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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:CAP2-CCDC28B (FusionGDB2 ID:HG10486TG79140) |
Fusion Gene Summary for CAP2-CCDC28B |
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Fusion gene information | Fusion gene name: CAP2-CCDC28B | Fusion gene ID: hg10486tg79140 | Hgene | Tgene | Gene symbol | CAP2 | CCDC28B | Gene ID | 10486 | 79140 |
Gene name | cyclase associated actin cytoskeleton regulatory protein 2 | coiled-coil domain containing 28B | |
Synonyms | - | - | |
Cytomap | ('CAP2')('CCDC28B') 6p22.3 | 1p35.2 | |
Type of gene | protein-coding | protein-coding | |
Description | adenylyl cyclase-associated protein 22810452G09RikCAP 2CAP, adenylate cyclase-associated protein, 2 | coiled-coil domain-containing protein 28B | |
Modification date | 20200313 | 20200313 | |
UniProtAcc | P40123 | Q9BUN5 | |
Ensembl transtripts involved in fusion gene | ENST00000229922, ENST00000378990, ENST00000465994, ENST00000489374, ENST00000493172, | ||
Fusion gene scores | * DoF score | 4 X 4 X 2=32 | 5 X 4 X 3=60 |
# samples | 4 | 5 | |
** MAII score | log2(4/32*10)=0.321928094887362 effective Gene in Pan-Cancer Fusion Genes (eGinPCFGs). DoF>8 and MAII>0 | log2(5/60*10)=-0.263034405833794 possibly effective Gene in Pan-Cancer Fusion Genes (peGinPCFGs). DoF>8 and MAII<0 | |
Context | PubMed: CAP2 [Title/Abstract] AND CCDC28B [Title/Abstract] AND fusion [Title/Abstract] | ||
Most frequent breakpoint | CAP2(17557021)-CCDC28B(32670811), # samples:1 | ||
Anticipated loss of major functional domain due to fusion event. | CAP2-CCDC28B seems lost the major protein functional domain in Hgene partner, which is a CGC by not retaining the major functional domain in the partially deleted in-frame ORF. CAP2-CCDC28B seems lost the major protein functional domain in Hgene partner, which is a essential gene by not retaining the major functional domain in the partially deleted in-frame ORF. |
* 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 |
![]() * Click on the image to open the UCSC genome browser with custom track showing this image in a new window. |
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![]() * Click on the image to open the UCSC genome browser with custom track showing this image in a new window. |
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![]() * 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 CAP2-CCDC28B |
![]() * 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 |
ENST00000378990 | ENST00000373602 | CAP2 | chr6 | 17557021 | - | CCDC28B | chr1 | 32670811 | + | 0.000618839 | 0.9993812 |
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Fusion Genomic Features for CAP2-CCDC28B |
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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 CAP2-CCDC28B |
![]() Go to FGviewer search page for the most frequent breakpoint (https://ccsmweb.uth.edu/FGviewer/chr6:17557021/chr1:32670811) - 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 |
CAP2 | CCDC28B |
FUNCTION: May have a regulatory bifunctional role. | FUNCTION: Involved in ciliogenesis. Regulates cilia length through its interaction with MAPKAP1/SIN1 but independently of mTORC2 complex. Modulates mTORC2 complex assembly and function, possibly enhances AKT1 phosphorylation. Does not seem to modulate assembly and function of mTORC1 complex. {ECO:0000269|PubMed:23015189, ECO:0000269|PubMed:23727834}. |
![]() * 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 |
Tgene | CCDC28B | chr6:17557021 | chr1:32670811 | ENST00000373602 | 0 | 6 | 158_183 | 0 | 201.0 | Coiled coil | Ontology_term=ECO:0000255 | |
Tgene | CCDC28B | chr6:17557021 | chr1:32670811 | ENST00000421922 | 0 | 5 | 158_183 | 0 | 242.0 | Coiled coil | Ontology_term=ECO:0000255 |
- 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 |
Hgene | CAP2 | chr6:17557021 | chr1:32670811 | ENST00000229922 | - | 1 | 13 | 232_245 | 0 | 478.0 | Compositional bias | Note=Poly-Pro |
Hgene | CAP2 | chr6:17557021 | chr1:32670811 | ENST00000229922 | - | 1 | 13 | 317_455 | 0 | 478.0 | Domain | C-CAP/cofactor C-like |
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Fusion Gene Sequence for CAP2-CCDC28B |
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>12827_12827_1_CAP2-CCDC28B_CAP2_chr6_17557021_ENST00000378990_CCDC28B_chr1_32670811_ENST00000373602_length(transcript)=1989nt_BP=1812nt GGAGGGAGAGGGGAGGAGAAGGGGAGGGCCGCGGGAGGAGGGTACGAGTGGCCGACCACGGATTTGCATTGCCGAGGACGGGACCCCAGG GCAGCGAAGCAGAATGGCCAACATGCAGGGACTGGTGGAAAGACTGGAACGAGCTGTCAGCCGCCTGGAGTCGCTGTCTGCAGAGTCCCA CAGGCCCCCTGGGAACTGCGGGGAAGTCAATGGTGTCATTGCAGGTGTGGCACCCTCCGTGGAAGCCTTTGACAAGCTGATGGACAGTAT GGTGGCCGAGTTTTTAAAGAACAGTAGGATCCTTGCTGGGGACGTGGAGACCCATAATGACGTGGCCGCACTTCTGAAACCCATATCGGA AAAGATTCAGGAAATCCAAACTTTCAGAGAGAGAAACCGGGGGAGTAACATGTTTAATCATCTTTCGGCCGTCAGCGAAAGCATCCCTGC CCTTGGATGGATAGCTGTGTCTCCCAAACCTGGTCCTTATGTCAAGGAGATGAATGACGCTGCCACCTTTTACACTAACAGGGTCTTAAA GGACTACAAACACAGTGATTTGCGTCATGTGGATTGGGTGAAGTCATATTTGAACATTTGGAGTGAACTTCAAGCATACATCAAGGAACA CCACACCACGGGCCTCACATGGAGCAAAACAGGTCCTGTAGCATCCACAGTATCAGCGTTTTCTGTCCTCTCCTCTGGGCCTGGCCTTCC TCCACCCCCTCCTCCTCTGCCTCCTCCAGGGCCACCTCCACTTTTCGAGAATGAAGGCAAAAAAGAGGAATCTTCTCCTTCACGCTCAGC TTTATTTGCCCAACTTAACCAGGGAGAAGCAATTACAAAAGGGCTCCGCCATGTCACAGATGACCAGAAGACATACAAAAATCCCAGCCT GCGGGCTCAAGGAGGGCAAACTCAATCTCCCACCAAAAGTCACACTCCAAGTCCCACATCTCCTAAATCTTATCCTTCTCAAAAACATGC CCCAGTGTTGGAGTTGGAAGGAAAGAAATGGAGAGTGGAGTACCAAGAGGACAGGAATGACCTTGTGATTTCAGAGACTGAGCTGAAACA AGTGGCTTACATTTTCAAATGCGAAAAATCAACTATTCAGATAAAAGGGAAAGTAAACTCCATTATAATTGACAACTGTAAAAAACTCGG CCTGGTGTTTGACAATGTGGTGGGCATTGTGGAAGTGATCAACTCCCAGGACATTCAAATCCAGGTAATGGGGAGAGTGCCAACAATTTC CATTAATAAGACAGAAGGTTGCCACATATACCTCAGTGAAGATGCATTAGACTGTGAGATCGTGAGCGCCAAGTCATCTGAAATGAACAT ACTTATCCCTCAGGATGGTGATTATAGAGAATTTCCCATTCCTGAACAGTTCAAGACAGCATGGGATGGATCCAAGTTAATCACTGAACC TGCAGAAATTATGGCCTAACTTCCTGAGAGACCGAACCCCCTCACCTGAATCCCCCTCTATCAAACAAACAAAAAAGCAGCAGTAAAGAG CTAGAAGTTGCAGTAGCCCCTACTGCTTTAGCTTTGGCCTCCAACGATTCTGTGCTATAGATACAGCACTGTTTCTGGCACGCCTCGTGG GCATTTTGAAATATTTAACGTTTCCTCATGATTTGCCTTTGTGTGTGATTTTAGTTCCACATGATGACTTGTGAACATTAGGGATTTAAA GGAAAAAAAAAAAGAATTCTGTTCCCCTCATATCATGAACACAGTAACTGATAGGTAAAAAGACTGCATGATTCACTTTTACACTTATAT TTCATTGCTAGTCCGAGAACGCCGAGCCTGAGGAGCAGTCCGCTGCGTAGGCGTCCCACGCAGGCCCACACTGCCCCTCTCATTCTCTTC AAACTGTGACTTTTTACAGACTCGGGCGGGTGTTCTGCGGCCCCCCAGGTGCTATGGGGGAGGGGGGCGTTGAATGGAATTAAACCAGAA >12827_12827_1_CAP2-CCDC28B_CAP2_chr6_17557021_ENST00000378990_CCDC28B_chr1_32670811_ENST00000373602_length(amino acids)=451AA_BP= MANMQGLVERLERAVSRLESLSAESHRPPGNCGEVNGVIAGVAPSVEAFDKLMDSMVAEFLKNSRILAGDVETHNDVAALLKPISEKIQE IQTFRERNRGSNMFNHLSAVSESIPALGWIAVSPKPGPYVKEMNDAATFYTNRVLKDYKHSDLRHVDWVKSYLNIWSELQAYIKEHHTTG LTWSKTGPVASTVSAFSVLSSGPGLPPPPPPLPPPGPPPLFENEGKKEESSPSRSALFAQLNQGEAITKGLRHVTDDQKTYKNPSLRAQG GQTQSPTKSHTPSPTSPKSYPSQKHAPVLELEGKKWRVEYQEDRNDLVISETELKQVAYIFKCEKSTIQIKGKVNSIIIDNCKKLGLVFD NVVGIVEVINSQDIQIQVMGRVPTISINKTEGCHIYLSEDALDCEIVSAKSSEMNILIPQDGDYREFPIPEQFKTAWDGSKLITEPAEIM -------------------------------------------------------------- |
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Fusion Gene PPI Analysis for CAP2-CCDC28B |
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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 CAP2-CCDC28B |
![]() (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 CAP2-CCDC28B |
![]() (DisGeNet 4.0) |
Partner | Gene | Disease ID | Disease name | # pubmeds | Source |
Hgene | CAP2 | C0340427 | Familial dilated cardiomyopathy | 1 | ORPHANET |
Hgene | CAP2 | C2239176 | Liver carcinoma | 1 | CTD_human |
Tgene | C2936862 | Bardet-Biedl syndrome 1 (disorder) | 1 | CTD_human;GENOMICS_ENGLAND | |
Tgene | C4277690 | Ciliopathies | 1 | GENOMICS_ENGLAND |