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Fusion gene ID: 41701 |
FusionGeneSummary for VWCE_SH3D19 |
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Fusion gene information | Fusion gene name: VWCE_SH3D19 | Fusion gene ID: 41701 | Hgene | Tgene | Gene symbol | VWCE | SH3D19 | Gene ID | 220001 | 152503 |
Gene name | von Willebrand factor C and EGF domains | SH3 domain containing 19 | |
Synonyms | URG11|VWC1 | EBP|EVE1|Eve-1|Kryn|SH3P19 | |
Cytomap | 11q12.2 | 4q31.3 | |
Type of gene | protein-coding | protein-coding | |
Description | von Willebrand factor C and EGF domain-containing proteinHBV X protein up-regulated gene 11 proteinHBxAg up-regulated gene 11 protein | SH3 domain-containing protein 19ADAM-binding protein Eve-1EEN-binding proteinSH3 domain protein D19 | |
Modification date | 20180519 | 20180522 | |
UniProtAcc | Q96DN2 | Q5HYK7 | |
Ensembl transtripts involved in fusion gene | ENST00000335613, ENST00000535710, | ENST00000409598, ENST00000424281, ENST00000304527, ENST00000455740, ENST00000409252, ENST00000514152, ENST00000427414, ENST00000604030, | |
Fusion gene scores | * DoF score | 1 X 1 X 1=1 | 6 X 8 X 8=384 |
# samples | 1 | 12 | |
** MAII score | log2(1/1*10)=3.32192809488736 | log2(12/384*10)=-1.67807190511264 possibly effective Gene in Pan-Cancer Fusion Genes (peGinPCFGs). DoF>8 and MAII<0 | |
Context | PubMed: VWCE [Title/Abstract] AND SH3D19 [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) |
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Partner | Gene | GO ID | GO term | PubMed ID |
![]() (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 | SARC | TCGA-X6-A7WC-01A | VWCE | chr11 | 61048096 | - | SH3D19 | chr4 | 152098107 | - |
* 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 |
5CDS-5UTR | ENST00000335613 | ENST00000409598 | VWCE | chr11 | 61048096 | - | SH3D19 | chr4 | 152098107 | - |
5CDS-5UTR | ENST00000335613 | ENST00000424281 | VWCE | chr11 | 61048096 | - | SH3D19 | chr4 | 152098107 | - |
5CDS-5UTR | ENST00000335613 | ENST00000304527 | VWCE | chr11 | 61048096 | - | SH3D19 | chr4 | 152098107 | - |
5CDS-5UTR | ENST00000335613 | ENST00000455740 | VWCE | chr11 | 61048096 | - | SH3D19 | chr4 | 152098107 | - |
5CDS-5UTR | ENST00000335613 | ENST00000409252 | VWCE | chr11 | 61048096 | - | SH3D19 | chr4 | 152098107 | - |
5CDS-5UTR | ENST00000335613 | ENST00000514152 | VWCE | chr11 | 61048096 | - | SH3D19 | chr4 | 152098107 | - |
5CDS-intron | ENST00000335613 | ENST00000427414 | VWCE | chr11 | 61048096 | - | SH3D19 | chr4 | 152098107 | - |
5CDS-5UTR | ENST00000335613 | ENST00000604030 | VWCE | chr11 | 61048096 | - | SH3D19 | chr4 | 152098107 | - |
intron-5UTR | ENST00000535710 | ENST00000409598 | VWCE | chr11 | 61048096 | - | SH3D19 | chr4 | 152098107 | - |
intron-5UTR | ENST00000535710 | ENST00000424281 | VWCE | chr11 | 61048096 | - | SH3D19 | chr4 | 152098107 | - |
intron-5UTR | ENST00000535710 | ENST00000304527 | VWCE | chr11 | 61048096 | - | SH3D19 | chr4 | 152098107 | - |
intron-5UTR | ENST00000535710 | ENST00000455740 | VWCE | chr11 | 61048096 | - | SH3D19 | chr4 | 152098107 | - |
intron-5UTR | ENST00000535710 | ENST00000409252 | VWCE | chr11 | 61048096 | - | SH3D19 | chr4 | 152098107 | - |
intron-5UTR | ENST00000535710 | ENST00000514152 | VWCE | chr11 | 61048096 | - | SH3D19 | chr4 | 152098107 | - |
intron-intron | ENST00000535710 | ENST00000427414 | VWCE | chr11 | 61048096 | - | SH3D19 | chr4 | 152098107 | - |
intron-5UTR | ENST00000535710 | ENST00000604030 | VWCE | chr11 | 61048096 | - | SH3D19 | chr4 | 152098107 | - |
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FusionProtFeatures for VWCE_SH3D19 |
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Hgene | Tgene |
VWCE | SH3D19 |
May be a regulatory element in the beta-cateninsignaling pathway and a target for chemoprevention ofhapatocellular carcinoma. {ECO:0000269|PubMed:16496348}. | May play a role in regulating A disintegrin andmetalloproteases (ADAMs) in the signaling of EGFR-ligand shedding.May be involved in suppression of Ras-induced cellulartransformation and Ras-mediated activation of ELK1. Plays a rolein the regulation of cell morphology and cytoskeletalorganization. {ECO:0000269|PubMed:14551139,ECO:0000269|PubMed:15280379, ECO:0000269|PubMed:21834987}. |
![]() * 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 |
- 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 |
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FusionGeneSequence for VWCE_SH3D19 |
![]() (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 VWCE_SH3D19 |
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Hgene | Hgene's interactors | Tgene | Tgene's interactors |
VWCE | MUS81, HSPA1A, ZNF444, ZNF747, ZNF669, ZNF764, KPTN, ZNF664, ITFG2, ZNF627, ZNF620, FIZ1, ZNF77, TTLL5, ZSCAN21, ZNF74, ZNF302, CILP2, ZNF460, ZBTB9, ZNF8, EGFL7, ZNF696, ZNF358, ZBTB33, ZNF316, COL26A1, HLA-DPA1, ZNF146, CBX4, ZNF324, CERK, LTBP1, E4F1, ZKSCAN1, POLRMT, SQSTM1, PIGA, ZNF430, HLA-DPB1, POMT2, TIMP3, EMILIN3, CTU1, NUFIP2, RPUSD4, POMT1, ZNHIT6, HSPA5, TMEM160, TSR3, LTBP4, FBN2, FBXO21, RECQL4, IDE, LAMB2 | SH3D19 | SH3YL1, GRB2, CDC42, ELAVL1, SH3KBP1, NPHP1, CDH1 |
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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 VWCE_SH3D19 |
![]() (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 VWCE_SH3D19 |
![]() (DisGeNet 4.0) |
Partner | Gene | Disease ID | Disease name | # pubmeds | Source |