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Fusion gene ID: 16869 |
FusionGeneSummary for HSPA5_SF3A2 |
 Fusion gene summary |
| Fusion gene information | Fusion gene name: HSPA5_SF3A2 | Fusion gene ID: 16869 | Hgene | Tgene | Gene symbol | HSPA5 | SF3A2 | Gene ID | 3309 | 8175 |
| Gene name | heat shock protein family A (Hsp70) member 5 | splicing factor 3a subunit 2 | |
| Synonyms | BIP|GRP78|HEL-S-89n|MIF2 | PRP11|PRPF11|SAP62|SF3a66 | |
| Cytomap | 9q33.3 | 19p13.3 | |
| Type of gene | protein-coding | protein-coding | |
| Description | 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 | splicing factor 3A subunit 2SAP 62pre-mRNA splicing factor SF3A, subunit 2spliceosome associated protein 62splicing factor 3a, subunit 2, 66kDsplicing factor 3a, subunit 2, 66kDa | |
| Modification date | 20180527 | 20180523 | |
| UniProtAcc | P11021 | Q15428 | |
| Ensembl transtripts involved in fusion gene | ENST00000324460, | ENST00000221494, | |
| Fusion gene scores | * DoF score | 2 X 2 X 1=4 | 2 X 2 X 1=4 |
| # samples | 2 | 2 | |
| ** MAII score | log2(2/4*10)=2.32192809488736 | log2(2/4*10)=2.32192809488736 | |
| Context | PubMed: HSPA5 [Title/Abstract] AND SF3A2 [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 | HSPA5 | GO:0042149 | cellular response to glucose starvation | 10085239 |
| 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 | BF762437 | HSPA5 | chr9 | 127999282 | + | SF3A2 | chr19 | 2248554 | + |
| * 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 |
| intron-3UTR | ENST00000324460 | ENST00000221494 | HSPA5 | chr9 | 127999282 | + | SF3A2 | chr19 | 2248554 | + |
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FusionProtFeatures for HSPA5_SF3A2 |
| Main function of each fusion partner protein. (from UniProt) |
| Hgene | Tgene |
| HSPA5 | SF3A2 |
| Endoplasmic reticulum chaperone that plays a key role inprotein folding and quality control in the endoplasmic reticulumlumen (PubMed:2294010, PubMed:23769672, PubMed:23990668,PubMed:28332555). Involved in the correct folding of proteins anddegradation of misfolded proteins via its interaction withDNAJC10/ERdj5, probably to facilitate the release of DNAJC10/ERdj5from its substrate (By similarity). Acts as a key repressor of theERN1/IRE1-mediated unfolded protein response (UPR)(PubMed:1550958, PubMed:19538957). In the unstressed endoplasmicreticulum, recruited by DNAJB9/ERdj4 to the luminal region ofERN1/IRE1, leading to disrupt the dimerization of ERN1/IRE1,thereby inactivating ERN1/IRE1 (By similarity). Accumulation ofmisfolded protein in the endoplasmic reticulum causes release ofHSPA5/BiP from ERN1/IRE1, allowing homodimerization and subsequentactivation of ERN1/IRE1 (By similarity).{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:28332555}. | Subunit of the splicing factor SF3A required for 'A'complex assembly formed by the stable binding of U2 snRNP to thebranchpoint sequence (BPS) in pre-mRNA. Sequence independentbinding of SF3A/SF3B complex upstream of the branch site isessential, it may anchor U2 snRNP to the pre-mRNA. May also beinvolved in the assembly of the 'E' complex. |
| 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 HSPA5_SF3A2 |
| 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 HSPA5_SF3A2 |
| 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 HSPA5_SF3A2 |
| 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 |
| Hgene | HSPA5 | P11021 | DB00025 | Antihemophilic factor, human recombinant | Endoplasmic reticulum chaperone BiP {ECO:0000305} | biotech | approved|investigational |
| Hgene | HSPA5 | P11021 | DB00945 | Acetylsalicylic acid | Endoplasmic reticulum chaperone BiP {ECO:0000305} | small molecule | approved|vet_approved |
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RelatedDiseases for HSPA5_SF3A2 |
| Diseases associated with fusion partners. (DisGeNet 4.0) |
| Partner | Gene | Disease ID | Disease name | # pubmeds | Source |
| Hgene | HSPA5 | C0003949 | Asbestosis | 1 | CTD_human |
| Hgene | HSPA5 | C0005586 | Bipolar Disorder | 1 | PSYGENET |
| Hgene | HSPA5 | C0023473 | Myeloid Leukemia, Chronic | 1 | CTD_human |
| Hgene | HSPA5 | C0027051 | Myocardial Infarction | 1 | CTD_human |
| Hgene | HSPA5 | C0028754 | Obesity | 1 | CTD_human |
| Hgene | HSPA5 | C0035228 | Respiratory Hypersensitivity | 1 | CTD_human |
| Hgene | HSPA5 | C0279626 | Squamous cell carcinoma of esophagus | 1 | CTD_human |
| Hgene | HSPA5 | C0376545 | Hematologic Neoplasms | 1 | CTD_human |
| Hgene | HSPA5 | C0853193 | Bipolar I disorder | 1 | PSYGENET |
| Hgene | HSPA5 | C1846707 | SPINOCEREBELLAR ATAXIA 17 | 1 | CTD_human |
| Hgene | HSPA5 | C2239176 | Liver carcinoma | 1 | CTD_human |
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