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![]() | Fusion Gene Summary |
![]() | Fusion Gene ORF analysis |
![]() | Fusion Genomic Features |
![]() | Fusion Protein Features |
![]() | Fusion Gene Sequence |
![]() | Fusion Gene PPI analysis |
![]() | Related Drugs |
![]() | Related Diseases |
Fusion gene:EFHC1-PRCC (FusionGDB2 ID:HG114327TG5546) |
Fusion Gene Summary for EFHC1-PRCC |
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Fusion gene information | Fusion gene name: EFHC1-PRCC | Fusion gene ID: hg114327tg5546 | Hgene | Tgene | Gene symbol | EFHC1 | PRCC | Gene ID | 114327 | 5546 |
Gene name | EF-hand domain containing 1 | proline rich mitotic checkpoint control factor | |
Synonyms | EJM1|POC9|RIB72|dJ304B14.2 | RCCP1|TPRC | |
Cytomap | ('EFHC1')('PRCC') 6p12.2 | 1q23.1 | |
Type of gene | protein-coding | protein-coding | |
Description | EF-hand domain-containing protein 1EF-hand domain (C-terminal) containing 1myoclonin-1 | proline-rich protein PRCCPRCC, proline rich mitotic checkpoint control factorpapillary renal cell carcinoma (translocation-associated)papillary renal cell carcinoma translocation-associated gene protein | |
Modification date | 20200313 | 20200313 | |
UniProtAcc | Q5JVL4 | Q92733 | |
Ensembl transtripts involved in fusion gene | ENST00000371068, ENST00000433625, ENST00000538167, ENST00000491749, | ||
Fusion gene scores | * DoF score | 6 X 6 X 4=144 | 7 X 10 X 4=280 |
# samples | 6 | 12 | |
** MAII score | log2(6/144*10)=-1.26303440583379 possibly effective Gene in Pan-Cancer Fusion Genes (peGinPCFGs). DoF>8 and MAII<0 | log2(12/280*10)=-1.22239242133645 possibly effective Gene in Pan-Cancer Fusion Genes (peGinPCFGs). DoF>8 and MAII<0 | |
Context | PubMed: EFHC1 [Title/Abstract] AND PRCC [Title/Abstract] AND fusion [Title/Abstract] | ||
Most frequent breakpoint | EFHC1(52344445)-PRCC(156759656), # samples:1 | ||
Anticipated loss of major functional domain due to fusion event. |
* 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 | PRCC | GO:0007093 | mitotic cell cycle checkpoint | 11717438 |
![]() * 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. |
Source | Disease | Sample | Hgene | Hchr | Hbp | Hstrand | Tgene | Tchr | Tbp | Tstrand |
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Fusion Gene ORF analysis for EFHC1-PRCC |
![]() * 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 |
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Henst | Tenst | Hgene | Hchr | Hbp | Hstrand | Tgene | Tchr | Tbp | Tstrand | Seq length (transcript) | BP loci (transcript) | Predicted start (transcript) | Predicted stop (transcript) | Seq length (amino acids) |
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Henst | Tenst | Hgene | Hchr | Hbp | Hstrand | Tgene | Tchr | Tbp | Tstrand | No-coding score | Coding score |
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Fusion Genomic Features for EFHC1-PRCC |
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Hgene | Hchr | Hbp | Hstrand | Tgene | Tchr | Tbp | Tstrand | 1-p | p (fusion gene breakpoint) |
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Fusion Protein Features for EFHC1-PRCC |
![]() Go to FGviewer search page for the most frequent breakpoint (https://ccsmweb.uth.edu/FGviewer/:52344445/:156759656) - FGviewer provides the online visualization of the retention search of the protein functional features across DNA, RNA, protein, and pathological levels. - How to search 1. Put your fusion gene symbol. 2. Press the tab key until there will be shown the breakpoint information filled. 4. Go down and press 'Search' tab twice. 4. Go down to have the hyperlink of the search result. 5. Click the hyperlink. 6. See the FGviewer result for your fusion gene. |
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Hgene | Tgene |
EFHC1 | PRCC |
FUNCTION: Microtubule-associated protein which regulates cell division and neuronal migration during cortical development. Necessary for mitotic spindle organization (PubMed:19734894, PubMed:28370826). Necessary for radial and tangential cell migration during brain development, possibly acting as a regulator of cell morphology and process formation during migration (PubMed:22926142). May enhance calcium influx through CACNA1E and stimulate programmed cell death (PubMed:15258581). {ECO:0000269|PubMed:15258581, ECO:0000269|PubMed:19734894, ECO:0000269|PubMed:22926142, ECO:0000269|PubMed:28370826}. | FUNCTION: May regulate cell cycle progression through interaction with MAD2L2. {ECO:0000269|PubMed:11717438}. |
![]() * 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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Fusion Gene Sequence for EFHC1-PRCC |
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Fusion Gene PPI Analysis for EFHC1-PRCC |
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Hgene | Hgene's interactors | Tgene | Tgene's interactors |
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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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Related Drugs for EFHC1-PRCC |
![]() (DrugBank Version 5.1.8 2021-05-08) |
Partner | Gene | UniProtAcc | DrugBank ID | Drug name | Drug activity | Drug type | Drug status |
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Related Diseases for EFHC1-PRCC |
![]() (DisGeNet 4.0) |
Partner | Gene | Disease ID | Disease name | # pubmeds | Source |
Hgene | EFHC1 | C0270853 | Juvenile Myoclonic Epilepsy | 10 | CLINGEN;CTD_human;GENOMICS_ENGLAND;ORPHANET;UNIPROT |
Hgene | EFHC1 | C2750892 | EPILEPSY, JUVENILE ABSENCE, SUSCEPTIBILITY TO, 1 | 3 | GENOMICS_ENGLAND;ORPHANET |
Tgene | C4518356 | MiT family translocation renal cell carcinoma | 3 | ORPHANET |