|
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:CAMK2B-EGFLAM (FusionGDB2 ID:12659) |
Fusion Gene Summary for CAMK2B-EGFLAM |
Fusion gene summary |
Fusion gene information | Fusion gene name: CAMK2B-EGFLAM | Fusion gene ID: 12659 | Hgene | Tgene | Gene symbol | CAMK2B | EGFLAM | Gene ID | 816 | 133584 |
Gene name | calcium/calmodulin dependent protein kinase II beta | EGF like, fibronectin type III and laminin G domains | |
Synonyms | CAM2|CAMK2|CAMKB|CaMKIIbeta|MRD54 | AGRINL|AGRNL|PIKA | |
Cytomap | 7p13 | 5p13.2-p13.1 | |
Type of gene | protein-coding | protein-coding | |
Description | calcium/calmodulin-dependent protein kinase type II subunit betaCaM kinase II beta subunitCaM-kinase II beta chaincaMK-II subunit betaproline rich calmodulin-dependent protein kinase | pikachurinEGF-like, fibronectin type-III and laminin G-like domain-containing proteinagrin-like protein | |
Modification date | 20200313 | 20200313 | |
UniProtAcc | Q13554 | Q63HQ2 | |
Ensembl transtripts involved in fusion gene | ENST00000258682, ENST00000346990, ENST00000347193, ENST00000350811, ENST00000353625, ENST00000358707, ENST00000395747, ENST00000395749, ENST00000440254, ENST00000457475, ENST00000489429, ENST00000502837, | ENST00000322350, ENST00000354891, ENST00000397202, ENST00000397210, ENST00000336740, ENST00000506135, ENST00000514476, | |
Fusion gene scores | * DoF score | 4 X 4 X 4=64 | 4 X 5 X 1=20 |
# samples | 4 | 5 | |
** MAII score | log2(4/64*10)=-0.678071905112638 possibly effective Gene in Pan-Cancer Fusion Genes (peGinPCFGs). DoF>8 and MAII<0 | log2(5/20*10)=1.32192809488736 effective Gene in Pan-Cancer Fusion Genes (eGinPCFGs). DoF>8 and MAII>0 | |
Context | PubMed: CAMK2B [Title/Abstract] AND EGFLAM [Title/Abstract] AND fusion [Title/Abstract] | ||
Most frequent breakpoint | CAMK2B(44372136)-EGFLAM(38464491), # 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) |
Gene ontology of each fusion partner gene with evidence of Inferred from Direct Assay (IDA) from Entrez |
Partner | Gene | GO ID | GO term | PubMed ID |
Hgene | CAMK2B | GO:0046777 | protein autophosphorylation | 18817731 |
Fusion gene breakpoints across CAMK2B (5'-gene) * Click on the image to open the UCSC genome browser with custom track showing this image in a new window. |
Fusion gene breakpoints across EGFLAM (3'-gene) * Click on the image to open the UCSC genome browser with custom track showing this image in a new window. |
Fusion gene information from two resources (ChiTars 5.0 and ChimerDB 4.0) * 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 |
ChiTaRS5.0 | N/A | CB047908 | CAMK2B | chr7 | 44372136 | - | EGFLAM | chr5 | 38464491 | - |
Top |
Fusion Gene ORF analysis for CAMK2B-EGFLAM |
Open reading frame (ORF) analsis of fusion genes based on Ensembl gene isoform structure. * 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 |
intron-3UTR | ENST00000258682 | ENST00000322350 | CAMK2B | chr7 | 44372136 | - | EGFLAM | chr5 | 38464491 | - |
intron-3UTR | ENST00000258682 | ENST00000354891 | CAMK2B | chr7 | 44372136 | - | EGFLAM | chr5 | 38464491 | - |
intron-3UTR | ENST00000258682 | ENST00000397202 | CAMK2B | chr7 | 44372136 | - | EGFLAM | chr5 | 38464491 | - |
intron-3UTR | ENST00000258682 | ENST00000397210 | CAMK2B | chr7 | 44372136 | - | EGFLAM | chr5 | 38464491 | - |
intron-3UTR | ENST00000346990 | ENST00000322350 | CAMK2B | chr7 | 44372136 | - | EGFLAM | chr5 | 38464491 | - |
intron-3UTR | ENST00000346990 | ENST00000354891 | CAMK2B | chr7 | 44372136 | - | EGFLAM | chr5 | 38464491 | - |
intron-3UTR | ENST00000346990 | ENST00000397202 | CAMK2B | chr7 | 44372136 | - | EGFLAM | chr5 | 38464491 | - |
intron-3UTR | ENST00000346990 | ENST00000397210 | CAMK2B | chr7 | 44372136 | - | EGFLAM | chr5 | 38464491 | - |
intron-3UTR | ENST00000347193 | ENST00000322350 | CAMK2B | chr7 | 44372136 | - | EGFLAM | chr5 | 38464491 | - |
intron-3UTR | ENST00000347193 | ENST00000354891 | CAMK2B | chr7 | 44372136 | - | EGFLAM | chr5 | 38464491 | - |
intron-3UTR | ENST00000347193 | ENST00000397202 | CAMK2B | chr7 | 44372136 | - | EGFLAM | chr5 | 38464491 | - |
intron-3UTR | ENST00000347193 | ENST00000397210 | CAMK2B | chr7 | 44372136 | - | EGFLAM | chr5 | 38464491 | - |
intron-3UTR | ENST00000350811 | ENST00000322350 | CAMK2B | chr7 | 44372136 | - | EGFLAM | chr5 | 38464491 | - |
intron-3UTR | ENST00000350811 | ENST00000354891 | CAMK2B | chr7 | 44372136 | - | EGFLAM | chr5 | 38464491 | - |
intron-3UTR | ENST00000350811 | ENST00000397202 | CAMK2B | chr7 | 44372136 | - | EGFLAM | chr5 | 38464491 | - |
intron-3UTR | ENST00000350811 | ENST00000397210 | CAMK2B | chr7 | 44372136 | - | EGFLAM | chr5 | 38464491 | - |
intron-3UTR | ENST00000353625 | ENST00000322350 | CAMK2B | chr7 | 44372136 | - | EGFLAM | chr5 | 38464491 | - |
intron-3UTR | ENST00000353625 | ENST00000354891 | CAMK2B | chr7 | 44372136 | - | EGFLAM | chr5 | 38464491 | - |
intron-3UTR | ENST00000353625 | ENST00000397202 | CAMK2B | chr7 | 44372136 | - | EGFLAM | chr5 | 38464491 | - |
intron-3UTR | ENST00000353625 | ENST00000397210 | CAMK2B | chr7 | 44372136 | - | EGFLAM | chr5 | 38464491 | - |
intron-3UTR | ENST00000358707 | ENST00000322350 | CAMK2B | chr7 | 44372136 | - | EGFLAM | chr5 | 38464491 | - |
intron-3UTR | ENST00000358707 | ENST00000354891 | CAMK2B | chr7 | 44372136 | - | EGFLAM | chr5 | 38464491 | - |
intron-3UTR | ENST00000358707 | ENST00000397202 | CAMK2B | chr7 | 44372136 | - | EGFLAM | chr5 | 38464491 | - |
intron-3UTR | ENST00000358707 | ENST00000397210 | CAMK2B | chr7 | 44372136 | - | EGFLAM | chr5 | 38464491 | - |
intron-3UTR | ENST00000395747 | ENST00000322350 | CAMK2B | chr7 | 44372136 | - | EGFLAM | chr5 | 38464491 | - |
intron-3UTR | ENST00000395747 | ENST00000354891 | CAMK2B | chr7 | 44372136 | - | EGFLAM | chr5 | 38464491 | - |
intron-3UTR | ENST00000395747 | ENST00000397202 | CAMK2B | chr7 | 44372136 | - | EGFLAM | chr5 | 38464491 | - |
intron-3UTR | ENST00000395747 | ENST00000397210 | CAMK2B | chr7 | 44372136 | - | EGFLAM | chr5 | 38464491 | - |
intron-3UTR | ENST00000395749 | ENST00000322350 | CAMK2B | chr7 | 44372136 | - | EGFLAM | chr5 | 38464491 | - |
intron-3UTR | ENST00000395749 | ENST00000354891 | CAMK2B | chr7 | 44372136 | - | EGFLAM | chr5 | 38464491 | - |
intron-3UTR | ENST00000395749 | ENST00000397202 | CAMK2B | chr7 | 44372136 | - | EGFLAM | chr5 | 38464491 | - |
intron-3UTR | ENST00000395749 | ENST00000397210 | CAMK2B | chr7 | 44372136 | - | EGFLAM | chr5 | 38464491 | - |
intron-3UTR | ENST00000440254 | ENST00000322350 | CAMK2B | chr7 | 44372136 | - | EGFLAM | chr5 | 38464491 | - |
intron-3UTR | ENST00000440254 | ENST00000354891 | CAMK2B | chr7 | 44372136 | - | EGFLAM | chr5 | 38464491 | - |
intron-3UTR | ENST00000440254 | ENST00000397202 | CAMK2B | chr7 | 44372136 | - | EGFLAM | chr5 | 38464491 | - |
intron-3UTR | ENST00000440254 | ENST00000397210 | CAMK2B | chr7 | 44372136 | - | EGFLAM | chr5 | 38464491 | - |
intron-3UTR | ENST00000457475 | ENST00000322350 | CAMK2B | chr7 | 44372136 | - | EGFLAM | chr5 | 38464491 | - |
intron-3UTR | ENST00000457475 | ENST00000354891 | CAMK2B | chr7 | 44372136 | - | EGFLAM | chr5 | 38464491 | - |
intron-3UTR | ENST00000457475 | ENST00000397202 | CAMK2B | chr7 | 44372136 | - | EGFLAM | chr5 | 38464491 | - |
intron-3UTR | ENST00000457475 | ENST00000397210 | CAMK2B | chr7 | 44372136 | - | EGFLAM | chr5 | 38464491 | - |
intron-3UTR | ENST00000489429 | ENST00000322350 | CAMK2B | chr7 | 44372136 | - | EGFLAM | chr5 | 38464491 | - |
intron-3UTR | ENST00000489429 | ENST00000354891 | CAMK2B | chr7 | 44372136 | - | EGFLAM | chr5 | 38464491 | - |
intron-3UTR | ENST00000489429 | ENST00000397202 | CAMK2B | chr7 | 44372136 | - | EGFLAM | chr5 | 38464491 | - |
intron-3UTR | ENST00000489429 | ENST00000397210 | CAMK2B | chr7 | 44372136 | - | EGFLAM | chr5 | 38464491 | - |
intron-3UTR | ENST00000502837 | ENST00000322350 | CAMK2B | chr7 | 44372136 | - | EGFLAM | chr5 | 38464491 | - |
intron-3UTR | ENST00000502837 | ENST00000354891 | CAMK2B | chr7 | 44372136 | - | EGFLAM | chr5 | 38464491 | - |
intron-3UTR | ENST00000502837 | ENST00000397202 | CAMK2B | chr7 | 44372136 | - | EGFLAM | chr5 | 38464491 | - |
intron-3UTR | ENST00000502837 | ENST00000397210 | CAMK2B | chr7 | 44372136 | - | EGFLAM | chr5 | 38464491 | - |
intron-intron | ENST00000258682 | ENST00000336740 | CAMK2B | chr7 | 44372136 | - | EGFLAM | chr5 | 38464491 | - |
intron-intron | ENST00000258682 | ENST00000506135 | CAMK2B | chr7 | 44372136 | - | EGFLAM | chr5 | 38464491 | - |
intron-intron | ENST00000258682 | ENST00000514476 | CAMK2B | chr7 | 44372136 | - | EGFLAM | chr5 | 38464491 | - |
intron-intron | ENST00000346990 | ENST00000336740 | CAMK2B | chr7 | 44372136 | - | EGFLAM | chr5 | 38464491 | - |
intron-intron | ENST00000346990 | ENST00000506135 | CAMK2B | chr7 | 44372136 | - | EGFLAM | chr5 | 38464491 | - |
intron-intron | ENST00000346990 | ENST00000514476 | CAMK2B | chr7 | 44372136 | - | EGFLAM | chr5 | 38464491 | - |
intron-intron | ENST00000347193 | ENST00000336740 | CAMK2B | chr7 | 44372136 | - | EGFLAM | chr5 | 38464491 | - |
intron-intron | ENST00000347193 | ENST00000506135 | CAMK2B | chr7 | 44372136 | - | EGFLAM | chr5 | 38464491 | - |
intron-intron | ENST00000347193 | ENST00000514476 | CAMK2B | chr7 | 44372136 | - | EGFLAM | chr5 | 38464491 | - |
intron-intron | ENST00000350811 | ENST00000336740 | CAMK2B | chr7 | 44372136 | - | EGFLAM | chr5 | 38464491 | - |
intron-intron | ENST00000350811 | ENST00000506135 | CAMK2B | chr7 | 44372136 | - | EGFLAM | chr5 | 38464491 | - |
intron-intron | ENST00000350811 | ENST00000514476 | CAMK2B | chr7 | 44372136 | - | EGFLAM | chr5 | 38464491 | - |
intron-intron | ENST00000353625 | ENST00000336740 | CAMK2B | chr7 | 44372136 | - | EGFLAM | chr5 | 38464491 | - |
intron-intron | ENST00000353625 | ENST00000506135 | CAMK2B | chr7 | 44372136 | - | EGFLAM | chr5 | 38464491 | - |
intron-intron | ENST00000353625 | ENST00000514476 | CAMK2B | chr7 | 44372136 | - | EGFLAM | chr5 | 38464491 | - |
intron-intron | ENST00000358707 | ENST00000336740 | CAMK2B | chr7 | 44372136 | - | EGFLAM | chr5 | 38464491 | - |
intron-intron | ENST00000358707 | ENST00000506135 | CAMK2B | chr7 | 44372136 | - | EGFLAM | chr5 | 38464491 | - |
intron-intron | ENST00000358707 | ENST00000514476 | CAMK2B | chr7 | 44372136 | - | EGFLAM | chr5 | 38464491 | - |
intron-intron | ENST00000395747 | ENST00000336740 | CAMK2B | chr7 | 44372136 | - | EGFLAM | chr5 | 38464491 | - |
intron-intron | ENST00000395747 | ENST00000506135 | CAMK2B | chr7 | 44372136 | - | EGFLAM | chr5 | 38464491 | - |
intron-intron | ENST00000395747 | ENST00000514476 | CAMK2B | chr7 | 44372136 | - | EGFLAM | chr5 | 38464491 | - |
intron-intron | ENST00000395749 | ENST00000336740 | CAMK2B | chr7 | 44372136 | - | EGFLAM | chr5 | 38464491 | - |
intron-intron | ENST00000395749 | ENST00000506135 | CAMK2B | chr7 | 44372136 | - | EGFLAM | chr5 | 38464491 | - |
intron-intron | ENST00000395749 | ENST00000514476 | CAMK2B | chr7 | 44372136 | - | EGFLAM | chr5 | 38464491 | - |
intron-intron | ENST00000440254 | ENST00000336740 | CAMK2B | chr7 | 44372136 | - | EGFLAM | chr5 | 38464491 | - |
intron-intron | ENST00000440254 | ENST00000506135 | CAMK2B | chr7 | 44372136 | - | EGFLAM | chr5 | 38464491 | - |
intron-intron | ENST00000440254 | ENST00000514476 | CAMK2B | chr7 | 44372136 | - | EGFLAM | chr5 | 38464491 | - |
intron-intron | ENST00000457475 | ENST00000336740 | CAMK2B | chr7 | 44372136 | - | EGFLAM | chr5 | 38464491 | - |
intron-intron | ENST00000457475 | ENST00000506135 | CAMK2B | chr7 | 44372136 | - | EGFLAM | chr5 | 38464491 | - |
intron-intron | ENST00000457475 | ENST00000514476 | CAMK2B | chr7 | 44372136 | - | EGFLAM | chr5 | 38464491 | - |
intron-intron | ENST00000489429 | ENST00000336740 | CAMK2B | chr7 | 44372136 | - | EGFLAM | chr5 | 38464491 | - |
intron-intron | ENST00000489429 | ENST00000506135 | CAMK2B | chr7 | 44372136 | - | EGFLAM | chr5 | 38464491 | - |
intron-intron | ENST00000489429 | ENST00000514476 | CAMK2B | chr7 | 44372136 | - | EGFLAM | chr5 | 38464491 | - |
intron-intron | ENST00000502837 | ENST00000336740 | CAMK2B | chr7 | 44372136 | - | EGFLAM | chr5 | 38464491 | - |
intron-intron | ENST00000502837 | ENST00000506135 | CAMK2B | chr7 | 44372136 | - | EGFLAM | chr5 | 38464491 | - |
intron-intron | ENST00000502837 | ENST00000514476 | CAMK2B | chr7 | 44372136 | - | EGFLAM | chr5 | 38464491 | - |
ORFfinder result based on the fusion transcript sequence of in-frame fusion genes. |
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) |
DeepORF prediction of the coding potential based on the fusion transcript sequence of in-frame fusion genes. DeepORF is a coding potential classifier based on convolutional neural network by comparing the real Ribo-seq data. If the no-coding score < 0.5 and coding score > 0.5, then the in-frame fusion transcript is predicted as being likely translated. |
Henst | Tenst | Hgene | Hchr | Hbp | Hstrand | Tgene | Tchr | Tbp | Tstrand | No-coding score | Coding score |
Top |
Fusion Genomic Features for CAMK2B-EGFLAM |
FusionAI prediction of the potential fusion gene breakpoint based on the pre-mature RNA sequence context (+/- 5kb of individual partner genes, total 20kb length sequence). FusionAI is a fusion gene breakpoint classifier based on convolutional neural network by comparing the fusion positive and negative sequence context of ~ 20K fusion gene data. From here, we can have the relative potentency of the 20K genomic sequence how individual sequnce will be likely used as the gene fusion breakpoints. |
Hgene | Hchr | Hbp | Hstrand | Tgene | Tchr | Tbp | Tstrand | 1-p | p (fusion gene breakpoint) |
Distribution of 44 human genomic features loci across 20kb length fusion breakpoint regions. We integrated a total of 44 different types of human genomic feature loci information across five big categories including virus integration sites, repeats, structural variants, chromatin states, and gene expression regulation. More details are in help page. |
Distribution of 44 human genomic features loci across 20kb length fusion breakpoint regions that are ovelapped with the top 1% feature importance score regions. More details are in help page. |
Top |
Fusion Protein Features for CAMK2B-EGFLAM |
Four levels of functional features of fusion genes Go to FGviewer search page for the most frequent breakpoint (https://ccsmweb.uth.edu/FGviewer/:44372136/:38464491) - 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. |
Main function of each fusion partner protein. (from UniProt) |
Hgene | Tgene |
CAMK2B | EGFLAM |
FUNCTION: Calcium/calmodulin-dependent protein kinase that functions autonomously after Ca(2+)/calmodulin-binding and autophosphorylation, and is involved in dendritic spine and synapse formation, neuronal plasticity and regulation of sarcoplasmic reticulum Ca(2+) transport in skeletal muscle. In neurons, plays an essential structural role in the reorganization of the actin cytoskeleton during plasticity by binding and bundling actin filaments in a kinase-independent manner. This structural function is required for correct targeting of CaMK2A, which acts downstream of NMDAR to promote dendritic spine and synapse formation and maintain synaptic plasticity which enables long-term potentiation (LTP) and hippocampus-dependent learning. In developing hippocampal neurons, promotes arborization of the dendritic tree and in mature neurons, promotes dendritic remodeling. Also regulates the migration of developing neurons (PubMed:29100089). Participates in the modulation of skeletal muscle function in response to exercise. In slow-twitch muscles, is involved in regulation of sarcoplasmic reticulum (SR) Ca(2+) transport and in fast-twitch muscle participates in the control of Ca(2+) release from the SR through phosphorylation of triadin, a ryanodine receptor-coupling factor, and phospholamban (PLN/PLB), an endogenous inhibitor of SERCA2A/ATP2A2. {ECO:0000269|PubMed:16690701, ECO:0000269|PubMed:29100089}. | FUNCTION: Involved in both the retinal photoreceptor ribbon synapse formation and physiological functions of visual perception. Necessary for proper bipolar dendritic tip apposition to the photoreceptor ribbon synapse. Promotes matrix assembly and cell adhesiveness (By similarity). {ECO:0000250}. |
Retention analysis result of each fusion partner protein across 39 protein features of UniProt such as six molecule processing features, 13 region features, four site features, six amino acid modification features, two natural variation features, five experimental info features, and 3 secondary structure features. Here, because of limited space for viewing, we only show the protein feature retention information belong to the 13 regional features. All retention annotation result can be downloaded at * 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 |
Top |
Fusion Gene Sequence for CAMK2B-EGFLAM |
For in-frame fusion transcripts, we provide the fusion transcript sequences and fusion amino acid sequences. To have fusion amino acid sequence, we ran ORFfinder and chose the longest ORF among the all predicted ones. |
Top |
Fusion Gene PPI Analysis for CAMK2B-EGFLAM |
Go to ChiPPI (Chimeric Protein-Protein interactions) to see the chimeric PPI interaction in |
Protein-protein interactors with each fusion partner protein in wild-type (BIOGRID-3.4.160) |
Hgene | Hgene's interactors | Tgene | Tgene's interactors |
- Retained PPIs in in-frame fusion. |
Partner | Gene | Hbp | Tbp | ENST | Strand | BPexon | TotalExon | Protein feature loci | *BPloci | TotalLen | Still interaction with |
- Lost PPIs in in-frame fusion. |
Partner | Gene | Hbp | Tbp | ENST | Strand | BPexon | TotalExon | Protein feature loci | *BPloci | TotalLen | Interaction lost with |
- Retained PPIs, but lost function due to frame-shift fusion. |
Partner | Gene | Hbp | Tbp | ENST | Strand | BPexon | TotalExon | Protein feature loci | *BPloci | TotalLen | Interaction lost with |
Top |
Related Drugs for CAMK2B-EGFLAM |
Drugs targeting genes involved in this fusion gene. (DrugBank Version 5.1.8 2021-05-08) |
Partner | Gene | UniProtAcc | DrugBank ID | Drug name | Drug activity | Drug type | Drug status |
Top |
Related Diseases for CAMK2B-EGFLAM |
Diseases associated with fusion partners. (DisGeNet 4.0) |
Partner | Gene | Disease ID | Disease name | # pubmeds | Source |