|
Fusion gene ID: 8999 |
FusionGeneSummary for CUL7_CUL7 |
Fusion gene summary |
Fusion gene information | Fusion gene name: CUL7_CUL7 | Fusion gene ID: 8999 | Hgene | Tgene | Gene symbol | CUL7 | CUL7 | Gene ID | 9820 | 9820 |
Gene name | cullin 7 | cullin 7 | |
Synonyms | 3M1|CUL-7|KIAA0076|dJ20C7.5 | 3M1|CUL-7|KIAA0076|dJ20C7.5 | |
Cytomap | 6p21.1 | 6p21.1 | |
Type of gene | protein-coding | protein-coding | |
Description | cullin-7 | cullin-7 | |
Modification date | 20180519 | 20180519 | |
UniProtAcc | Q14999 | Q14999 | |
Ensembl transtripts involved in fusion gene | ENST00000265348, ENST00000535468, ENST00000478630, | ENST00000265348, ENST00000535468, ENST00000478630, | |
Fusion gene scores | * DoF score | 2 X 2 X 2=8 | 2 X 2 X 2=8 |
# samples | 3 | 3 | |
** MAII score | log2(3/8*10)=1.90689059560852 | log2(3/8*10)=1.90689059560852 | |
Context | PubMed: CUL7 [Title/Abstract] AND CUL7 [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 | CUL7 | GO:0001837 | epithelial to mesenchymal transition | 20139075 |
Hgene | CUL7 | GO:0001890 | placenta development | 20139075 |
Hgene | CUL7 | GO:0016567 | protein ubiquitination | 18498745 |
Tgene | CUL7 | GO:0001837 | epithelial to mesenchymal transition | 20139075 |
Tgene | CUL7 | GO:0001890 | placenta development | 20139075 |
Tgene | CUL7 | GO:0016567 | protein ubiquitination | 18498745 |
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 | BI053718 | CUL7 | chr6 | 43018039 | - | CUL7 | chr6 | 43020345 | - | ||
ChiTaRS3.1 | BI053744 | CUL7 | chr6 | 43018039 | - | CUL7 | chr6 | 43020345 | - |
* 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-3CDS | ENST00000265348 | ENST00000265348 | CUL7 | chr6 | 43018039 | - | CUL7 | chr6 | 43020345 | - |
intron-3CDS | ENST00000265348 | ENST00000535468 | CUL7 | chr6 | 43018039 | - | CUL7 | chr6 | 43020345 | - |
intron-intron | ENST00000265348 | ENST00000478630 | CUL7 | chr6 | 43018039 | - | CUL7 | chr6 | 43020345 | - |
intron-3CDS | ENST00000535468 | ENST00000265348 | CUL7 | chr6 | 43018039 | - | CUL7 | chr6 | 43020345 | - |
intron-3CDS | ENST00000535468 | ENST00000535468 | CUL7 | chr6 | 43018039 | - | CUL7 | chr6 | 43020345 | - |
intron-intron | ENST00000535468 | ENST00000478630 | CUL7 | chr6 | 43018039 | - | CUL7 | chr6 | 43020345 | - |
intron-3CDS | ENST00000478630 | ENST00000265348 | CUL7 | chr6 | 43018039 | - | CUL7 | chr6 | 43020345 | - |
intron-3CDS | ENST00000478630 | ENST00000535468 | CUL7 | chr6 | 43018039 | - | CUL7 | chr6 | 43020345 | - |
intron-intron | ENST00000478630 | ENST00000478630 | CUL7 | chr6 | 43018039 | - | CUL7 | chr6 | 43020345 | - |
Top |
FusionProtFeatures for CUL7_CUL7 |
Main function of each fusion partner protein. (from UniProt) |
Hgene | Tgene |
CUL7 | CUL7 |
Core component of the 3M and Cul7-RING(FBXW8) complexes,which mediates the ubiquitination of target proteins. Corecomponent of the 3M complex, a complex required to regulatemicrotubule dynamics and genome integrity. It is unclear how the3M complex regulates microtubules, it could act by controlling thelevel of a microtubule stabilizer (PubMed:24793695). Interactionwith CUL9 is required to inhibit CUL9 activity and ubiquitinationof BIRC5 (PubMed:24793696). Core component of a Cul7-RINGubiquitin-protein ligase with FBXW8, which mediates ubiquitinationand consequent degradation of target proteins such as GORASP1,IRS1 and MAP4K1/HPK1 (PubMed:21572988, PubMed:24362026).Ubiquitination of GORASP1 regulates Golgi morphogenesis anddendrite patterning in brain (PubMed:21572988). Mediatesubiquitination and degradation of IRS1 in a mTOR-dependent manner:the Cul7-RING(FBXW8) complex recognizes and binds IRS1 previouslyphosphorylated by S6 kinase (RPS6KB1 or RPS6KB2)(PubMed:18498745). The Cul7-RING(FBXW8) complex also mediatesubiquitination of MAP4K1/HPK1: recognizes and bindsautophosphorylated MAP4K1/HPK1, leading to its degradation,thereby affecting cell proliferation and differentiation(PubMed:24362026). Acts as a regulator in trophoblast cellepithelial-mesenchymal transition and placental development(PubMed:20139075). Does not promote polyubiquitination andproteasomal degradation of p53/TP53 (PubMed:16547496,PubMed:17332328). While the Cul7-RING(FBXW8) and the 3M complexesare associated and involved in common processes, CUL7 and theCul7-RING(FBXW8) complex may be have additional functions.{ECO:0000269|PubMed:16547496, ECO:0000269|PubMed:17332328,ECO:0000269|PubMed:18498745, ECO:0000269|PubMed:20139075,ECO:0000269|PubMed:21572988, ECO:0000269|PubMed:24362026,ECO:0000269|PubMed:24793695, ECO:0000269|PubMed:24793696}. | Core component of the 3M and Cul7-RING(FBXW8) complexes,which mediates the ubiquitination of target proteins. Corecomponent of the 3M complex, a complex required to regulatemicrotubule dynamics and genome integrity. It is unclear how the3M complex regulates microtubules, it could act by controlling thelevel of a microtubule stabilizer (PubMed:24793695). Interactionwith CUL9 is required to inhibit CUL9 activity and ubiquitinationof BIRC5 (PubMed:24793696). Core component of a Cul7-RINGubiquitin-protein ligase with FBXW8, which mediates ubiquitinationand consequent degradation of target proteins such as GORASP1,IRS1 and MAP4K1/HPK1 (PubMed:21572988, PubMed:24362026).Ubiquitination of GORASP1 regulates Golgi morphogenesis anddendrite patterning in brain (PubMed:21572988). Mediatesubiquitination and degradation of IRS1 in a mTOR-dependent manner:the Cul7-RING(FBXW8) complex recognizes and binds IRS1 previouslyphosphorylated by S6 kinase (RPS6KB1 or RPS6KB2)(PubMed:18498745). The Cul7-RING(FBXW8) complex also mediatesubiquitination of MAP4K1/HPK1: recognizes and bindsautophosphorylated MAP4K1/HPK1, leading to its degradation,thereby affecting cell proliferation and differentiation(PubMed:24362026). Acts as a regulator in trophoblast cellepithelial-mesenchymal transition and placental development(PubMed:20139075). Does not promote polyubiquitination andproteasomal degradation of p53/TP53 (PubMed:16547496,PubMed:17332328). While the Cul7-RING(FBXW8) and the 3M complexesare associated and involved in common processes, CUL7 and theCul7-RING(FBXW8) complex may be have additional functions.{ECO:0000269|PubMed:16547496, ECO:0000269|PubMed:17332328,ECO:0000269|PubMed:18498745, ECO:0000269|PubMed:20139075,ECO:0000269|PubMed:21572988, ECO:0000269|PubMed:24362026,ECO:0000269|PubMed:24793695, ECO:0000269|PubMed:24793696}. |
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 |
Top |
FusionGeneSequence for CUL7_CUL7 |
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). |
Top |
FusionGenePPI for CUL7_CUL7 |
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 |
Top |
RelatedDrugs for CUL7_CUL7 |
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 |
Top |
RelatedDiseases for CUL7_CUL7 |
Diseases associated with fusion partners. (DisGeNet 4.0) |
Partner | Gene | Disease ID | Disease name | # pubmeds | Source |
Hgene | CUL7 | C2678312 | Three M Syndrome 1 | 2 | UNIPROT |
Hgene | CUL7 | C0004352 | Autistic Disorder | 1 | CTD_human |
Hgene | CUL7 | C0007134 | Renal Cell Carcinoma | 1 | CTD_human |
Tgene | CUL7 | C2678312 | Three M Syndrome 1 | 2 | UNIPROT |
Tgene | CUL7 | C0004352 | Autistic Disorder | 1 | CTD_human |
Tgene | CUL7 | C0007134 | Renal Cell Carcinoma | 1 | CTD_human |