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Center for Computational Systems Medicine
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FusionGeneSummary

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FusionProtFeature

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FusionGeneSequence

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FusionGenePPI

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RelatedDrugs

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RelatedDiseases

Fusion gene ID: 38770

FusionGeneSummary for TMPRSS3_MYO5B

check button Fusion gene summary
Fusion gene informationFusion gene name: TMPRSS3_MYO5B
Fusion gene ID: 38770
HgeneTgene
Gene symbol

TMPRSS3

MYO5B

Gene ID

64699

4645

Gene nametransmembrane serine protease 3myosin VB
SynonymsDFNB10|DFNB8|ECHOS1|TADG12-
Cytomap

21q22.3

18q21.1

Type of geneprotein-codingprotein-coding
Descriptiontransmembrane protease serine 3serine protease TADG-12transmembrane protease, serine 3tumor-associated differentially-expressed gene 12 proteinunconventional myosin-VbMYO5B variant proteinmyosin-Vb
Modification date2018052320180519
UniProtAcc

P57727

Q9ULV0

Ensembl transtripts involved in fusion geneENST00000474596, ENST00000398405, 
ENST00000433957, ENST00000291532, 
ENST00000380399, ENST00000398397, 
ENST00000285039, ENST00000324581, 
ENST00000592688, ENST00000587895, 
Fusion gene scores* DoF score2 X 2 X 2=89 X 9 X 7=567
# samples 211
** MAII scorelog2(2/8*10)=1.32192809488736log2(11/567*10)=-2.36584521141757
possibly effective Gene in Pan-Cancer Fusion Genes (peGinPCFGs).
DoF>8 and MAII<0
Context

PubMed: TMPRSS3 [Title/Abstract] AND MYO5B [Title/Abstract] AND fusion [Title/Abstract]

Functional or gene categories assigned by FusionGDB annotation
* 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
HgeneTMPRSS3

GO:0006883

cellular sodium ion homeostasis

12393794


check button Fusion gene information from three resources
(ChiTars (NAR, 2018), tumorfusions (NAR, 2018), Gao et al. (Cell, 2018))
* 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.
Data typeSourceCancer typeSampleHgeneHchrHbpHstrandTgeneTchrTbpTstrand
ChiTaRS3.1BG874549TMPRSS3chr21

43800239

-MYO5Bchr18

47500772

+
* LD: Li Ding group's fusion gene list
  RV: Roel Verhaak group's fusion gene list
  ChiTaRs fusion database

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-3CDSENST00000474596ENST00000285039TMPRSS3chr21

43800239

-MYO5Bchr18

47500772

+
intron-intronENST00000474596ENST00000324581TMPRSS3chr21

43800239

-MYO5Bchr18

47500772

+
intron-intronENST00000474596ENST00000592688TMPRSS3chr21

43800239

-MYO5Bchr18

47500772

+
intron-intronENST00000474596ENST00000587895TMPRSS3chr21

43800239

-MYO5Bchr18

47500772

+
intron-3CDSENST00000398405ENST00000285039TMPRSS3chr21

43800239

-MYO5Bchr18

47500772

+
intron-intronENST00000398405ENST00000324581TMPRSS3chr21

43800239

-MYO5Bchr18

47500772

+
intron-intronENST00000398405ENST00000592688TMPRSS3chr21

43800239

-MYO5Bchr18

47500772

+
intron-intronENST00000398405ENST00000587895TMPRSS3chr21

43800239

-MYO5Bchr18

47500772

+
intron-3CDSENST00000433957ENST00000285039TMPRSS3chr21

43800239

-MYO5Bchr18

47500772

+
intron-intronENST00000433957ENST00000324581TMPRSS3chr21

43800239

-MYO5Bchr18

47500772

+
intron-intronENST00000433957ENST00000592688TMPRSS3chr21

43800239

-MYO5Bchr18

47500772

+
intron-intronENST00000433957ENST00000587895TMPRSS3chr21

43800239

-MYO5Bchr18

47500772

+
intron-3CDSENST00000291532ENST00000285039TMPRSS3chr21

43800239

-MYO5Bchr18

47500772

+
intron-intronENST00000291532ENST00000324581TMPRSS3chr21

43800239

-MYO5Bchr18

47500772

+
intron-intronENST00000291532ENST00000592688TMPRSS3chr21

43800239

-MYO5Bchr18

47500772

+
intron-intronENST00000291532ENST00000587895TMPRSS3chr21

43800239

-MYO5Bchr18

47500772

+
intron-3CDSENST00000380399ENST00000285039TMPRSS3chr21

43800239

-MYO5Bchr18

47500772

+
intron-intronENST00000380399ENST00000324581TMPRSS3chr21

43800239

-MYO5Bchr18

47500772

+
intron-intronENST00000380399ENST00000592688TMPRSS3chr21

43800239

-MYO5Bchr18

47500772

+
intron-intronENST00000380399ENST00000587895TMPRSS3chr21

43800239

-MYO5Bchr18

47500772

+
intron-3CDSENST00000398397ENST00000285039TMPRSS3chr21

43800239

-MYO5Bchr18

47500772

+
intron-intronENST00000398397ENST00000324581TMPRSS3chr21

43800239

-MYO5Bchr18

47500772

+
intron-intronENST00000398397ENST00000592688TMPRSS3chr21

43800239

-MYO5Bchr18

47500772

+
intron-intronENST00000398397ENST00000587895TMPRSS3chr21

43800239

-MYO5Bchr18

47500772

+

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FusionProtFeatures for TMPRSS3_MYO5B


check buttonMain function of each fusion partner protein. (from UniProt)
HgeneTgene
TMPRSS3

P57727

MYO5B

Q9ULV0

Probable serine protease that plays a role in hearing.Acts as a permissive factor for cochlear hair cell survival andactivation at the onset of hearing and is required for saccularhair cell survival (By similarity). Activates ENaC (in vitro).{ECO:0000250, ECO:0000269|PubMed:12393794}. May be involved in vesicular trafficking via itsassociation with the CART complex. The CART complex is necessaryfor efficient transferrin receptor recycling but not for EGFRdegradation. Required in a complex with RAB11A and RAB11FIP2 forthe transport of NPC1L1 to the plasma membrane. Together withRAB11A participates in CFTR trafficking to the plasma membrane andTF (transferrin) recycling in nonpolarized cells. Together withRAB11A and RAB8A participates in epithelial cell polarization.Together with RAB25 regulates transcytosis.{ECO:0000269|PubMed:21206382, ECO:0000269|PubMed:21282656}.

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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FusionGeneSequence for TMPRSS3_MYO5B


check button For in-frame fusion transcripts, we provide the fusion transcript sequences and fusion amino acid sequences.
(nt: nucleotides, aa: amino acids)

* Fusion amino acid sequences.

* Fusion transcript sequences (only coding sequence (CDS) region).

* Fusion transcript sequences (Full-length transcript).

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FusionGenePPI for TMPRSS3_MYO5B


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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RelatedDrugs for TMPRSS3_MYO5B


check button Drugs targeting genes involved in this fusion gene.
(DrugBank Version 5.1.0 2018-04-02)
PartnerGeneUniProtAccDrugBank IDDrug nameDrug activityDrug typeDrug status

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RelatedDiseases for TMPRSS3_MYO5B


check button Diseases associated with fusion partners.
(DisGeNet 4.0)
PartnerGeneDisease IDDisease name# pubmedsSource
HgeneTMPRSS3C1832827DEAFNESS, CHILDHOOD-ONSET NEUROSENSORY, AUTOSOMAL RECESSIVE 84CTD_human;UNIPROT
HgeneTMPRSS3C0032273Pneumoconiosis1CTD_human
TgeneMYO5BC0341306Microvillus inclusion disease5CTD_human;ORPHANET;UNIPROT
TgeneMYO5BC0011991Diarrhea1CTD_human
TgeneMYO5BC0021831Intestinal Diseases1CTD_human
TgeneMYO5BC0023903Liver neoplasms1CTD_human
TgeneMYO5BC0025521Inborn Errors of Metabolism1CTD_human
TgeneMYO5BC0036341Schizophrenia1PSYGENET
TgeneMYO5BC0236733Amphetamine-Related Disorders1CTD_human
TgeneMYO5BC0525045Mood Disorders1PSYGENET