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: 35040

FusionGeneSummary for SMYD4_SERPINF1

check button Fusion gene summary
Fusion gene informationFusion gene name: SMYD4_SERPINF1
Fusion gene ID: 35040
HgeneTgene
Gene symbol

SMYD4

SERPINF1

Gene ID

114826

5176

Gene nameSET and MYND domain containing 4serpin family F member 1
SynonymsZMYND21EPC-1|OI12|OI6|PEDF|PIG35
Cytomap

17p13.3

17p13.3

Type of geneprotein-codingprotein-coding
DescriptionSET and MYND domain-containing protein 4pigment epithelium-derived factoralpha-2 antiplasmincell proliferation-inducing gene 35 proteinserine (or cysteine) proteinase inhibitor, clade F (alpha-2 antiplasmin, pigment epithelium derived factor), member 1serpin peptidase inhibitor, clade F (al
Modification date2018051920180527
UniProtAcc

Q8IYR2

P36955

Ensembl transtripts involved in fusion geneENST00000305513, ENST00000254722, 
ENST00000571870, 
Fusion gene scores* DoF score4 X 3 X 4=483 X 3 X 2=18
# samples 43
** MAII scorelog2(4/48*10)=-0.263034405833794
possibly effective Gene in Pan-Cancer Fusion Genes (peGinPCFGs).
DoF>8 and MAII<0
log2(3/18*10)=0.736965594166206
effective Gene in Pan-Cancer Fusion Genes (eGinPCFGs).
DoF>8 and MAII>0
Context

PubMed: SMYD4 [Title/Abstract] AND SERPINF1 [Title/Abstract] AND fusion [Title/Abstract]

Functional or gene categories assigned by FusionGDB annotationTumor suppressor gene involved fusion gene, in-frame but not retained their domain.
* 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
TgeneSERPINF1

GO:0016525

negative regulation of angiogenesis

11562499

TgeneSERPINF1

GO:0050769

positive regulation of neurogenesis

8226833


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
TCGARVSTADTCGA-CG-4462-01ASMYD4chr17

1715265

-SERPINF1chr17

1673146

+
* 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
In-frameENST00000305513ENST00000254722SMYD4chr17

1715265

-SERPINF1chr17

1673146

+
5CDS-3UTRENST00000305513ENST00000571870SMYD4chr17

1715265

-SERPINF1chr17

1673146

+

Top

FusionProtFeatures for SMYD4_SERPINF1


check buttonMain function of each fusion partner protein. (from UniProt)
HgeneTgene
SMYD4

Q8IYR2

SERPINF1

P36955

Neurotrophic protein; induces extensive neuronaldifferentiation in retinoblastoma cells. Potent inhibitor ofangiogenesis. As it does not undergo the S (stressed) to R(relaxed) conformational transition characteristic of activeserpins, it exhibits no serine protease inhibitory activity.{ECO:0000269|PubMed:7592790, ECO:0000269|PubMed:8226833}.

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
TgeneSERPINF1chr17:1715265chr17:1673146ENST00000254722+18371_38328419RegionNote=O-glycosylated at one site

- In-frame and not-retained protein feature among the 13 regional features.
>>>>
PartnerGeneHbpTbpENSTStrandBPexonTotalExonProtein feature loci*BPlociTotalLenProtein featureProtein feature note
HgeneSMYD4chr17:1715265chr17:1673146ENST00000305513-311233_57493805DomainSET
HgeneSMYD4chr17:1715265chr17:1673146ENST00000305513-311112_11493805RegionS-adenosyl-L-methionine binding
HgeneSMYD4chr17:1715265chr17:1673146ENST00000305513-311539_54093805RegionS-adenosyl-L-methionine binding
HgeneSMYD4chr17:1715265chr17:1673146ENST00000305513-311296_33593805Zinc fingerMYND-type


Top

FusionGeneSequence for SMYD4_SERPINF1


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 SMYD4_SERPINF1


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
SMYD4GYPB, UBC, EAPP, TRIM25SERPINF1NEDD4L, MYOC, MLH1, PNPLA2, LRP6, EPM2AIP1, SERPINA6, TMEM25, L3MBTL2, KLHL8, TUBA4A, HSPA5, PTPN11


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 SMYD4_SERPINF1


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 SMYD4_SERPINF1


check button Diseases associated with fusion partners.
(DisGeNet 4.0)
PartnerGeneDisease IDDisease name# pubmedsSource
HgeneSMYD4C0025149Medulloblastoma1CTD_human
TgeneSERPINF1C0010043Corneal Ulcer1CTD_human
TgeneSERPINF1C0010606Adenoid Cystic Carcinoma1CTD_human
TgeneSERPINF1C0011875Diabetic Angiopathies1CTD_human
TgeneSERPINF1C0022548Keloid1CTD_human
TgeneSERPINF1C0033578Prostatic Neoplasms1CTD_human
TgeneSERPINF1C0036095Salivary Gland Neoplasms1CTD_human
TgeneSERPINF1C0042164Uveitis1CTD_human