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Fusion Protein:MITF-ARL6IP5 |
Fusion Protein Summary |
 Fusion gene summary |
| Fusion partner gene information | Fusion gene name: MITF-ARL6IP5 | FusionPDB ID: 53980 | FusionGDB2.0 ID: 53980 | Hgene | Tgene | Gene symbol | MITF | ARL6IP5 | Gene ID | 4286 | 10550 |
| Gene name | melanocyte inducing transcription factor | ADP ribosylation factor like GTPase 6 interacting protein 5 | |
| Synonyms | CMM8|COMMAD|MI|WS2|WS2A|bHLHe32 | DERP11|GTRAP3-18|HSPC127|JWA|PRAF3|Yip6b|addicsin|hp22|jmx | |
| Cytomap | 3p13 | 3p14.1 | |
| 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 | PRA1 family protein 3ADP-ribosylation factor GTPase 6 interacting protein 5ADP-ribosylation factor-like 6 interacting protein 5ADP-ribosylation factor-like protein 6-interacting protein 5ADP-ribosylation-like factor 6 interacting protein 5ARL-6-inter | |
| Modification date | 20200329 | 20200313 | |
| UniProtAcc | O75030 | O75915 | |
| Ensembl transtripts involved in fusion gene | ENST ids | ENST00000352241, ENST00000448226, ENST00000314557, ENST00000314589, ENST00000328528, ENST00000394348, ENST00000394351, ENST00000394355, ENST00000472437, ENST00000531774, | ENST00000273258, ENST00000478935, |
| Fusion gene scores for assessment (based on all fusion genes of FusionGDB 2.0) | * DoF score | 11 X 6 X 6=396 | 8 X 7 X 3=168 |
| # samples | 9 | 8 | |
| ** MAII score | log2(9/396*10)=-2.13750352374993 possibly effective Gene in Pan-Cancer Fusion Genes (peGinPCFGs). DoF>8 and MAII<0 | log2(8/168*10)=-1.0703893278914 possibly effective Gene in Pan-Cancer Fusion Genes (peGinPCFGs). DoF>8 and MAII<0 | |
| Context (manual curation of fusion genes in FusionPDB) | PubMed: MITF [Title/Abstract] AND ARL6IP5 [Title/Abstract] AND fusion [Title/Abstract] | ||
| Most frequent breakpoint (based on all fusion genes of FusionGDB 2.0) | MITF(69788852)-ARL6IP5(69150990), # samples:2 | ||
| Anticipated loss of major functional domain due to fusion event. | MITF-ARL6IP5 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. MITF-ARL6IP5 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. MITF-ARL6IP5 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. MITF-ARL6IP5 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) |
| 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 | ARL6IP5 | GO:0008631 | intrinsic apoptotic signaling pathway in response to oxidative stress | 18387645 |
| 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. |
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| Fusion gene breakpoints across ARL6IP5 (3'-gene) * Click on the image to open the UCSC genome browser with custom track showing this image in a new window. |
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Fusion Gene Sample Information |
| Fusion gene information from FusionGDB2.0. |
| 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 | PRAD | TCGA-HC-8216-01A | MITF | chr3 | 69788852 | + | ARL6IP5 | chr3 | 69150990 | + |
| ChimerDB4 | PRAD | TCGA-HC-8216 | MITF | chr3 | 69788852 | + | ARL6IP5 | chr3 | 69150990 | + |
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Fusion ORF Analysis |
| Fusion information from ORFfinder translation from full-length transcript sequence from FusionPDB. |
| 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) |
| ENST00000352241 | MITF | chr3 | 69788852 | + | ENST00000273258 | ARL6IP5 | chr3 | 69150990 | + | 2088 | 267 | 58 | 657 | 199 |
| ENST00000352241 | MITF | chr3 | 69788852 | + | ENST00000478935 | ARL6IP5 | chr3 | 69150990 | + | 1513 | 267 | 58 | 357 | 99 |
| ENST00000448226 | MITF | chr3 | 69788852 | + | ENST00000273258 | ARL6IP5 | chr3 | 69150990 | + | 2052 | 231 | 22 | 621 | 199 |
| ENST00000448226 | MITF | chr3 | 69788852 | + | ENST00000478935 | ARL6IP5 | chr3 | 69150990 | + | 1477 | 231 | 22 | 321 | 99 |
| 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 |
| ENST00000352241 | ENST00000273258 | MITF | chr3 | 69788852 | + | ARL6IP5 | chr3 | 69150990 | + | 0.002338808 | 0.99766123 |
| ENST00000352241 | ENST00000478935 | MITF | chr3 | 69788852 | + | ARL6IP5 | chr3 | 69150990 | + | 0.21400735 | 0.7859927 |
| ENST00000448226 | ENST00000273258 | MITF | chr3 | 69788852 | + | ARL6IP5 | chr3 | 69150990 | + | 0.002349186 | 0.9976508 |
| ENST00000448226 | ENST00000478935 | MITF | chr3 | 69788852 | + | ARL6IP5 | chr3 | 69150990 | + | 0.27479237 | 0.7252076 |
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Fusion Amino Acid Sequences |
| For individual full-length fusion transcript sequence from FusionPDB, we ran ORFfinder and chose the longest ORF among the all predicted ones. |
| >FusionGDB ID_FusionGDB isoform ID_FGname_Hgene_Hchr_Hbp_Henst_Tgene_Tchr_Tbp_Tenst_length(fusion AA) seq_BP >53980_53980_1_MITF-ARL6IP5_MITF_chr3_69788852_ENST00000352241_ARL6IP5_chr3_69150990_ENST00000273258_length(amino acids)=199AA_BP=69 MRRGARLGGPRPSYLPSAPGLCSHFPAVEGREAGAMQSESGIVPDFEVGEEFHEEPKTYYELKSQPLKSRFLSPFNMILGGIVVVLVFTG FVWAAHNKDVLRRMKKRYPTTFVMVVMLASYFLISMFGGVMVFVFGITFPLLLMFIHASLRLRNLKNKLENKMEGIGLKRTPMGIVLDAL -------------------------------------------------------------- >53980_53980_2_MITF-ARL6IP5_MITF_chr3_69788852_ENST00000352241_ARL6IP5_chr3_69150990_ENST00000478935_length(amino acids)=99AA_BP=69 MRRGARLGGPRPSYLPSAPGLCSHFPAVEGREAGAMQSESGIVPDFEVGEEFHEEPKTYYELKSQPLKSRFLSPFNPPIVSEVSRVFMKS -------------------------------------------------------------- >53980_53980_3_MITF-ARL6IP5_MITF_chr3_69788852_ENST00000448226_ARL6IP5_chr3_69150990_ENST00000273258_length(amino acids)=199AA_BP=69 MRRGARLGGPRPSYLPSAPGLCSHFPAVEGREAGAMQSESGIVPDFEVGEEFHEEPKTYYELKSQPLKSRFLSPFNMILGGIVVVLVFTG FVWAAHNKDVLRRMKKRYPTTFVMVVMLASYFLISMFGGVMVFVFGITFPLLLMFIHASLRLRNLKNKLENKMEGIGLKRTPMGIVLDAL -------------------------------------------------------------- >53980_53980_4_MITF-ARL6IP5_MITF_chr3_69788852_ENST00000448226_ARL6IP5_chr3_69150990_ENST00000478935_length(amino acids)=99AA_BP=69 MRRGARLGGPRPSYLPSAPGLCSHFPAVEGREAGAMQSESGIVPDFEVGEEFHEEPKTYYELKSQPLKSRFLSPFNPPIVSEVSRVFMKS -------------------------------------------------------------- |
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Fusion Protein Functional Features |
| Four levels of functional features of fusion genes Go to FGviewer search page for the most frequent breakpoint (https://ccsmweb.uth.edu/FGviewer/chr3:69788852/chr3:69150990) - 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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| Main function of each fusion partner protein. (from UniProt) |
| Hgene | Tgene |
| MITF | ARL6IP5 |
| 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: Regulates intracellular concentrations of taurine and glutamate. Negatively modulates SLC1A1/EAAC1 glutamate transport activity by decreasing its affinity for glutamate in a PKC activity-dependent manner. Plays a role in the retention of SLC1A1/EAAC1 in the endoplasmic reticulum. {ECO:0000250|UniProtKB:Q8R5J9, ECO:0000250|UniProtKB:Q9ES40}. |
| 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. |
| - 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 | ARL6IP5 | chr3:69788852 | chr3:69150990 | ENST00000273258 | 0 | 3 | 103_117 | 58.666666666666664 | 189.0 | Region | Required for homodimer formation and heterodimer formation with ARL6IP1 | |
| Tgene | ARL6IP5 | chr3:69788852 | chr3:69150990 | ENST00000273258 | 0 | 3 | 136_188 | 58.666666666666664 | 189.0 | Region | Targeting to endoplasmic reticulum membrane | |
| Tgene | ARL6IP5 | chr3:69788852 | chr3:69150990 | ENST00000273258 | 0 | 3 | 78_93 | 58.666666666666664 | 189.0 | Topological domain | Cytoplasmic | |
| Tgene | ARL6IP5 | chr3:69788852 | chr3:69150990 | ENST00000273258 | 0 | 3 | 115_135 | 58.666666666666664 | 189.0 | Transmembrane | Helical | |
| Tgene | ARL6IP5 | chr3:69788852 | chr3:69150990 | ENST00000273258 | 0 | 3 | 57_77 | 58.666666666666664 | 189.0 | Transmembrane | Helical | |
| Tgene | ARL6IP5 | chr3:69788852 | chr3:69150990 | ENST00000273258 | 0 | 3 | 94_114 | 58.666666666666664 | 189.0 | Transmembrane | Helical |
| - 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 | MITF | chr3:69788852 | chr3:69150990 | ENST00000314557 | + | 1 | 9 | 355_402 | 0 | 414.0 | Coiled coil | Ontology_term=ECO:0000305 |
| Hgene | MITF | chr3:69788852 | chr3:69150990 | ENST00000314589 | + | 1 | 10 | 355_402 | 0 | 505.0 | Coiled coil | Ontology_term=ECO:0000305 |
| Hgene | MITF | chr3:69788852 | chr3:69150990 | ENST00000328528 | + | 1 | 10 | 355_402 | 0 | 520.0 | Coiled coil | Ontology_term=ECO:0000305 |
| Hgene | MITF | chr3:69788852 | chr3:69150990 | ENST00000352241 | + | 1 | 10 | 355_402 | 34.666666666666664 | 521.0 | Coiled coil | Ontology_term=ECO:0000305 |
| Hgene | MITF | chr3:69788852 | chr3:69150990 | ENST00000394351 | + | 1 | 9 | 355_402 | 0 | 420.0 | Coiled coil | Ontology_term=ECO:0000305 |
| Hgene | MITF | chr3:69788852 | chr3:69150990 | ENST00000394355 | + | 1 | 9 | 355_402 | 0.0 | 496.0 | Coiled coil | Ontology_term=ECO:0000305 |
| Hgene | MITF | chr3:69788852 | chr3:69150990 | ENST00000448226 | + | 1 | 10 | 355_402 | 34.666666666666664 | 527.0 | Coiled coil | Ontology_term=ECO:0000305 |
| Hgene | MITF | chr3:69788852 | chr3:69150990 | ENST00000472437 | + | 1 | 10 | 355_402 | 0 | 469.0 | Coiled coil | Ontology_term=ECO:0000305 |
| Hgene | MITF | chr3:69788852 | chr3:69150990 | ENST00000531774 | + | 1 | 9 | 355_402 | 0.0 | 358.0 | Coiled coil | Ontology_term=ECO:0000305 |
| Hgene | MITF | chr3:69788852 | chr3:69150990 | ENST00000314557 | + | 1 | 9 | 311_364 | 0 | 414.0 | Domain | bHLH |
| Hgene | MITF | chr3:69788852 | chr3:69150990 | ENST00000314589 | + | 1 | 10 | 311_364 | 0 | 505.0 | Domain | bHLH |
| Hgene | MITF | chr3:69788852 | chr3:69150990 | ENST00000328528 | + | 1 | 10 | 311_364 | 0 | 520.0 | Domain | bHLH |
| Hgene | MITF | chr3:69788852 | chr3:69150990 | ENST00000352241 | + | 1 | 10 | 311_364 | 34.666666666666664 | 521.0 | Domain | bHLH |
| Hgene | MITF | chr3:69788852 | chr3:69150990 | ENST00000394351 | + | 1 | 9 | 311_364 | 0 | 420.0 | Domain | bHLH |
| Hgene | MITF | chr3:69788852 | chr3:69150990 | ENST00000394355 | + | 1 | 9 | 311_364 | 0.0 | 496.0 | Domain | bHLH |
| Hgene | MITF | chr3:69788852 | chr3:69150990 | ENST00000448226 | + | 1 | 10 | 311_364 | 34.666666666666664 | 527.0 | Domain | bHLH |
| Hgene | MITF | chr3:69788852 | chr3:69150990 | ENST00000472437 | + | 1 | 10 | 311_364 | 0 | 469.0 | Domain | bHLH |
| Hgene | MITF | chr3:69788852 | chr3:69150990 | ENST00000531774 | + | 1 | 9 | 311_364 | 0.0 | 358.0 | Domain | bHLH |
| Hgene | MITF | chr3:69788852 | chr3:69150990 | ENST00000314557 | + | 1 | 9 | 224_295 | 0 | 414.0 | Region | Note=Transactivation |
| Hgene | MITF | chr3:69788852 | chr3:69150990 | ENST00000314557 | + | 1 | 9 | 374_395 | 0 | 414.0 | Region | Leucine-zipper |
| Hgene | MITF | chr3:69788852 | chr3:69150990 | ENST00000314557 | + | 1 | 9 | 401_431 | 0 | 414.0 | Region | Note=DNA binding regulation |
| Hgene | MITF | chr3:69788852 | chr3:69150990 | ENST00000314589 | + | 1 | 10 | 224_295 | 0 | 505.0 | Region | Note=Transactivation |
| Hgene | MITF | chr3:69788852 | chr3:69150990 | ENST00000314589 | + | 1 | 10 | 374_395 | 0 | 505.0 | Region | Leucine-zipper |
| Hgene | MITF | chr3:69788852 | chr3:69150990 | ENST00000314589 | + | 1 | 10 | 401_431 | 0 | 505.0 | Region | Note=DNA binding regulation |
| Hgene | MITF | chr3:69788852 | chr3:69150990 | ENST00000328528 | + | 1 | 10 | 224_295 | 0 | 520.0 | Region | Note=Transactivation |
| Hgene | MITF | chr3:69788852 | chr3:69150990 | ENST00000328528 | + | 1 | 10 | 374_395 | 0 | 520.0 | Region | Leucine-zipper |
| Hgene | MITF | chr3:69788852 | chr3:69150990 | ENST00000328528 | + | 1 | 10 | 401_431 | 0 | 520.0 | Region | Note=DNA binding regulation |
| Hgene | MITF | chr3:69788852 | chr3:69150990 | ENST00000352241 | + | 1 | 10 | 224_295 | 34.666666666666664 | 521.0 | Region | Note=Transactivation |
| Hgene | MITF | chr3:69788852 | chr3:69150990 | ENST00000352241 | + | 1 | 10 | 374_395 | 34.666666666666664 | 521.0 | Region | Leucine-zipper |
| Hgene | MITF | chr3:69788852 | chr3:69150990 | ENST00000352241 | + | 1 | 10 | 401_431 | 34.666666666666664 | 521.0 | Region | Note=DNA binding regulation |
| Hgene | MITF | chr3:69788852 | chr3:69150990 | ENST00000394351 | + | 1 | 9 | 224_295 | 0 | 420.0 | Region | Note=Transactivation |
| Hgene | MITF | chr3:69788852 | chr3:69150990 | ENST00000394351 | + | 1 | 9 | 374_395 | 0 | 420.0 | Region | Leucine-zipper |
| Hgene | MITF | chr3:69788852 | chr3:69150990 | ENST00000394351 | + | 1 | 9 | 401_431 | 0 | 420.0 | Region | Note=DNA binding regulation |
| Hgene | MITF | chr3:69788852 | chr3:69150990 | ENST00000394355 | + | 1 | 9 | 224_295 | 0.0 | 496.0 | Region | Note=Transactivation |
| Hgene | MITF | chr3:69788852 | chr3:69150990 | ENST00000394355 | + | 1 | 9 | 374_395 | 0.0 | 496.0 | Region | Leucine-zipper |
| Hgene | MITF | chr3:69788852 | chr3:69150990 | ENST00000394355 | + | 1 | 9 | 401_431 | 0.0 | 496.0 | Region | Note=DNA binding regulation |
| Hgene | MITF | chr3:69788852 | chr3:69150990 | ENST00000448226 | + | 1 | 10 | 224_295 | 34.666666666666664 | 527.0 | Region | Note=Transactivation |
| Hgene | MITF | chr3:69788852 | chr3:69150990 | ENST00000448226 | + | 1 | 10 | 374_395 | 34.666666666666664 | 527.0 | Region | Leucine-zipper |
| Hgene | MITF | chr3:69788852 | chr3:69150990 | ENST00000448226 | + | 1 | 10 | 401_431 | 34.666666666666664 | 527.0 | Region | Note=DNA binding regulation |
| Hgene | MITF | chr3:69788852 | chr3:69150990 | ENST00000472437 | + | 1 | 10 | 224_295 | 0 | 469.0 | Region | Note=Transactivation |
| Hgene | MITF | chr3:69788852 | chr3:69150990 | ENST00000472437 | + | 1 | 10 | 374_395 | 0 | 469.0 | Region | Leucine-zipper |
| Hgene | MITF | chr3:69788852 | chr3:69150990 | ENST00000472437 | + | 1 | 10 | 401_431 | 0 | 469.0 | Region | Note=DNA binding regulation |
| Hgene | MITF | chr3:69788852 | chr3:69150990 | ENST00000531774 | + | 1 | 9 | 224_295 | 0.0 | 358.0 | Region | Note=Transactivation |
| Hgene | MITF | chr3:69788852 | chr3:69150990 | ENST00000531774 | + | 1 | 9 | 374_395 | 0.0 | 358.0 | Region | Leucine-zipper |
| Hgene | MITF | chr3:69788852 | chr3:69150990 | ENST00000531774 | + | 1 | 9 | 401_431 | 0.0 | 358.0 | Region | Note=DNA binding regulation |
| Tgene | ARL6IP5 | chr3:69788852 | chr3:69150990 | ENST00000273258 | 0 | 3 | 1_35 | 58.666666666666664 | 189.0 | Topological domain | Cytoplasmic | |
| Tgene | ARL6IP5 | chr3:69788852 | chr3:69150990 | ENST00000273258 | 0 | 3 | 36_56 | 58.666666666666664 | 189.0 | Transmembrane | Helical |
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Fusion Protein Structures |
| PDB and CIF files of the predicted fusion proteins * Here we show the 3D structure of the fusion proteins using Mol*. AlphaFold produces a per-residue confidence score (pLDDT) between 0 and 100. Model confidence is shown from the pLDDT values per residue. pLDDT corresponds to the model’s prediction of its score on the local Distance Difference Test. It is a measure of local accuracy (from AlphfaFold website). To color code individual residues, we transformed individual PDB files into CIF format. |
| Fusion protein PDB link (fusion AA seq ID in FusionPDB) | Hgene | Hchr | Hbp | Hstrand | Tgene | Tchr | Tbp | Tstrand | AA seq | Len(AA seq) |
| PDB file >>>264_MITF_69788852_ARL6IP5_69150990_ranked_0.pdb | MITF | 69788852 | 69788852 | ENST00000478935 | ARL6IP5 | chr3 | 69150990 | + | MRRGARLGGPRPSYLPSAPGLCSHFPAVEGREAGAMQSESGIVPDFEVGEEFHEEPKTYYELKSQPLKSRFLSPFNMILGGIVVVLVFTG FVWAAHNKDVLRRMKKRYPTTFVMVVMLASYFLISMFGGVMVFVFGITFPLLLMFIHASLRLRNLKNKLENKMEGIGLKRTPMGIVLDAL | 199 |
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pLDDT score distribution |
| pLDDT score distribution of the predicted wild-type structures of two partner proteins from AlphaFold2 * AlphaFold produces a per-residue confidence score (pLDDT) between 0 and 100. |
MITF_pLDDT.png  |
ARL6IP5_pLDDT.png  |
| pLDDT score distribution of the predicted fusion protein structures from AlphaFold2 * AlphaFold produces a per-residue confidence score (pLDDT) between 0 and 100. |
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Ramachandran Plot of Fusion Protein Structure |
| Ramachandran plot of the torsional angles - phi (φ)and psi (ψ) - of the residues (amino acids) contained in this fusion protein peptide. |
| Fusion AA seq ID in FusionPDB and their Ramachandran plots |
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Fusion Protein-Protein Interaction |
| 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 from validated records (BIOGRID-3.4.160) |
| Gene | PPI interactors |
| Protein-protein interactors based on sequence similarity (STRING) |
| Gene | STRING network |
| MITF |  |
| ARL6IP5 |
| - Retained interactions in fusion protein (protein functional feature from UniProt). |
| Partner | Gene | Hbp | Tbp | ENST | Strand | BPexon | TotalExon | Protein feature loci | *BPloci | TotalLen | Still interaction with |
| - Lost interactions due to fusion (protein functional feature from UniProt). |
| Partner | Gene | Hbp | Tbp | ENST | Strand | BPexon | TotalExon | Protein feature loci | *BPloci | TotalLen | Interaction lost with |
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Related Drugs to MITF-ARL6IP5 |
| Drugs used for this fusion-positive patient. (Manual curation of PubMed, 04-30-2022 + MyCancerGenome) |
| Hgene | Tgene | Drug | Source | PMID |
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Related Diseases to MITF-ARL6IP5 |
| Diseases that have this fusion gene. (Manual curation of PubMed, 04-30-2022 + MyCancerGenome) |
| Hgene | Tgene | Disease | Source | PMID |
| 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 |
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