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Fusion gene ID: 30155 |
FusionGeneSummary for RAD1_CA13 |
Fusion gene summary |
Fusion gene information | Fusion gene name: RAD1_CA13 | Fusion gene ID: 30155 | Hgene | Tgene | Gene symbol | RAD1 | CA13 | Gene ID | 5810 | 377677 |
Gene name | RAD1 checkpoint DNA exonuclease | carbonic anhydrase 13 | |
Synonyms | HRAD1|REC1 | CAXIII | |
Cytomap | 5p13.2 | 8q21.2 | |
Type of gene | protein-coding | protein-coding | |
Description | cell cycle checkpoint protein RAD1DNA repair exonuclease REC1DNA repair exonuclease rad1 homologRAD1 checkpoint clamp componentRAD1 homologcell cycle checkpoint protein Hrad1checkpoint control protein HRAD1exonuclease homolog RAD1rad1-like DNA dam | carbonic anhydrase 13CA-XIIIcarbonate dehydratase XIIIcarbonic anhydrase XIII | |
Modification date | 20180523 | 20180522 | |
UniProtAcc | O60671 | Q8N1Q1 | |
Ensembl transtripts involved in fusion gene | ENST00000382038, ENST00000341754, | ENST00000517298, ENST00000321764, | |
Fusion gene scores | * DoF score | 3 X 3 X 2=18 | 3 X 6 X 1=18 |
# samples | 3 | 7 | |
** MAII score | log2(3/18*10)=0.736965594166206 effective Gene in Pan-Cancer Fusion Genes (eGinPCFGs). DoF>8 and MAII>0 | log2(7/18*10)=1.95935801550265 effective Gene in Pan-Cancer Fusion Genes (eGinPCFGs). DoF>8 and MAII>0 | |
Context | PubMed: RAD1 [Title/Abstract] AND CA13 [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 | RAD1 | GO:0071479 | cellular response to ionizing radiation | 21659603 |
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 | BQ772417 | RAD1 | chr5 | 34906140 | + | CA13 | chr8 | 86195173 | - |
* 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-intron | ENST00000382038 | ENST00000517298 | RAD1 | chr5 | 34906140 | + | CA13 | chr8 | 86195173 | - |
intron-3UTR | ENST00000382038 | ENST00000321764 | RAD1 | chr5 | 34906140 | + | CA13 | chr8 | 86195173 | - |
intron-intron | ENST00000341754 | ENST00000517298 | RAD1 | chr5 | 34906140 | + | CA13 | chr8 | 86195173 | - |
intron-3UTR | ENST00000341754 | ENST00000321764 | RAD1 | chr5 | 34906140 | + | CA13 | chr8 | 86195173 | - |
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FusionProtFeatures for RAD1_CA13 |
Main function of each fusion partner protein. (from UniProt) |
Hgene | Tgene |
RAD1 | CA13 |
Component of the 9-1-1 cell-cycle checkpoint responsecomplex that plays a major role in DNA repair (PubMed:10846170,PubMed:10884395). The 9-1-1 complex is recruited to DNA lesionupon damage by the RAD17-replication factor C (RFC) clamp loadercomplex (PubMed:12578958). Acts then as a sliding clamp platformon DNA for several proteins involved in long-patch base excisionrepair (LP-BER) (PubMed:15871698). The 9-1-1 complex stimulatesDNA polymerase beta (POLB) activity by increasing its affinity forthe 3'-OH end of the primer-template and stabilizes POLB to thosesites where LP-BER proceeds; endonuclease FEN1 cleavage activityon substrates with double, nick, or gap flaps of distinctsequences and lengths; and DNA ligase I (LIG1) on long-patch baseexcision repair substrates (PubMed:15314187, PubMed:15556996,PubMed:15871698). The 9-1-1 complex is necessary for therecruitment of RHNO1 to sites of double-stranded breaks (DSB)occurring during the S phase (PubMed:21659603). Isoform 1possesses 3'->5' double stranded DNA exonuclease activity(PubMed:9660799). {ECO:0000269|PubMed:10846170,ECO:0000269|PubMed:10884395, ECO:0000269|PubMed:12578958,ECO:0000269|PubMed:15314187, ECO:0000269|PubMed:15556996,ECO:0000269|PubMed:15871698, ECO:0000269|PubMed:21659603,ECO:0000269|PubMed:9660799}. | Reversible hydration of carbon dioxide. |
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 RAD1_CA13 |
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 RAD1_CA13 |
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 RAD1_CA13 |
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 | CA13 | Q8N1Q1 | DB00909 | Zonisamide | Carbonic anhydrase 13 | small molecule | approved|investigational |
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RelatedDiseases for RAD1_CA13 |
Diseases associated with fusion partners. (DisGeNet 4.0) |
Partner | Gene | Disease ID | Disease name | # pubmeds | Source |