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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: 31443

FusionGeneSummary for RNF144B_PPP3CA

check button Fusion gene summary
Fusion gene informationFusion gene name: RNF144B_PPP3CA
Fusion gene ID: 31443
HgeneTgene
Gene symbol

RNF144B

PPP3CA

Gene ID

255488

5530

Gene namering finger protein 144Bprotein phosphatase 3 catalytic subunit alpha
SynonymsIBRDC2|PIR2|bA528A10.3|p53RFPCALN|CALNA|CALNA1|CCN1|CNA1|IECEE|IECEE1|PPP2B
Cytomap

6p22.3

4q24

Type of geneprotein-codingprotein-coding
DescriptionE3 ubiquitin-protein ligase RNF144BIBR domain containing 2IBR domain-containing protein 2p53-inducible RING finger proteinserine/threonine-protein phosphatase 2B catalytic subunit alpha isoformCAM-PRP catalytic subunitcalcineurin A alphacalmodulin-dependent calcineurin A subunit alpha isoformprotein phosphatase 2B, catalytic subunit, alpha isoformprotein phosphatase 3 (
Modification date2018052320180523
UniProtAcc

Q7Z419

Q08209

Ensembl transtripts involved in fusion geneENST00000429054, ENST00000259939, 
ENST00000486622, 
ENST00000512215, 
ENST00000394854, ENST00000323055, 
ENST00000394853, ENST00000507176, 
ENST00000523694, ENST00000510292, 
Fusion gene scores* DoF score4 X 2 X 4=328 X 5 X 3=120
# samples 48
** MAII scorelog2(4/32*10)=0.321928094887362
effective Gene in Pan-Cancer Fusion Genes (eGinPCFGs).
DoF>8 and MAII>0
log2(8/120*10)=-0.584962500721156
possibly effective Gene in Pan-Cancer Fusion Genes (peGinPCFGs).
DoF>8 and MAII<0
Context

PubMed: RNF144B [Title/Abstract] AND PPP3CA [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
HgeneRNF144B

GO:0006511

ubiquitin-dependent protein catabolic process

12853982

HgeneRNF144B

GO:0043066

negative regulation of apoptotic process

20300062

TgenePPP3CA

GO:0006470

protein dephosphorylation

18815128|19154138

TgenePPP3CA

GO:0033173

calcineurin-NFAT signaling cascade

19154138|22688515

TgenePPP3CA

GO:0035690

cellular response to drug

11005320

TgenePPP3CA

GO:0045944

positive regulation of transcription by RNA polymerase II

22688515

TgenePPP3CA

GO:0051592

response to calcium ion

18815128


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
TCGARVPRADTCGA-HC-7209-01ARNF144Bchr6

18399930

+PPP3CAchr4

102117273

-
* 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-3CDSENST00000429054ENST00000512215RNF144Bchr6

18399930

+PPP3CAchr4

102117273

-
intron-3CDSENST00000429054ENST00000394854RNF144Bchr6

18399930

+PPP3CAchr4

102117273

-
intron-3CDSENST00000429054ENST00000323055RNF144Bchr6

18399930

+PPP3CAchr4

102117273

-
intron-3CDSENST00000429054ENST00000394853RNF144Bchr6

18399930

+PPP3CAchr4

102117273

-
intron-intronENST00000429054ENST00000507176RNF144Bchr6

18399930

+PPP3CAchr4

102117273

-
intron-intronENST00000429054ENST00000523694RNF144Bchr6

18399930

+PPP3CAchr4

102117273

-
intron-intronENST00000429054ENST00000510292RNF144Bchr6

18399930

+PPP3CAchr4

102117273

-
Frame-shiftENST00000259939ENST00000512215RNF144Bchr6

18399930

+PPP3CAchr4

102117273

-
Frame-shiftENST00000259939ENST00000394854RNF144Bchr6

18399930

+PPP3CAchr4

102117273

-
Frame-shiftENST00000259939ENST00000323055RNF144Bchr6

18399930

+PPP3CAchr4

102117273

-
Frame-shiftENST00000259939ENST00000394853RNF144Bchr6

18399930

+PPP3CAchr4

102117273

-
5CDS-intronENST00000259939ENST00000507176RNF144Bchr6

18399930

+PPP3CAchr4

102117273

-
5CDS-intronENST00000259939ENST00000523694RNF144Bchr6

18399930

+PPP3CAchr4

102117273

-
5CDS-intronENST00000259939ENST00000510292RNF144Bchr6

18399930

+PPP3CAchr4

102117273

-
3UTR-3CDSENST00000486622ENST00000512215RNF144Bchr6

18399930

+PPP3CAchr4

102117273

-
3UTR-3CDSENST00000486622ENST00000394854RNF144Bchr6

18399930

+PPP3CAchr4

102117273

-
3UTR-3CDSENST00000486622ENST00000323055RNF144Bchr6

18399930

+PPP3CAchr4

102117273

-
3UTR-3CDSENST00000486622ENST00000394853RNF144Bchr6

18399930

+PPP3CAchr4

102117273

-
3UTR-intronENST00000486622ENST00000507176RNF144Bchr6

18399930

+PPP3CAchr4

102117273

-
3UTR-intronENST00000486622ENST00000523694RNF144Bchr6

18399930

+PPP3CAchr4

102117273

-
3UTR-intronENST00000486622ENST00000510292RNF144Bchr6

18399930

+PPP3CAchr4

102117273

-

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FusionProtFeatures for RNF144B_PPP3CA


check buttonMain function of each fusion partner protein. (from UniProt)
HgeneTgene
RNF144B

Q7Z419

PPP3CA

Q08209

E3 ubiquitin-protein ligase which accepts ubiquitin fromE2 ubiquitin-conjugating enzymes UBE2L3 and UBE2L6 in the form ofa thioester and then directly transfers the ubiquitin to targetedsubstrates such as LCMT2, thereby promoting their degradation.Induces apoptosis via a p53/TP53-dependent but caspase-independentmechanism. However, its overexpression also produces a decrease ofthe ubiquitin-dependent stability of BAX, a pro-apoptotic protein,ultimately leading to protection of cell death; But, it is not ananti-apoptotic protein per se. {ECO:0000269|PubMed:12853982,ECO:0000269|PubMed:20300062}. Calcium-dependent, calmodulin-stimulated proteinphosphatase which plays an essential role in the transduction ofintracellular Ca(2+)-mediated signals (PubMed:15671020,PubMed:18838687, PubMed:19154138, PubMed:23468591). Many of thesubstrates contain a PxIxIT motif and/or a LxVP motif(PubMed:17498738, PubMed:17502104, PubMed:23468591,PubMed:27974827, PubMed:22343722). In response to increased Ca(2+)levels, dephosphorylates and activates phosphatase SSH1 whichresults in cofilin dephosphorylation (PubMed:15671020). Inresponse to increased Ca(2+) levels following mitochondrialdepolarization, dephosphorylates DNM1L inducing DNM1Ltranslocation to the mitochondrion (PubMed:18838687).Dephosphorylates heat shock protein HSPB1 (By similarity).Dephosphorylates and activates transcription factor NFATC1(PubMed:19154138). In response to increased Ca(2+) levels,regulates NFAT-mediated transcription probably bydephosphorylating NFAT and promoting its nuclear translocation(PubMed:26248042). Dephosphorylates and inactivates transcriptionfactor ELK1 (PubMed:19154138). Dephosphorylates DARPP32(PubMed:19154138). {ECO:0000250|UniProtKB:P48452,ECO:0000269|PubMed:15671020, ECO:0000269|PubMed:17498738,ECO:0000269|PubMed:17502104, ECO:0000269|PubMed:18838687,ECO:0000269|PubMed:19154138, ECO:0000269|PubMed:22343722,ECO:0000269|PubMed:23468591, ECO:0000269|PubMed:26248042,ECO:0000269|PubMed:27974827}.

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 RNF144B_PPP3CA


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 RNF144B_PPP3CA


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
RNF144BUBE2L6, UBE2U, UBE2Z, UBE2L3, UBE2I, UBE2T, CDKN1A, BAX, ELAVL1, USP2, USP15, PAN2, TP63, SHMT2, MOV10, NXF1PPP3CAC16orf74, PPIA, RCAN1, ADRB2, RCAN2, AKAP5, BCL2, CABIN1, MYOZ2, MYOZ1, IRF2, GRB2, AKT1, PHLPP2, PTEN, PSMA6, PDE4D, KCNIP3, TRAF3, PPP3R1, MRI1, RHOC, MAPK7, HNRNPH1, P3H1, SETSIP, MAT2B, NASP, NRD1, PDIA6, PFDN5, PPP2R2A, TNPO3, TNPO1, TSN, VBP1, XPO5, MARCH7, CEP76, TP53, VCP, JUN, FAM122A, RASSF2, PDHB, RCAN3, NFATC4, SIK3, ARFIP1, C6orf211, PSMD9, CRTC2, LBH, NCAPG, TUBA1B, DEFA1, TMEM200A, SMPD3, NFATC1, KLRG2, AATK, FGFR4, RYK, PTK7


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 RNF144B_PPP3CA


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 RNF144B_PPP3CA


check button Diseases associated with fusion partners.
(DisGeNet 4.0)
PartnerGeneDisease IDDisease name# pubmedsSource
TgenePPP3CAC0019202Hepatolenticular Degeneration1CTD_human
TgenePPP3CAC0030305Pancreatitis1CTD_human
TgenePPP3CAC0033578Prostatic Neoplasms1CTD_human
TgenePPP3CAC0039584Testicular Diseases1CTD_human
TgenePPP3CAC0149721Left Ventricular Hypertrophy1CTD_human
TgenePPP3CAC0152013Adenocarcinoma of lung (disorder)1CTD_human