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 | Fusion Gene Summary |
| Fusion Gene ORF analysis |
| Fusion Genomic Features |
| Fusion Protein Features |
| Fusion Gene Sequence |
| Fusion Gene PPI analysis |
| Related Drugs |
| Related Diseases |
Fusion gene:CYB5D2-HSPA5 (FusionGDB2 ID:20925) |
Fusion Gene Summary for CYB5D2-HSPA5 |
 Fusion gene summary |
| Fusion gene information | Fusion gene name: CYB5D2-HSPA5 | Fusion gene ID: 20925 | Hgene | Tgene | Gene symbol | CYB5D2 | HSPA5 | Gene ID | 124936 | 3309 |
| Gene name | cytochrome b5 domain containing 2 | heat shock protein family A (Hsp70) member 5 | |
| Synonyms | - | BIP|GRP78|HEL-S-89n|MIF2 | |
| Cytomap | 17p13.2 | 9q33.3 | |
| Type of gene | protein-coding | protein-coding | |
| Description | neuferricincytochrome b5 domain-containing protein 2 | endoplasmic reticulum chaperone BiP78 kDa glucose-regulated proteinHSP70 family protein 5binding-immunoglobulin proteinendoplasmic reticulum lumenal Ca(2+)-binding protein grp78epididymis secretory sperm binding protein Li 89nglucose-regulated prote | |
| Modification date | 20200313 | 20200327 | |
| UniProtAcc | . | P11021 | |
| Ensembl transtripts involved in fusion gene | ENST00000573984, ENST00000575251, ENST00000301391, ENST00000575411, | ENST00000324460, | |
| Fusion gene scores | * DoF score | 5 X 6 X 3=90 | 18 X 13 X 4=936 |
| # samples | 6 | 18 | |
| ** MAII score | log2(6/90*10)=-0.584962500721156 possibly effective Gene in Pan-Cancer Fusion Genes (peGinPCFGs). DoF>8 and MAII<0 | log2(18/936*10)=-2.37851162325373 possibly effective Gene in Pan-Cancer Fusion Genes (peGinPCFGs). DoF>8 and MAII<0 | |
| Context | PubMed: CYB5D2 [Title/Abstract] AND HSPA5 [Title/Abstract] AND fusion [Title/Abstract] | ||
| Most frequent breakpoint | CYB5D2(4060827)-HSPA5(128000443), # samples:1 | ||
| Anticipated loss of major functional domain due to fusion event. | |||
| * 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 |
| Tgene | HSPA5 | GO:0042149 | cellular response to glucose starvation | 10085239 |
| Fusion gene breakpoints across CYB5D2 (5'-gene) * Click on the image to open the UCSC genome browser with custom track showing this image in a new window. |
| Fusion gene breakpoints across HSPA5 (3'-gene) * Click on the image to open the UCSC genome browser with custom track showing this image in a new window. |
| Fusion gene information from two resources (ChiTars 5.0 and ChimerDB 4.0) * 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. |
| Source | Disease | Sample | Hgene | Hchr | Hbp | Hstrand | Tgene | Tchr | Tbp | Tstrand |
| ChiTaRS5.0 | N/A | AI191499 | CYB5D2 | chr17 | 4060827 | - | HSPA5 | chr9 | 128000443 | + |
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Fusion Gene ORF analysis for CYB5D2-HSPA5 |
| 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-3CDS | ENST00000573984 | ENST00000324460 | CYB5D2 | chr17 | 4060827 | - | HSPA5 | chr9 | 128000443 | + |
| 3UTR-3CDS | ENST00000575251 | ENST00000324460 | CYB5D2 | chr17 | 4060827 | - | HSPA5 | chr9 | 128000443 | + |
| 3UTR-3CDS | ENST00000301391 | ENST00000324460 | CYB5D2 | chr17 | 4060827 | - | HSPA5 | chr9 | 128000443 | + |
| intron-3CDS | ENST00000575411 | ENST00000324460 | CYB5D2 | chr17 | 4060827 | - | HSPA5 | chr9 | 128000443 | + |
| ORFfinder result based on the fusion transcript sequence of in-frame fusion genes. |
| Henst | Tenst | Hgene | Hchr | Hbp | Hstrand | Tgene | Tchr | Tbp | Tstrand | Seq length (transcript) | BP loci (transcript) | Predicted start (transcript) | Predicted stop (transcript) | Seq length (amino acids) |
| DeepORF prediction of the coding potential based on the fusion transcript sequence of in-frame fusion genes. DeepORF is a coding potential classifier based on convolutional neural network by comparing the real Ribo-seq data. If the no-coding score < 0.5 and coding score > 0.5, then the in-frame fusion transcript is predicted as being likely translated. |
| Henst | Tenst | Hgene | Hchr | Hbp | Hstrand | Tgene | Tchr | Tbp | Tstrand | No-coding score | Coding score |
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Fusion Genomic Features for CYB5D2-HSPA5 |
| FusionAI prediction of the potential fusion gene breakpoint based on the pre-mature RNA sequence context (+/- 5kb of individual partner genes, total 20kb length sequence). FusionAI is a fusion gene breakpoint classifier based on convolutional neural network by comparing the fusion positive and negative sequence context of ~ 20K fusion gene data. From here, we can have the relative potentency of the 20K genomic sequence how individual sequnce will be likely used as the gene fusion breakpoints. |
| Hgene | Hchr | Hbp | Hstrand | Tgene | Tchr | Tbp | Tstrand | 1-p | p (fusion gene breakpoint) |
| Distribution of 44 human genomic features loci across 20kb length fusion breakpoint regions. We integrated a total of 44 different types of human genomic feature loci information across five big categories including virus integration sites, repeats, structural variants, chromatin states, and gene expression regulation. More details are in help page. |
| Distribution of 44 human genomic features loci across 20kb length fusion breakpoint regions that are ovelapped with the top 1% feature importance score regions. More details are in help page. |
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Fusion Protein Features for CYB5D2-HSPA5 |
| Go to FGviewer for the breakpoints of :-: - FGviewer provides the online visualization of the retention search of the protein functional features across DNA, RNA, protein, and pathological levels. |
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| Main function of each fusion partner protein. (from UniProt) |
| Hgene | Tgene |
| . | HSPA5 |
| FUNCTION: Might normally function as a transcriptional repressor. EWS-fusion-proteins (EFPS) may play a role in the tumorigenic process. They may disturb gene expression by mimicking, or interfering with the normal function of CTD-POLII within the transcription initiation complex. They may also contribute to an aberrant activation of the fusion protein target genes. | FUNCTION: Endoplasmic reticulum chaperone that plays a key role in protein folding and quality control in the endoplasmic reticulum lumen (PubMed:2294010, PubMed:23769672, PubMed:23990668, PubMed:28332555). Involved in the correct folding of proteins and degradation of misfolded proteins via its interaction with DNAJC10/ERdj5, probably to facilitate the release of DNAJC10/ERdj5 from its substrate (By similarity). Acts as a key repressor of the ERN1/IRE1-mediated unfolded protein response (UPR) (PubMed:1550958, PubMed:19538957). In the unstressed endoplasmic reticulum, recruited by DNAJB9/ERdj4 to the luminal region of ERN1/IRE1, leading to disrupt the dimerization of ERN1/IRE1, thereby inactivating ERN1/IRE1 (By similarity). Accumulation of misfolded protein in the endoplasmic reticulum causes release of HSPA5/BiP from ERN1/IRE1, allowing homodimerization and subsequent activation of ERN1/IRE1 (By similarity). Plays an auxiliary role in post-translational transport of small presecretory proteins across endoplasmic reticulum (ER). May function as an allosteric modulator for SEC61 channel-forming translocon complex, likely cooperating with SEC62 to enable the productive insertion of these precursors into SEC61 channel. Appears to specifically regulate translocation of precursors having inhibitory residues in their mature region that weaken channel gating. May also play a role in apoptosis and cell proliferation (PubMed:26045166). {ECO:0000250|UniProtKB:G3I8R9, ECO:0000250|UniProtKB:P20029, ECO:0000269|PubMed:1550958, ECO:0000269|PubMed:19538957, ECO:0000269|PubMed:2294010, ECO:0000269|PubMed:23769672, ECO:0000269|PubMed:23990668, ECO:0000269|PubMed:26045166, ECO:0000269|PubMed:28332555, ECO:0000269|PubMed:29719251}. |
| 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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Fusion Gene Sequence for CYB5D2-HSPA5 |
| For in-frame fusion transcripts, we provide the fusion transcript sequences and fusion amino acid sequences. To have fusion amino acid sequence, we ran ORFfinder and chose the longest ORF among the all predicted ones. |
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Fusion Gene PPI Analysis for CYB5D2-HSPA5 |
| 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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Related Drugs for CYB5D2-HSPA5 |
| Drugs targeting genes involved in this fusion gene. (DrugBank Version 5.1.8 2021-05-08) |
| Partner | Gene | UniProtAcc | DrugBank ID | Drug name | Drug activity | Drug type | Drug status |
| Tgene | HSPA5 | P11021 | DB13999 | Moroctocog alfa | Chaperone | Biotech | Approved |
| Tgene | HSPA5 | P11021 | DB13999 | Moroctocog alfa | Chaperone | Biotech | Approved |
| Tgene | HSPA5 | P11021 | DB00025 | Antihemophilic factor, human recombinant | Chaperone | Biotech | Approved|Investigational |
| Tgene | HSPA5 | P11021 | DB00025 | Antihemophilic factor, human recombinant | Chaperone | Biotech | Approved|Investigational |
| Tgene | HSPA5 | P11021 | DB09130 | Copper | Small molecule | Approved|Investigational | |
| Tgene | HSPA5 | P11021 | DB09130 | Copper | Small molecule | Approved|Investigational | |
| Tgene | HSPA5 | P11021 | DB13998 | Lonoctocog alfa | Chaperone | Biotech | Approved|Investigational |
| Tgene | HSPA5 | P11021 | DB13998 | Lonoctocog alfa | Chaperone | Biotech | Approved|Investigational |
| Tgene | HSPA5 | P11021 | DB00945 | Acetylsalicylic acid | Binding | Small molecule | Approved|Vet_approved |
| Tgene | HSPA5 | P11021 | DB00945 | Acetylsalicylic acid | Binding | Small molecule | Approved|Vet_approved |
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Related Diseases for CYB5D2-HSPA5 |
| Diseases associated with fusion partners. (DisGeNet 4.0) |
| Partner | Gene | Disease ID | Disease name | # pubmeds | Source |
| Tgene | HSPA5 | C2239176 | Liver carcinoma | 2 | CTD_human |
| Tgene | HSPA5 | C0003949 | Asbestosis | 1 | CTD_human |
| Tgene | HSPA5 | C0005586 | Bipolar Disorder | 1 | PSYGENET |
| Tgene | HSPA5 | C0019193 | Hepatitis, Toxic | 1 | CTD_human |
| Tgene | HSPA5 | C0023473 | Myeloid Leukemia, Chronic | 1 | CTD_human |
| Tgene | HSPA5 | C0027051 | Myocardial Infarction | 1 | CTD_human |
| Tgene | HSPA5 | C0028754 | Obesity | 1 | CTD_human |
| Tgene | HSPA5 | C0035228 | Respiratory Hypersensitivity | 1 | CTD_human |
| Tgene | HSPA5 | C0279626 | Squamous cell carcinoma of esophagus | 1 | CTD_human |
| Tgene | HSPA5 | C0376544 | Hematopoietic Neoplasms | 1 | CTD_human |
| Tgene | HSPA5 | C0376545 | Hematologic Neoplasms | 1 | CTD_human |
| Tgene | HSPA5 | C0860207 | Drug-Induced Liver Disease | 1 | CTD_human |
| Tgene | HSPA5 | C1262760 | Hepatitis, Drug-Induced | 1 | CTD_human |
| Tgene | HSPA5 | C1846707 | SPINOCEREBELLAR ATAXIA 17 | 1 | CTD_human |
| Tgene | HSPA5 | C2930617 | Pulmonary Fibrosis - from Asbestos Exposure | 1 | CTD_human |
| Tgene | HSPA5 | C3658290 | Drug-Induced Acute Liver Injury | 1 | CTD_human |
| Tgene | HSPA5 | C4277682 | Chemical and Drug Induced Liver Injury | 1 | CTD_human |
| Tgene | HSPA5 | C4279912 | Chemically-Induced Liver Toxicity | 1 | CTD_human |
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