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Fusion gene ID: 10599 |
FusionGeneSummary for DSP_LY86 |
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Fusion gene information | Fusion gene name: DSP_LY86 | Fusion gene ID: 10599 | Hgene | Tgene | Gene symbol | DSP | LY86 | Gene ID | 1832 | 9450 |
Gene name | desmoplakin | lymphocyte antigen 86 | |
Synonyms | DCWHKTA|DP | MD-1|MD1|MMD-1|dJ80N2.1 | |
Cytomap | 6p24.3 | 6p25.1 | |
Type of gene | protein-coding | protein-coding | |
Description | desmoplakin250/210 kDa paraneoplastic pemphigus antigen | lymphocyte antigen 86MD-1, RP105-associatedly-86protein MD-1 | |
Modification date | 20180523 | 20180519 | |
UniProtAcc | P15924 | O95711 | |
Ensembl transtripts involved in fusion gene | ENST00000379802, ENST00000418664, | ENST00000379953, ENST00000230568, | |
Fusion gene scores | * DoF score | 7 X 9 X 6=378 | 2 X 2 X 2=8 |
# samples | 11 | 2 | |
** MAII score | log2(11/378*10)=-1.78088271069641 possibly effective Gene in Pan-Cancer Fusion Genes (peGinPCFGs). DoF>8 and MAII<0 | log2(2/8*10)=1.32192809488736 | |
Context | PubMed: DSP [Title/Abstract] AND LY86 [Title/Abstract] AND fusion [Title/Abstract] | ||
Functional or gene categories assigned by FusionGDB annotation | Tumor suppressor gene involved fusion gene, retained protein feature but frameshift. DDR (DNA damage repair) gene involved fusion gene, in-frame but not retained their domain. |
* 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 |
Hgene | DSP | GO:0018149 | peptide cross-linking | 10908733 |
Hgene | DSP | GO:0030216 | keratinocyte differentiation | 10908733 |
![]() (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 | ESCA | TCGA-JY-A6FD-01A | DSP | chr6 | 7542318 | + | LY86 | chr6 | 6649858 | + |
* 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 |
Frame-shift | ENST00000379802 | ENST00000379953 | DSP | chr6 | 7542318 | + | LY86 | chr6 | 6649858 | + |
Frame-shift | ENST00000379802 | ENST00000230568 | DSP | chr6 | 7542318 | + | LY86 | chr6 | 6649858 | + |
Frame-shift | ENST00000418664 | ENST00000379953 | DSP | chr6 | 7542318 | + | LY86 | chr6 | 6649858 | + |
Frame-shift | ENST00000418664 | ENST00000230568 | DSP | chr6 | 7542318 | + | LY86 | chr6 | 6649858 | + |
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FusionProtFeatures for DSP_LY86 |
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Hgene | Tgene |
DSP | LY86 |
Major high molecular weight protein of desmosomes.Involved in the organization of the desmosomal cadherin-plakoglobin complexes into discrete plasma membrane domains and inthe anchoring of intermediate filaments to the desmosomes. | May cooperate with CD180 and TLR4 to mediate the innateimmune response to bacterial lipopolysaccharide (LPS) and cytokineproduction. Important for efficient CD180 cell surface expression(By similarity). {ECO:0000250}. |
![]() * 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 DSP_LY86 |
![]() (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 DSP_LY86 |
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Hgene | Hgene's interactors | Tgene | Tgene's interactors |
DSP | STK24, PKP3, PKP4, PKP2, CSTA, IVL, PECAM1, CDH5, JUP, DSC1, PKP1, VIM, KRT1, DES, DSP, PRKCE, PPP2R2A, UCHL5, INSIG2, SIRT7, CUL3, CDK2, CUL2, COPS5, CAND1, NEDD8, EVPL, AK2, PSEN1, OVCA2, VTN, PRKCA, TECR, RAB5B, HNMT, VCP, IFIT3, IQCB1, TARDBP, RPA1, RPA2, RPA3, WWOX, ZBTB1, TUBG1, CUL7, OBSL1, CCDC8, EED, SIRT6, FES, JAK1, HNRNPA1, NTRK1, KRT16, PTEN, PCM1, AHI1, OFD1, CEP152, CNTROB, CEP128, CNTRL, NINL, HIST1H3E, DYNLL1, SEC16A, NAP1L4, TELO2, SEC22A, HEATR3, CEP72, FOXA3, FOXE1, MCM2, MCM5, SNW1, CDC5L, CDC73, MTMR9, C6orf141, CCDC51, CDK15, CYLD, CDK1, COQ2, DLD, DLST, PDHA1, SDHA, SOAT1, G3BP1, BRCA1 | LY86 | CD180, APP |
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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 DSP_LY86 |
![]() (DrugBank Version 5.1.0 2018-04-02) |
Partner | Gene | UniProtAcc | DrugBank ID | Drug name | Drug activity | Drug type | Drug status |
Hgene | DSP | P15924 | DB01593 | Zinc | Desmoplakin | small molecule | approved|investigational |
Hgene | DSP | P15924 | DB11638 | Artenimol | Desmoplakin | small molecule | approved|investigational |
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RelatedDiseases for DSP_LY86 |
![]() (DisGeNet 4.0) |
Partner | Gene | Disease ID | Disease name | # pubmeds | Source |
Hgene | DSP | C1843896 | Arrhythmogenic Right Ventricular Dysplasia, Familial, 8 | 3 | CTD_human;UNIPROT |
Hgene | DSP | C4014393 | CARDIOMYOPATHY, DILATED, WITH WOOLLY HAIR, KERATODERMA, AND TOOTH AGENESIS | 2 | UNIPROT |
Hgene | DSP | C0085298 | Sudden Cardiac Death | 1 | CTD_human;HPO |
Hgene | DSP | C1800706 | Idiopathic Pulmonary Fibrosis | 1 | CTD_human;ORPHANET |
Hgene | DSP | C1843292 | Skin Fragility-Woolly Hair Syndrome | 1 | CTD_human;ORPHANET;UNIPROT |
Hgene | DSP | C1854063 | Cardiomyopathy dilated with Woolly hair and keratoderma | 1 | CTD_human;ORPHANET |
Tgene | LY86 | C0006663 | Calcinosis | 1 | CTD_human |
Tgene | LY86 | C0018824 | Heart valve disease | 1 | CTD_human |
Tgene | LY86 | C0023893 | Liver Cirrhosis, Experimental | 1 | CTD_human |