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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: 5536

FusionGeneSummary for CARD8_RPA1

check button Fusion gene summary
Fusion gene informationFusion gene name: CARD8_RPA1
Fusion gene ID: 5536
HgeneTgene
Gene symbol

CARD8

RPA1

Gene ID

22900

25885

Gene namecaspase recruitment domain family member 8RNA polymerase I subunit A
SynonymsCARDINAL|DACAR|DAKAR|NDPP|NDPP1|TUCANA190|AFDCIN|RPA1|RPA194|RPO1-4|RPO14
Cytomap

19q13.33

2p11.2

Type of geneprotein-codingprotein-coding
Descriptioncaspase recruitment domain-containing protein 8CARD inhibitor of NF-kappaB-activating ligandsapoptotic protein NDPP1tumor up-regulated CARD-containing antagonist of CASP9tumor up-regulated CARD-containing antagonist of caspase nineDNA-directed RNA polymerase I subunit RPA1DNA-directed RNA polymerase I largest subunitDNA-directed RNA polymerase I subunit ADNA-directed RNA polymerase I subunit A1RNA polymerase I 194 kDa subunitpolymerase (RNA) I polypeptide A, 194kDapolymerase
Modification date2018052320180523
UniProtAcc

Q9Y2G2

P27694

Ensembl transtripts involved in fusion geneENST00000520753, ENST00000521613, 
ENST00000519940, ENST00000519332, 
ENST00000520007, ENST00000600800, 
ENST00000357778, ENST00000391898, 
ENST00000359009, ENST00000447740, 
ENST00000520153, ENST00000520015, 
ENST00000522431, 		ENST00000254719, 
ENST00000573924, 
Fusion gene scores* DoF score7 X 7 X 4=1968 X 7 X 3=168
# samples 78
** MAII scorelog2(7/196*10)=-1.48542682717024
possibly effective Gene in Pan-Cancer Fusion Genes (peGinPCFGs).
DoF>8 and MAII<0		log2(8/168*10)=-1.0703893278914
possibly effective Gene in Pan-Cancer Fusion Genes (peGinPCFGs).
DoF>8 and MAII<0
Context

PubMed: CARD8 [Title/Abstract] AND RPA1 [Title/Abstract] AND fusion [Title/Abstract]

Functional or gene categories assigned by FusionGDB annotationDDR (DNA damage repair) gene involved fusion gene, retained protein feature but frameshift.
* 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
HgeneCARD8

GO:0031665

negative regulation of lipopolysaccharide-mediated signaling pathway

11821383

HgeneCARD8

GO:0043124

negative regulation of I-kappaB kinase/NF-kappaB signaling

11551959

HgeneCARD8

GO:0043280

positive regulation of cysteine-type endopeptidase activity involved in apoptotic process

11821383|15030775

HgeneCARD8

GO:0050713

negative regulation of interleukin-1 beta secretion

11821383

HgeneCARD8

GO:0050718

positive regulation of interleukin-1 beta secretion

15030775

HgeneCARD8

GO:0097340

inhibition of cysteine-type endopeptidase activity

11821383


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
ChiTaRS3.1DA884322CARD8chr19

48744218

-RPA1chr17

1746096

+
* 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
Frame-shiftENST00000520753ENST00000254719CARD8chr19

48744218

-RPA1chr17

1746096

+
5CDS-intronENST00000520753ENST00000573924CARD8chr19

48744218

-RPA1chr17

1746096

+
Frame-shiftENST00000521613ENST00000254719CARD8chr19

48744218

-RPA1chr17

1746096

+
5CDS-intronENST00000521613ENST00000573924CARD8chr19

48744218

-RPA1chr17

1746096

+
Frame-shiftENST00000519940ENST00000254719CARD8chr19

48744218

-RPA1chr17

1746096

+
5CDS-intronENST00000519940ENST00000573924CARD8chr19

48744218

-RPA1chr17

1746096

+
Frame-shiftENST00000519332ENST00000254719CARD8chr19

48744218

-RPA1chr17

1746096

+
5CDS-intronENST00000519332ENST00000573924CARD8chr19

48744218

-RPA1chr17

1746096

+
Frame-shiftENST00000520007ENST00000254719CARD8chr19

48744218

-RPA1chr17

1746096

+
5CDS-intronENST00000520007ENST00000573924CARD8chr19

48744218

-RPA1chr17

1746096

+
intron-3CDSENST00000600800ENST00000254719CARD8chr19

48744218

-RPA1chr17

1746096

+
intron-intronENST00000600800ENST00000573924CARD8chr19

48744218

-RPA1chr17

1746096

+
5UTR-3CDSENST00000357778ENST00000254719CARD8chr19

48744218

-RPA1chr17

1746096

+
5UTR-intronENST00000357778ENST00000573924CARD8chr19

48744218

-RPA1chr17

1746096

+
In-frameENST00000391898ENST00000254719CARD8chr19

48744218

-RPA1chr17

1746096

+
5CDS-intronENST00000391898ENST00000573924CARD8chr19

48744218

-RPA1chr17

1746096

+
5UTR-3CDSENST00000359009ENST00000254719CARD8chr19

48744218

-RPA1chr17

1746096

+
5UTR-intronENST00000359009ENST00000573924CARD8chr19

48744218

-RPA1chr17

1746096

+
In-frameENST00000447740ENST00000254719CARD8chr19

48744218

-RPA1chr17

1746096

+
5CDS-intronENST00000447740ENST00000573924CARD8chr19

48744218

-RPA1chr17

1746096

+
In-frameENST00000520153ENST00000254719CARD8chr19

48744218

-RPA1chr17

1746096

+
5CDS-intronENST00000520153ENST00000573924CARD8chr19

48744218

-RPA1chr17

1746096

+
In-frameENST00000520015ENST00000254719CARD8chr19

48744218

-RPA1chr17

1746096

+
5CDS-intronENST00000520015ENST00000573924CARD8chr19

48744218

-RPA1chr17

1746096

+
In-frameENST00000522431ENST00000254719CARD8chr19

48744218

-RPA1chr17

1746096

+
5CDS-intronENST00000522431ENST00000573924CARD8chr19

48744218

-RPA1chr17

1746096

+

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FusionProtFeatures for CARD8_RPA1


check buttonMain function of each fusion partner protein. (from UniProt)
HgeneTgene
CARD8

Q9Y2G2

RPA1

P27694

Inhibits NF-kappa-B activation. May participate in aregulatory mechanism that coordinates cellular responsescontrolled by NF-kappa-B transcription factor. May be a componentof the inflammasome, a protein complex which also includes PYCARD,NALP2 and CASP1 and whose function would be the activation ofproinflammatory caspases. 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 (PubMed:27723720, PubMed:27723717). Thereby, it playsan essential role both in DNA replication and the cellularresponse to DNA damage (PubMed:9430682). In the cellular responseto DNA damage, the RPA complex controls DNA repair and DNA damagecheckpoint activation. Through recruitment of ATRIP activates theATR kinase a master regulator of the DNA damage response(PubMed:24332808). It is required for the recruitment of the DNAdouble-strand break repair factors RAD51 and RAD52 to chromatin inresponse to DNA damage (PubMed:17765923). Also recruits to sitesof DNA damage proteins like XPA and XPG that are involved innucleotide excision repair and is required for this mechanism ofDNA repair (PubMed:7697716). Plays also a role in base excisionrepair (BER) probably through interaction with UNG(PubMed:9765279). Also recruits SMARCAL1/HARP, which is involvedin replication fork restart, to sites of DNA damage. May also playa role in telomere maintenance (PubMed:17959650). As part of thealternative replication protein A complex, aRPA, binds single-stranded DNA and probably plays a role in DNA repair. Compared tothe RPA2-containing, canonical RPA complex, may not supportchromosomal DNA replication and cell cycle progression through S-phase. The aRPA may not promote efficient priming by DNApolymerase alpha but could support DNA synthesis by polymerasedelta in presence of PCNA and replication factor C (RFC), the dualincision/excision reaction of nucleotide excision repair andRAD51-dependent strand exchange (PubMed:19996105).{ECO:0000269|PubMed:12791985, ECO:0000269|PubMed:17765923,ECO:0000269|PubMed:17959650, ECO:0000269|PubMed:19116208,ECO:0000269|PubMed:19996105, ECO:0000269|PubMed:24332808,ECO:0000269|PubMed:27723717, ECO:0000269|PubMed:27723720,ECO:0000269|PubMed:7697716, ECO:0000269|PubMed:7700386,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 CARD8_RPA1


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 CARD8_RPA1


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
CARD8CARD6, IKBKG, ELAVL1, FLNA, FLNC, CSRP2BP, DMAP1, BRCA2, YEATS2, TAB1, BCOR, CEP192, NFRKB, SRCAP, ZZZ3, ZNF318, LRIF1, MGA, MBIP, SETX, ZNHIT6, ATXN2, SALL2, ACTR6, TADA2A, PEAK1, VPS72, CHD8, WDR74, HDAC3, E2F6, TAB2, DPH1, HOXA5, MAP3K7, HOXD13, NPRL3, C15orf39, USP54, LHX6, PCGF6, CCDC101, LRCH2, TADA3RPA1MCM2, MCM7, ORC2, BRCA2, TP53, BLM, ATR, TP53BP1, FANCA, TIPIN, KIN, ORC6, MCM4, MCM6, TCEA2, ASCC2, CPE, AKTIP, HGH1, RBM23, SELENBP1, RPA2, PRKDC, ATRIP, RPA4, RPA3, MUTYH, RAD52, RAD51, MSH4, XPA, RPA1, PCNA, RAD9A, RAD1, HUS1, CCNA2, FANCM, ATG101, FYCO1, RB1CC1, CHAF1A, CHD1L, PRIM1, MCPH1, HNRNPUL1, BRCA1, TOPBP1, BRIP1, TOP3A, FANCG, POLK, RFWD3, CENPA, DYRK2, CSNK2B, TK1, ANXA1, RCC1, ANXA7, GTF2H1, HDGF, PSMD4, RNF4, ARRB2, SH3KBP1, CDK1, CDK2, CCNA1, CCNB1, BID, POLR2A, ERCC6, HERC2, NEURL4, SPRTN, SMARCAL1, MCM3, SMC2, XPC, RAD23B, POLD1, UBXN1, MSH3, PPME1, PAXIP1, FN1, ATM, AICDA, PAN2, HAX1, VIM, SMAD3, RPS6KA5, GNB5, FBXO6, AARSD1, FUBP1, GRPEL1, ACTR2, ACTR3, ANP32B, ARPC2, ARPC4, CALR, NSUN2, PFDN5, PPP1R12A, PUS1, RPRD1B, SH3GL1, EXO5, PARP1, HNRNPM, MYH9, PARP14, LIG3, FBXO18, DHX36, DNA2, XRCC1, HLTF, XRN2, HNRNPD, XRCC6, GTF2I, MYH10, IQGAP1, CDKN2AIP, SFPQ, RMI1, MSI2, RTEL1, XRCC5, TIAL1, WRN, FUS, MPG, TARDBP, HNRNPA0, UNG, PARP9, HNRNPA2B1, ANXA2P2, PURB, GAPDH, PNKP, MSH2, RFC5, RBM4, NPM1, RBFOX2, FLNA, EIF2S1, ACTB, HNRNPA1, NUDT21, HNRNPAB, KCNAB2, YTHDF1, XRN1, YTHDF3, SNRNP200, NONO, INTS6, C14orf166, ELAVL1, CSNK1A1, CUL1, RBM14, DTX3L, FUBP3, RFC4, HNRNPU, RPLP0, RAVER1, ACTA2, PTBP1, EWSR1, PRDX1, IMPDH2, PARP12, RNASEH1, SLFN11, RAB11B, RPL7, EEF1A2, RAB13, SERPINB12, ANXA2, NTHL1, TAF15, NTPCR, DAZAP1, EEF1A1, YTHDF2, CELF1, ESRP2, HNRNPDL, MATR3, SF3B1, TUBB4B, DHX15, TUBA4A, ACTBL2, HNRNPA3, KHDRBS1, RAB5C, HSPB1, SNRPB, TUBA1C, APEX1, MYH11, DDX5, PRPF6, DDX17, RPS9, RAB7A, SEC22B, RAB1A, TUBB, RPS7, CAPZA1, EMG1, RAB8A, RAI14, HNRNPK, PDS5A, LMO7, RBM27, SF3B2, NCL, RPL13A, RPS5, LDHA, PPP1CC, RFC2, EFTUD2, SF3A1, MPRIP, CHTF18, RBM25, ILF3, SF3B3, RBM26, SPTAN1, BCAP31, MNAT1, DDX3X, BCAS2, MDC1, RAB35, RBM39, RPL19, RPL9, BUB3, RPS8, CSNK1A1L, RAB10, TMEM33, MYO1C, DSP, PRPF8, TOP2B, PABPC1, TCOF1, TFRC, MYO1E, RBM15, PRPF40A, SKIV2L2, MYOF, PPP1R10, SMC3, INTS3, THOC2, RAD50, SYMPK, CLTC, KIAA0196, TRIM28, ARHGEF2, HNRNPR, LIMCH1, ALPP, CDC5L, CKAP5, RPL6, SMC1A, HSPA8, CCAR2, LIMA1, LMAN2, MYO1B, WDR82, ADAR, FKBP15, HNRNPL, ILF2, MOV10, RFC1, SPTBN1, THOC6, AHNAK, PRRC2A, CHD4, DHX9, HSPA5, KDM1A, MRE11A, MTHFD1, NAPA, SYNCRIP, TOP2A, DDX23, DNTTIP1, LOC442497, SCAMP3, U2SURP, TSR1, WDR3, ADD1, CAPRIN1, CCNH, CPSF7, EXOSC10, GTF2H3, MAP4, NBN, POLA1, PSIP1, RAB2A, RFC3, RPL18A, SNRNP40, SRBD1, TAGLN2, TMPO, TPX2, AP1B1, BAG2, BBX, ELMSAN1, CALD1, CANX, CDK7, COPA, CSNK2A2, DDX46, EGFR, ERGIC1, GEMIN5, GTF3C2, PKP3, POLR1B, POLR2E, RALY, SMC4, STRBP, THOC7, TRIP12, WDR33, ATP6V0D1, C7orf50, CAV1, CLINT1, COBL, CPSF1, CTTN, DDB1, DDX1, DIDO1, DNAJC9, EDC4, EIF2S2, ESYT1, HCFC1, INTS1, MORF4L2, PCF11, PPP2CA, RAB14, RAB6B, RPL15, RPS7P4, SMARCA5, THOC1, TPM2, UBC, ZNF638, AKAP8, AP2A1, AP2A2, AP2B1, ARG1, CHERP, EPRS, EXOSC7, EXOSC8, FBL, GEMIN4, HNRNPCL1, HNRNPF, HNRNPH1, ITGB1, KIAA1033, MED4, MYO1F, NIPBL, NUMA1, PABPC4, PELP1, PGRMC1, PRPF19, RAB6A, RAD21, RBM10, RPL10L, RPL13P12, RPL18, RPRD2, RPS3A, RTN4, RUVBL2, SEH1L, SCAF4, SMARCC2, TCERG1, TERF2, TEX10, USP7, WAPAL, WDHD1, ZCCHC8, ZFR, ZNF598, TRIM25, ATRX, APITD1, STRA13, MTUS2, CUL7, CCDC8, RNF2, LUZP4, RPAIN, LTN1, CORO1C, LMNA, LMNB1, TFAM, NTRK1, CEP162, TOP3B, KIF3A, PROSC, DROSHA, OBSCN, SLX4, NF2, USP37, SHFM1, SNW1, NFATC1, NFATC2, DERL1, EYA1, MACROD1, RBM3, POLL, ERCC1, HELQ, FANCD2, SPTA1, DLD, PDHA1, CCND2, UHRF2


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 CARD8_RPA1


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 CARD8_RPA1


check button Diseases associated with fusion partners.
(DisGeNet 4.0)
PartnerGeneDisease IDDisease name# pubmedsSource
HgeneCARD8C0018099Gout1CTD_human
HgeneCARD8C0028797Occupational Diseases1CTD_human
HgeneCARD8C0032226Pleural Diseases1CTD_human
TgeneRPA1C0263454Chloracne1CTD_human