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Fusion gene ID: 34003 |
FusionGeneSummary for SKP1_HSPB1 |
Fusion gene summary |
Fusion gene information | Fusion gene name: SKP1_HSPB1 | Fusion gene ID: 34003 | Hgene | Tgene | Gene symbol | SKP1 | HSPB1 | Gene ID | 6500 | 3315 |
Gene name | S-phase kinase associated protein 1 | heat shock protein family B (small) member 1 | |
Synonyms | EMC19|OCP-II|OCP2|SKP1A|TCEB1L|p19A | CMT2F|HEL-S-102|HMN2B|HS.76067|HSP27|HSP28|Hsp25|SRP27 | |
Cytomap | 5q31.1 | 7q11.23 | |
Type of gene | protein-coding | protein-coding | |
Description | S-phase kinase-associated protein 1OCP-2RNA polymerase II elongation factor-like protein OCP2SIIIcyclin A/CDK2-associated p19cyclin-A/CDK2-associated protein p19organ of Corti protein 2organ of Corti protein IIp19skp1transcription elongation fact | heat shock protein beta-128 kDa heat shock proteinepididymis secretory protein Li 102estrogen-regulated 24 kDa proteinheat shock 27 kDa proteinheat shock 27kD protein 1heat shock 27kDa protein 1stress-responsive protein 27 | |
Modification date | 20180523 | 20180527 | |
UniProtAcc | P63208 | P04792 | |
Ensembl transtripts involved in fusion gene | ENST00000353411, ENST00000522552, ENST00000521216, ENST00000517625, ENST00000522855, | ENST00000248553, ENST00000429938, | |
Fusion gene scores | * DoF score | 5 X 5 X 2=50 | 8 X 8 X 3=192 |
# samples | 5 | 9 | |
** MAII score | log2(5/50*10)=0 | log2(9/192*10)=-1.09310940439148 possibly effective Gene in Pan-Cancer Fusion Genes (peGinPCFGs). DoF>8 and MAII<0 | |
Context | PubMed: SKP1 [Title/Abstract] AND HSPB1 [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 | SKP1 | GO:0016567 | protein ubiquitination | 15103331 |
Hgene | SKP1 | GO:0031146 | SCF-dependent proteasomal ubiquitin-dependent protein catabolic process | 15103331|20347421 |
Hgene | SKP1 | GO:0035518 | histone H2A monoubiquitination | 16943429 |
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 | AJ710478 | SKP1 | chr5 | 133496716 | - | HSPB1 | chr7 | 75932016 | + |
* 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-5UTR | ENST00000353411 | ENST00000248553 | SKP1 | chr5 | 133496716 | - | HSPB1 | chr7 | 75932016 | + |
intron-intron | ENST00000353411 | ENST00000429938 | SKP1 | chr5 | 133496716 | - | HSPB1 | chr7 | 75932016 | + |
intron-5UTR | ENST00000522552 | ENST00000248553 | SKP1 | chr5 | 133496716 | - | HSPB1 | chr7 | 75932016 | + |
intron-intron | ENST00000522552 | ENST00000429938 | SKP1 | chr5 | 133496716 | - | HSPB1 | chr7 | 75932016 | + |
5CDS-5UTR | ENST00000521216 | ENST00000248553 | SKP1 | chr5 | 133496716 | - | HSPB1 | chr7 | 75932016 | + |
5CDS-intron | ENST00000521216 | ENST00000429938 | SKP1 | chr5 | 133496716 | - | HSPB1 | chr7 | 75932016 | + |
intron-5UTR | ENST00000517625 | ENST00000248553 | SKP1 | chr5 | 133496716 | - | HSPB1 | chr7 | 75932016 | + |
intron-intron | ENST00000517625 | ENST00000429938 | SKP1 | chr5 | 133496716 | - | HSPB1 | chr7 | 75932016 | + |
intron-5UTR | ENST00000522855 | ENST00000248553 | SKP1 | chr5 | 133496716 | - | HSPB1 | chr7 | 75932016 | + |
intron-intron | ENST00000522855 | ENST00000429938 | SKP1 | chr5 | 133496716 | - | HSPB1 | chr7 | 75932016 | + |
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FusionProtFeatures for SKP1_HSPB1 |
Main function of each fusion partner protein. (from UniProt) |
Hgene | Tgene |
SKP1 | HSPB1 |
Essential component of the SCF (SKP1-CUL1-F-box protein)ubiquitin ligase complex, which mediates the ubiquitination ofproteins involved in cell cycle progression, signal transductionand transcription. In the SCF complex, serves as an adapter thatlinks the F-box protein to CUL1. The functional specificity of theSCF complex depends on the F-box protein as substrate recognitioncomponent. SCF(BTRC) and SCF(FBXW11) direct ubiquitination ofCTNNB1 and participate in Wnt signaling. SCF(FBXW11) directsubiquitination of phosphorylated NFKBIA. SCF(BTRC) directsubiquitination of NFKBIB, NFKBIE, ATF4, SMAD3, SMAD4, CDC25A,FBXO5, CEP68 and probably NFKB2 (PubMed:25704143). SCF(SKP2)directs ubiquitination of phosphorylated CDKN1B/p27kip and isinvolved in regulation of G1/S transition. SCF(SKP2) directsubiquitination of ORC1, CDT1, RBL2, ELF4, CDKN1A, RAG2, FOXO1A,and probably MYC and TAL1. SCF(FBXW7) directs ubiquitination ofcyclin E, NOTCH1 released notch intracellular domain (NICD), andprobably PSEN1. SCF(FBXW2) directs ubiquitination of GCM1.SCF(FBXO32) directs ubiquitination of MYOD1. SCF(FBXO7) directsubiquitination of BIRC2 and DLGAP5. SCF(FBXO33) directsubiquitination of YBX1. SCF(FBXO11) directs ubiquitination of BCL6and DTL but does not seem to direct ubiquitination of TP53.SCF(BTRC) mediates the ubiquitination of NFKBIA at 'Lys-21' and'Lys-22'; the degradation frees the associated NFKB1-RELA dimer totranslocate into the nucleus and to activate transcription.SCF(CCNF) directs ubiquitination of CCP110. SCF(FBXL3) andSCF(FBXL21) direct ubiquitination of CRY1 and CRY2. SCF(FBXO9)directs ubiquitination of TTI1 and TELO2. SCF(FBXO10) directsubiquitination of BCL2. {ECO:0000269|PubMed:16209941,ECO:0000269|PubMed:20181953, ECO:0000269|PubMed:22113614,ECO:0000269|PubMed:23431138, ECO:0000269|PubMed:25704143}. |
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 SKP1_HSPB1 |
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 SKP1_HSPB1 |
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 SKP1_HSPB1 |
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 |
Tgene | HSPB1 | P04792 | DB11638 | Artenimol | Heat shock protein beta-1 | small molecule | approved|investigational |
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RelatedDiseases for SKP1_HSPB1 |
Diseases associated with fusion partners. (DisGeNet 4.0) |
Partner | Gene | Disease ID | Disease name | # pubmeds | Source |
Tgene | HSPB1 | C2608087 | NEURONOPATHY, DISTAL HEREDITARY MOTOR, TYPE IIB | 9 | CTD_human;UNIPROT |
Tgene | HSPB1 | C1847823 | CHARCOT-MARIE-TOOTH DISEASE, AXONAL, TYPE 2F | 6 | CTD_human;ORPHANET;UNIPROT |
Tgene | HSPB1 | C0007134 | Renal Cell Carcinoma | 1 | CTD_human |
Tgene | HSPB1 | C0007137 | Squamous cell carcinoma | 1 | CTD_human |
Tgene | HSPB1 | C0007194 | Hypertrophic Cardiomyopathy | 1 | CTD_human |
Tgene | HSPB1 | C0009375 | Colonic Neoplasms | 1 | CTD_human |
Tgene | HSPB1 | C0011616 | Contact Dermatitis | 1 | CTD_human |
Tgene | HSPB1 | C0018801 | Heart failure | 1 | CTD_human |
Tgene | HSPB1 | C0019693 | HIV Infections | 1 | CTD_human |
Tgene | HSPB1 | C0020507 | Hyperplasia | 1 | CTD_human |
Tgene | HSPB1 | C0023467 | Leukemia, Myelocytic, Acute | 1 | CTD_human |
Tgene | HSPB1 | C0026640 | Mouth Neoplasms | 1 | CTD_human |
Tgene | HSPB1 | C0026764 | Multiple Myeloma | 1 | CTD_human |
Tgene | HSPB1 | C0035126 | Reperfusion Injury | 1 | CTD_human |
Tgene | HSPB1 | C0038220 | Status Epilepticus | 1 | CTD_human |
Tgene | HSPB1 | C0038356 | Stomach Neoplasms | 1 | CTD_human |
Tgene | HSPB1 | C0040411 | Tongue Neoplasms | 1 | CTD_human |
Tgene | HSPB1 | C0152013 | Adenocarcinoma of lung (disorder) | 1 | CTD_human |
Tgene | HSPB1 | C2239176 | Liver carcinoma | 1 | CTD_human |