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Fusion gene ID: 27775 |
FusionGeneSummary for PMEL_DPCD |
 Fusion gene summary |
| Fusion gene information | Fusion gene name: PMEL_DPCD | Fusion gene ID: 27775 | Hgene | Tgene | Gene symbol | PMEL | DPCD | Gene ID | 6490 | 25911 |
| Gene name | premelanosome protein | deleted in primary ciliary dyskinesia homolog (mouse) | |
| Synonyms | D12S53E|ME20|ME20-M|ME20M|P1|P100|PMEL17|SI|SIL|SILV|gp100 | - | |
| Cytomap | 12q13.2 | 10q24.32 | |
| Type of gene | protein-coding | protein-coding | |
| Description | melanocyte protein PMELmelanocyte protein Pmel 17melanocyte protein mel 17melanocytes lineage-specific antigen GP100melanoma-associated ME20 antigenmelanosomal matrix protein17silver locus protein homologsilver, mouse, homolog of | protein DPCDRP11-529I10.4deleted in a mouse model of primary ciliary dyskinesia | |
| Modification date | 20180523 | 20180522 | |
| UniProtAcc | P40967 | Q9BVM2 | |
| Ensembl transtripts involved in fusion gene | ENST00000449260, ENST00000552882, ENST00000550464, ENST00000548747, ENST00000536427, ENST00000539511, ENST00000360714, ENST00000548493, ENST00000550447, ENST00000548689, | ENST00000470165, ENST00000416979, ENST00000370151, ENST00000370147, ENST00000370148, | |
| Fusion gene scores | * DoF score | 1 X 1 X 1=1 | 2 X 2 X 2=8 |
| # samples | 1 | 2 | |
| ** MAII score | log2(1/1*10)=3.32192809488736 | log2(2/8*10)=1.32192809488736 | |
| Context | PubMed: PMEL [Title/Abstract] AND DPCD [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 |
| Hgene | PMEL | GO:0032438 | melanosome organization | 11694580 |
| 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 | EL948109 | PMEL | chr12 | 56359718 | - | DPCD | chr10 | 103340175 | - |
| * 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 |
| 5CDS-intron | ENST00000449260 | ENST00000470165 | PMEL | chr12 | 56359718 | - | DPCD | chr10 | 103340175 | - |
| 5CDS-intron | ENST00000449260 | ENST00000416979 | PMEL | chr12 | 56359718 | - | DPCD | chr10 | 103340175 | - |
| 5CDS-intron | ENST00000449260 | ENST00000370151 | PMEL | chr12 | 56359718 | - | DPCD | chr10 | 103340175 | - |
| 5CDS-intron | ENST00000449260 | ENST00000370147 | PMEL | chr12 | 56359718 | - | DPCD | chr10 | 103340175 | - |
| 5CDS-intron | ENST00000449260 | ENST00000370148 | PMEL | chr12 | 56359718 | - | DPCD | chr10 | 103340175 | - |
| 5CDS-intron | ENST00000552882 | ENST00000470165 | PMEL | chr12 | 56359718 | - | DPCD | chr10 | 103340175 | - |
| 5CDS-intron | ENST00000552882 | ENST00000416979 | PMEL | chr12 | 56359718 | - | DPCD | chr10 | 103340175 | - |
| 5CDS-intron | ENST00000552882 | ENST00000370151 | PMEL | chr12 | 56359718 | - | DPCD | chr10 | 103340175 | - |
| 5CDS-intron | ENST00000552882 | ENST00000370147 | PMEL | chr12 | 56359718 | - | DPCD | chr10 | 103340175 | - |
| 5CDS-intron | ENST00000552882 | ENST00000370148 | PMEL | chr12 | 56359718 | - | DPCD | chr10 | 103340175 | - |
| 5CDS-intron | ENST00000550464 | ENST00000470165 | PMEL | chr12 | 56359718 | - | DPCD | chr10 | 103340175 | - |
| 5CDS-intron | ENST00000550464 | ENST00000416979 | PMEL | chr12 | 56359718 | - | DPCD | chr10 | 103340175 | - |
| 5CDS-intron | ENST00000550464 | ENST00000370151 | PMEL | chr12 | 56359718 | - | DPCD | chr10 | 103340175 | - |
| 5CDS-intron | ENST00000550464 | ENST00000370147 | PMEL | chr12 | 56359718 | - | DPCD | chr10 | 103340175 | - |
| 5CDS-intron | ENST00000550464 | ENST00000370148 | PMEL | chr12 | 56359718 | - | DPCD | chr10 | 103340175 | - |
| 5CDS-intron | ENST00000548747 | ENST00000470165 | PMEL | chr12 | 56359718 | - | DPCD | chr10 | 103340175 | - |
| 5CDS-intron | ENST00000548747 | ENST00000416979 | PMEL | chr12 | 56359718 | - | DPCD | chr10 | 103340175 | - |
| 5CDS-intron | ENST00000548747 | ENST00000370151 | PMEL | chr12 | 56359718 | - | DPCD | chr10 | 103340175 | - |
| 5CDS-intron | ENST00000548747 | ENST00000370147 | PMEL | chr12 | 56359718 | - | DPCD | chr10 | 103340175 | - |
| 5CDS-intron | ENST00000548747 | ENST00000370148 | PMEL | chr12 | 56359718 | - | DPCD | chr10 | 103340175 | - |
| 5CDS-intron | ENST00000536427 | ENST00000470165 | PMEL | chr12 | 56359718 | - | DPCD | chr10 | 103340175 | - |
| 5CDS-intron | ENST00000536427 | ENST00000416979 | PMEL | chr12 | 56359718 | - | DPCD | chr10 | 103340175 | - |
| 5CDS-intron | ENST00000536427 | ENST00000370151 | PMEL | chr12 | 56359718 | - | DPCD | chr10 | 103340175 | - |
| 5CDS-intron | ENST00000536427 | ENST00000370147 | PMEL | chr12 | 56359718 | - | DPCD | chr10 | 103340175 | - |
| 5CDS-intron | ENST00000536427 | ENST00000370148 | PMEL | chr12 | 56359718 | - | DPCD | chr10 | 103340175 | - |
| 5CDS-intron | ENST00000539511 | ENST00000470165 | PMEL | chr12 | 56359718 | - | DPCD | chr10 | 103340175 | - |
| 5CDS-intron | ENST00000539511 | ENST00000416979 | PMEL | chr12 | 56359718 | - | DPCD | chr10 | 103340175 | - |
| 5CDS-intron | ENST00000539511 | ENST00000370151 | PMEL | chr12 | 56359718 | - | DPCD | chr10 | 103340175 | - |
| 5CDS-intron | ENST00000539511 | ENST00000370147 | PMEL | chr12 | 56359718 | - | DPCD | chr10 | 103340175 | - |
| 5CDS-intron | ENST00000539511 | ENST00000370148 | PMEL | chr12 | 56359718 | - | DPCD | chr10 | 103340175 | - |
| 5CDS-intron | ENST00000360714 | ENST00000470165 | PMEL | chr12 | 56359718 | - | DPCD | chr10 | 103340175 | - |
| 5CDS-intron | ENST00000360714 | ENST00000416979 | PMEL | chr12 | 56359718 | - | DPCD | chr10 | 103340175 | - |
| 5CDS-intron | ENST00000360714 | ENST00000370151 | PMEL | chr12 | 56359718 | - | DPCD | chr10 | 103340175 | - |
| 5CDS-intron | ENST00000360714 | ENST00000370147 | PMEL | chr12 | 56359718 | - | DPCD | chr10 | 103340175 | - |
| 5CDS-intron | ENST00000360714 | ENST00000370148 | PMEL | chr12 | 56359718 | - | DPCD | chr10 | 103340175 | - |
| 5CDS-intron | ENST00000548493 | ENST00000470165 | PMEL | chr12 | 56359718 | - | DPCD | chr10 | 103340175 | - |
| 5CDS-intron | ENST00000548493 | ENST00000416979 | PMEL | chr12 | 56359718 | - | DPCD | chr10 | 103340175 | - |
| 5CDS-intron | ENST00000548493 | ENST00000370151 | PMEL | chr12 | 56359718 | - | DPCD | chr10 | 103340175 | - |
| 5CDS-intron | ENST00000548493 | ENST00000370147 | PMEL | chr12 | 56359718 | - | DPCD | chr10 | 103340175 | - |
| 5CDS-intron | ENST00000548493 | ENST00000370148 | PMEL | chr12 | 56359718 | - | DPCD | chr10 | 103340175 | - |
| 5CDS-intron | ENST00000550447 | ENST00000470165 | PMEL | chr12 | 56359718 | - | DPCD | chr10 | 103340175 | - |
| 5CDS-intron | ENST00000550447 | ENST00000416979 | PMEL | chr12 | 56359718 | - | DPCD | chr10 | 103340175 | - |
| 5CDS-intron | ENST00000550447 | ENST00000370151 | PMEL | chr12 | 56359718 | - | DPCD | chr10 | 103340175 | - |
| 5CDS-intron | ENST00000550447 | ENST00000370147 | PMEL | chr12 | 56359718 | - | DPCD | chr10 | 103340175 | - |
| 5CDS-intron | ENST00000550447 | ENST00000370148 | PMEL | chr12 | 56359718 | - | DPCD | chr10 | 103340175 | - |
| intron-intron | ENST00000548689 | ENST00000470165 | PMEL | chr12 | 56359718 | - | DPCD | chr10 | 103340175 | - |
| intron-intron | ENST00000548689 | ENST00000416979 | PMEL | chr12 | 56359718 | - | DPCD | chr10 | 103340175 | - |
| intron-intron | ENST00000548689 | ENST00000370151 | PMEL | chr12 | 56359718 | - | DPCD | chr10 | 103340175 | - |
| intron-intron | ENST00000548689 | ENST00000370147 | PMEL | chr12 | 56359718 | - | DPCD | chr10 | 103340175 | - |
| intron-intron | ENST00000548689 | ENST00000370148 | PMEL | chr12 | 56359718 | - | DPCD | chr10 | 103340175 | - |
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FusionProtFeatures for PMEL_DPCD |
| Main function of each fusion partner protein. (from UniProt) |
| Hgene | Tgene |
| PMEL | DPCD |
| Plays a central role in the biogenesis of melanosomes.Involved in the maturation of melanosomes from stage I to II. Thetransition from stage I melanosomes to stage II melanosomesinvolves an elongation of the vesicle, and the appearance withinof distinct fibrillar structures. Release of the soluble form,ME20-S, could protect tumor cells from antibody mediated immunity.{ECO:0000269|PubMed:11694580, ECO:0000269|PubMed:21962903}. | May play a role in the formation or function of ciliatedcells. {ECO:0000269|PubMed:14630615}. |
| 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 PMEL_DPCD |
| 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 PMEL_DPCD |
| 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 PMEL_DPCD |
| 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 PMEL_DPCD |
| Diseases associated with fusion partners. (DisGeNet 4.0) |
| Partner | Gene | Disease ID | Disease name | # pubmeds | Source |
| Hgene | PMEL | C0025202 | melanoma | 1 | CTD_human |
Copyright 2018-Present -The University of Texas Health Science Center at Houston (UTHealth)
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