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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: 23044

FusionGeneSummary for MYL6B_VWA3A

check button Fusion gene summary
Fusion gene informationFusion gene name: MYL6B_VWA3A
Fusion gene ID: 23044
HgeneTgene
Gene symbol

MYL6B

VWA3A

Gene ID

140465

146177

Gene namemyosin light chain 6Bvon Willebrand factor A domain containing 3A
SynonymsMLC1SA-
Cytomap

12q13.2

16p12.2

Type of geneprotein-codingprotein-coding
Descriptionmyosin light chain 6Bmyosin alkali light chain 1 slow amyosin light chain 1 slow amyosin light chain 1, slow-twitch muscle A isoformmyosin, light chain 6B, alkali, smooth muscle and non-musclemyosin, light polypeptide 6B, alkali, smooth muscle and novon Willebrand factor A domain-containing protein 3A
Modification date2018051920180331
UniProtAcc

P14649

A6NCI4

Ensembl transtripts involved in fusion geneENST00000553066, ENST00000550443, 
ENST00000207437, ENST00000552568, 
ENST00000550152, 
ENST00000389397, 
ENST00000389398, ENST00000563755, 
Fusion gene scores* DoF score2 X 2 X 2=83 X 5 X 4=60
# samples 25
** MAII scorelog2(2/8*10)=1.32192809488736log2(5/60*10)=-0.263034405833794
possibly effective Gene in Pan-Cancer Fusion Genes (peGinPCFGs).
DoF>8 and MAII<0
Context

PubMed: MYL6B [Title/Abstract] AND VWA3A [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

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
TCGARVGBMTCGA-06-0156-01AMYL6Bchr12

56547876

+VWA3Achr16

22161108

+
* 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
Frame-shiftENST00000553066ENST00000389397MYL6Bchr12

56547876

+VWA3Achr16

22161108

+
Frame-shiftENST00000553066ENST00000389398MYL6Bchr12

56547876

+VWA3Achr16

22161108

+
Frame-shiftENST00000553066ENST00000563755MYL6Bchr12

56547876

+VWA3Achr16

22161108

+
Frame-shiftENST00000550443ENST00000389397MYL6Bchr12

56547876

+VWA3Achr16

22161108

+
Frame-shiftENST00000550443ENST00000389398MYL6Bchr12

56547876

+VWA3Achr16

22161108

+
Frame-shiftENST00000550443ENST00000563755MYL6Bchr12

56547876

+VWA3Achr16

22161108

+
Frame-shiftENST00000207437ENST00000389397MYL6Bchr12

56547876

+VWA3Achr16

22161108

+
Frame-shiftENST00000207437ENST00000389398MYL6Bchr12

56547876

+VWA3Achr16

22161108

+
Frame-shiftENST00000207437ENST00000563755MYL6Bchr12

56547876

+VWA3Achr16

22161108

+
Frame-shiftENST00000552568ENST00000389397MYL6Bchr12

56547876

+VWA3Achr16

22161108

+
Frame-shiftENST00000552568ENST00000389398MYL6Bchr12

56547876

+VWA3Achr16

22161108

+
Frame-shiftENST00000552568ENST00000563755MYL6Bchr12

56547876

+VWA3Achr16

22161108

+
3UTR-3CDSENST00000550152ENST00000389397MYL6Bchr12

56547876

+VWA3Achr16

22161108

+
3UTR-3CDSENST00000550152ENST00000389398MYL6Bchr12

56547876

+VWA3Achr16

22161108

+
3UTR-3CDSENST00000550152ENST00000563755MYL6Bchr12

56547876

+VWA3Achr16

22161108

+

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FusionProtFeatures for MYL6B_VWA3A


check buttonMain function of each fusion partner protein. (from UniProt)
HgeneTgene
MYL6B

P14649

VWA3A

A6NCI4

Regulatory light chain of myosin. Does not bind calcium.

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 MYL6B_VWA3A


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 MYL6B_VWA3A


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
MYL6BIQGAP1, TCF3, SP1, CUL1, MYL6, C11orf58, ESR1, PAN2, CEP57, CEP76, HUWE1, SPA17, CCDC8, RNF2, CAPZA2, MYH9, PDLIM7, ANLN, MYO19, MYO18A, RAC1, CALM1, UBE2AVWA3A


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 MYL6B_VWA3A


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 MYL6B_VWA3A


check button Diseases associated with fusion partners.
(DisGeNet 4.0)
PartnerGeneDisease IDDisease name# pubmedsSource
HgeneMYL6BC0022548Keloid1CTD_human
TgeneVWA3AC0005695Bladder Neoplasm1CTD_human