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Fusion gene ID: 23175 |
FusionGeneSummary for MYO5B_PPP1R8 |
 Fusion gene summary |
| Fusion gene information | Fusion gene name: MYO5B_PPP1R8 | Fusion gene ID: 23175 | Hgene | Tgene | Gene symbol | MYO5B | PPP1R8 | Gene ID | 4645 | 5511 |
| Gene name | myosin VB | protein phosphatase 1 regulatory subunit 8 | |
| Synonyms | - | ARD-1|ARD1|NIPP-1|NIPP1|PRO2047 | |
| Cytomap | 18q21.1 | 1p35.3 | |
| Type of gene | protein-coding | protein-coding | |
| Description | unconventional myosin-VbMYO5B variant proteinmyosin-Vb | nuclear inhibitor of protein phosphatase 1RNase Eactivator of RNA decaynuclear inhibitor of protein phosphatase-1 alphanuclear inhibitor of protein phosphatase-1 betanuclear subunit of PP-1protein phosphatase 1, regulatory (inhibitor) subunit 8 | |
| Modification date | 20180519 | 20180523 | |
| UniProtAcc | Q9ULV0 | Q12972 | |
| Ensembl transtripts involved in fusion gene | ENST00000285039, ENST00000324581, ENST00000592688, ENST00000587895, | ENST00000311772, ENST00000236412, ENST00000373931, ENST00000486634, | |
| Fusion gene scores | * DoF score | 8 X 4 X 6=192 | 2 X 2 X 1=4 |
| # samples | 8 | 2 | |
| ** MAII score | log2(8/192*10)=-1.26303440583379 possibly effective Gene in Pan-Cancer Fusion Genes (peGinPCFGs). DoF>8 and MAII<0 | log2(2/4*10)=2.32192809488736 | |
| Context | PubMed: MYO5B [Title/Abstract] AND PPP1R8 [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 |
| 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 | M78404 | MYO5B | chr18 | 47587355 | + | PPP1R8 | chr1 | 28158085 | + |
| * 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 |
| intron-intron | ENST00000285039 | ENST00000311772 | MYO5B | chr18 | 47587355 | + | PPP1R8 | chr1 | 28158085 | + |
| intron-intron | ENST00000285039 | ENST00000236412 | MYO5B | chr18 | 47587355 | + | PPP1R8 | chr1 | 28158085 | + |
| intron-intron | ENST00000285039 | ENST00000373931 | MYO5B | chr18 | 47587355 | + | PPP1R8 | chr1 | 28158085 | + |
| intron-intron | ENST00000285039 | ENST00000486634 | MYO5B | chr18 | 47587355 | + | PPP1R8 | chr1 | 28158085 | + |
| intron-intron | ENST00000324581 | ENST00000311772 | MYO5B | chr18 | 47587355 | + | PPP1R8 | chr1 | 28158085 | + |
| intron-intron | ENST00000324581 | ENST00000236412 | MYO5B | chr18 | 47587355 | + | PPP1R8 | chr1 | 28158085 | + |
| intron-intron | ENST00000324581 | ENST00000373931 | MYO5B | chr18 | 47587355 | + | PPP1R8 | chr1 | 28158085 | + |
| intron-intron | ENST00000324581 | ENST00000486634 | MYO5B | chr18 | 47587355 | + | PPP1R8 | chr1 | 28158085 | + |
| intron-intron | ENST00000592688 | ENST00000311772 | MYO5B | chr18 | 47587355 | + | PPP1R8 | chr1 | 28158085 | + |
| intron-intron | ENST00000592688 | ENST00000236412 | MYO5B | chr18 | 47587355 | + | PPP1R8 | chr1 | 28158085 | + |
| intron-intron | ENST00000592688 | ENST00000373931 | MYO5B | chr18 | 47587355 | + | PPP1R8 | chr1 | 28158085 | + |
| intron-intron | ENST00000592688 | ENST00000486634 | MYO5B | chr18 | 47587355 | + | PPP1R8 | chr1 | 28158085 | + |
| intron-intron | ENST00000587895 | ENST00000311772 | MYO5B | chr18 | 47587355 | + | PPP1R8 | chr1 | 28158085 | + |
| intron-intron | ENST00000587895 | ENST00000236412 | MYO5B | chr18 | 47587355 | + | PPP1R8 | chr1 | 28158085 | + |
| intron-intron | ENST00000587895 | ENST00000373931 | MYO5B | chr18 | 47587355 | + | PPP1R8 | chr1 | 28158085 | + |
| intron-intron | ENST00000587895 | ENST00000486634 | MYO5B | chr18 | 47587355 | + | PPP1R8 | chr1 | 28158085 | + |
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FusionProtFeatures for MYO5B_PPP1R8 |
| Main function of each fusion partner protein. (from UniProt) |
| Hgene | Tgene |
| MYO5B | PPP1R8 |
| May be involved in vesicular trafficking via itsassociation with the CART complex. The CART complex is necessaryfor efficient transferrin receptor recycling but not for EGFRdegradation. Required in a complex with RAB11A and RAB11FIP2 forthe transport of NPC1L1 to the plasma membrane. Together withRAB11A participates in CFTR trafficking to the plasma membrane andTF (transferrin) recycling in nonpolarized cells. Together withRAB11A and RAB8A participates in epithelial cell polarization.Together with RAB25 regulates transcytosis.{ECO:0000269|PubMed:21206382, ECO:0000269|PubMed:21282656}. | Inhibitor subunit of the major nuclear proteinphosphatase-1 (PP-1). It has RNA-binding activity but does notcleave RNA and may target PP-1 to RNA-associated substrates. Mayalso be involved in pre-mRNA splicing. Binds DNA and might act asa transcriptional repressor. Seems to be required for cellproliferation. Isoform Gamma is a site-specific single-strandendoribonuclease that cleaves single strand RNA 3' to purines andpyrimidines in A+U-rich regions. It generates 5'-phosphate terminiat the site of cleavage. This isoform does not inhibit PP-1. Maybe implicated in mRNA splicing. |
| 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 MYO5B_PPP1R8 |
| 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. |
| * Fusion transcript sequences (only coding sequence (CDS) region). |
| * Fusion transcript sequences (Full-length transcript). |
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FusionGenePPI for MYO5B_PPP1R8 |
| 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 MYO5B_PPP1R8 |
| 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 |
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RelatedDiseases for MYO5B_PPP1R8 |
| Diseases associated with fusion partners. (DisGeNet 4.0) |
| Partner | Gene | Disease ID | Disease name | # pubmeds | Source |
| Hgene | MYO5B | C0341306 | Microvillus inclusion disease | 5 | CTD_human;ORPHANET;UNIPROT |
| Hgene | MYO5B | C0011991 | Diarrhea | 1 | CTD_human |
| Hgene | MYO5B | C0021831 | Intestinal Diseases | 1 | CTD_human |
| Hgene | MYO5B | C0023903 | Liver neoplasms | 1 | CTD_human |
| Hgene | MYO5B | C0025521 | Inborn Errors of Metabolism | 1 | CTD_human |
| Hgene | MYO5B | C0036341 | Schizophrenia | 1 | PSYGENET |
| Hgene | MYO5B | C0236733 | Amphetamine-Related Disorders | 1 | CTD_human |
| Hgene | MYO5B | C0525045 | Mood Disorders | 1 | PSYGENET |
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