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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:CAMK1D-OPTN (FusionGDB2 ID:HG57118TG10133) |
Fusion Gene Summary for CAMK1D-OPTN |
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Fusion gene information | Fusion gene name: CAMK1D-OPTN | Fusion gene ID: hg57118tg10133 | Hgene | Tgene | Gene symbol | CAMK1D | OPTN | Gene ID | 57118 | 10133 |
Gene name | calcium/calmodulin dependent protein kinase ID | optineurin | |
Synonyms | CKLiK|CaM-K1|CaMKID | ALS12|FIP2|GLC1E|HIP7|HYPL|NRP|TFIIIA-INTP | |
Cytomap | ('CAMK1D')('OPTN') 10p13 | 10p13 | |
Type of gene | protein-coding | protein-coding | |
Description | calcium/calmodulin-dependent protein kinase type 1DCAMK1D/ANAPC5 fusionCaM kinase IDCamKI-like protein kinasecaM kinase I deltacaM-KI deltacaMKI delta | optineurinE3-14.7K-interacting proteinFIP-2HIP-7Huntingtin interacting protein Lhuntingtin yeast partner Lhuntingtin-interacting protein 7huntingtin-interacting protein Lnemo-related proteinoptic neuropathy-inducing proteintranscription factor I | |
Modification date | 20200313 | 20200327 | |
UniProtAcc | . | . | |
Ensembl transtripts involved in fusion gene | ENST00000378847, ENST00000378845, ENST00000487696, | ||
Fusion gene scores | * DoF score | 24 X 22 X 7=3696 | 8 X 7 X 6=336 |
# samples | 28 | 8 | |
** MAII score | log2(28/3696*10)=-3.72246602447109 possibly effective Gene in Pan-Cancer Fusion Genes (peGinPCFGs). DoF>8 and MAII<0 | log2(8/336*10)=-2.0703893278914 possibly effective Gene in Pan-Cancer Fusion Genes (peGinPCFGs). DoF>8 and MAII<0 | |
Context | PubMed: CAMK1D [Title/Abstract] AND OPTN [Title/Abstract] AND fusion [Title/Abstract] | ||
Most frequent breakpoint | CAMK1D(12871728)-OPTN(13172422), # 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 |
Hgene | CAMK1D | GO:0032793 | positive regulation of CREB transcription factor activity | 16324104 |
Tgene | OPTN | GO:0010508 | positive regulation of autophagy | 21617041 |
Tgene | OPTN | GO:0090161 | Golgi ribbon formation | 15837803 |
![]() * 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 CAMK1D-OPTN |
![]() * 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 CAMK1D-OPTN |
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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 CAMK1D-OPTN |
![]() Go to FGviewer search page for the most frequent breakpoint (https://ccsmweb.uth.edu/FGviewer/:12871728/:13172422) - 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 |
. | . |
FUNCTION: Transcriptional activator which is required for calcium-dependent dendritic growth and branching in cortical neurons. Recruits CREB-binding protein (CREBBP) to nuclear bodies. Component of the CREST-BRG1 complex, a multiprotein complex that regulates promoter activation by orchestrating a calcium-dependent release of a repressor complex and a recruitment of an activator complex. In resting neurons, transcription of the c-FOS promoter is inhibited by BRG1-dependent recruitment of a phospho-RB1-HDAC1 repressor complex. Upon calcium influx, RB1 is dephosphorylated by calcineurin, which leads to release of the repressor complex. At the same time, there is increased recruitment of CREBBP to the promoter by a CREST-dependent mechanism, which leads to transcriptional activation. The CREST-BRG1 complex also binds to the NR2B promoter, and activity-dependent induction of NR2B expression involves a release of HDAC1 and recruitment of CREBBP (By similarity). {ECO:0000250}. | FUNCTION: Transcriptional activator which is required for calcium-dependent dendritic growth and branching in cortical neurons. Recruits CREB-binding protein (CREBBP) to nuclear bodies. Component of the CREST-BRG1 complex, a multiprotein complex that regulates promoter activation by orchestrating a calcium-dependent release of a repressor complex and a recruitment of an activator complex. In resting neurons, transcription of the c-FOS promoter is inhibited by BRG1-dependent recruitment of a phospho-RB1-HDAC1 repressor complex. Upon calcium influx, RB1 is dephosphorylated by calcineurin, which leads to release of the repressor complex. At the same time, there is increased recruitment of CREBBP to the promoter by a CREST-dependent mechanism, which leads to transcriptional activation. The CREST-BRG1 complex also binds to the NR2B promoter, and activity-dependent induction of NR2B expression involves a release of HDAC1 and recruitment of CREBBP (By similarity). {ECO:0000250}. |
![]() * 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 CAMK1D-OPTN |
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Fusion Gene PPI Analysis for CAMK1D-OPTN |
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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 CAMK1D-OPTN |
![]() (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 CAMK1D-OPTN |
![]() (DisGeNet 4.0) |
Partner | Gene | Disease ID | Disease name | # pubmeds | Source |
Tgene | C0339573 | Glaucoma, Primary Open Angle | 14 | CTD_human;GENOMICS_ENGLAND;UNIPROT | |
Tgene | C0002736 | Amyotrophic Lateral Sclerosis | 3 | CTD_human;ORPHANET | |
Tgene | C0017612 | Glaucoma, Open-Angle | 2 | CTD_human | |
Tgene | C0029401 | Osteitis Deformans | 2 | CTD_human | |
Tgene | C0271148 | Secondary Open Angle Glaucoma | 2 | CTD_human | |
Tgene | C0393554 | Amyotrophic Lateral Sclerosis With Dementia | 2 | CTD_human | |
Tgene | C0543859 | Amyotrophic Lateral Sclerosis, Guam Form | 2 | CTD_human | |
Tgene | C3150692 | AMYOTROPHIC LATERAL SCLEROSIS 12 | 2 | CTD_human;UNIPROT | |
Tgene | C1847730 | GLAUCOMA, NORMAL TENSION, SUSCEPTIBILITY TO (finding) | 1 | CTD_human;GENOMICS_ENGLAND |