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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: 23026

FusionGeneSummary for MYH9_SERPINA1

check button Fusion gene summary
Fusion gene informationFusion gene name: MYH9_SERPINA1
Fusion gene ID: 23026
HgeneTgene
Gene symbol

MYH9

SERPINA1

Gene ID

4627

5265

Gene namemyosin heavy chain 9serpin family A member 1
SynonymsBDPLT6|DFNA17|EPSTS|FTNS|MHA|NMHC-II-A|NMMHC-IIA|NMMHCAA1A|A1AT|AAT|PI|PI1|PRO2275|alpha1AT|nNIF
Cytomap

22q12.3

14q32.13

Type of geneprotein-codingprotein-coding
Descriptionmyosin-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-Aalpha-1-antitrypsinalpha-1 antitrypsinalpha-1 protease inhibitoralpha-1-antiproteinasealpha-1-antitrypsin nullalpha-1-antitrypsin short transcript variant 1C4alpha-1-antitrypsin short transcript variant 1C5protease inhibitor 1 (anti-elastase), alph
Modification date2018052220180523
UniProtAcc

P35579

P01009

Ensembl transtripts involved in fusion geneENST00000216181, ENST00000475726, 
ENST00000401701, 		ENST00000440909, 
ENST00000448921, ENST00000437397, 
ENST00000355814, ENST00000393087, 
ENST00000393088, ENST00000404814, 
ENST00000449399, ENST00000402629, 
ENST00000555289, 
Fusion gene scores* DoF score36 X 33 X 15=178209 X 9 X 3=243
# samples 5013
** MAII scorelog2(50/17820*10)=-5.1554254317472
possibly effective Gene in Pan-Cancer Fusion Genes (peGinPCFGs).
DoF>8 and MAII<0		log2(13/243*10)=-0.902444690577326
possibly effective Gene in Pan-Cancer Fusion Genes (peGinPCFGs).
DoF>8 and MAII<0
Context

PubMed: MYH9 [Title/Abstract] AND SERPINA1 [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
HgeneMYH9

GO:0001525

angiogenesis

16403913

HgeneMYH9

GO:0006509

membrane protein ectodomain proteolysis

16186248

HgeneMYH9

GO:0030048

actin filament-based movement

12237319|15845534

HgeneMYH9

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
ChiTaRS3.1BQ181873MYH9chr22

36677537

+SERPINA1chr14

94849113

-
* 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-3CDSENST00000216181ENST00000440909MYH9chr22

36677537

+SERPINA1chr14

94849113

-
intron-3CDSENST00000216181ENST00000448921MYH9chr22

36677537

+SERPINA1chr14

94849113

-
intron-3CDSENST00000216181ENST00000437397MYH9chr22

36677537

+SERPINA1chr14

94849113

-
intron-3CDSENST00000216181ENST00000355814MYH9chr22

36677537

+SERPINA1chr14

94849113

-
intron-3CDSENST00000216181ENST00000393087MYH9chr22

36677537

+SERPINA1chr14

94849113

-
intron-3CDSENST00000216181ENST00000393088MYH9chr22

36677537

+SERPINA1chr14

94849113

-
intron-3CDSENST00000216181ENST00000404814MYH9chr22

36677537

+SERPINA1chr14

94849113

-
intron-3CDSENST00000216181ENST00000449399MYH9chr22

36677537

+SERPINA1chr14

94849113

-
intron-3CDSENST00000216181ENST00000402629MYH9chr22

36677537

+SERPINA1chr14

94849113

-
intron-intronENST00000216181ENST00000555289MYH9chr22

36677537

+SERPINA1chr14

94849113

-
intron-3CDSENST00000475726ENST00000440909MYH9chr22

36677537

+SERPINA1chr14

94849113

-
intron-3CDSENST00000475726ENST00000448921MYH9chr22

36677537

+SERPINA1chr14

94849113

-
intron-3CDSENST00000475726ENST00000437397MYH9chr22

36677537

+SERPINA1chr14

94849113

-
intron-3CDSENST00000475726ENST00000355814MYH9chr22

36677537

+SERPINA1chr14

94849113

-
intron-3CDSENST00000475726ENST00000393087MYH9chr22

36677537

+SERPINA1chr14

94849113

-
intron-3CDSENST00000475726ENST00000393088MYH9chr22

36677537

+SERPINA1chr14

94849113

-
intron-3CDSENST00000475726ENST00000404814MYH9chr22

36677537

+SERPINA1chr14

94849113

-
intron-3CDSENST00000475726ENST00000449399MYH9chr22

36677537

+SERPINA1chr14

94849113

-
intron-3CDSENST00000475726ENST00000402629MYH9chr22

36677537

+SERPINA1chr14

94849113

-
intron-intronENST00000475726ENST00000555289MYH9chr22

36677537

+SERPINA1chr14

94849113

-
intron-3CDSENST00000401701ENST00000440909MYH9chr22

36677537

+SERPINA1chr14

94849113

-
intron-3CDSENST00000401701ENST00000448921MYH9chr22

36677537

+SERPINA1chr14

94849113

-
intron-3CDSENST00000401701ENST00000437397MYH9chr22

36677537

+SERPINA1chr14

94849113

-
intron-3CDSENST00000401701ENST00000355814MYH9chr22

36677537

+SERPINA1chr14

94849113

-
intron-3CDSENST00000401701ENST00000393087MYH9chr22

36677537

+SERPINA1chr14

94849113

-
intron-3CDSENST00000401701ENST00000393088MYH9chr22

36677537

+SERPINA1chr14

94849113

-
intron-3CDSENST00000401701ENST00000404814MYH9chr22

36677537

+SERPINA1chr14

94849113

-
intron-3CDSENST00000401701ENST00000449399MYH9chr22

36677537

+SERPINA1chr14

94849113

-
intron-3CDSENST00000401701ENST00000402629MYH9chr22

36677537

+SERPINA1chr14

94849113

-
intron-intronENST00000401701ENST00000555289MYH9chr22

36677537

+SERPINA1chr14

94849113

-

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FusionProtFeatures for MYH9_SERPINA1


check buttonMain function of each fusion partner protein. (from UniProt)
HgeneTgene
MYH9

P35579

SERPINA1

P01009

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


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FusionGeneSequence for MYH9_SERPINA1


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 MYH9_SERPINA1


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 MYH9_SERPINA1


check button Drugs targeting genes involved in this fusion gene.
(DrugBank Version 5.1.0 2018-04-02)
PartnerGeneUniProtAccDrugBank IDDrug nameDrug activityDrug typeDrug status
HgeneMYH9P35579DB11638ArtenimolMyosin-9small moleculeapproved|investigational
TgeneSERPINA1P01009DB01593ZincAlpha-1-antitrypsinsmall moleculeapproved|investigational

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RelatedDiseases for MYH9_SERPINA1


check button Diseases associated with fusion partners.
(DisGeNet 4.0)
PartnerGeneDisease IDDisease name# pubmedsSource
HgeneMYH9C0403445Fechtner syndrome (disorder)9UNIPROT
HgeneMYH9C0398641Epstein syndrome (disorder)7UNIPROT
HgeneMYH9C0340978May-Hegglin anomaly6UNIPROT
HgeneMYH9C0022661Kidney Failure, Chronic2CTD_human
HgeneMYH9C1854520SEBASTIAN SYNDROME2CTD_human;ORPHANET;UNIPROT
HgeneMYH9C0017668Focal glomerulosclerosis1CTD_human
HgeneMYH9C0020544Renal hypertension1CTD_human
HgeneMYH9C0027706Hereditary nephritis1CTD_human
HgeneMYH9C0036341Schizophrenia1PSYGENET
HgeneMYH9C1863659DEAFNESS, AUTOSOMAL DOMINANT 171UNIPROT
HgeneMYH9C2673482Increased susceptibility to schizophrenia1PSYGENET
TgeneSERPINA1C0023895Liver diseases6CTD_human
TgeneSERPINA1C0023890Liver Cirrhosis3CTD_human
TgeneSERPINA1C0005586Bipolar Disorder2CTD_human;PSYGENET
TgeneSERPINA1C0024117Chronic Obstructive Airway Disease2CTD_human;HPO
TgeneSERPINA1C0030328Panniculitis, Nodular Nonsuppurative2CTD_human
TgeneSERPINA1C0221757alpha 1-Antitrypsin Deficiency2CTD_human;ORPHANET
TgeneSERPINA1C0525045Mood Disorders2PSYGENET
TgeneSERPINA1C2239176Liver carcinoma2CTD_human;HPO
TgeneSERPINA1C0001418Adenocarcinoma1CTD_human
TgeneSERPINA1C0003469Anxiety Disorders1CTD_human
TgeneSERPINA1C0003850Arteriosclerosis1CTD_human
TgeneSERPINA1C0003949Asbestosis1CTD_human
TgeneSERPINA1C0006267Bronchiectasis1CTD_human
TgeneSERPINA1C0008370Cholestasis1CTD_human
TgeneSERPINA1C0013990Pathological accumulation of air in tissues1CTD_human
TgeneSERPINA1C0019080Hemorrhage1CTD_human
TgeneSERPINA1C0019693HIV Infections1CTD_human
TgeneSERPINA1C0020615Hypoglycemia1CTD_human
TgeneSERPINA1C0024115Lung diseases1CTD_human
TgeneSERPINA1C0024121Lung Neoplasms1CTD_human
TgeneSERPINA1C0027627Neoplasm Metastasis1CTD_human
TgeneSERPINA1C0034067Pulmonary Emphysema1CTD_human;HPO
TgeneSERPINA1C0034069Pulmonary Fibrosis1CTD_human
TgeneSERPINA1C0038356Stomach Neoplasms1CTD_human
TgeneSERPINA1C0039841Thiamine Deficiency1CTD_human
TgeneSERPINA1C0042384Vasculitis1CTD_human
TgeneSERPINA1C0524851Neurodegenerative Disorders1CTD_human