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: 29280

FusionGeneSummary for PTCHD3P1_MYH9

check button Fusion gene summary
Fusion gene informationFusion gene name: PTCHD3P1_MYH9
Fusion gene ID: 29280
HgeneTgene
Gene symbol

PTCHD3P1

MYH9

Gene ID

387647

4627

Gene namepatched domain containing 3 pseudogene 1myosin heavy chain 9
Synonyms-BDPLT6|DFNA17|EPSTS|FTNS|MHA|NMHC-II-A|NMMHC-IIA|NMMHCA
Cytomap

10p11.23

22q12.3

Type of genepseudoprotein-coding
Description-myosin-9cellular myosin heavy chain, type Amyosin, heavy chain 9, non-musclenon-muscle myosin heavy chain 9non-muscle myosin heavy chain Anon-muscle myosin heavy chain IIanon-muscle myosin heavy polypeptide 9nonmuscle myosin heavy chain II-A
Modification date2018032920180522
UniProtAcc

P35579

Ensembl transtripts involved in fusion geneENST00000413405, ENST00000414457, 
ENST00000446807, ENST00000423223, 
ENST00000445521, ENST00000455774, 
ENST00000430295, ENST00000608994, 
ENST00000609413, ENST00000537908, 
ENST00000427063, ENST00000438202, 
ENST00000216181, ENST00000475726, 
ENST00000401701, 
Fusion gene scores* DoF score3 X 3 X 1=923 X 25 X 7=4025
# samples 328
** MAII scorelog2(3/9*10)=1.73696559416621
effective Gene in Pan-Cancer Fusion Genes (eGinPCFGs).
DoF>8 and MAII>0		log2(28/4025*10)=-3.84549005094438
possibly effective Gene in Pan-Cancer Fusion Genes (peGinPCFGs).
DoF>8 and MAII<0
Context

PubMed: PTCHD3P1 [Title/Abstract] AND MYH9 [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
TgeneMYH9

GO:0001525

angiogenesis

16403913

TgeneMYH9

GO:0006509

membrane protein ectodomain proteolysis

16186248

TgeneMYH9

GO:0030048

actin filament-based movement

12237319|15845534

TgeneMYH9

GO:0031032

actomyosin structure organization

24072716


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
ChiTaRS3.1AI394628PTCHD3P1chr10

29749125

-MYH9chr22

36691626

+
* 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-3CDSENST00000413405ENST00000216181PTCHD3P1chr10

29749125

-MYH9chr22

36691626

+
intron-intronENST00000413405ENST00000475726PTCHD3P1chr10

29749125

-MYH9chr22

36691626

+
intron-intronENST00000413405ENST00000401701PTCHD3P1chr10

29749125

-MYH9chr22

36691626

+
intron-3CDSENST00000414457ENST00000216181PTCHD3P1chr10

29749125

-MYH9chr22

36691626

+
intron-intronENST00000414457ENST00000475726PTCHD3P1chr10

29749125

-MYH9chr22

36691626

+
intron-intronENST00000414457ENST00000401701PTCHD3P1chr10

29749125

-MYH9chr22

36691626

+
intron-3CDSENST00000446807ENST00000216181PTCHD3P1chr10

29749125

-MYH9chr22

36691626

+
intron-intronENST00000446807ENST00000475726PTCHD3P1chr10

29749125

-MYH9chr22

36691626

+
intron-intronENST00000446807ENST00000401701PTCHD3P1chr10

29749125

-MYH9chr22

36691626

+
intron-3CDSENST00000423223ENST00000216181PTCHD3P1chr10

29749125

-MYH9chr22

36691626

+
intron-intronENST00000423223ENST00000475726PTCHD3P1chr10

29749125

-MYH9chr22

36691626

+
intron-intronENST00000423223ENST00000401701PTCHD3P1chr10

29749125

-MYH9chr22

36691626

+
intron-3CDSENST00000445521ENST00000216181PTCHD3P1chr10

29749125

-MYH9chr22

36691626

+
intron-intronENST00000445521ENST00000475726PTCHD3P1chr10

29749125

-MYH9chr22

36691626

+
intron-intronENST00000445521ENST00000401701PTCHD3P1chr10

29749125

-MYH9chr22

36691626

+
intron-3CDSENST00000455774ENST00000216181PTCHD3P1chr10

29749125

-MYH9chr22

36691626

+
intron-intronENST00000455774ENST00000475726PTCHD3P1chr10

29749125

-MYH9chr22

36691626

+
intron-intronENST00000455774ENST00000401701PTCHD3P1chr10

29749125

-MYH9chr22

36691626

+
intron-3CDSENST00000430295ENST00000216181PTCHD3P1chr10

29749125

-MYH9chr22

36691626

+
intron-intronENST00000430295ENST00000475726PTCHD3P1chr10

29749125

-MYH9chr22

36691626

+
intron-intronENST00000430295ENST00000401701PTCHD3P1chr10

29749125

-MYH9chr22

36691626

+
intron-3CDSENST00000608994ENST00000216181PTCHD3P1chr10

29749125

-MYH9chr22

36691626

+
intron-intronENST00000608994ENST00000475726PTCHD3P1chr10

29749125

-MYH9chr22

36691626

+
intron-intronENST00000608994ENST00000401701PTCHD3P1chr10

29749125

-MYH9chr22

36691626

+
intron-3CDSENST00000609413ENST00000216181PTCHD3P1chr10

29749125

-MYH9chr22

36691626

+
intron-intronENST00000609413ENST00000475726PTCHD3P1chr10

29749125

-MYH9chr22

36691626

+
intron-intronENST00000609413ENST00000401701PTCHD3P1chr10

29749125

-MYH9chr22

36691626

+
intron-3CDSENST00000537908ENST00000216181PTCHD3P1chr10

29749125

-MYH9chr22

36691626

+
intron-intronENST00000537908ENST00000475726PTCHD3P1chr10

29749125

-MYH9chr22

36691626

+
intron-intronENST00000537908ENST00000401701PTCHD3P1chr10

29749125

-MYH9chr22

36691626

+
intron-3CDSENST00000427063ENST00000216181PTCHD3P1chr10

29749125

-MYH9chr22

36691626

+
intron-intronENST00000427063ENST00000475726PTCHD3P1chr10

29749125

-MYH9chr22

36691626

+
intron-intronENST00000427063ENST00000401701PTCHD3P1chr10

29749125

-MYH9chr22

36691626

+
intron-3CDSENST00000438202ENST00000216181PTCHD3P1chr10

29749125

-MYH9chr22

36691626

+
intron-intronENST00000438202ENST00000475726PTCHD3P1chr10

29749125

-MYH9chr22

36691626

+
intron-intronENST00000438202ENST00000401701PTCHD3P1chr10

29749125

-MYH9chr22

36691626

+

Top

FusionProtFeatures for PTCHD3P1_MYH9


check buttonMain function of each fusion partner protein. (from UniProt)
HgeneTgene
PTCHD3P1

MYH9

P35579

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}. Cellular myosin that appears to play a role incytokinesis, cell shape, and specialized functions such assecretion and capping. During cell spreading, plays an importantrole in cytoskeleton reorganization, focal contacts formation (inthe margins but not the central part of spreading cells), andlamellipodial retraction; this function is mechanicallyantagonized by MYH10. {ECO:0000269|PubMed:20052411}.

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 PTCHD3P1_MYH9


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 PTCHD3P1_MYH9


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

RelatedDrugs for PTCHD3P1_MYH9


check button Drugs targeting genes involved in this fusion gene.
(DrugBank Version 5.1.0 2018-04-02)
PartnerGeneUniProtAccDrugBank IDDrug nameDrug activityDrug typeDrug status
TgeneMYH9P35579DB11638ArtenimolMyosin-9small moleculeapproved|investigational

Top

RelatedDiseases for PTCHD3P1_MYH9


check button Diseases associated with fusion partners.
(DisGeNet 4.0)
PartnerGeneDisease IDDisease name# pubmedsSource
TgeneMYH9C0403445Fechtner syndrome (disorder)9UNIPROT
TgeneMYH9C0398641Epstein syndrome (disorder)7UNIPROT
TgeneMYH9C0340978May-Hegglin anomaly6UNIPROT
TgeneMYH9C0022661Kidney Failure, Chronic2CTD_human
TgeneMYH9C1854520SEBASTIAN SYNDROME2CTD_human;ORPHANET;UNIPROT
TgeneMYH9C0017668Focal glomerulosclerosis1CTD_human
TgeneMYH9C0020544Renal hypertension1CTD_human
TgeneMYH9C0027706Hereditary nephritis1CTD_human
TgeneMYH9C0036341Schizophrenia1PSYGENET
TgeneMYH9C1863659DEAFNESS, AUTOSOMAL DOMINANT 171UNIPROT
TgeneMYH9C2673482Increased susceptibility to schizophrenia1PSYGENET