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Center for Computational Systems Medicine
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FusionGeneSummary

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FusionProtFeature

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FusionGeneSequence

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FusionGenePPI

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RelatedDrugs

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RelatedDiseases

Fusion gene ID: 30155

FusionGeneSummary for RAD1_CA13

check button Fusion gene summary
Fusion gene informationFusion gene name: RAD1_CA13
Fusion gene ID: 30155
HgeneTgene
Gene symbol

RAD1

CA13

Gene ID

5810

377677

Gene nameRAD1 checkpoint DNA exonucleasecarbonic anhydrase 13
SynonymsHRAD1|REC1CAXIII
Cytomap

5p13.2

8q21.2

Type of geneprotein-codingprotein-coding
Descriptioncell 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 damcarbonic anhydrase 13CA-XIIIcarbonate dehydratase XIIIcarbonic anhydrase XIII
Modification date2018052320180522
UniProtAcc

O60671

Q8N1Q1

Ensembl transtripts involved in fusion geneENST00000382038, ENST00000341754, 
ENST00000517298, ENST00000321764, 
Fusion gene scores* DoF score3 X 3 X 2=183 X 6 X 1=18
# samples 37
** MAII scorelog2(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)

check button Gene ontology of each fusion partner gene with evidence of Inferred from Direct Assay (IDA) from Entrez
PartnerGeneGO IDGO termPubMed ID
HgeneRAD1

GO:0071479

cellular response to ionizing radiation

21659603


check button 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 typeSourceCancer typeSampleHgeneHchrHbpHstrandTgeneTchrTbpTstrand
ChiTaRS3.1BQ772417RAD1chr5

34906140

+CA13chr8

86195173

-
* LD: Li Ding group's fusion gene list
  RV: Roel Verhaak group's fusion gene list
  ChiTaRs fusion database

check button 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.
ORFHenstTenstHgeneHchrHbpHstrandTgeneTchrTbpTstrand
intron-intronENST00000382038ENST00000517298RAD1chr5

34906140

+CA13chr8

86195173

-
intron-3UTRENST00000382038ENST00000321764RAD1chr5

34906140

+CA13chr8

86195173

-
intron-intronENST00000341754ENST00000517298RAD1chr5

34906140

+CA13chr8

86195173

-
intron-3UTRENST00000341754ENST00000321764RAD1chr5

34906140

+CA13chr8

86195173

-

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FusionProtFeatures for RAD1_CA13


check buttonMain function of each fusion partner protein. (from UniProt)
HgeneTgene
RAD1

O60671

CA13

Q8N1Q1

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.

check buttonRetention 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

download page

.

* 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.
PartnerGeneHbpTbpENSTStrandBPexonTotalExonProtein feature loci*BPlociTotalLenProtein featureProtein feature note

- In-frame and not-retained protein feature among the 13 regional features.
PartnerGeneHbpTbpENSTStrandBPexonTotalExonProtein feature loci*BPlociTotalLenProtein featureProtein feature note


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FusionGeneSequence for RAD1_CA13


check button 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


check button Go to ChiPPI (Chimeric Protein-Protein interactions) to see the chimeric PPI interaction in

ChiPPI page

.

check button Protein-protein interactors with each fusion partner protein in wild-type (BIOGRID-3.4.160)
HgeneHgene's interactorsTgeneTgene's interactors


check button - Retained PPIs in in-frame fusion.
PartnerGeneHbpTbpENSTStrandBPexonTotalExonProtein feature loci*BPlociTotalLenStill interaction with


check button - Lost PPIs in in-frame fusion.
PartnerGeneHbpTbpENSTStrandBPexonTotalExonProtein feature loci*BPlociTotalLenInteraction lost with


check button - Retained PPIs, but lost function due to frame-shift fusion.
PartnerGeneHbpTbpENSTStrandBPexonTotalExonProtein feature loci*BPlociTotalLenInteraction lost with


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RelatedDrugs for RAD1_CA13


check button Drugs targeting genes involved in this fusion gene.
(DrugBank Version 5.1.0 2018-04-02)
PartnerGeneUniProtAccDrugBank IDDrug nameDrug activityDrug typeDrug status
TgeneCA13Q8N1Q1DB00909ZonisamideCarbonic anhydrase 13small moleculeapproved|investigational

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RelatedDiseases for RAD1_CA13


check button Diseases associated with fusion partners.
(DisGeNet 4.0)
PartnerGeneDisease IDDisease name# pubmedsSource