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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:CAMK2D-EPB42 (FusionGDB2 ID:HG817TG2038) |
Fusion Gene Summary for CAMK2D-EPB42 |
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Fusion gene information | Fusion gene name: CAMK2D-EPB42 | Fusion gene ID: hg817tg2038 | Hgene | Tgene | Gene symbol | CAMK2D | EPB42 | Gene ID | 817 | 2038 |
Gene name | calcium/calmodulin dependent protein kinase II delta | erythrocyte membrane protein band 4.2 | |
Synonyms | CAMKD | PA|SPH5 | |
Cytomap | ('CAMK2D')('EPB42') 4q26 | 15q15.2 | |
Type of gene | protein-coding | protein-coding | |
Description | calcium/calmodulin-dependent protein kinase type II subunit deltaCaM kinase II delta subunitCaM-kinase II delta chainCaMK-II delta subunitcalcium/calmodulin-dependent protein kinase (CaM kinase) II deltacalcium/calmodulin-dependent protein kinase typ | erythrocyte membrane protein band 4.2P4.2erythrocyte protein 4.2erythrocyte surface protein band 4.2 | |
Modification date | 20200327 | 20200313 | |
UniProtAcc | . | . | |
Ensembl transtripts involved in fusion gene | ENST00000296402, ENST00000342666, ENST00000379773, ENST00000394522, ENST00000394524, ENST00000394526, ENST00000418639, ENST00000429180, ENST00000454265, ENST00000505990, ENST00000508738, ENST00000509907, ENST00000511664, ENST00000514328, ENST00000515496, | ||
Fusion gene scores | * DoF score | 10 X 12 X 8=960 | 4 X 3 X 4=48 |
# samples | 13 | 4 | |
** MAII score | log2(13/960*10)=-2.88452278258006 possibly effective Gene in Pan-Cancer Fusion Genes (peGinPCFGs). DoF>8 and MAII<0 | log2(4/48*10)=-0.263034405833794 possibly effective Gene in Pan-Cancer Fusion Genes (peGinPCFGs). DoF>8 and MAII<0 | |
Context | PubMed: CAMK2D [Title/Abstract] AND EPB42 [Title/Abstract] AND fusion [Title/Abstract] | ||
Most frequent breakpoint | CAMK2D(114563880)-EPB42(43504574), # 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 | CAMK2D | GO:0003254 | regulation of membrane depolarization | 22514276 |
Hgene | CAMK2D | GO:0006468 | protein phosphorylation | 17179159|23283722 |
Hgene | CAMK2D | GO:0018105 | peptidyl-serine phosphorylation | 22514276|23283722 |
Hgene | CAMK2D | GO:0018107 | peptidyl-threonine phosphorylation | 22514276|23283722 |
Hgene | CAMK2D | GO:0046777 | protein autophosphorylation | 22514276 |
Hgene | CAMK2D | GO:1901897 | regulation of relaxation of cardiac muscle | 23283722 |
Hgene | CAMK2D | GO:1902306 | negative regulation of sodium ion transmembrane transport | 22514276 |
Hgene | CAMK2D | GO:2000650 | negative regulation of sodium ion transmembrane transporter activity | 22514276 |
![]() * 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 CAMK2D-EPB42 |
![]() * 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 CAMK2D-EPB42 |
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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 CAMK2D-EPB42 |
![]() Go to FGviewer search page for the most frequent breakpoint (https://ccsmweb.uth.edu/FGviewer/:114563880/:43504574) - 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 CAMK2D-EPB42 |
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Fusion Gene PPI Analysis for CAMK2D-EPB42 |
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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 CAMK2D-EPB42 |
![]() (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 CAMK2D-EPB42 |
![]() (DisGeNet 4.0) |
Partner | Gene | Disease ID | Disease name | # pubmeds | Source |
Hgene | CAMK2D | C0004238 | Atrial Fibrillation | 2 | CTD_human |
Hgene | CAMK2D | C0235480 | Paroxysmal atrial fibrillation | 2 | CTD_human |
Hgene | CAMK2D | C2585653 | Persistent atrial fibrillation | 2 | CTD_human |
Hgene | CAMK2D | C3468561 | familial atrial fibrillation | 2 | CTD_human |
Hgene | CAMK2D | C0023893 | Liver Cirrhosis, Experimental | 1 | CTD_human |
Hgene | CAMK2D | C0032460 | Polycystic Ovary Syndrome | 1 | CTD_human |
Hgene | CAMK2D | C0151744 | Myocardial Ischemia | 1 | CTD_human |
Hgene | CAMK2D | C1136382 | Sclerocystic Ovaries | 1 | CTD_human |
Tgene | C2675192 | Spherocytosis, Type 5 | 6 | CTD_human;GENOMICS_ENGLAND;UNIPROT | |
Tgene | C0221409 | Anemia, hereditary spherocytic hemolytic | 3 | GENOMICS_ENGLAND;ORPHANET | |
Tgene | C0013902 | Elliptocytosis, Hereditary | 2 | GENOMICS_ENGLAND | |
Tgene | C0427480 | Elliptocytosis found | 2 | GENOMICS_ENGLAND | |
Tgene | C0037889 | Hereditary spherocytosis | 1 | ORPHANET |