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Fusion gene ID: 16865 |
FusionGeneSummary for HSPA4L_DSP |
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Fusion gene information | Fusion gene name: HSPA4L_DSP | Fusion gene ID: 16865 | Hgene | Tgene | Gene symbol | HSPA4L | DSP | Gene ID | 22824 | 1832 |
Gene name | heat shock protein family A (Hsp70) member 4 like | desmoplakin | |
Synonyms | APG-1|HSPH3|Osp94 | DCWHKTA|DP | |
Cytomap | 4q28.1 | 6p24.3 | |
Type of gene | protein-coding | protein-coding | |
Description | heat shock 70 kDa protein 4Lheat shock 70 kDa protein 4-like proteinheat shock 70-related protein APG-1heat shock 70kDa protein 4-likeheat shock protein (hsp110 family)osmotic stress protein 94testis tissue sperm-binding protein Li 64n | desmoplakin250/210 kDa paraneoplastic pemphigus antigen | |
Modification date | 20180523 | 20180523 | |
UniProtAcc | O95757 | P15924 | |
Ensembl transtripts involved in fusion gene | ENST00000439123, ENST00000508776, ENST00000296464, ENST00000505726, ENST00000515262, | ENST00000379802, ENST00000418664, | |
Fusion gene scores | * DoF score | 2 X 2 X 1=4 | 17 X 15 X 8=2040 |
# samples | 2 | 22 | |
** MAII score | log2(2/4*10)=2.32192809488736 | log2(22/2040*10)=-3.2129937233342 possibly effective Gene in Pan-Cancer Fusion Genes (peGinPCFGs). DoF>8 and MAII<0 | |
Context | PubMed: HSPA4L [Title/Abstract] AND DSP [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) |
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Partner | Gene | GO ID | GO term | PubMed ID |
Tgene | DSP | GO:0018149 | peptide cross-linking | 10908733 |
Tgene | 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 |
ChiTaRS3.1 | BF746859 | HSPA4L | chr4 | 128753956 | - | DSP | chr6 | 7586608 | + |
* 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 |
5CDS-3UTR | ENST00000439123 | ENST00000379802 | HSPA4L | chr4 | 128753956 | - | DSP | chr6 | 7586608 | + |
5CDS-3UTR | ENST00000439123 | ENST00000418664 | HSPA4L | chr4 | 128753956 | - | DSP | chr6 | 7586608 | + |
5CDS-3UTR | ENST00000508776 | ENST00000379802 | HSPA4L | chr4 | 128753956 | - | DSP | chr6 | 7586608 | + |
5CDS-3UTR | ENST00000508776 | ENST00000418664 | HSPA4L | chr4 | 128753956 | - | DSP | chr6 | 7586608 | + |
5CDS-3UTR | ENST00000296464 | ENST00000379802 | HSPA4L | chr4 | 128753956 | - | DSP | chr6 | 7586608 | + |
5CDS-3UTR | ENST00000296464 | ENST00000418664 | HSPA4L | chr4 | 128753956 | - | DSP | chr6 | 7586608 | + |
5CDS-3UTR | ENST00000505726 | ENST00000379802 | HSPA4L | chr4 | 128753956 | - | DSP | chr6 | 7586608 | + |
5CDS-3UTR | ENST00000505726 | ENST00000418664 | HSPA4L | chr4 | 128753956 | - | DSP | chr6 | 7586608 | + |
intron-3UTR | ENST00000515262 | ENST00000379802 | HSPA4L | chr4 | 128753956 | - | DSP | chr6 | 7586608 | + |
intron-3UTR | ENST00000515262 | ENST00000418664 | HSPA4L | chr4 | 128753956 | - | DSP | chr6 | 7586608 | + |
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FusionProtFeatures for HSPA4L_DSP |
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Hgene | Tgene |
HSPA4L | DSP |
Possesses chaperone activity in vitro where it inhibitsaggregation of citrate synthase. {ECO:0000250}. | 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. |
![]() * 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 HSPA4L_DSP |
![]() (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 HSPA4L_DSP |
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Hgene | Hgene's interactors | Tgene | Tgene's interactors |
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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 HSPA4L_DSP |
![]() (DrugBank Version 5.1.0 2018-04-02) |
Partner | Gene | UniProtAcc | DrugBank ID | Drug name | Drug activity | Drug type | Drug status |
Tgene | DSP | P15924 | DB01593 | Zinc | Desmoplakin | small molecule | approved|investigational |
Tgene | DSP | P15924 | DB11638 | Artenimol | Desmoplakin | small molecule | approved|investigational |
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RelatedDiseases for HSPA4L_DSP |
![]() (DisGeNet 4.0) |
Partner | Gene | Disease ID | Disease name | # pubmeds | Source |
Tgene | DSP | C1843896 | Arrhythmogenic Right Ventricular Dysplasia, Familial, 8 | 3 | CTD_human;UNIPROT |
Tgene | DSP | C4014393 | CARDIOMYOPATHY, DILATED, WITH WOOLLY HAIR, KERATODERMA, AND TOOTH AGENESIS | 2 | UNIPROT |
Tgene | DSP | C0085298 | Sudden Cardiac Death | 1 | CTD_human;HPO |
Tgene | DSP | C1800706 | Idiopathic Pulmonary Fibrosis | 1 | CTD_human;ORPHANET |
Tgene | DSP | C1843292 | Skin Fragility-Woolly Hair Syndrome | 1 | CTD_human;ORPHANET;UNIPROT |
Tgene | DSP | C1854063 | Cardiomyopathy dilated with Woolly hair and keratoderma | 1 | CTD_human;ORPHANET |