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Fusion gene ID: 5698 |
FusionGeneSummary for CBR4_COL11A1 |
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Fusion gene information | Fusion gene name: CBR4_COL11A1 | Fusion gene ID: 5698 | Hgene | Tgene | Gene symbol | CBR4 | COL11A1 | Gene ID | 84869 | 1301 |
Gene name | carbonyl reductase 4 | collagen type XI alpha 1 chain | |
Synonyms | SDR45C1 | CO11A1|COLL6|STL2 | |
Cytomap | 4q32.3 | 1p21.1 | |
Type of gene | protein-coding | protein-coding | |
Description | carbonyl reductase family member 43-ketoacyl-[acyl-carrier-protein] reductase beta subunit3-oxoacyl-[acyl-carrier-protein] reductaseKAR beta subunitcarbonic reductase 4quinone reductase CBR4short chain dehydrogenase/reductase family 45C member 1 | collagen alpha-1(XI) chaincollagen XI, alpha-1 polypeptidecollagen, type XI, alpha 1 | |
Modification date | 20180522 | 20180523 | |
UniProtAcc | Q8N4T8 | P12107 | |
Ensembl transtripts involved in fusion gene | ENST00000509108, ENST00000306193, ENST00000504480, | ENST00000370096, ENST00000353414, ENST00000358392, ENST00000512756, ENST00000461720, | |
Fusion gene scores | * DoF score | 3 X 2 X 3=18 | 2 X 2 X 2=8 |
# samples | 3 | 2 | |
** MAII score | log2(3/18*10)=0.736965594166206 effective Gene in Pan-Cancer Fusion Genes (eGinPCFGs). DoF>8 and MAII>0 | log2(2/8*10)=1.32192809488736 | |
Context | PubMed: CBR4 [Title/Abstract] AND COL11A1 [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 |
Hgene | CBR4 | GO:0051290 | protein heterotetramerization | 25203508 |
Hgene | CBR4 | GO:0055114 | oxidation-reduction process | 25203508 |
![]() (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 | AW175786 | CBR4 | chr4 | 169917061 | + | COL11A1 | chr1 | 103488351 | + |
* 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 |
intron-3CDS | ENST00000509108 | ENST00000370096 | CBR4 | chr4 | 169917061 | + | COL11A1 | chr1 | 103488351 | + |
intron-3CDS | ENST00000509108 | ENST00000353414 | CBR4 | chr4 | 169917061 | + | COL11A1 | chr1 | 103488351 | + |
intron-3CDS | ENST00000509108 | ENST00000358392 | CBR4 | chr4 | 169917061 | + | COL11A1 | chr1 | 103488351 | + |
intron-intron | ENST00000509108 | ENST00000512756 | CBR4 | chr4 | 169917061 | + | COL11A1 | chr1 | 103488351 | + |
intron-intron | ENST00000509108 | ENST00000461720 | CBR4 | chr4 | 169917061 | + | COL11A1 | chr1 | 103488351 | + |
intron-3CDS | ENST00000306193 | ENST00000370096 | CBR4 | chr4 | 169917061 | + | COL11A1 | chr1 | 103488351 | + |
intron-3CDS | ENST00000306193 | ENST00000353414 | CBR4 | chr4 | 169917061 | + | COL11A1 | chr1 | 103488351 | + |
intron-3CDS | ENST00000306193 | ENST00000358392 | CBR4 | chr4 | 169917061 | + | COL11A1 | chr1 | 103488351 | + |
intron-intron | ENST00000306193 | ENST00000512756 | CBR4 | chr4 | 169917061 | + | COL11A1 | chr1 | 103488351 | + |
intron-intron | ENST00000306193 | ENST00000461720 | CBR4 | chr4 | 169917061 | + | COL11A1 | chr1 | 103488351 | + |
intron-3CDS | ENST00000504480 | ENST00000370096 | CBR4 | chr4 | 169917061 | + | COL11A1 | chr1 | 103488351 | + |
intron-3CDS | ENST00000504480 | ENST00000353414 | CBR4 | chr4 | 169917061 | + | COL11A1 | chr1 | 103488351 | + |
intron-3CDS | ENST00000504480 | ENST00000358392 | CBR4 | chr4 | 169917061 | + | COL11A1 | chr1 | 103488351 | + |
intron-intron | ENST00000504480 | ENST00000512756 | CBR4 | chr4 | 169917061 | + | COL11A1 | chr1 | 103488351 | + |
intron-intron | ENST00000504480 | ENST00000461720 | CBR4 | chr4 | 169917061 | + | COL11A1 | chr1 | 103488351 | + |
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FusionProtFeatures for CBR4_COL11A1 |
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Hgene | Tgene |
CBR4 | COL11A1 |
The heterotetramer with HSD17B8 has NADH-dependent 3-ketoacyl-acyl carrier protein reductase activity, and therebyplays a role in mitochondrial fatty acid biosynthesis(PubMed:19571038, PubMed:25203508). Within the heterotetramer,HSD17B8 binds NADH; CBR4 binds NADPD (PubMed:25203508). Thehomotetramer has NADPH-dependent quinone reductase activity(PubMed:19000905). Both homotetramer and the heterotetramer havebroad substrate specificity and can reduce 9,10-phenanthrenequinone, 1,4-benzoquinone and various other o-quinonesand p-quinones (in vitro) (PubMed:19000905, PubMed:19571038,PubMed:25203508). {ECO:0000269|PubMed:19000905,ECO:0000269|PubMed:19571038, ECO:0000269|PubMed:25203508}. |
![]() * 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 CBR4_COL11A1 |
![]() (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 CBR4_COL11A1 |
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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 CBR4_COL11A1 |
![]() (DrugBank Version 5.1.0 2018-04-02) |
Partner | Gene | UniProtAcc | DrugBank ID | Drug name | Drug activity | Drug type | Drug status |
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RelatedDiseases for CBR4_COL11A1 |
![]() (DisGeNet 4.0) |
Partner | Gene | Disease ID | Disease name | # pubmeds | Source |
Tgene | COL11A1 | C1858084 | STICKLER SYNDROME, TYPE II (disorder) | 3 | CTD_human;ORPHANET;UNIPROT |
Tgene | COL11A1 | C0017605 | Angle Closure Glaucoma | 2 | CTD_human |
Tgene | COL11A1 | C0021818 | Intervertebral Disk Displacement | 1 | CTD_human |
Tgene | COL11A1 | C0029422 | Osteochondrodysplasias | 1 | CTD_human |
Tgene | COL11A1 | C0029927 | Ovarian Cysts | 1 | CTD_human |
Tgene | COL11A1 | C0265235 | Marshall syndrome | 1 | CTD_human;ORPHANET |
Tgene | COL11A1 | C0376634 | Craniofacial Abnormalities | 1 | CTD_human |
Tgene | COL11A1 | C3278138 | FIBROCHONDROGENESIS 1 | 1 | UNIPROT |