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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: 14823

FusionGeneSummary for GNA12_URI1

check button Fusion gene summary
Fusion gene informationFusion gene name: GNA12_URI1
Fusion gene ID: 14823
HgeneTgene
Gene symbol

GNA12

URI1

Gene ID

2768

8725

Gene nameG protein subunit alpha 12URI1, prefoldin like chaperone
SynonymsNNX3|RMP|gepC19orf2|NNX3|PPP1R19|RMP|URI
Cytomap

7p22.3-p22.2

19q12

Type of geneprotein-codingprotein-coding
Descriptionguanine nucleotide-binding protein subunit alpha-12WUGSC:H_GS165O14.2g alpha-12guanine nucleotide binding protein (G protein) alpha 12unconventional prefoldin RPB5 interactor 1RNA polymerase II subunit 5-mediating proteinRPB5-mediating proteinprotein phosphatase 1, regulatory subunit 19
Modification date2018052320180523
UniProtAcc

Q03113

O94763

Ensembl transtripts involved in fusion geneENST00000275364, ENST00000544127, 
ENST00000491117, ENST00000407904, 
ENST00000407653, ENST00000396960, 
ENST00000360605, ENST00000542441, 
ENST00000392271, ENST00000312051, 
ENST00000574176, 
Fusion gene scores* DoF score7 X 2 X 4=564 X 5 X 4=80
# samples 75
** MAII scorelog2(7/56*10)=0.321928094887362
effective Gene in Pan-Cancer Fusion Genes (eGinPCFGs).
DoF>8 and MAII>0		log2(5/80*10)=-0.678071905112638
possibly effective Gene in Pan-Cancer Fusion Genes (peGinPCFGs).
DoF>8 and MAII<0
Context

PubMed: GNA12 [Title/Abstract] AND URI1 [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
TgeneURI1

GO:0000122

negative regulation of transcription by RNA polymerase II

12737519|15367675|21730289

TgeneURI1

GO:0001558

regulation of cell growth

21730289

TgeneURI1

GO:0071363

cellular response to growth factor stimulus

17936702

TgeneURI1

GO:0071383

cellular response to steroid hormone stimulus

21730289


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
TCGALDBLCATCGA-BT-A2LD-01AGNA12chr7

2834562

-URI1chr19

30506443

+
* 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-shiftENST00000275364ENST00000360605GNA12chr7

2834562

-URI1chr19

30506443

+
5CDS-3UTRENST00000275364ENST00000542441GNA12chr7

2834562

-URI1chr19

30506443

+
5CDS-3UTRENST00000275364ENST00000392271GNA12chr7

2834562

-URI1chr19

30506443

+
5CDS-3UTRENST00000275364ENST00000312051GNA12chr7

2834562

-URI1chr19

30506443

+
5CDS-intronENST00000275364ENST00000574176GNA12chr7

2834562

-URI1chr19

30506443

+
Frame-shiftENST00000544127ENST00000360605GNA12chr7

2834562

-URI1chr19

30506443

+
5CDS-3UTRENST00000544127ENST00000542441GNA12chr7

2834562

-URI1chr19

30506443

+
5CDS-3UTRENST00000544127ENST00000392271GNA12chr7

2834562

-URI1chr19

30506443

+
5CDS-3UTRENST00000544127ENST00000312051GNA12chr7

2834562

-URI1chr19

30506443

+
5CDS-intronENST00000544127ENST00000574176GNA12chr7

2834562

-URI1chr19

30506443

+
intron-3CDSENST00000491117ENST00000360605GNA12chr7

2834562

-URI1chr19

30506443

+
intron-3UTRENST00000491117ENST00000542441GNA12chr7

2834562

-URI1chr19

30506443

+
intron-3UTRENST00000491117ENST00000392271GNA12chr7

2834562

-URI1chr19

30506443

+
intron-3UTRENST00000491117ENST00000312051GNA12chr7

2834562

-URI1chr19

30506443

+
intron-intronENST00000491117ENST00000574176GNA12chr7

2834562

-URI1chr19

30506443

+
Frame-shiftENST00000407904ENST00000360605GNA12chr7

2834562

-URI1chr19

30506443

+
5CDS-3UTRENST00000407904ENST00000542441GNA12chr7

2834562

-URI1chr19

30506443

+
5CDS-3UTRENST00000407904ENST00000392271GNA12chr7

2834562

-URI1chr19

30506443

+
5CDS-3UTRENST00000407904ENST00000312051GNA12chr7

2834562

-URI1chr19

30506443

+
5CDS-intronENST00000407904ENST00000574176GNA12chr7

2834562

-URI1chr19

30506443

+
intron-3CDSENST00000407653ENST00000360605GNA12chr7

2834562

-URI1chr19

30506443

+
intron-3UTRENST00000407653ENST00000542441GNA12chr7

2834562

-URI1chr19

30506443

+
intron-3UTRENST00000407653ENST00000392271GNA12chr7

2834562

-URI1chr19

30506443

+
intron-3UTRENST00000407653ENST00000312051GNA12chr7

2834562

-URI1chr19

30506443

+
intron-intronENST00000407653ENST00000574176GNA12chr7

2834562

-URI1chr19

30506443

+
intron-3CDSENST00000396960ENST00000360605GNA12chr7

2834562

-URI1chr19

30506443

+
intron-3UTRENST00000396960ENST00000542441GNA12chr7

2834562

-URI1chr19

30506443

+
intron-3UTRENST00000396960ENST00000392271GNA12chr7

2834562

-URI1chr19

30506443

+
intron-3UTRENST00000396960ENST00000312051GNA12chr7

2834562

-URI1chr19

30506443

+
intron-intronENST00000396960ENST00000574176GNA12chr7

2834562

-URI1chr19

30506443

+

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FusionProtFeatures for GNA12_URI1


check buttonMain function of each fusion partner protein. (from UniProt)
HgeneTgene
GNA12

Q03113

URI1

O94763

Involved in gene transcription regulation. Acts as atranscriptional repressor in concert with the corepressor UXT toregulate androgen receptor (AR) transcription. May act as a tumorsuppressor to repress AR-mediated gene transcription and toinhibit anchorage-independent growth in prostate cancer cells.Required for cell survival in ovarian cancer cells. Together withUXT, associates with chromatin to the NKX3-1 promoter region.Antagonizes transcriptional modulation via hepatitis B virus Xprotein. Plays a central role in maintaining S6K1 signaling andBAD phosphorylation under normal growth conditions therebyprotecting cells from potential deleterious effects of sustainedS6K1 signaling. The URI1-PPP1CC complex acts as a centralcomponent of a negative feedback mechanism that counteractsexcessive S6K1 survival signaling to BAD in response to growthfactors. Mediates inhibition of PPP1CC phosphatase activity inmitochondria. Coordinates the regulation of nutrient-sensitivegene expression availability in a mTOR-dependent manner. Seems tobe a scaffolding protein able to assemble a prefoldin-like complexthat contains PFDs and proteins with roles in transcription andubiquitination.

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 GNA12_URI1


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 GNA12_URI1


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
GNA12CDH15, CDH1, CDH2, AKAP13, ARHGEF1, DRD5, PPP5C, S1PR4, PRKCB, PRKCE, PRKCD, ARHGEF12, TEC, F2R, TBXA2R, HSP90AA1, ARHGEF11, MAP3K5, ARHGEF28, PCK1, LRRK2, APP, IL3RA, GNB3, ARAF, GNAS, CDC73URI1DMAP1, URI1, POLR2E, RPAP2, RPAP3, RUVBL2, GPN1, UXT, APP, HSP90AA1, PPP1CC, RPS6KB1, RUVBL1, TTI1, ATF7, ITCH, NEDD4, PIH1D1, PPP1CA, SCP2, SKAP1, PPP1R3A, PDRG1, BLM, KRAS, HERC2, OFD1, NPHP1, XPO1, PPP1CB, POLR1A, POLR3E, PPEF2, ASB7, PFDN2, ZBBX, PPP1R7, ZNHIT2, TBC1D7, TSC1, POLR1C, POLR2A, POLR2B, POLR3A, POLR3B, PRPF8, TANGO6, WDR92, LMNA, PFDN6, PKP3, POLR3D, YWHAB, POLR2H, GPN3, MAT2A, RPL12P2, SUPT6H, KRT18, PCBP2, NOP58, PPP2CB, TRIM28, NOC4L, ZC3HAV1, RPRD1B, POLR1D, DNAJA2, PFDN5, PPP2R1A, PPP2CA


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 GNA12_URI1


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 GNA12_URI1


check button Diseases associated with fusion partners.
(DisGeNet 4.0)
PartnerGeneDisease IDDisease name# pubmedsSource
HgeneGNA12C0009324Ulcerative Colitis1CTD_human
HgeneGNA12C0033975Psychotic Disorders1PSYGENET
HgeneGNA12C0151744Myocardial Ischemia1CTD_human
HgeneGNA12C0349204Nonorganic psychosis1PSYGENET
TgeneURI1C0027659Neoplasms, Experimental1CTD_human
TgeneURI1C0919267ovarian neoplasm1CTD_human