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Fusion gene ID: 35040 |
FusionGeneSummary for SMYD4_SERPINF1 |
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Fusion gene information | Fusion gene name: SMYD4_SERPINF1 | Fusion gene ID: 35040 | Hgene | Tgene | Gene symbol | SMYD4 | SERPINF1 | Gene ID | 114826 | 5176 |
Gene name | SET and MYND domain containing 4 | serpin family F member 1 | |
Synonyms | ZMYND21 | EPC-1|OI12|OI6|PEDF|PIG35 | |
Cytomap | 17p13.3 | 17p13.3 | |
Type of gene | protein-coding | protein-coding | |
Description | SET and MYND domain-containing protein 4 | pigment 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 date | 20180519 | 20180527 | |
UniProtAcc | Q8IYR2 | P36955 | |
Ensembl transtripts involved in fusion gene | ENST00000305513, | ENST00000254722, ENST00000571870, | |
Fusion gene scores | * DoF score | 4 X 3 X 4=48 | 3 X 3 X 2=18 |
# samples | 4 | 3 | |
** MAII score | log2(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 annotation | Tumor 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) |
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Partner | Gene | GO ID | GO term | PubMed ID |
Tgene | SERPINF1 | GO:0016525 | negative regulation of angiogenesis | 11562499 |
Tgene | SERPINF1 | GO:0050769 | positive regulation of neurogenesis | 8226833 |
![]() (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 type | Source | Cancer type | Sample | Hgene | Hchr | Hbp | Hstrand | Tgene | Tchr | Tbp | Tstrand |
TCGA | RV | STAD | TCGA-CG-4462-01A | SMYD4 | chr17 | 1715265 | - | SERPINF1 | chr17 | 1673146 | + |
* LD: Li Ding group's fusion gene list RV: Roel Verhaak group's fusion gene list ChiTaRs fusion database |
![]() * Click on the break point to see the gene structure around the break point region using the UCSC Genome Browser. |
ORF | Henst | Tenst | Hgene | Hchr | Hbp | Hstrand | Tgene | Tchr | Tbp | Tstrand |
In-frame | ENST00000305513 | ENST00000254722 | SMYD4 | chr17 | 1715265 | - | SERPINF1 | chr17 | 1673146 | + |
5CDS-3UTR | ENST00000305513 | ENST00000571870 | SMYD4 | chr17 | 1715265 | - | SERPINF1 | chr17 | 1673146 | + |
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FusionProtFeatures for SMYD4_SERPINF1 |
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Hgene | Tgene |
SMYD4 | SERPINF1 |
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}. |
![]() * 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. |
Partner | Gene | Hbp | Tbp | ENST | Strand | BPexon | TotalExon | Protein feature loci | *BPloci | TotalLen | Protein feature | Protein feature note |
Tgene | >SERPINF1 | chr17:1715265 | chr17:1673146 | ENST00000254722 | + | 1 | 8 | 371_383 | 28 | 419 | Region | Note=O-glycosylated at one site |
- In-frame and not-retained protein feature among the 13 regional features. |
Partner | Gene | Hbp | Tbp | ENST | Strand | BPexon | TotalExon | Protein feature loci | *BPloci | TotalLen | Protein feature | Protein feature note |
Hgene | >SMYD4 | chr17:1715265 | chr17:1673146 | ENST00000305513 | - | 3 | 11 | 233_574 | 93 | 805 | Domain | SET |
Hgene | >SMYD4 | chr17:1715265 | chr17:1673146 | ENST00000305513 | - | 3 | 11 | 112_114 | 93 | 805 | Region | S-adenosyl-L-methionine binding |
Hgene | >SMYD4 | chr17:1715265 | chr17:1673146 | ENST00000305513 | - | 3 | 11 | 539_540 | 93 | 805 | Region | S-adenosyl-L-methionine binding |
Hgene | >SMYD4 | chr17:1715265 | chr17:1673146 | ENST00000305513 | - | 3 | 11 | 296_335 | 93 | 805 | Zinc finger | MYND-type |
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FusionGeneSequence for SMYD4_SERPINF1 |
![]() (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 SMYD4_SERPINF1 |
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Hgene | Hgene's interactors | Tgene | Tgene's interactors |
SMYD4 | GYPB, UBC, EAPP, TRIM25 | SERPINF1 | NEDD4L, MYOC, MLH1, PNPLA2, LRP6, EPM2AIP1, SERPINA6, TMEM25, L3MBTL2, KLHL8, TUBA4A, HSPA5, PTPN11 |
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Partner | Gene | Hbp | Tbp | ENST | Strand | BPexon | TotalExon | Protein feature loci | *BPloci | TotalLen | Still interaction with |
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Partner | Gene | Hbp | Tbp | ENST | Strand | BPexon | TotalExon | Protein feature loci | *BPloci | TotalLen | Interaction lost with |
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Partner | Gene | Hbp | Tbp | ENST | Strand | BPexon | TotalExon | Protein feature loci | *BPloci | TotalLen | Interaction lost with |
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RelatedDrugs for SMYD4_SERPINF1 |
![]() (DrugBank Version 5.1.0 2018-04-02) |
Partner | Gene | UniProtAcc | DrugBank ID | Drug name | Drug activity | Drug type | Drug status |
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RelatedDiseases for SMYD4_SERPINF1 |
![]() (DisGeNet 4.0) |
Partner | Gene | Disease ID | Disease name | # pubmeds | Source |
Hgene | SMYD4 | C0025149 | Medulloblastoma | 1 | CTD_human |
Tgene | SERPINF1 | C0010043 | Corneal Ulcer | 1 | CTD_human |
Tgene | SERPINF1 | C0010606 | Adenoid Cystic Carcinoma | 1 | CTD_human |
Tgene | SERPINF1 | C0011875 | Diabetic Angiopathies | 1 | CTD_human |
Tgene | SERPINF1 | C0022548 | Keloid | 1 | CTD_human |
Tgene | SERPINF1 | C0033578 | Prostatic Neoplasms | 1 | CTD_human |
Tgene | SERPINF1 | C0036095 | Salivary Gland Neoplasms | 1 | CTD_human |
Tgene | SERPINF1 | C0042164 | Uveitis | 1 | CTD_human |