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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: 31735

FusionGeneSummary for RPA2_SERPING1

check button Fusion gene summary
Fusion gene informationFusion gene name: RPA2_SERPING1
Fusion gene ID: 31735
HgeneTgene
Gene symbol

RPA2

SERPING1

Gene ID

84172

710

Gene nameRNA polymerase I subunit Bserpin family G member 1
SynonymsRPA135|RPA2|Rpo1-2C1IN|C1INH|C1NH|HAE1|HAE2
Cytomap

2q14.1

11q12.1

Type of geneprotein-codingprotein-coding
DescriptionDNA-directed RNA polymerase I subunit RPA2DNA-directed RNA polymerase I 135 kDa polypeptideDNA-directed RNA polymerase I 135kDa polypeptideRNA polymerase I subunit 2polymerase (RNA) I polypeptide B, 128kDapolymerase (RNA) I subunit Bplasma protease C1 inhibitorC1 esterase inhibitorC1-inhibiting factorcomplement component 1 inhibitorserine/cysteine proteinase inhibitor clade G member 1serpin G1serpin peptidase inhibitor clade G member 1serpin peptidase inhibitor, clade G (C1 in
Modification date2018052320180523
UniProtAcc

P15927

P05155

Ensembl transtripts involved in fusion geneENST00000373912, ENST00000373909, 
ENST00000313433, 
ENST00000278407, 
ENST00000340687, ENST00000378323, 
ENST00000378324, ENST00000403558, 
ENST00000531605, 
Fusion gene scores* DoF score2 X 2 X 1=46 X 6 X 2=72
# samples 27
** MAII scorelog2(2/4*10)=2.32192809488736log2(7/72*10)=-0.0406419844973459
possibly effective Gene in Pan-Cancer Fusion Genes (peGinPCFGs).
DoF>8 and MAII<0
Context

PubMed: RPA2 [Title/Abstract] AND SERPING1 [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
TgeneSERPING1

GO:0001869

negative regulation of complement activation, lectin pathway

10946292


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
ChiTaRS3.1CA309301RPA2chr1

28218257

+SERPING1chr11

57374011

-
* 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-3CDSENST00000373912ENST00000278407RPA2chr1

28218257

+SERPING1chr11

57374011

-
intron-3CDSENST00000373912ENST00000340687RPA2chr1

28218257

+SERPING1chr11

57374011

-
intron-3CDSENST00000373912ENST00000378323RPA2chr1

28218257

+SERPING1chr11

57374011

-
intron-3CDSENST00000373912ENST00000378324RPA2chr1

28218257

+SERPING1chr11

57374011

-
intron-3CDSENST00000373912ENST00000403558RPA2chr1

28218257

+SERPING1chr11

57374011

-
intron-intronENST00000373912ENST00000531605RPA2chr1

28218257

+SERPING1chr11

57374011

-
intron-3CDSENST00000373909ENST00000278407RPA2chr1

28218257

+SERPING1chr11

57374011

-
intron-3CDSENST00000373909ENST00000340687RPA2chr1

28218257

+SERPING1chr11

57374011

-
intron-3CDSENST00000373909ENST00000378323RPA2chr1

28218257

+SERPING1chr11

57374011

-
intron-3CDSENST00000373909ENST00000378324RPA2chr1

28218257

+SERPING1chr11

57374011

-
intron-3CDSENST00000373909ENST00000403558RPA2chr1

28218257

+SERPING1chr11

57374011

-
intron-intronENST00000373909ENST00000531605RPA2chr1

28218257

+SERPING1chr11

57374011

-
intron-3CDSENST00000313433ENST00000278407RPA2chr1

28218257

+SERPING1chr11

57374011

-
intron-3CDSENST00000313433ENST00000340687RPA2chr1

28218257

+SERPING1chr11

57374011

-
intron-3CDSENST00000313433ENST00000378323RPA2chr1

28218257

+SERPING1chr11

57374011

-
intron-3CDSENST00000313433ENST00000378324RPA2chr1

28218257

+SERPING1chr11

57374011

-
intron-3CDSENST00000313433ENST00000403558RPA2chr1

28218257

+SERPING1chr11

57374011

-
intron-intronENST00000313433ENST00000531605RPA2chr1

28218257

+SERPING1chr11

57374011

-

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FusionProtFeatures for RPA2_SERPING1


check buttonMain function of each fusion partner protein. (from UniProt)
HgeneTgene
RPA2

P15927

SERPING1

P05155

As part of the heterotrimeric replication protein Acomplex (RPA/RP-A), binds and stabilizes single-stranded DNAintermediates, that form during DNA replication or upon DNAstress. It prevents their reannealing and in parallel, recruitsand activates different proteins and complexes involved in DNAmetabolism. Thereby, it plays an essential role both in DNAreplication and the cellular response to DNA damage. In thecellular response to DNA damage, the RPA complex controls DNArepair and DNA damage checkpoint activation. Through recruitmentof ATRIP activates the ATR kinase a master regulator of the DNAdamage response. It is required for the recruitment of the DNAdouble-strand break repair factors RAD51 and RAD52 to chromatin inresponse to DNA damage. Also recruits to sites of DNA damageproteins like XPA and XPG that are involved in nucleotide excisionrepair and is required for this mechanism of DNA repair. Playsalso a role in base excision repair (BER) probably throughinteraction with UNG. Also recruits SMARCAL1/HARP, which isinvolved in replication fork restart, to sites of DNA damage. Mayalso play a role in telomere maintenance.{ECO:0000269|PubMed:15205463, ECO:0000269|PubMed:17765923,ECO:0000269|PubMed:17959650, ECO:0000269|PubMed:19116208,ECO:0000269|PubMed:20154705, ECO:0000269|PubMed:21504906,ECO:0000269|PubMed:2406247, ECO:0000269|PubMed:24332808,ECO:0000269|PubMed:7697716, ECO:0000269|PubMed:7700386,ECO:0000269|PubMed:8702565, ECO:0000269|PubMed:9430682,ECO:0000269|PubMed:9765279}.

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 RPA2_SERPING1


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 RPA2_SERPING1


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 RPA2_SERPING1


check button Drugs targeting genes involved in this fusion gene.
(DrugBank Version 5.1.0 2018-04-02)
PartnerGeneUniProtAccDrugBank IDDrug nameDrug activityDrug typeDrug status

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RelatedDiseases for RPA2_SERPING1


check button Diseases associated with fusion partners.
(DisGeNet 4.0)
PartnerGeneDisease IDDisease name# pubmedsSource
TgeneSERPING1C2717906Hereditary Angioedema Type I10ORPHANET;UNIPROT
TgeneSERPING1C0019243Angioedemas, Hereditary6CTD_human
TgeneSERPING1C2717905Hereditary Angioedema Types I and II3CTD_human
TgeneSERPING1C2931758Acquired angioedema2CTD_human
TgeneSERPING1C0021400Influenza1CTD_human
TgeneSERPING1C0023890Liver Cirrhosis1CTD_human
TgeneSERPING1C0024143Lupus Nephritis1CTD_human
TgeneSERPING1C4277682Chemical and Drug Induced Liver Injury1CTD_human