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Fusion gene ID: 5399 |
FusionGeneSummary for CAMSAP2_MCCC1 |
 Fusion gene summary |
| Fusion gene information | Fusion gene name: CAMSAP2_MCCC1 | Fusion gene ID: 5399 | Hgene | Tgene | Gene symbol | CAMSAP2 | MCCC1 | Gene ID | 23271 | 56922 |
| Gene name | calmodulin regulated spectrin associated protein family member 2 | methylcrotonoyl-CoA carboxylase 1 | |
| Synonyms | CAMSAP1L1 | MCC-B|MCCA | |
| Cytomap | 1q32.1 | 3q27.1 | |
| Type of gene | protein-coding | protein-coding | |
| Description | calmodulin-regulated spectrin-associated protein 2calmodulin-regulated spectrin-associated protein 1-like protein 1 | methylcrotonoyl-CoA carboxylase subunit alpha, mitochondrial3-methylcrotonyl-CoA carboxylase 13-methylcrotonyl-CoA carboxylase biotin-containing subunit3-methylcrotonyl-CoA:carbon dioxide ligase subunit alphaMCCase subunit alphamethylcrotonoyl-CoA ca | |
| Modification date | 20180523 | 20180522 | |
| UniProtAcc | Q08AD1 | Q96RQ3 | |
| Ensembl transtripts involved in fusion gene | ENST00000358823, ENST00000413307, ENST00000236925, | ENST00000265594, ENST00000492597, ENST00000539926, ENST00000489909, | |
| Fusion gene scores | * DoF score | 8 X 7 X 4=224 | 5 X 6 X 4=120 |
| # samples | 10 | 5 | |
| ** MAII score | log2(10/224*10)=-1.16349873228288 possibly effective Gene in Pan-Cancer Fusion Genes (peGinPCFGs). DoF>8 and MAII<0 | log2(5/120*10)=-1.26303440583379 possibly effective Gene in Pan-Cancer Fusion Genes (peGinPCFGs). DoF>8 and MAII<0 | |
| Context | PubMed: CAMSAP2 [Title/Abstract] AND MCCC1 [Title/Abstract] AND fusion [Title/Abstract] | ||
| Functional or gene categories assigned by FusionGDB annotation | |||
| * 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 | CAMSAP2 | GO:0000226 | microtubule cytoskeleton organization | 24486153|24706919|24908486|27666745 |
| Hgene | CAMSAP2 | GO:0031113 | regulation of microtubule polymerization | 24486153|24706919 |
| Hgene | CAMSAP2 | GO:0050773 | regulation of dendrite development | 24908486 |
| Hgene | CAMSAP2 | GO:0061564 | axon development | 24908486 |
| Hgene | CAMSAP2 | GO:1903358 | regulation of Golgi organization | 27666745 |
| Fusion gene information from three resources (ChiTars (NAR, 2018), tumorfusions (NAR, 2018), Gao et al. (Cell, 2018)) * 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. |
| Data type | Source | Cancer type | Sample | Hgene | Hchr | Hbp | Hstrand | Tgene | Tchr | Tbp | Tstrand |
| ChiTaRS3.1 | AW379082 | CAMSAP2 | chr1 | 200776570 | + | MCCC1 | chr3 | 182733326 | - |
| * LD: Li Ding group's fusion gene list RV: Roel Verhaak group's fusion gene list ChiTaRs fusion database |
| 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 |
| In-frame | ENST00000358823 | ENST00000265594 | CAMSAP2 | chr1 | 200776570 | + | MCCC1 | chr3 | 182733326 | - |
| In-frame | ENST00000358823 | ENST00000492597 | CAMSAP2 | chr1 | 200776570 | + | MCCC1 | chr3 | 182733326 | - |
| 5CDS-intron | ENST00000358823 | ENST00000539926 | CAMSAP2 | chr1 | 200776570 | + | MCCC1 | chr3 | 182733326 | - |
| 5CDS-intron | ENST00000358823 | ENST00000489909 | CAMSAP2 | chr1 | 200776570 | + | MCCC1 | chr3 | 182733326 | - |
| In-frame | ENST00000413307 | ENST00000265594 | CAMSAP2 | chr1 | 200776570 | + | MCCC1 | chr3 | 182733326 | - |
| In-frame | ENST00000413307 | ENST00000492597 | CAMSAP2 | chr1 | 200776570 | + | MCCC1 | chr3 | 182733326 | - |
| 5CDS-intron | ENST00000413307 | ENST00000539926 | CAMSAP2 | chr1 | 200776570 | + | MCCC1 | chr3 | 182733326 | - |
| 5CDS-intron | ENST00000413307 | ENST00000489909 | CAMSAP2 | chr1 | 200776570 | + | MCCC1 | chr3 | 182733326 | - |
| In-frame | ENST00000236925 | ENST00000265594 | CAMSAP2 | chr1 | 200776570 | + | MCCC1 | chr3 | 182733326 | - |
| In-frame | ENST00000236925 | ENST00000492597 | CAMSAP2 | chr1 | 200776570 | + | MCCC1 | chr3 | 182733326 | - |
| 5CDS-intron | ENST00000236925 | ENST00000539926 | CAMSAP2 | chr1 | 200776570 | + | MCCC1 | chr3 | 182733326 | - |
| 5CDS-intron | ENST00000236925 | ENST00000489909 | CAMSAP2 | chr1 | 200776570 | + | MCCC1 | chr3 | 182733326 | - |
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FusionProtFeatures for CAMSAP2_MCCC1 |
| Main function of each fusion partner protein. (from UniProt) |
| Hgene | Tgene |
| CAMSAP2 | MCCC1 |
| Key microtubule-organizing protein that specificallybinds the minus-end of non-centrosomal microtubules and regulatestheir dynamics and organization (PubMed:23169647, PubMed:24486153,PubMed:24706919). Specifically recognizes growing microtubuleminus-ends and autonomously decorates and stabilizes microtubulelattice formed by microtubule minus-end polymerization(PubMed:24486153, PubMed:24706919). Acts on free microtubuleminus-ends that are not capped by microtubule-nucleating proteinsor other factors and protects microtubule minus-ends fromdepolymerization (PubMed:24486153, PubMed:24706919). In addition,it also reduces the velocity of microtubule polymerization(PubMed:24486153, PubMed:24706919). Through the microtubulecytoskeleton, also regulates the organization of cellularorganelles including the Golgi and the early endosomes(PubMed:27666745). Essential for the tethering, but not fornucleation of non-centrosomal microtubules at the Golgi: togetherwith Golgi-associated proteins AKAP9 and PDE4DIP, required totether non-centrosomal minus-end microtubules to the Golgi, animportant step for polarized cell movement (PubMed:27666745). Alsoacts as a regulator of neuronal polarity and development:localizes to non-centrosomal microtubule minus-ends in neurons andstabilizes non-centrosomal microtubules, which is required forneuronal polarity, axon specification and dendritic branchformation (PubMed:24908486). Through the microtubule cytoskeleton,regulates the autophagosome transport (PubMed:28726242).{ECO:0000269|PubMed:23169647, ECO:0000269|PubMed:24486153,ECO:0000269|PubMed:24706919, ECO:0000269|PubMed:24908486,ECO:0000269|PubMed:27666745, ECO:0000269|PubMed:28726242}. | Biotin-attachment subunit of the 3-methylcrotonyl-CoAcarboxylase, an enzyme that catalyzes the conversion of 3-methylcrotonyl-CoA to 3-methylglutaconyl-CoA, a critical step forleucine and isovaleric acid catabolism.{ECO:0000269|PubMed:17360195}. |
| 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 |
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FusionGeneSequence for CAMSAP2_MCCC1 |
| For in-frame fusion transcripts, we provide the fusion transcript sequences and fusion amino acid sequences. (nt: nucleotides, aa: amino acids) |
| * Fusion amino acid sequences. |
| >In-frame_CAMSAP2_ENST00000358823_chr1_200776570_+_MCCC1_ENST00000265594_chr3_182733326_-_0aa >In-frame_CAMSAP2_ENST00000358823_chr1_200776570_+_MCCC1_ENST00000492597_chr3_182733326_-_0aa >In-frame_CAMSAP2_ENST00000413307_chr1_200776570_+_MCCC1_ENST00000265594_chr3_182733326_-_0aa >In-frame_CAMSAP2_ENST00000413307_chr1_200776570_+_MCCC1_ENST00000492597_chr3_182733326_-_0aa >In-frame_CAMSAP2_ENST00000236925_chr1_200776570_+_MCCC1_ENST00000265594_chr3_182733326_-_0aa >In-frame_CAMSAP2_ENST00000236925_chr1_200776570_+_MCCC1_ENST00000492597_chr3_182733326_-_0aa |
| * Fusion transcript sequences (only coding sequence (CDS) region). |
| >In-frame_CAMSAP2_ENST00000358823_chr1_200776570_+_MCCC1_ENST00000265594_chr3_182733326_-_0nt >In-frame_CAMSAP2_ENST00000358823_chr1_200776570_+_MCCC1_ENST00000492597_chr3_182733326_-_0nt >In-frame_CAMSAP2_ENST00000413307_chr1_200776570_+_MCCC1_ENST00000265594_chr3_182733326_-_0nt >In-frame_CAMSAP2_ENST00000413307_chr1_200776570_+_MCCC1_ENST00000492597_chr3_182733326_-_0nt >In-frame_CAMSAP2_ENST00000236925_chr1_200776570_+_MCCC1_ENST00000265594_chr3_182733326_-_0nt >In-frame_CAMSAP2_ENST00000236925_chr1_200776570_+_MCCC1_ENST00000492597_chr3_182733326_-_0nt |
| * Fusion transcript sequences (Full-length transcript). |
| >In-frame_CAMSAP2_ENST00000358823_chr1_200776570_+_MCCC1_ENST00000265594_chr3_182733326_-_0nt >In-frame_CAMSAP2_ENST00000358823_chr1_200776570_+_MCCC1_ENST00000492597_chr3_182733326_-_0nt >In-frame_CAMSAP2_ENST00000413307_chr1_200776570_+_MCCC1_ENST00000265594_chr3_182733326_-_0nt >In-frame_CAMSAP2_ENST00000413307_chr1_200776570_+_MCCC1_ENST00000492597_chr3_182733326_-_0nt >In-frame_CAMSAP2_ENST00000236925_chr1_200776570_+_MCCC1_ENST00000265594_chr3_182733326_-_0nt >In-frame_CAMSAP2_ENST00000236925_chr1_200776570_+_MCCC1_ENST00000492597_chr3_182733326_-_0nt |
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FusionGenePPI for CAMSAP2_MCCC1 |
| 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 |
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RelatedDrugs for CAMSAP2_MCCC1 |
| Drugs targeting genes involved in this fusion gene. (DrugBank Version 5.1.0 2018-04-02) |
| Partner | Gene | UniProtAcc | DrugBank ID | Drug name | Drug activity | Drug type | Drug status |
| Tgene | MCCC1 | Q96RQ3 | DB00121 | Biotin | Methylcrotonoyl-CoA carboxylase subunit alpha, mitochondrial | small molecule | approved|investigational|nutraceutical |
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RelatedDiseases for CAMSAP2_MCCC1 |
| Diseases associated with fusion partners. (DisGeNet 4.0) |
| Partner | Gene | Disease ID | Disease name | # pubmeds | Source |
| Tgene | MCCC1 | C0268600 | 3-methylcrotonyl CoA carboxylase 1 deficiency | 5 | CTD_human;ORPHANET;UNIPROT |
Copyright 2018-Present -The University of Texas Health Science Center at Houston (UTHealth)
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