FusionGDB Logo

Home

Download

Statistics

Examples

Help

Contact
Center for Computational Systems Medicine
leaf

FusionGeneSummary

leaf

FusionProtFeature

leaf

FusionGeneSequence

leaf

FusionGenePPI

leaf

RelatedDrugs

leaf

RelatedDiseases

Fusion gene ID: 23148

FusionGeneSummary for MYO1E_C9orf3

check button Fusion gene summary
Fusion gene informationFusion gene name: MYO1E_C9orf3
Fusion gene ID: 23148
HgeneTgene
Gene symbol

MYO1E

C9orf3

Gene ID

4643

84909

Gene namemyosin IEchromosome 9 open reading frame 3
SynonymsFSGS6|HuncM-IC|MYO1CAOPEP|AP-O|APO|C90RF3|ONPEP
Cytomap

15q22.2

9q22.32

Type of geneprotein-codingprotein-coding
Descriptionunconventional myosin-IeMYO1E variant proteinmyosin-ICunconventional myosin 1Eaminopeptidase O
Modification date2018051920180523
UniProtAcc

Q12965

Ensembl transtripts involved in fusion geneENST00000288235, ENST00000558814, 
ENST00000277198, ENST00000297979, 
ENST00000375315, ENST00000395357, 
ENST00000425634, ENST00000433691, 
ENST00000473778, 
Fusion gene scores* DoF score11 X 8 X 8=7048 X 4 X 7=224
# samples 128
** MAII scorelog2(12/704*10)=-2.55254102302878
possibly effective Gene in Pan-Cancer Fusion Genes (peGinPCFGs).
DoF>8 and MAII<0		log2(8/224*10)=-1.48542682717024
possibly effective Gene in Pan-Cancer Fusion Genes (peGinPCFGs).
DoF>8 and MAII<0
Context

PubMed: MYO1E [Title/Abstract] AND C9orf3 [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
TgeneC9orf3

GO:0006508

proteolysis

15687497


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
TCGARVPRADTCGA-ZG-A9L5-01AMYO1Echr15

59548483

-C9orf3chr9

97822976

+
* 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
5CDS-intronENST00000288235ENST00000277198MYO1Echr15

59548483

-C9orf3chr9

97822976

+
5CDS-intronENST00000288235ENST00000297979MYO1Echr15

59548483

-C9orf3chr9

97822976

+
5CDS-intronENST00000288235ENST00000375315MYO1Echr15

59548483

-C9orf3chr9

97822976

+
5CDS-intronENST00000288235ENST00000395357MYO1Echr15

59548483

-C9orf3chr9

97822976

+
5CDS-intronENST00000288235ENST00000425634MYO1Echr15

59548483

-C9orf3chr9

97822976

+
5CDS-intronENST00000288235ENST00000433691MYO1Echr15

59548483

-C9orf3chr9

97822976

+
5CDS-intronENST00000288235ENST00000473778MYO1Echr15

59548483

-C9orf3chr9

97822976

+
5UTR-intronENST00000558814ENST00000277198MYO1Echr15

59548483

-C9orf3chr9

97822976

+
5UTR-intronENST00000558814ENST00000297979MYO1Echr15

59548483

-C9orf3chr9

97822976

+
5UTR-intronENST00000558814ENST00000375315MYO1Echr15

59548483

-C9orf3chr9

97822976

+
5UTR-intronENST00000558814ENST00000395357MYO1Echr15

59548483

-C9orf3chr9

97822976

+
5UTR-intronENST00000558814ENST00000425634MYO1Echr15

59548483

-C9orf3chr9

97822976

+
5UTR-intronENST00000558814ENST00000433691MYO1Echr15

59548483

-C9orf3chr9

97822976

+
5UTR-intronENST00000558814ENST00000473778MYO1Echr15

59548483

-C9orf3chr9

97822976

+

Top

FusionProtFeatures for MYO1E_C9orf3


check buttonMain function of each fusion partner protein. (from UniProt)
HgeneTgene
MYO1E

Q12965

C9orf3

Myosins are actin-based motor molecules with ATPaseactivity. Unconventional myosins serve in intracellular movements.Their highly divergent tails bind to membranous compartments,which are then moved relative to actin filaments. Binds tomembranes containing anionic phospholipids via its tail domain.Required for normal morphology of the glomerular basementmembrane, normal development of foot processes by kidney podocytesand normal kidney function. In dendritic cells, may control themovement of class II-containing cytoplasmic vesicles along theactin cytoskeleton by connecting them with the actin network viaARL14EP and ARL14. {ECO:0000269|PubMed:11940582,ECO:0000269|PubMed:17257598, ECO:0000269|PubMed:20860408}. Lectin that binds to various sugars: galactose > mannose= fucose > N-acetylglucosamine > N-acetylgalactosamine(PubMed:10224141). Acts as a chemoattractant, probably involved inthe regulation of cell migration (PubMed:28301481).{ECO:0000269|PubMed:10224141, ECO:0000269|PubMed:28301481}.

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


Top

FusionGeneSequence for MYO1E_C9orf3


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).

Top

FusionGenePPI for MYO1E_C9orf3


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
MYO1EEMD, SP1, CUL1, DIAPH1, MOV10, DTNA, ILF3, MYH11, RNF20, PAN2, ASNS, ATIC, CAPNS1, ISOC1, MCTS1, STK26, OGFOD1, PAFAH1B1, PDIA4, PROSC, SNRPF, TBCB, YWHAH, RPA1, RPA2, RPA3, ENO1, SHMT2, NXF1, ARPC4-TTLL3, ARPC4, CAND1, MYH9, CTTN, FNBP1, LGALS3, STMN1, MYO5A, PPA1, SRPK2, CAPZA2, DBN1, FLNA, PDGFRB, PPP1CB, IQGAP1, SLC33A1, PDLIM7, SYNPO, MAPRE1, LIMA1, ANLN, MYO5C, MYO19, MYO18A, ZNF764, OSTF1, UNC45A, RAC1, TRIM25C9orf3SUN2, LRRC40, ZDHHC17, TUBA4A, SUZ12, TUBB3


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

RelatedDrugs for MYO1E_C9orf3


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

Top

RelatedDiseases for MYO1E_C9orf3


check button Diseases associated with fusion partners.
(DisGeNet 4.0)
PartnerGeneDisease IDDisease name# pubmedsSource
HgeneMYO1EC3279905FOCAL SEGMENTAL GLOMERULOSCLEROSIS 61UNIPROT
TgeneC9orf3C0004238Atrial Fibrillation1CTD_human
TgeneC9orf3C0032927Precancerous Conditions1CTD_human
TgeneC9orf3C3495559Juvenile arthritis1CTD_human