Fusion gene information | Fusion gene name: DSP-IGKJ4 |
Fusion gene ID: hg1832tg28947 | | Hgene | Tgene | Gene symbol | DSP | IGKJ4 | Gene ID | 1832 | 28947 | Gene name | desmoplakin | |
Synonyms | DCWHKTA|DP | |
Cytomap | ('DSP')('IGKJ4') 6p24.3 | |
Type of gene | protein-coding | |
Description | desmoplakin250/210 kDa paraneoplastic pemphigus antigen | |
Modification date | 20200327 | |
UniProtAcc | P15924 | . |
Ensembl transtripts involved in fusion gene | ENST00000379802, ENST00000418664,
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Fusion gene scores | * DoF score | 16 X 19 X 11=3344 | 23 X 12 X 13=3588 |
# samples | 22 | 24 |
** MAII score | log2(22/3344*10)=-3.92599941855622 possibly effective Gene in Pan-Cancer Fusion Genes (peGinPCFGs). DoF>8 and MAII<0 | log2(24/3588*10)=-3.90207357931074 possibly effective Gene in Pan-Cancer Fusion Genes (peGinPCFGs). DoF>8 and MAII<0 |
Context | PubMed: DSP [Title/Abstract] AND IGKJ4 [Title/Abstract] AND fusion [Title/Abstract] |
Most frequent breakpoint | DSP(7569562)-IGKJ4(89160429), # samples:1
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Anticipated loss of major functional domain due to fusion event. | DSP-IGKJ4 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. DSP-IGKJ4 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.
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Partner | Gene | Hbp | Tbp | ENST | Strand | BPexon | TotalExon | Protein feature loci | *BPloci | TotalLen | Protein feature | Protein feature note |
Hgene | DSP | chr6:7569562 | chr2:89160429 | ENST00000379802 | + | 1 | 24 | 1018_1945 | 0 | 2872.0 | Coiled coil | Ontology_term=ECO:0000255 |
Hgene | DSP | chr6:7569562 | chr2:89160429 | ENST00000418664 | + | 1 | 24 | 1018_1945 | 0 | 2273.0 | Coiled coil | Ontology_term=ECO:0000255 |
Hgene | DSP | chr6:7569562 | chr2:89160429 | ENST00000379802 | + | 1 | 24 | 458_515 | 0 | 2872.0 | Domain | SH3 |
Hgene | DSP | chr6:7569562 | chr2:89160429 | ENST00000418664 | + | 1 | 24 | 458_515 | 0 | 2273.0 | Domain | SH3 |
Hgene | DSP | chr6:7569562 | chr2:89160429 | ENST00000379802 | + | 1 | 24 | 1057_1945 | 0 | 2872.0 | Region | Note=Central fibrous rod domain |
Hgene | DSP | chr6:7569562 | chr2:89160429 | ENST00000379802 | + | 1 | 24 | 1946_2871 | 0 | 2872.0 | Region | Note=Globular 2 |
Hgene | DSP | chr6:7569562 | chr2:89160429 | ENST00000379802 | + | 1 | 24 | 1960_2208 | 0 | 2872.0 | Region | Note=4.5 X 38 AA tandem repeats (Domain A) |
Hgene | DSP | chr6:7569562 | chr2:89160429 | ENST00000379802 | + | 1 | 24 | 1_1056 | 0 | 2872.0 | Region | Note=Globular 1 |
Hgene | DSP | chr6:7569562 | chr2:89160429 | ENST00000379802 | + | 1 | 24 | 2244_2446 | 0 | 2872.0 | Region | Note=4.5 X 38 AA tandem repeats (Domain B) |
Hgene | DSP | chr6:7569562 | chr2:89160429 | ENST00000379802 | + | 1 | 24 | 2609_2822 | 0 | 2872.0 | Region | Note=4.5 X 38 AA tandem repeats (Domain C) |
Hgene | DSP | chr6:7569562 | chr2:89160429 | ENST00000379802 | + | 1 | 24 | 2824_2847 | 0 | 2872.0 | Region | Note=6 X 4 AA tandem repeats of G-S-R-[SR] |
Hgene | DSP | chr6:7569562 | chr2:89160429 | ENST00000418664 | + | 1 | 24 | 1057_1945 | 0 | 2273.0 | Region | Note=Central fibrous rod domain |
Hgene | DSP | chr6:7569562 | chr2:89160429 | ENST00000418664 | + | 1 | 24 | 1946_2871 | 0 | 2273.0 | Region | Note=Globular 2 |
Hgene | DSP | chr6:7569562 | chr2:89160429 | ENST00000418664 | + | 1 | 24 | 1960_2208 | 0 | 2273.0 | Region | Note=4.5 X 38 AA tandem repeats (Domain A) |
Hgene | DSP | chr6:7569562 | chr2:89160429 | ENST00000418664 | + | 1 | 24 | 1_1056 | 0 | 2273.0 | Region | Note=Globular 1 |
Hgene | DSP | chr6:7569562 | chr2:89160429 | ENST00000418664 | + | 1 | 24 | 2244_2446 | 0 | 2273.0 | Region | Note=4.5 X 38 AA tandem repeats (Domain B) |
Hgene | DSP | chr6:7569562 | chr2:89160429 | ENST00000418664 | + | 1 | 24 | 2609_2822 | 0 | 2273.0 | Region | Note=4.5 X 38 AA tandem repeats (Domain C) |
Hgene | DSP | chr6:7569562 | chr2:89160429 | ENST00000418664 | + | 1 | 24 | 2824_2847 | 0 | 2273.0 | Region | Note=6 X 4 AA tandem repeats of G-S-R-[SR] |
Hgene | DSP | chr6:7569562 | chr2:89160429 | ENST00000379802 | + | 1 | 24 | 178_271 | 0 | 2872.0 | Repeat | Note=Spectrin 1 |
Hgene | DSP | chr6:7569562 | chr2:89160429 | ENST00000379802 | + | 1 | 24 | 2009_2045 | 0 | 2872.0 | Repeat | Note=Plectin 1 |
Hgene | DSP | chr6:7569562 | chr2:89160429 | ENST00000379802 | + | 1 | 24 | 2046_2083 | 0 | 2872.0 | Repeat | Note=Plectin 2 |
Hgene | DSP | chr6:7569562 | chr2:89160429 | ENST00000379802 | + | 1 | 24 | 2084_2121 | 0 | 2872.0 | Repeat | Note=Plectin 3 |
Hgene | DSP | chr6:7569562 | chr2:89160429 | ENST00000379802 | + | 1 | 24 | 2122_2159 | 0 | 2872.0 | Repeat | Note=Plectin 4 |
Hgene | DSP | chr6:7569562 | chr2:89160429 | ENST00000379802 | + | 1 | 24 | 2163_2197 | 0 | 2872.0 | Repeat | Note=Plectin 5 |
Hgene | DSP | chr6:7569562 | chr2:89160429 | ENST00000379802 | + | 1 | 24 | 2198_2233 | 0 | 2872.0 | Repeat | Note=Plectin 6 |
Hgene | DSP | chr6:7569562 | chr2:89160429 | ENST00000379802 | + | 1 | 24 | 2251_2288 | 0 | 2872.0 | Repeat | Note=Plectin 7 |
Hgene | DSP | chr6:7569562 | chr2:89160429 | ENST00000379802 | + | 1 | 24 | 2289_2326 | 0 | 2872.0 | Repeat | Note=Plectin 8 |
Hgene | DSP | chr6:7569562 | chr2:89160429 | ENST00000379802 | + | 1 | 24 | 2327_2364 | 0 | 2872.0 | Repeat | Note=Plectin 9 |
Hgene | DSP | chr6:7569562 | chr2:89160429 | ENST00000379802 | + | 1 | 24 | 2365_2402 | 0 | 2872.0 | Repeat | Note=Plectin 10 |
Hgene | DSP | chr6:7569562 | chr2:89160429 | ENST00000379802 | + | 1 | 24 | 2406_2440 | 0 | 2872.0 | Repeat | Note=Plectin 11 |
Hgene | DSP | chr6:7569562 | chr2:89160429 | ENST00000379802 | + | 1 | 24 | 2456_2493 | 0 | 2872.0 | Repeat | Note=Plectin 12 |
Hgene | DSP | chr6:7569562 | chr2:89160429 | ENST00000379802 | + | 1 | 24 | 2507_2544 | 0 | 2872.0 | Repeat | Note=Plectin 13 |
Hgene | DSP | chr6:7569562 | chr2:89160429 | ENST00000379802 | + | 1 | 24 | 2610_2647 | 0 | 2872.0 | Repeat | Note=Plectin 14 |
Hgene | DSP | chr6:7569562 | chr2:89160429 | ENST00000379802 | + | 1 | 24 | 2648_2685 | 0 | 2872.0 | Repeat | Note=Plectin 15 |
Hgene | DSP | chr6:7569562 | chr2:89160429 | ENST00000379802 | + | 1 | 24 | 2724_2761 | 0 | 2872.0 | Repeat | Note=Plectin 16 |
Hgene | DSP | chr6:7569562 | chr2:89160429 | ENST00000379802 | + | 1 | 24 | 272_375 | 0 | 2872.0 | Repeat | Note=Spectrin 2 |
Hgene | DSP | chr6:7569562 | chr2:89160429 | ENST00000379802 | + | 1 | 24 | 2762_2799 | 0 | 2872.0 | Repeat | Note=Plectin 17 |
Hgene | DSP | chr6:7569562 | chr2:89160429 | ENST00000379802 | + | 1 | 24 | 376_446 | 0 | 2872.0 | Repeat | Note=Spectrin 3a |
Hgene | DSP | chr6:7569562 | chr2:89160429 | ENST00000379802 | + | 1 | 24 | 516_545 | 0 | 2872.0 | Repeat | Note=Spectrin 3b |
Hgene | DSP | chr6:7569562 | chr2:89160429 | ENST00000379802 | + | 1 | 24 | 546_627 | 0 | 2872.0 | Repeat | Note=Spectrin 4 |
Hgene | DSP | chr6:7569562 | chr2:89160429 | ENST00000379802 | + | 1 | 24 | 654_769 | 0 | 2872.0 | Repeat | Note=Spectrin 5 |
Hgene | DSP | chr6:7569562 | chr2:89160429 | ENST00000379802 | + | 1 | 24 | 770_883 | 0 | 2872.0 | Repeat | Note=Spectrin 6 |
Hgene | DSP | chr6:7569562 | chr2:89160429 | ENST00000418664 | + | 1 | 24 | 178_271 | 0 | 2273.0 | Repeat | Note=Spectrin 1 |
Hgene | DSP | chr6:7569562 | chr2:89160429 | ENST00000418664 | + | 1 | 24 | 2009_2045 | 0 | 2273.0 | Repeat | Note=Plectin 1 |
Hgene | DSP | chr6:7569562 | chr2:89160429 | ENST00000418664 | + | 1 | 24 | 2046_2083 | 0 | 2273.0 | Repeat | Note=Plectin 2 |
Hgene | DSP | chr6:7569562 | chr2:89160429 | ENST00000418664 | + | 1 | 24 | 2084_2121 | 0 | 2273.0 | Repeat | Note=Plectin 3 |
Hgene | DSP | chr6:7569562 | chr2:89160429 | ENST00000418664 | + | 1 | 24 | 2122_2159 | 0 | 2273.0 | Repeat | Note=Plectin 4 |
Hgene | DSP | chr6:7569562 | chr2:89160429 | ENST00000418664 | + | 1 | 24 | 2163_2197 | 0 | 2273.0 | Repeat | Note=Plectin 5 |
Hgene | DSP | chr6:7569562 | chr2:89160429 | ENST00000418664 | + | 1 | 24 | 2198_2233 | 0 | 2273.0 | Repeat | Note=Plectin 6 |
Hgene | DSP | chr6:7569562 | chr2:89160429 | ENST00000418664 | + | 1 | 24 | 2251_2288 | 0 | 2273.0 | Repeat | Note=Plectin 7 |
Hgene | DSP | chr6:7569562 | chr2:89160429 | ENST00000418664 | + | 1 | 24 | 2289_2326 | 0 | 2273.0 | Repeat | Note=Plectin 8 |
Hgene | DSP | chr6:7569562 | chr2:89160429 | ENST00000418664 | + | 1 | 24 | 2327_2364 | 0 | 2273.0 | Repeat | Note=Plectin 9 |
Hgene | DSP | chr6:7569562 | chr2:89160429 | ENST00000418664 | + | 1 | 24 | 2365_2402 | 0 | 2273.0 | Repeat | Note=Plectin 10 |
Hgene | DSP | chr6:7569562 | chr2:89160429 | ENST00000418664 | + | 1 | 24 | 2406_2440 | 0 | 2273.0 | Repeat | Note=Plectin 11 |
Hgene | DSP | chr6:7569562 | chr2:89160429 | ENST00000418664 | + | 1 | 24 | 2456_2493 | 0 | 2273.0 | Repeat | Note=Plectin 12 |
Hgene | DSP | chr6:7569562 | chr2:89160429 | ENST00000418664 | + | 1 | 24 | 2507_2544 | 0 | 2273.0 | Repeat | Note=Plectin 13 |
Hgene | DSP | chr6:7569562 | chr2:89160429 | ENST00000418664 | + | 1 | 24 | 2610_2647 | 0 | 2273.0 | Repeat | Note=Plectin 14 |
Hgene | DSP | chr6:7569562 | chr2:89160429 | ENST00000418664 | + | 1 | 24 | 2648_2685 | 0 | 2273.0 | Repeat | Note=Plectin 15 |
Hgene | DSP | chr6:7569562 | chr2:89160429 | ENST00000418664 | + | 1 | 24 | 2724_2761 | 0 | 2273.0 | Repeat | Note=Plectin 16 |
Hgene | DSP | chr6:7569562 | chr2:89160429 | ENST00000418664 | + | 1 | 24 | 272_375 | 0 | 2273.0 | Repeat | Note=Spectrin 2 |
Hgene | DSP | chr6:7569562 | chr2:89160429 | ENST00000418664 | + | 1 | 24 | 2762_2799 | 0 | 2273.0 | Repeat | Note=Plectin 17 |
Hgene | DSP | chr6:7569562 | chr2:89160429 | ENST00000418664 | + | 1 | 24 | 376_446 | 0 | 2273.0 | Repeat | Note=Spectrin 3a |
Hgene | DSP | chr6:7569562 | chr2:89160429 | ENST00000418664 | + | 1 | 24 | 516_545 | 0 | 2273.0 | Repeat | Note=Spectrin 3b |
Hgene | DSP | chr6:7569562 | chr2:89160429 | ENST00000418664 | + | 1 | 24 | 546_627 | 0 | 2273.0 | Repeat | Note=Spectrin 4 |
Hgene | DSP | chr6:7569562 | chr2:89160429 | ENST00000418664 | + | 1 | 24 | 654_769 | 0 | 2273.0 | Repeat | Note=Spectrin 5 |
Hgene | DSP | chr6:7569562 | chr2:89160429 | ENST00000418664 | + | 1 | 24 | 770_883 | 0 | 2273.0 | Repeat | Note=Spectrin 6 |
Partner | Gene | Disease ID | Disease name | # pubmeds | Source |
Hgene | DSP | C1843896 | Arrhythmogenic Right Ventricular Dysplasia, Familial, 8 | 8 | CTD_human;GENOMICS_ENGLAND;UNIPROT |
Hgene | DSP | C1854063 | Cardiomyopathy dilated with Woolly hair and keratoderma | 7 | CTD_human;GENOMICS_ENGLAND;ORPHANET |
Hgene | DSP | C1864826 | Epidermolysis bullosa, lethal acantholytic | 7 | CTD_human;GENOMICS_ENGLAND;ORPHANET |
Hgene | DSP | C1843292 | Skin Fragility-Woolly Hair Syndrome | 6 | CTD_human;GENOMICS_ENGLAND;ORPHANET;UNIPROT |
Hgene | DSP | C4014393 | CARDIOMYOPATHY, DILATED, WITH WOOLLY HAIR, KERATODERMA, AND TOOTH AGENESIS | 6 | CTD_human;GENOMICS_ENGLAND;UNIPROT |
Hgene | DSP | C1852127 | KERATOSIS PALMOPLANTARIS STRIATA II | 5 | CTD_human;GENOMICS_ENGLAND |
Hgene | DSP | C0024117 | Chronic Obstructive Airway Disease | 1 | CTD_human |
Hgene | DSP | C0034069 | Pulmonary Fibrosis | 1 | CTD_human |
Hgene | DSP | C0085298 | Sudden Cardiac Death | 1 | CTD_human |
Hgene | DSP | C0085786 | Hamman-Rich syndrome | 1 | ORPHANET |
Hgene | DSP | C1527303 | Chronic Airflow Obstruction | 1 | CTD_human |
Hgene | DSP | C1720824 | Sudden Cardiac Arrest | 1 | CTD_human |
Hgene | DSP | C1800706 | Idiopathic Pulmonary Fibrosis | 1 | CTD_human;ORPHANET |
Hgene | DSP | C3809719 | Severe dermatitis, multiple allergies, metabolic wasting syndrome | 1 | ORPHANET |
Hgene | DSP | C4707237 | Striate palmoplantar keratoderma | 1 | ORPHANET |
Hgene | DSP | C4721507 | Alveolitis, Fibrosing | 1 | CTD_human |
Hgene | DSP | C4721508 | Hamman-Rich Disease | 1 | CTD_human |
Hgene | DSP | C4721509 | Usual Interstitial Pneumonia | 1 | CTD_human |
Hgene | DSP | C4721952 | Familial Idiopathic Pulmonary Fibrosis | 1 | CTD_human |