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Fusion gene ID: 7585 |
FusionGeneSummary for CMC1_MKLN1 |
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Fusion gene information | Fusion gene name: CMC1_MKLN1 | Fusion gene ID: 7585 | Hgene | Tgene | Gene symbol | CMC1 | MKLN1 | Gene ID | 152100 | 4289 |
Gene name | C-X9-C motif containing 1 | muskelin 1 | |
Synonyms | C3orf68 | TWA2 | |
Cytomap | 3p24.1 | 7q32.3 | |
Type of gene | protein-coding | protein-coding | |
Description | COX assembly mitochondrial protein homologC-x(9)-C motif containing 1COX assembly mitochondrial protein 1 homologCX9C mitochondrial protein required for full expression of COX 1cmc1pmitochondrial metallochaperone-like protein | muskelinmuskelin 1, intracellular mediator containing kelch motifs | |
Modification date | 20180523 | 20180522 | |
UniProtAcc | Q7Z7K0 | Q9UL63 | |
Ensembl transtripts involved in fusion gene | ENST00000466830, ENST00000423894, ENST00000469102, | ENST00000421797, ENST00000429546, ENST00000352689, ENST00000498778, | |
Fusion gene scores | * DoF score | 7 X 3 X 7=147 | 10 X 9 X 6=540 |
# samples | 8 | 11 | |
** MAII score | log2(8/147*10)=-0.877744249949002 possibly effective Gene in Pan-Cancer Fusion Genes (peGinPCFGs). DoF>8 and MAII<0 | log2(11/540*10)=-2.29545588352617 possibly effective Gene in Pan-Cancer Fusion Genes (peGinPCFGs). DoF>8 and MAII<0 | |
Context | PubMed: CMC1 [Title/Abstract] AND MKLN1 [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) |
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Partner | Gene | GO ID | GO term | PubMed ID |
![]() (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 | BP417368 | CMC1 | chr3 | 28289699 | + | MKLN1 | chr7 | 131177511 | + |
* LD: Li Ding group's fusion gene list RV: Roel Verhaak group's fusion gene list ChiTaRs fusion database |
![]() * 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-intron | ENST00000466830 | ENST00000421797 | CMC1 | chr3 | 28289699 | + | MKLN1 | chr7 | 131177511 | + |
intron-intron | ENST00000466830 | ENST00000429546 | CMC1 | chr3 | 28289699 | + | MKLN1 | chr7 | 131177511 | + |
intron-3UTR | ENST00000466830 | ENST00000352689 | CMC1 | chr3 | 28289699 | + | MKLN1 | chr7 | 131177511 | + |
intron-intron | ENST00000466830 | ENST00000498778 | CMC1 | chr3 | 28289699 | + | MKLN1 | chr7 | 131177511 | + |
intron-intron | ENST00000423894 | ENST00000421797 | CMC1 | chr3 | 28289699 | + | MKLN1 | chr7 | 131177511 | + |
intron-intron | ENST00000423894 | ENST00000429546 | CMC1 | chr3 | 28289699 | + | MKLN1 | chr7 | 131177511 | + |
intron-3UTR | ENST00000423894 | ENST00000352689 | CMC1 | chr3 | 28289699 | + | MKLN1 | chr7 | 131177511 | + |
intron-intron | ENST00000423894 | ENST00000498778 | CMC1 | chr3 | 28289699 | + | MKLN1 | chr7 | 131177511 | + |
intron-intron | ENST00000469102 | ENST00000421797 | CMC1 | chr3 | 28289699 | + | MKLN1 | chr7 | 131177511 | + |
intron-intron | ENST00000469102 | ENST00000429546 | CMC1 | chr3 | 28289699 | + | MKLN1 | chr7 | 131177511 | + |
intron-3UTR | ENST00000469102 | ENST00000352689 | CMC1 | chr3 | 28289699 | + | MKLN1 | chr7 | 131177511 | + |
intron-intron | ENST00000469102 | ENST00000498778 | CMC1 | chr3 | 28289699 | + | MKLN1 | chr7 | 131177511 | + |
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FusionProtFeatures for CMC1_MKLN1 |
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Hgene | Tgene |
CMC1 | MKLN1 |
Component of the MITRAC (mitochondrial translationregulation assembly intermediate of cytochrome c oxidase complex)complex, that regulates cytochrome c oxidase assembly.{ECO:0000250}. | Acts as a mediator of cell spreading and cytoskeletalresponses to the extracellular matrix component THBS1.{ECO:0000250|UniProtKB:O89050}. |
![]() * 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 CMC1_MKLN1 |
![]() (nt: nucleotides, aa: amino acids) |
* Fusion amino acid sequences. |
* Fusion transcript sequences (only coding sequence (CDS) region). |
* Fusion transcript sequences (Full-length transcript). |
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FusionGenePPI for CMC1_MKLN1 |
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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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RelatedDrugs for CMC1_MKLN1 |
![]() (DrugBank Version 5.1.0 2018-04-02) |
Partner | Gene | UniProtAcc | DrugBank ID | Drug name | Drug activity | Drug type | Drug status |
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RelatedDiseases for CMC1_MKLN1 |
![]() (DisGeNet 4.0) |
Partner | Gene | Disease ID | Disease name | # pubmeds | Source |