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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:MITF-FOXP1 (FusionGDB2 ID:53660) |
Fusion Gene Summary for MITF-FOXP1 |
Fusion gene summary |
Fusion gene information | Fusion gene name: MITF-FOXP1 | Fusion gene ID: 53660 | Hgene | Tgene | Gene symbol | MITF | FOXP1 | Gene ID | 4286 | 27086 |
Gene name | melanocyte inducing transcription factor | forkhead box P1 | |
Synonyms | CMM8|COMMAD|MI|WS2|WS2A|bHLHe32 | 12CC4|HSPC215|MFH|QRF1|hFKH1B | |
Cytomap | 3p13 | 3p13 | |
Type of gene | protein-coding | protein-coding | |
Description | microphthalmia-associated transcription factorclass E basic helix-loop-helix protein 32melanogenesis associated transcription factormicrophtalmia-associated transcription factor | forkhead box protein P1fork head-related protein like Bglutamine-rich factor 1mac-1-regulated forkhead | |
Modification date | 20200329 | 20200329 | |
UniProtAcc | O75030 | Q9H334 | |
Ensembl transtripts involved in fusion gene | ENST00000352241, ENST00000448226, ENST00000472437, ENST00000328528, ENST00000314589, ENST00000394355, ENST00000314557, ENST00000394351, ENST00000531774, ENST00000394348, | ENST00000318789, ENST00000475937, ENST00000493089, ENST00000484350, ENST00000318779, ENST00000491238, ENST00000498215, ENST00000468577, ENST00000472382, | |
Fusion gene scores | * DoF score | 11 X 6 X 6=396 | 47 X 26 X 20=24440 |
# samples | 9 | 52 | |
** MAII score | log2(9/396*10)=-2.13750352374993 possibly effective Gene in Pan-Cancer Fusion Genes (peGinPCFGs). DoF>8 and MAII<0 | log2(52/24440*10)=-5.55458885167764 possibly effective Gene in Pan-Cancer Fusion Genes (peGinPCFGs). DoF>8 and MAII<0 | |
Context | PubMed: MITF [Title/Abstract] AND FOXP1 [Title/Abstract] AND fusion [Title/Abstract] | ||
Most frequent breakpoint | MITF(69788852)-FOXP1(71027180), # samples:1 MITF(70017484)-FOXP1(71007472), # samples:1 | ||
Anticipated loss of major functional domain due to fusion event. | MITF-FOXP1 seems lost the major protein functional domain in Hgene partner, which is a transcription factor due to the frame-shifted ORF. MITF-FOXP1 seems lost the major protein functional domain in Hgene partner, which is a CGC due to the frame-shifted ORF. MITF-FOXP1 seems lost the major protein functional domain in Tgene partner, which is a transcription factor due to the frame-shifted ORF. MITF-FOXP1 seems lost the major protein functional domain in Tgene partner, which is a CGC due to the frame-shifted ORF. MITF-FOXP1 seems lost the major protein functional domain in Tgene partner, which is a tumor suppressor due to the frame-shifted ORF. MITF-FOXP1 seems lost the major protein functional domain in Tgene partner, which is a epigenetic factor due to the frame-shifted ORF. |
* 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 | MITF | GO:0010628 | positive regulation of gene expression | 22234890 |
Hgene | MITF | GO:0045893 | positive regulation of transcription, DNA-templated | 9647758 |
Hgene | MITF | GO:0045944 | positive regulation of transcription by RNA polymerase II | 20530484|21209915 |
Hgene | MITF | GO:0065003 | protein-containing complex assembly | 20530484 |
Hgene | MITF | GO:2000144 | positive regulation of DNA-templated transcription, initiation | 8995290|12204775 |
Hgene | MITF | GO:2001141 | regulation of RNA biosynthetic process | 16411896 |
Tgene | FOXP1 | GO:0002903 | negative regulation of B cell apoptotic process | 25267198 |
Tgene | FOXP1 | GO:0010629 | negative regulation of gene expression | 30111844 |
Tgene | FOXP1 | GO:0030316 | osteoclast differentiation | 18799727 |
Tgene | FOXP1 | GO:0032496 | response to lipopolysaccharide | 18799727 |
Tgene | FOXP1 | GO:0032680 | regulation of tumor necrosis factor production | 18799727 |
Tgene | FOXP1 | GO:0035926 | chemokine (C-C motif) ligand 2 secretion | 18799727 |
Tgene | FOXP1 | GO:0036035 | osteoclast development | 18799727 |
Tgene | FOXP1 | GO:0042116 | macrophage activation | 18799727 |
Tgene | FOXP1 | GO:0042117 | monocyte activation | 18799727 |
Tgene | FOXP1 | GO:0045655 | regulation of monocyte differentiation | 15286807 |
Tgene | FOXP1 | GO:0045892 | negative regulation of transcription, DNA-templated | 20950788 |
Tgene | FOXP1 | GO:0050706 | regulation of interleukin-1 beta secretion | 18799727 |
Tgene | FOXP1 | GO:0050727 | regulation of inflammatory response | 18799727 |
Tgene | FOXP1 | GO:0060766 | negative regulation of androgen receptor signaling pathway | 18640093 |
Tgene | FOXP1 | GO:1900424 | regulation of defense response to bacterium | 18799727 |
Tgene | FOXP1 | GO:1901256 | regulation of macrophage colony-stimulating factor production | 18799727 |
Tgene | FOXP1 | GO:2001182 | regulation of interleukin-12 secretion | 18799727 |
Fusion gene breakpoints across MITF (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 FOXP1 (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 |
ChimerDB4 | STAD | TCGA-CD-8530-01A | MITF | chr3 | 69788852 | + | FOXP1 | chr3 | 71027180 | - |
ChimerDB4 | SKCM | TCGA-D3-A2JG-06A | MITF | chr3 | 70017484 | - | FOXP1 | chr3 | 71007472 | - |
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Fusion Gene ORF analysis for MITF-FOXP1 |
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 |
Frame-shift | ENST00000352241 | ENST00000318789 | MITF | chr3 | 69788852 | + | FOXP1 | chr3 | 71027180 | - |
Frame-shift | ENST00000352241 | ENST00000475937 | MITF | chr3 | 69788852 | + | FOXP1 | chr3 | 71027180 | - |
Frame-shift | ENST00000352241 | ENST00000493089 | MITF | chr3 | 69788852 | + | FOXP1 | chr3 | 71027180 | - |
Frame-shift | ENST00000352241 | ENST00000484350 | MITF | chr3 | 69788852 | + | FOXP1 | chr3 | 71027180 | - |
5CDS-intron | ENST00000352241 | ENST00000318779 | MITF | chr3 | 69788852 | + | FOXP1 | chr3 | 71027180 | - |
5CDS-intron | ENST00000352241 | ENST00000491238 | MITF | chr3 | 69788852 | + | FOXP1 | chr3 | 71027180 | - |
5CDS-intron | ENST00000352241 | ENST00000498215 | MITF | chr3 | 69788852 | + | FOXP1 | chr3 | 71027180 | - |
5CDS-intron | ENST00000352241 | ENST00000468577 | MITF | chr3 | 69788852 | + | FOXP1 | chr3 | 71027180 | - |
5CDS-intron | ENST00000352241 | ENST00000472382 | MITF | chr3 | 69788852 | + | FOXP1 | chr3 | 71027180 | - |
Frame-shift | ENST00000448226 | ENST00000318789 | MITF | chr3 | 69788852 | + | FOXP1 | chr3 | 71027180 | - |
Frame-shift | ENST00000448226 | ENST00000475937 | MITF | chr3 | 69788852 | + | FOXP1 | chr3 | 71027180 | - |
Frame-shift | ENST00000448226 | ENST00000493089 | MITF | chr3 | 69788852 | + | FOXP1 | chr3 | 71027180 | - |
Frame-shift | ENST00000448226 | ENST00000484350 | MITF | chr3 | 69788852 | + | FOXP1 | chr3 | 71027180 | - |
5CDS-intron | ENST00000448226 | ENST00000318779 | MITF | chr3 | 69788852 | + | FOXP1 | chr3 | 71027180 | - |
5CDS-intron | ENST00000448226 | ENST00000491238 | MITF | chr3 | 69788852 | + | FOXP1 | chr3 | 71027180 | - |
5CDS-intron | ENST00000448226 | ENST00000498215 | MITF | chr3 | 69788852 | + | FOXP1 | chr3 | 71027180 | - |
5CDS-intron | ENST00000448226 | ENST00000468577 | MITF | chr3 | 69788852 | + | FOXP1 | chr3 | 71027180 | - |
5CDS-intron | ENST00000448226 | ENST00000472382 | MITF | chr3 | 69788852 | + | FOXP1 | chr3 | 71027180 | - |
intron-3CDS | ENST00000472437 | ENST00000318789 | MITF | chr3 | 69788852 | + | FOXP1 | chr3 | 71027180 | - |
intron-3CDS | ENST00000472437 | ENST00000475937 | MITF | chr3 | 69788852 | + | FOXP1 | chr3 | 71027180 | - |
intron-3CDS | ENST00000472437 | ENST00000493089 | MITF | chr3 | 69788852 | + | FOXP1 | chr3 | 71027180 | - |
intron-3CDS | ENST00000472437 | ENST00000484350 | MITF | chr3 | 69788852 | + | FOXP1 | chr3 | 71027180 | - |
intron-intron | ENST00000472437 | ENST00000318779 | MITF | chr3 | 69788852 | + | FOXP1 | chr3 | 71027180 | - |
intron-intron | ENST00000472437 | ENST00000491238 | MITF | chr3 | 69788852 | + | FOXP1 | chr3 | 71027180 | - |
intron-intron | ENST00000472437 | ENST00000498215 | MITF | chr3 | 69788852 | + | FOXP1 | chr3 | 71027180 | - |
intron-intron | ENST00000472437 | ENST00000468577 | MITF | chr3 | 69788852 | + | FOXP1 | chr3 | 71027180 | - |
intron-intron | ENST00000472437 | ENST00000472382 | MITF | chr3 | 69788852 | + | FOXP1 | chr3 | 71027180 | - |
intron-3CDS | ENST00000328528 | ENST00000318789 | MITF | chr3 | 69788852 | + | FOXP1 | chr3 | 71027180 | - |
intron-3CDS | ENST00000328528 | ENST00000475937 | MITF | chr3 | 69788852 | + | FOXP1 | chr3 | 71027180 | - |
intron-3CDS | ENST00000328528 | ENST00000493089 | MITF | chr3 | 69788852 | + | FOXP1 | chr3 | 71027180 | - |
intron-3CDS | ENST00000328528 | ENST00000484350 | MITF | chr3 | 69788852 | + | FOXP1 | chr3 | 71027180 | - |
intron-intron | ENST00000328528 | ENST00000318779 | MITF | chr3 | 69788852 | + | FOXP1 | chr3 | 71027180 | - |
intron-intron | ENST00000328528 | ENST00000491238 | MITF | chr3 | 69788852 | + | FOXP1 | chr3 | 71027180 | - |
intron-intron | ENST00000328528 | ENST00000498215 | MITF | chr3 | 69788852 | + | FOXP1 | chr3 | 71027180 | - |
intron-intron | ENST00000328528 | ENST00000468577 | MITF | chr3 | 69788852 | + | FOXP1 | chr3 | 71027180 | - |
intron-intron | ENST00000328528 | ENST00000472382 | MITF | chr3 | 69788852 | + | FOXP1 | chr3 | 71027180 | - |
intron-3CDS | ENST00000314589 | ENST00000318789 | MITF | chr3 | 69788852 | + | FOXP1 | chr3 | 71027180 | - |
intron-3CDS | ENST00000314589 | ENST00000475937 | MITF | chr3 | 69788852 | + | FOXP1 | chr3 | 71027180 | - |
intron-3CDS | ENST00000314589 | ENST00000493089 | MITF | chr3 | 69788852 | + | FOXP1 | chr3 | 71027180 | - |
intron-3CDS | ENST00000314589 | ENST00000484350 | MITF | chr3 | 69788852 | + | FOXP1 | chr3 | 71027180 | - |
intron-intron | ENST00000314589 | ENST00000318779 | MITF | chr3 | 69788852 | + | FOXP1 | chr3 | 71027180 | - |
intron-intron | ENST00000314589 | ENST00000491238 | MITF | chr3 | 69788852 | + | FOXP1 | chr3 | 71027180 | - |
intron-intron | ENST00000314589 | ENST00000498215 | MITF | chr3 | 69788852 | + | FOXP1 | chr3 | 71027180 | - |
intron-intron | ENST00000314589 | ENST00000468577 | MITF | chr3 | 69788852 | + | FOXP1 | chr3 | 71027180 | - |
intron-intron | ENST00000314589 | ENST00000472382 | MITF | chr3 | 69788852 | + | FOXP1 | chr3 | 71027180 | - |
intron-3CDS | ENST00000394355 | ENST00000318789 | MITF | chr3 | 69788852 | + | FOXP1 | chr3 | 71027180 | - |
intron-3CDS | ENST00000394355 | ENST00000475937 | MITF | chr3 | 69788852 | + | FOXP1 | chr3 | 71027180 | - |
intron-3CDS | ENST00000394355 | ENST00000493089 | MITF | chr3 | 69788852 | + | FOXP1 | chr3 | 71027180 | - |
intron-3CDS | ENST00000394355 | ENST00000484350 | MITF | chr3 | 69788852 | + | FOXP1 | chr3 | 71027180 | - |
intron-intron | ENST00000394355 | ENST00000318779 | MITF | chr3 | 69788852 | + | FOXP1 | chr3 | 71027180 | - |
intron-intron | ENST00000394355 | ENST00000491238 | MITF | chr3 | 69788852 | + | FOXP1 | chr3 | 71027180 | - |
intron-intron | ENST00000394355 | ENST00000498215 | MITF | chr3 | 69788852 | + | FOXP1 | chr3 | 71027180 | - |
intron-intron | ENST00000394355 | ENST00000468577 | MITF | chr3 | 69788852 | + | FOXP1 | chr3 | 71027180 | - |
intron-intron | ENST00000394355 | ENST00000472382 | MITF | chr3 | 69788852 | + | FOXP1 | chr3 | 71027180 | - |
intron-3CDS | ENST00000314557 | ENST00000318789 | MITF | chr3 | 69788852 | + | FOXP1 | chr3 | 71027180 | - |
intron-3CDS | ENST00000314557 | ENST00000475937 | MITF | chr3 | 69788852 | + | FOXP1 | chr3 | 71027180 | - |
intron-3CDS | ENST00000314557 | ENST00000493089 | MITF | chr3 | 69788852 | + | FOXP1 | chr3 | 71027180 | - |
intron-3CDS | ENST00000314557 | ENST00000484350 | MITF | chr3 | 69788852 | + | FOXP1 | chr3 | 71027180 | - |
intron-intron | ENST00000314557 | ENST00000318779 | MITF | chr3 | 69788852 | + | FOXP1 | chr3 | 71027180 | - |
intron-intron | ENST00000314557 | ENST00000491238 | MITF | chr3 | 69788852 | + | FOXP1 | chr3 | 71027180 | - |
intron-intron | ENST00000314557 | ENST00000498215 | MITF | chr3 | 69788852 | + | FOXP1 | chr3 | 71027180 | - |
intron-intron | ENST00000314557 | ENST00000468577 | MITF | chr3 | 69788852 | + | FOXP1 | chr3 | 71027180 | - |
intron-intron | ENST00000314557 | ENST00000472382 | MITF | chr3 | 69788852 | + | FOXP1 | chr3 | 71027180 | - |
intron-3CDS | ENST00000394351 | ENST00000318789 | MITF | chr3 | 69788852 | + | FOXP1 | chr3 | 71027180 | - |
intron-3CDS | ENST00000394351 | ENST00000475937 | MITF | chr3 | 69788852 | + | FOXP1 | chr3 | 71027180 | - |
intron-3CDS | ENST00000394351 | ENST00000493089 | MITF | chr3 | 69788852 | + | FOXP1 | chr3 | 71027180 | - |
intron-3CDS | ENST00000394351 | ENST00000484350 | MITF | chr3 | 69788852 | + | FOXP1 | chr3 | 71027180 | - |
intron-intron | ENST00000394351 | ENST00000318779 | MITF | chr3 | 69788852 | + | FOXP1 | chr3 | 71027180 | - |
intron-intron | ENST00000394351 | ENST00000491238 | MITF | chr3 | 69788852 | + | FOXP1 | chr3 | 71027180 | - |
intron-intron | ENST00000394351 | ENST00000498215 | MITF | chr3 | 69788852 | + | FOXP1 | chr3 | 71027180 | - |
intron-intron | ENST00000394351 | ENST00000468577 | MITF | chr3 | 69788852 | + | FOXP1 | chr3 | 71027180 | - |
intron-intron | ENST00000394351 | ENST00000472382 | MITF | chr3 | 69788852 | + | FOXP1 | chr3 | 71027180 | - |
intron-3CDS | ENST00000531774 | ENST00000318789 | MITF | chr3 | 69788852 | + | FOXP1 | chr3 | 71027180 | - |
intron-3CDS | ENST00000531774 | ENST00000475937 | MITF | chr3 | 69788852 | + | FOXP1 | chr3 | 71027180 | - |
intron-3CDS | ENST00000531774 | ENST00000493089 | MITF | chr3 | 69788852 | + | FOXP1 | chr3 | 71027180 | - |
intron-3CDS | ENST00000531774 | ENST00000484350 | MITF | chr3 | 69788852 | + | FOXP1 | chr3 | 71027180 | - |
intron-intron | ENST00000531774 | ENST00000318779 | MITF | chr3 | 69788852 | + | FOXP1 | chr3 | 71027180 | - |
intron-intron | ENST00000531774 | ENST00000491238 | MITF | chr3 | 69788852 | + | FOXP1 | chr3 | 71027180 | - |
intron-intron | ENST00000531774 | ENST00000498215 | MITF | chr3 | 69788852 | + | FOXP1 | chr3 | 71027180 | - |
intron-intron | ENST00000531774 | ENST00000468577 | MITF | chr3 | 69788852 | + | FOXP1 | chr3 | 71027180 | - |
intron-intron | ENST00000531774 | ENST00000472382 | MITF | chr3 | 69788852 | + | FOXP1 | chr3 | 71027180 | - |
intron-3CDS | ENST00000394348 | ENST00000318789 | MITF | chr3 | 69788852 | + | FOXP1 | chr3 | 71027180 | - |
intron-3CDS | ENST00000394348 | ENST00000475937 | MITF | chr3 | 69788852 | + | FOXP1 | chr3 | 71027180 | - |
intron-3CDS | ENST00000394348 | ENST00000493089 | MITF | chr3 | 69788852 | + | FOXP1 | chr3 | 71027180 | - |
intron-3CDS | ENST00000394348 | ENST00000484350 | MITF | chr3 | 69788852 | + | FOXP1 | chr3 | 71027180 | - |
intron-intron | ENST00000394348 | ENST00000318779 | MITF | chr3 | 69788852 | + | FOXP1 | chr3 | 71027180 | - |
intron-intron | ENST00000394348 | ENST00000491238 | MITF | chr3 | 69788852 | + | FOXP1 | chr3 | 71027180 | - |
intron-intron | ENST00000394348 | ENST00000498215 | MITF | chr3 | 69788852 | + | FOXP1 | chr3 | 71027180 | - |
intron-intron | ENST00000394348 | ENST00000468577 | MITF | chr3 | 69788852 | + | FOXP1 | chr3 | 71027180 | - |
intron-intron | ENST00000394348 | ENST00000472382 | MITF | chr3 | 69788852 | + | FOXP1 | chr3 | 71027180 | - |
5CDS-3UTR | ENST00000352241 | ENST00000318789 | MITF | chr3 | 70017484 | - | FOXP1 | chr3 | 71007472 | - |
5CDS-3UTR | ENST00000352241 | ENST00000475937 | MITF | chr3 | 70017484 | - | FOXP1 | chr3 | 71007472 | - |
5CDS-intron | ENST00000352241 | ENST00000493089 | MITF | chr3 | 70017484 | - | FOXP1 | chr3 | 71007472 | - |
5CDS-intron | ENST00000352241 | ENST00000484350 | MITF | chr3 | 70017484 | - | FOXP1 | chr3 | 71007472 | - |
5CDS-intron | ENST00000352241 | ENST00000318779 | MITF | chr3 | 70017484 | - | FOXP1 | chr3 | 71007472 | - |
5CDS-intron | ENST00000352241 | ENST00000491238 | MITF | chr3 | 70017484 | - | FOXP1 | chr3 | 71007472 | - |
5CDS-intron | ENST00000352241 | ENST00000498215 | MITF | chr3 | 70017484 | - | FOXP1 | chr3 | 71007472 | - |
5CDS-intron | ENST00000352241 | ENST00000468577 | MITF | chr3 | 70017484 | - | FOXP1 | chr3 | 71007472 | - |
5CDS-intron | ENST00000352241 | ENST00000472382 | MITF | chr3 | 70017484 | - | FOXP1 | chr3 | 71007472 | - |
intron-3UTR | ENST00000448226 | ENST00000318789 | MITF | chr3 | 70017484 | - | FOXP1 | chr3 | 71007472 | - |
intron-3UTR | ENST00000448226 | ENST00000475937 | MITF | chr3 | 70017484 | - | FOXP1 | chr3 | 71007472 | - |
intron-intron | ENST00000448226 | ENST00000493089 | MITF | chr3 | 70017484 | - | FOXP1 | chr3 | 71007472 | - |
intron-intron | ENST00000448226 | ENST00000484350 | MITF | chr3 | 70017484 | - | FOXP1 | chr3 | 71007472 | - |
intron-intron | ENST00000448226 | ENST00000318779 | MITF | chr3 | 70017484 | - | FOXP1 | chr3 | 71007472 | - |
intron-intron | ENST00000448226 | ENST00000491238 | MITF | chr3 | 70017484 | - | FOXP1 | chr3 | 71007472 | - |
intron-intron | ENST00000448226 | ENST00000498215 | MITF | chr3 | 70017484 | - | FOXP1 | chr3 | 71007472 | - |
intron-intron | ENST00000448226 | ENST00000468577 | MITF | chr3 | 70017484 | - | FOXP1 | chr3 | 71007472 | - |
intron-intron | ENST00000448226 | ENST00000472382 | MITF | chr3 | 70017484 | - | FOXP1 | chr3 | 71007472 | - |
intron-3UTR | ENST00000472437 | ENST00000318789 | MITF | chr3 | 70017484 | - | FOXP1 | chr3 | 71007472 | - |
intron-3UTR | ENST00000472437 | ENST00000475937 | MITF | chr3 | 70017484 | - | FOXP1 | chr3 | 71007472 | - |
intron-intron | ENST00000472437 | ENST00000493089 | MITF | chr3 | 70017484 | - | FOXP1 | chr3 | 71007472 | - |
intron-intron | ENST00000472437 | ENST00000484350 | MITF | chr3 | 70017484 | - | FOXP1 | chr3 | 71007472 | - |
intron-intron | ENST00000472437 | ENST00000318779 | MITF | chr3 | 70017484 | - | FOXP1 | chr3 | 71007472 | - |
intron-intron | ENST00000472437 | ENST00000491238 | MITF | chr3 | 70017484 | - | FOXP1 | chr3 | 71007472 | - |
intron-intron | ENST00000472437 | ENST00000498215 | MITF | chr3 | 70017484 | - | FOXP1 | chr3 | 71007472 | - |
intron-intron | ENST00000472437 | ENST00000468577 | MITF | chr3 | 70017484 | - | FOXP1 | chr3 | 71007472 | - |
intron-intron | ENST00000472437 | ENST00000472382 | MITF | chr3 | 70017484 | - | FOXP1 | chr3 | 71007472 | - |
5CDS-3UTR | ENST00000328528 | ENST00000318789 | MITF | chr3 | 70017484 | - | FOXP1 | chr3 | 71007472 | - |
5CDS-3UTR | ENST00000328528 | ENST00000475937 | MITF | chr3 | 70017484 | - | FOXP1 | chr3 | 71007472 | - |
5CDS-intron | ENST00000328528 | ENST00000493089 | MITF | chr3 | 70017484 | - | FOXP1 | chr3 | 71007472 | - |
5CDS-intron | ENST00000328528 | ENST00000484350 | MITF | chr3 | 70017484 | - | FOXP1 | chr3 | 71007472 | - |
5CDS-intron | ENST00000328528 | ENST00000318779 | MITF | chr3 | 70017484 | - | FOXP1 | chr3 | 71007472 | - |
5CDS-intron | ENST00000328528 | ENST00000491238 | MITF | chr3 | 70017484 | - | FOXP1 | chr3 | 71007472 | - |
5CDS-intron | ENST00000328528 | ENST00000498215 | MITF | chr3 | 70017484 | - | FOXP1 | chr3 | 71007472 | - |
5CDS-intron | ENST00000328528 | ENST00000468577 | MITF | chr3 | 70017484 | - | FOXP1 | chr3 | 71007472 | - |
5CDS-intron | ENST00000328528 | ENST00000472382 | MITF | chr3 | 70017484 | - | FOXP1 | chr3 | 71007472 | - |
intron-3UTR | ENST00000314589 | ENST00000318789 | MITF | chr3 | 70017484 | - | FOXP1 | chr3 | 71007472 | - |
intron-3UTR | ENST00000314589 | ENST00000475937 | MITF | chr3 | 70017484 | - | FOXP1 | chr3 | 71007472 | - |
intron-intron | ENST00000314589 | ENST00000493089 | MITF | chr3 | 70017484 | - | FOXP1 | chr3 | 71007472 | - |
intron-intron | ENST00000314589 | ENST00000484350 | MITF | chr3 | 70017484 | - | FOXP1 | chr3 | 71007472 | - |
intron-intron | ENST00000314589 | ENST00000318779 | MITF | chr3 | 70017484 | - | FOXP1 | chr3 | 71007472 | - |
intron-intron | ENST00000314589 | ENST00000491238 | MITF | chr3 | 70017484 | - | FOXP1 | chr3 | 71007472 | - |
intron-intron | ENST00000314589 | ENST00000498215 | MITF | chr3 | 70017484 | - | FOXP1 | chr3 | 71007472 | - |
intron-intron | ENST00000314589 | ENST00000468577 | MITF | chr3 | 70017484 | - | FOXP1 | chr3 | 71007472 | - |
intron-intron | ENST00000314589 | ENST00000472382 | MITF | chr3 | 70017484 | - | FOXP1 | chr3 | 71007472 | - |
5CDS-3UTR | ENST00000394355 | ENST00000318789 | MITF | chr3 | 70017484 | - | FOXP1 | chr3 | 71007472 | - |
5CDS-3UTR | ENST00000394355 | ENST00000475937 | MITF | chr3 | 70017484 | - | FOXP1 | chr3 | 71007472 | - |
5CDS-intron | ENST00000394355 | ENST00000493089 | MITF | chr3 | 70017484 | - | FOXP1 | chr3 | 71007472 | - |
5CDS-intron | ENST00000394355 | ENST00000484350 | MITF | chr3 | 70017484 | - | FOXP1 | chr3 | 71007472 | - |
5CDS-intron | ENST00000394355 | ENST00000318779 | MITF | chr3 | 70017484 | - | FOXP1 | chr3 | 71007472 | - |
5CDS-intron | ENST00000394355 | ENST00000491238 | MITF | chr3 | 70017484 | - | FOXP1 | chr3 | 71007472 | - |
5CDS-intron | ENST00000394355 | ENST00000498215 | MITF | chr3 | 70017484 | - | FOXP1 | chr3 | 71007472 | - |
5CDS-intron | ENST00000394355 | ENST00000468577 | MITF | chr3 | 70017484 | - | FOXP1 | chr3 | 71007472 | - |
5CDS-intron | ENST00000394355 | ENST00000472382 | MITF | chr3 | 70017484 | - | FOXP1 | chr3 | 71007472 | - |
intron-3UTR | ENST00000314557 | ENST00000318789 | MITF | chr3 | 70017484 | - | FOXP1 | chr3 | 71007472 | - |
intron-3UTR | ENST00000314557 | ENST00000475937 | MITF | chr3 | 70017484 | - | FOXP1 | chr3 | 71007472 | - |
intron-intron | ENST00000314557 | ENST00000493089 | MITF | chr3 | 70017484 | - | FOXP1 | chr3 | 71007472 | - |
intron-intron | ENST00000314557 | ENST00000484350 | MITF | chr3 | 70017484 | - | FOXP1 | chr3 | 71007472 | - |
intron-intron | ENST00000314557 | ENST00000318779 | MITF | chr3 | 70017484 | - | FOXP1 | chr3 | 71007472 | - |
intron-intron | ENST00000314557 | ENST00000491238 | MITF | chr3 | 70017484 | - | FOXP1 | chr3 | 71007472 | - |
intron-intron | ENST00000314557 | ENST00000498215 | MITF | chr3 | 70017484 | - | FOXP1 | chr3 | 71007472 | - |
intron-intron | ENST00000314557 | ENST00000468577 | MITF | chr3 | 70017484 | - | FOXP1 | chr3 | 71007472 | - |
intron-intron | ENST00000314557 | ENST00000472382 | MITF | chr3 | 70017484 | - | FOXP1 | chr3 | 71007472 | - |
intron-3UTR | ENST00000394351 | ENST00000318789 | MITF | chr3 | 70017484 | - | FOXP1 | chr3 | 71007472 | - |
intron-3UTR | ENST00000394351 | ENST00000475937 | MITF | chr3 | 70017484 | - | FOXP1 | chr3 | 71007472 | - |
intron-intron | ENST00000394351 | ENST00000493089 | MITF | chr3 | 70017484 | - | FOXP1 | chr3 | 71007472 | - |
intron-intron | ENST00000394351 | ENST00000484350 | MITF | chr3 | 70017484 | - | FOXP1 | chr3 | 71007472 | - |
intron-intron | ENST00000394351 | ENST00000318779 | MITF | chr3 | 70017484 | - | FOXP1 | chr3 | 71007472 | - |
intron-intron | ENST00000394351 | ENST00000491238 | MITF | chr3 | 70017484 | - | FOXP1 | chr3 | 71007472 | - |
intron-intron | ENST00000394351 | ENST00000498215 | MITF | chr3 | 70017484 | - | FOXP1 | chr3 | 71007472 | - |
intron-intron | ENST00000394351 | ENST00000468577 | MITF | chr3 | 70017484 | - | FOXP1 | chr3 | 71007472 | - |
intron-intron | ENST00000394351 | ENST00000472382 | MITF | chr3 | 70017484 | - | FOXP1 | chr3 | 71007472 | - |
intron-3UTR | ENST00000531774 | ENST00000318789 | MITF | chr3 | 70017484 | - | FOXP1 | chr3 | 71007472 | - |
intron-3UTR | ENST00000531774 | ENST00000475937 | MITF | chr3 | 70017484 | - | FOXP1 | chr3 | 71007472 | - |
intron-intron | ENST00000531774 | ENST00000493089 | MITF | chr3 | 70017484 | - | FOXP1 | chr3 | 71007472 | - |
intron-intron | ENST00000531774 | ENST00000484350 | MITF | chr3 | 70017484 | - | FOXP1 | chr3 | 71007472 | - |
intron-intron | ENST00000531774 | ENST00000318779 | MITF | chr3 | 70017484 | - | FOXP1 | chr3 | 71007472 | - |
intron-intron | ENST00000531774 | ENST00000491238 | MITF | chr3 | 70017484 | - | FOXP1 | chr3 | 71007472 | - |
intron-intron | ENST00000531774 | ENST00000498215 | MITF | chr3 | 70017484 | - | FOXP1 | chr3 | 71007472 | - |
intron-intron | ENST00000531774 | ENST00000468577 | MITF | chr3 | 70017484 | - | FOXP1 | chr3 | 71007472 | - |
intron-intron | ENST00000531774 | ENST00000472382 | MITF | chr3 | 70017484 | - | FOXP1 | chr3 | 71007472 | - |
intron-3UTR | ENST00000394348 | ENST00000318789 | MITF | chr3 | 70017484 | - | FOXP1 | chr3 | 71007472 | - |
intron-3UTR | ENST00000394348 | ENST00000475937 | MITF | chr3 | 70017484 | - | FOXP1 | chr3 | 71007472 | - |
intron-intron | ENST00000394348 | ENST00000493089 | MITF | chr3 | 70017484 | - | FOXP1 | chr3 | 71007472 | - |
intron-intron | ENST00000394348 | ENST00000484350 | MITF | chr3 | 70017484 | - | FOXP1 | chr3 | 71007472 | - |
intron-intron | ENST00000394348 | ENST00000318779 | MITF | chr3 | 70017484 | - | FOXP1 | chr3 | 71007472 | - |
intron-intron | ENST00000394348 | ENST00000491238 | MITF | chr3 | 70017484 | - | FOXP1 | chr3 | 71007472 | - |
intron-intron | ENST00000394348 | ENST00000498215 | MITF | chr3 | 70017484 | - | FOXP1 | chr3 | 71007472 | - |
intron-intron | ENST00000394348 | ENST00000468577 | MITF | chr3 | 70017484 | - | FOXP1 | chr3 | 71007472 | - |
intron-intron | ENST00000394348 | ENST00000472382 | MITF | chr3 | 70017484 | - | FOXP1 | chr3 | 71007472 | - |
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 |
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Fusion Genomic Features for MITF-FOXP1 |
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. |
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Fusion Protein Features for MITF-FOXP1 |
Go to FGviewer for the breakpoints of :-: - FGviewer provides the online visualization of the retention search of the protein functional features across DNA, RNA, protein, and pathological levels. |
Main function of each fusion partner protein. (from UniProt) |
Hgene | Tgene |
MITF | FOXP1 |
FUNCTION: Transcription factor that regulates the expression of genes with essential roles in cell differentiation, proliferation and survival. Binds to M-boxes (5'-TCATGTG-3') and symmetrical DNA sequences (E-boxes) (5'-CACGTG-3') found in the promoters of target genes, such as BCL2 and tyrosinase (TYR). Plays an important role in melanocyte development by regulating the expression of tyrosinase (TYR) and tyrosinase-related protein 1 (TYRP1). Plays a critical role in the differentiation of various cell types, such as neural crest-derived melanocytes, mast cells, osteoclasts and optic cup-derived retinal pigment epithelium. {ECO:0000269|PubMed:10587587, ECO:0000269|PubMed:22647378, ECO:0000269|PubMed:27889061, ECO:0000269|PubMed:9647758}. | FUNCTION: Transcriptional repressor (PubMed:18347093, PubMed:26647308). Can act with CTBP1 to synergistically repress transcription but CTPBP1 is not essential (By similarity). Plays an important role in the specification and differentiation of lung epithelium. Acts cooperatively with FOXP4 to regulate lung secretory epithelial cell fate and regeneration by restricting the goblet cell lineage program; the function may involve regulation of AGR2. Essential transcriptional regulator of B-cell development. Involved in regulation of cardiac muscle cell proliferation. Involved in the columnar organization of spinal motor neurons. Promotes the formation of the lateral motor neuron column (LMC) and the preganglionic motor column (PGC) and is required for respective appropriate motor axon projections. The segment-appropriate generation of spinal chord motor columns requires cooperation with other Hox proteins. Can regulate PITX3 promoter activity; may promote midbrain identity in embryonic stem cell-derived dopamine neurons by regulating PITX3. Negatively regulates the differentiation of T follicular helper cells T(FH)s. Involved in maintenance of hair follicle stem cell quiescence; the function probably involves regulation of FGF18 (By similarity). Represses transcription of various pro-apoptotic genes and cooperates with NF-kappa B-signaling in promoting B-cell expansion by inhibition of caspase-dependent apoptosis (PubMed:25267198). Binds to CSF1R promoter elements and is involved in regulation of monocyte differentiation and macrophage functions; repression of CSF1R in monocytes seems to involve NCOR2 as corepressor (PubMed:15286807, PubMed:18799727, PubMed:18347093). Involved in endothelial cell proliferation, tube formation and migration indicative for a role in angiogenesis; the role in neovascularization seems to implicate suppression of SEMA5B (PubMed:24023716). Can negatively regulate androgen receptor signaling (PubMed:18640093). Acts as a transcriptional activator of the FBXL7 promoter; this activity is regulated by AURKA (PubMed:28218735). {ECO:0000250|UniProtKB:P58462, ECO:0000269|PubMed:15286807, ECO:0000269|PubMed:18640093, ECO:0000269|PubMed:18799727, ECO:0000269|PubMed:24023716, ECO:0000269|PubMed:25267198, ECO:0000269|PubMed:26647308, ECO:0000269|PubMed:28218735, ECO:0000305|PubMed:18347093, ECO:0000305|PubMed:24023716}.; FUNCTION: [Isoform 8]: Involved in transcriptional regulation in embryonic stem cells (ESCs). Stimulates expression of transcription factors that are required for pluripotency and decreases expression of differentiation-associated genes. Has distinct DNA-binding specifities as compared to the canonical form and preferentially binds DNA with the sequence 5'-CGATACAA-3' (or closely related sequences) (PubMed:21924763). Promotes ESC self-renewal and pluripotency (By similarity). {ECO:0000250|UniProtKB:P58462, ECO:0000269|PubMed:21924763}. |
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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Fusion Gene Sequence for MITF-FOXP1 |
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. |
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Fusion Gene PPI Analysis for MITF-FOXP1 |
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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Related Drugs for MITF-FOXP1 |
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 |
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Related Diseases for MITF-FOXP1 |
Diseases associated with fusion partners. (DisGeNet 4.0) |
Partner | Gene | Disease ID | Disease name | # pubmeds | Source |
Hgene | MITF | C2700265 | Waardenburg Syndrome Type 2 | 11 | CLINGEN;CTD_human;ORPHANET |
Hgene | MITF | C1860339 | WAARDENBURG SYNDROME, TYPE IIA | 5 | CTD_human;GENOMICS_ENGLAND;UNIPROT |
Hgene | MITF | C3152204 | MELANOMA, CUTANEOUS MALIGNANT, SUSCEPTIBILITY TO, 8 | 4 | CTD_human;GENOMICS_ENGLAND;ORPHANET;UNIPROT |
Hgene | MITF | C4310625 | COLOBOMA, OSTEOPETROSIS, MICROPHTHALMIA, MACROCEPHALY, ALBINISM, AND DEAFNESS | 3 | CTD_human;GENOMICS_ENGLAND;UNIPROT |
Hgene | MITF | C0391816 | Tietz syndrome | 2 | CTD_human;GENOMICS_ENGLAND;ORPHANET;UNIPROT |
Hgene | MITF | C1863198 | ALBINISM, OCULAR, WITH SENSORINEURAL DEAFNESS (disorder) | 2 | GENOMICS_ENGLAND;ORPHANET |
Hgene | MITF | C3266898 | Waardenburg Syndrome | 2 | GENOMICS_ENGLAND;ORPHANET |
Hgene | MITF | C0007134 | Renal Cell Carcinoma | 1 | CTD_human |
Hgene | MITF | C0007621 | Neoplastic Cell Transformation | 1 | CTD_human |
Hgene | MITF | C0011052 | Prelingual Deafness | 1 | CTD_human |
Hgene | MITF | C0011053 | Deafness | 1 | CTD_human |
Hgene | MITF | C0022283 | Incontinentia Pigmenti Achromians | 1 | CTD_human |
Hgene | MITF | C0025202 | melanoma | 1 | CGI;CTD_human |
Hgene | MITF | C0036305 | Schamberg Disease | 1 | CTD_human |
Hgene | MITF | C0078918 | Albinism, Oculocutaneous | 1 | CTD_human |
Hgene | MITF | C0078921 | Albinism, Tyrosinase-Negative | 1 | CTD_human |
Hgene | MITF | C0078922 | Albinism, Tyrosinase-Positive | 1 | CTD_human |
Hgene | MITF | C0078923 | Albinism, Yellow-Mutant | 1 | CTD_human |
Hgene | MITF | C0086395 | Hearing Loss, Extreme | 1 | CTD_human |
Hgene | MITF | C0151779 | Cutaneous Melanoma | 1 | CGI;CTD_human |
Hgene | MITF | C0279702 | Conventional (Clear Cell) Renal Cell Carcinoma | 1 | CTD_human |
Hgene | MITF | C0549567 | Pigmentation Disorders | 1 | CTD_human |
Hgene | MITF | C0581883 | Complete Hearing Loss | 1 | CTD_human |
Hgene | MITF | C0751068 | Deafness, Acquired | 1 | CTD_human |
Hgene | MITF | C1266042 | Chromophobe Renal Cell Carcinoma | 1 | CTD_human |
Hgene | MITF | C1266043 | Sarcomatoid Renal Cell Carcinoma | 1 | CTD_human |
Hgene | MITF | C1266044 | Collecting Duct Carcinoma of the Kidney | 1 | CTD_human |
Hgene | MITF | C1306837 | Papillary Renal Cell Carcinoma | 1 | CTD_human;ORPHANET |
Hgene | MITF | C1708353 | Hereditary Paraganglioma-Pheochromocytoma Syndrome | 1 | CLINGEN |
Hgene | MITF | C1848519 | WAARDENBURG SYNDROME, TYPE 4A | 1 | ORPHANET |
Hgene | MITF | C2314896 | Familial Atypical Mole Melanoma Syndrome | 1 | ORPHANET |
Hgene | MITF | C2700405 | WAARDENBURG SYNDROME, TYPE IIE | 1 | CTD_human |
Hgene | MITF | C3665473 | Bilateral Deafness | 1 | CTD_human |
Hgene | MITF | C4082305 | Deaf Mutism | 1 | CTD_human |
Hgene | MITF | C4518333 | Clear cell papillary renal cell carcinoma | 1 | ORPHANET |
Hgene | MITF | C4750999 | Ocular albinism with congenital sensorineural deafness | 1 | GENOMICS_ENGLAND |
Tgene | FOXP1 | C3150923 | MENTAL RETARDATION WITH LANGUAGE IMPAIRMENT AND AUTISTIC FEATURES | 16 | CLINGEN;GENOMICS_ENGLAND |
Tgene | FOXP1 | C4013764 | MENTAL RETARDATION WITH LANGUAGE IMPAIRMENT AND WITH OR WITHOUT AUTISTIC FEATURES | 3 | CTD_human;GENOMICS_ENGLAND;ORPHANET;UNIPROT |
Tgene | FOXP1 | C0006413 | Burkitt Lymphoma | 1 | ORPHANET |
Tgene | FOXP1 | C0024232 | Lymphatic Metastasis | 1 | CTD_human |
Tgene | FOXP1 | C0027626 | Neoplasm Invasiveness | 1 | CTD_human |
Tgene | FOXP1 | C0030297 | Pancreatic Neoplasm | 1 | CTD_human |
Tgene | FOXP1 | C0042900 | Vitiligo | 1 | CTD_human |
Tgene | FOXP1 | C0087031 | Juvenile-Onset Still Disease | 1 | CTD_human |
Tgene | FOXP1 | C0242647 | Mucosa-Associated Lymphoid Tissue Lymphoma | 1 | ORPHANET |
Tgene | FOXP1 | C0279628 | Adenocarcinoma Of Esophagus | 1 | CTD_human |
Tgene | FOXP1 | C0346647 | Malignant neoplasm of pancreas | 1 | CTD_human |
Tgene | FOXP1 | C1292769 | Precursor B-cell lymphoblastic leukemia | 1 | ORPHANET |
Tgene | FOXP1 | C1510586 | Autism Spectrum Disorders | 1 | CTD_human |
Tgene | FOXP1 | C1535926 | Neurodevelopmental Disorders | 1 | CTD_human |
Tgene | FOXP1 | C3495559 | Juvenile arthritis | 1 | CTD_human |
Tgene | FOXP1 | C3714758 | Juvenile psoriatic arthritis | 1 | CTD_human |
Tgene | FOXP1 | C4552091 | Polyarthritis, Juvenile, Rheumatoid Factor Negative | 1 | CTD_human |
Tgene | FOXP1 | C4704862 | Polyarthritis, Juvenile, Rheumatoid Factor Positive | 1 | CTD_human |