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Fusion gene ID: 22095 |
FusionGeneSummary for MKLN1_AMTN |
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Fusion gene information | Fusion gene name: MKLN1_AMTN | Fusion gene ID: 22095 | Hgene | Tgene | Gene symbol | MKLN1 | AMTN | Gene ID | 4289 | 401138 |
Gene name | muskelin 1 | amelotin | |
Synonyms | TWA2 | AI3B|UNQ689 | |
Cytomap | 7q32.3 | 4q13.3 | |
Type of gene | protein-coding | protein-coding | |
Description | muskelinmuskelin 1, intracellular mediator containing kelch motifs | amelotinRSTI689 | |
Modification date | 20180522 | 20180523 | |
UniProtAcc | Q9UL63 | Q6UX39 | |
Ensembl transtripts involved in fusion gene | ENST00000421797, ENST00000429546, ENST00000352689, ENST00000498778, | ENST00000339336, ENST00000504451, | |
Fusion gene scores | * DoF score | 9 X 9 X 6=486 | 2 X 2 X 2=8 |
# samples | 9 | 2 | |
** MAII score | log2(9/486*10)=-2.43295940727611 possibly effective Gene in Pan-Cancer Fusion Genes (peGinPCFGs). DoF>8 and MAII<0 | log2(2/8*10)=1.32192809488736 | |
Context | PubMed: MKLN1 [Title/Abstract] AND AMTN [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 |
Tgene | AMTN | GO:0070169 | positive regulation of biomineral tissue development | 25407797 |
![]() (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 |
TCGA | RV | PRAD | TCGA-HC-7821-01A | MKLN1 | chr7 | 130887733 | + | AMTN | chr4 | 71394440 | + |
* 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-3CDS | ENST00000421797 | ENST00000339336 | MKLN1 | chr7 | 130887733 | + | AMTN | chr4 | 71394440 | + |
intron-3CDS | ENST00000421797 | ENST00000504451 | MKLN1 | chr7 | 130887733 | + | AMTN | chr4 | 71394440 | + |
intron-3CDS | ENST00000429546 | ENST00000339336 | MKLN1 | chr7 | 130887733 | + | AMTN | chr4 | 71394440 | + |
intron-3CDS | ENST00000429546 | ENST00000504451 | MKLN1 | chr7 | 130887733 | + | AMTN | chr4 | 71394440 | + |
intron-3CDS | ENST00000352689 | ENST00000339336 | MKLN1 | chr7 | 130887733 | + | AMTN | chr4 | 71394440 | + |
intron-3CDS | ENST00000352689 | ENST00000504451 | MKLN1 | chr7 | 130887733 | + | AMTN | chr4 | 71394440 | + |
intron-3CDS | ENST00000498778 | ENST00000339336 | MKLN1 | chr7 | 130887733 | + | AMTN | chr4 | 71394440 | + |
intron-3CDS | ENST00000498778 | ENST00000504451 | MKLN1 | chr7 | 130887733 | + | AMTN | chr4 | 71394440 | + |
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FusionProtFeatures for MKLN1_AMTN |
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Hgene | Tgene |
MKLN1 | AMTN |
Acts as a mediator of cell spreading and cytoskeletalresponses to the extracellular matrix component THBS1.{ECO:0000250|UniProtKB:O89050}. | Is a promoter of calcium phosphate mineralization,playing a critical role in the formation of the compact,mineralized, aprismatic enamel surface layer during the maturationstage of amelogenesis. {ECO:0000269|PubMed:25407797}. |
![]() * 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 MKLN1_AMTN |
![]() (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 MKLN1_AMTN |
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Hgene | Hgene's interactors | Tgene | Tgene's interactors |
MKLN1 | RNPS1, MYC, RANBP9, ELAVL1, MKLN1, MAEA, GID8, RMND5A, SOX2, PTGER3, GDNF, GLIPR1L2, MMP7, SFRP2, TDGF1, GGH, MRPL4, GPS2, NR1H3, HLA-DPB1, ADCYAP1, PRG2, IFI30, UNK, DYNC1H1, BMP1, PRG3, INSL6, PIGT, CCDC120, TIGD5, SUCLA2, NFATC1, LILRB4, CARKD, IKZF1, C4orf27, TLE4, ARMC8, ZMYND19, GID4, HTRA2, WDR26, PMFBP1, AAMP, MMADHC, HSPBP1, LONP1, RSPH10B, NDUFS2, SOAT1, RMND5B, YPEL5, RANBP10, RAB8A, TRIM25 | AMTN | LRRC40, SEC24D, PTPN1, RABL6, NARS, CYB5R3, PPID, CDK5RAP3, GINS4 |
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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 MKLN1_AMTN |
![]() (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 MKLN1_AMTN |
![]() (DisGeNet 4.0) |
Partner | Gene | Disease ID | Disease name | # pubmeds | Source |