACTCGGGCTGGGCCAACGGCATCAATGAGAGGACCAAGCAGCGTGGGGACTTCCCCACCGAC
AGTGTGTACGTCATGCCCACTGTCACCATGCCACCGCGGGAGATTGTGGCCCTGGTCACCATGACTCCCGATCAGAGGCAGGACGTTGTC
CGGCTCTTGCAGCTGCGAACGGCGGAGCCCGAGGTGCGTGCCAAGCCCTACACGCTGGAGGAGTTTTCCTATGACTACTTCAGGCCCCCA
CCCAAGCACACGCTGAGCCGTGTCATGGTGTCCAAGGCCCGAGGCAAGGACCGGCTGTGGAGCCACACGCGGGAACCGCTCAAGCAGGCG
CTGCTCAAGAAGCTCCTGGGCAGTGAGGAGCTCTCGCAGGAGGCCTGCCTGGCCTTCATTGCTGTGCTCAAGTACATGGGCGACTACCCG
TCCAAGAGGACACGCTCCGTCAACGAGCTCACCGACCAGATCTTTGAGGGTCCCCTGAAAGCCGAGCCCCTGAAGGACGAGGCATATGTG
CAGATCCTGAAGCAGCTGACCGACAACCACATCAGGTACAGCGAGGAGCGGGGTTGGGAGCTGCTCTGGCTGTGCACGGGCCTTTTCCCA
CCCAGCAACATCCTCCTGCCCCACGTGCAGCGCTTCCTGCAGTCCCGAAAGCACTGCCCACTCGCCATCGACTGCCTGCAACGGCTCCAG
AAAGCCCTGAGAAACGGGTCCCGGAAGTACCCTCCGCACCTGGTGGAGGTGGAGGCCATCCAGCACAAGACCACCCAGATTTTCCACAAA
GTCTACTTCCCTGATGACACTGACGAGGCCTTCGAAGTGGAGTCCAGCACCAAGGCCAAGGACTTCTGCCAGAACATCGCCACCAGGCTG
CTCCTCAAGTCCTCAGAGGGATTCAGCCTCTTTGTCAAAATTGCAGACAAGGTCCTCAGCGTTCCTGAGAATGACTTCTTCTTTGACTTT
GTTCGACACTTGACAGACTGGATAAAGAAAGCTCGGCCCATCAAGGACGGAATTGTGCCCTCACTCACCTACCAGGTGTTCTTCATGAAG
AAGCTGTGGACCACCACGGTGCCAGGGAAGGATCCCATGGCCGATTCCATCTTCCACTATTACCAGGAGTTGCCCAAGTATCTCCGAGGC
TACCACAAGTGCACGCGGGAGGAGGTGCTGCAGCTGGGGGCGCTGATCTACAGGGTCAAGTTCGAGGAGGACAAGTCCTACTTCCCCAGC
ATCCCCAAGCTGCTGCGGGAGCTGGTGCCCCAGGACCTTATCCGGCAGGTCTCACCTGATGACTGGAAGCGGTCCATCGTCGCCTACTTC
AACAAGCACGCAGGGAAGTCCAAGGAGGAGGCCAAGCTGGCCTTCCTGAAGCTCATCTTCAAGTGGCCCACCTTTGGCTCAGCCTTCTTC
GAGGTGAAGCAAACTACGGAGCCAAACTTCCCTGAGATCCTCCTAATTGCCATCAACAAGTATGGGGTCAGCCTCATCGATCCCAAAACG
AAGGATATCCTCACCACTCATCCCTTCACCAAGATCTCCAACTGGAGCAGCGGCAACACCTACTTCCACATCACCATTGGGAACTTGGTG
CGCGGGAGCAAACTGCTCTGCGAGACGTCACTGGGCTACAAGATGGATGACCTCCTGACTTCCTACATTAGCCAGATGCTCACAGCCATG
AGCAAACAGCGGGGCTCCAGGAGCGGCAAGTGAACAGTCACGGGGAGGTGCTGGTTCCATGCCTGCTCTCGAGGCAGCAGTGGGTTCAGG
CCCATCAGCTACCCCTGCAGCTGGGGAAGACTTATGCCATCCCGGCAGCGAGGCTGGGCTGGCCAGCCACCACTGACTATACCAACTGGG
CCTCTGATGTTCTTCCAGTGAGGCATCTCTCTGGGATGCAGAACTTCCCTCCATCCACCCCTCTGGCACCTGGGTTGGTCTAATCCTAGT
TTGCTGTGGCCTTCCCGGTTGTGAGAGCCTGTGATCCTTAGATGTGTCTCCTGTTTCAGACCAGCCCCACCATGCAACTTCCTTTGACTT
TCTGTGTACCACTGGGATAGAGGAATCAAGAGGACAATCTAGCTCTCCATACTTTGAACAACCAAATGTGCATTGAATACTCTGAAACCG
AAGGGACTGGATCTGCAGGTGGGATGAGGGAGACAGACCACTTTTCTATATTGCAGTGTGAATGCTGGGCCCCTGCTCAAGTCTACCCTG

>In-frame_ENST00000415868_ENST00000409709_TCGA-A8-A079_MBTD1_chr17_49294694_-_MYO7A_chr11_76903095_length(amino acids)=1069AA_start in transcript=63_stop in transcript=3272
MFDGYDSCSEDTSSSSSSEESEEEVAPLPSNLPIIKNNGQVYTYPDGKSGMATCEMCGMVGVRDAFYSKTKRFCSVSCSRSYSSNSKKAS
ILARLQGKPPTKKAKVLQKQPLVAKLAAYAQYQATLQNQAKTKAAVSMEGFSWGNYINSNSFIAAPVTCFKHVSSLGSGSDHVMDAISQC
EQYAKEQGAQERNAPWRLFFRKEVFTPWHSPSEDNVATNLIYQQVVRGVKFGEYRCEKEDDLAELASQQYFVDYGSEMILERLLNLVPTY
IPDREITPLKTLEKWAQLAIAAHKKGIYAQRRTDAQKVKEDVVSYARFKWPLLFSRFYEAYKFSGPSLPKNDVIVAVNWTGVYFVDEQEQ
VLLELSFPEIMAVSSSRECRVWLSLGCSDLGCAAPHSGWAGLTPAGPCSPCWSCRGAKTTAPSFTLATIKGDEYTFTSSNAEDIRDLVVT
FLEGLRKRSKYVVALQDNPNPAGEESGFLSFAKGDLIILDHDTGEQVMNSGWANGINERTKQRGDFPTDSVYVMPTVTMPPREIVALVTM
TPDQRQDVVRLLQLRTAEPEVRAKPYTLEEFSYDYFRPPPKHTLSRVMVSKARGKDRLWSHTREPLKQALLKKLLGSEELSQEACLAFIA
VLKYMGDYPSKRTRSVNELTDQIFEGPLKAEPLKDEAYVQILKQLTDNHIRYSEERGWELLWLCTGLFPPSNILLPHVQRFLQSRKHCPL
AIDCLQRLQKALRNGSRKYPPHLVEVEAIQHKTTQIFHKVYFPDDTDEAFEVESSTKAKDFCQNIATRLLLKSSEGFSLFVKIADKVLSV
PENDFFFDFVRHLTDWIKKARPIKDGIVPSLTYQVFFMKKLWTTTVPGKDPMADSIFHYYQELPKYLRGYHKCTREEVLQLGALIYRVKF
EEDKSYFPSIPKLLRELVPQDLIRQVSPDDWKRSIVAYFNKHAGKSKEEAKLAFLKLIFKWPTFGSAFFEVKQTTEPNFPEILLIAINKY

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

Top

Fusion Gene PPI Analysis for MBTD1-MYO7A


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


Top

Related Drugs for MBTD1-MYO7A


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

Top

Related Diseases for MBTD1-MYO7A


check button Diseases associated with fusion partners.
(DisGeNet 4.0)
PartnerGeneDisease IDDisease name# pubmedsSource
TgeneMYO7AC1568247Usher Syndrome, Type I24CLINGEN;GENOMICS_ENGLAND;UNIPROT
TgeneMYO7AC3711374Nonsyndromic Deafness11CLINGEN
TgeneMYO7AC0154860Hereditary retinal dystrophy9CLINGEN
TgeneMYO7AC1848638USHER SYNDROME, TYPE IB (disorder)9CLINGEN
TgeneMYO7AC1848639USHER SYNDROME, TYPE IA, FORMERLY9CLINGEN
TgeneMYO7AC1848640USHER SYNDROME, TYPE I, FRENCH VARIETY, FORMERLY9CLINGEN
TgeneMYO7AC1832475Deafness, Autosomal Dominant 115CTD_human;GENOMICS_ENGLAND;UNIPROT
TgeneMYO7AC1838701DEAFNESS, AUTOSOMAL RECESSIVE 25CTD_human;GENOMICS_ENGLAND;UNIPROT
TgeneMYO7AC1568249Usher Syndrome, Type II2CTD_human;ORPHANET
TgeneMYO7AC0025202melanoma1CTD_human
TgeneMYO7AC0271097Usher Syndrome1CTD_human
TgeneMYO7AC0339534Usher syndrome type 21ORPHANET
TgeneMYO7AC1384666hearing impairment1GENOMICS_ENGLAND
TgeneMYO7AC1568248Usher Syndrome, Type III1CTD_human
TgeneMYO7AC2931205Usher syndrome, type 1A1CTD_human