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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: 28357

FusionGeneSummary for PPP1R1B_RAB12

check button Fusion gene summary
Fusion gene informationFusion gene name: PPP1R1B_RAB12
Fusion gene ID: 28357
HgeneTgene
Gene symbol

PPP1R1B

RAB12

Gene ID

84152

201475

Gene nameprotein phosphatase 1 regulatory inhibitor subunit 1BRAB12, member RAS oncogene family
SynonymsDARPP-32|DARPP32-
Cytomap

17q12

18p11.22

Type of geneprotein-codingprotein-coding
Descriptionprotein phosphatase 1 regulatory subunit 1Bdopamine and cAMP-regulated neuronal phosphoprotein 32ras-related protein Rab-12putative Ras-related protein Rab-12
Modification date2018052720180523
UniProtAcc

Q9UD71

Q6IQ22

Ensembl transtripts involved in fusion geneENST00000580825, ENST00000254079, 
ENST00000579000, ENST00000394265, 
ENST00000394267, 
ENST00000329286, 
Fusion gene scores* DoF score5 X 4 X 4=805 X 4 X 4=80
# samples 55
** MAII scorelog2(5/80*10)=-0.678071905112638
possibly effective Gene in Pan-Cancer Fusion Genes (peGinPCFGs).
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: PPP1R1B [Title/Abstract] AND RAB12 [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
HgenePPP1R1B

GO:0032515

negative regulation of phosphoprotein phosphatase activity

10807923


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
ChiTaRS3.1BE082820PPP1R1Bchr17

37790157

-RAB12chr18

8633367

+
* 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
5CDS-intronENST00000580825ENST00000329286PPP1R1Bchr17

37790157

-RAB12chr18

8633367

+
5CDS-intronENST00000254079ENST00000329286PPP1R1Bchr17

37790157

-RAB12chr18

8633367

+
5CDS-intronENST00000579000ENST00000329286PPP1R1Bchr17

37790157

-RAB12chr18

8633367

+
5CDS-intronENST00000394265ENST00000329286PPP1R1Bchr17

37790157

-RAB12chr18

8633367

+
5CDS-intronENST00000394267ENST00000329286PPP1R1Bchr17

37790157

-RAB12chr18

8633367

+

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FusionProtFeatures for PPP1R1B_RAB12


check buttonMain function of each fusion partner protein. (from UniProt)
HgeneTgene
PPP1R1B

Q9UD71

RAB12

Q6IQ22

Inhibitor of protein-phosphatase 1. The small GTPases Rab are key regulators ofintracellular membrane trafficking, from the formation oftransport vesicles to their fusion with membranes. Rabs cyclebetween an inactive GDP-bound form and an active GTP-bound formthat is able to recruit to membranes different set of downstreameffectors directly responsible for vesicle formation, movement,tethering and fusion. That Rab may play a role in proteintransport from recycling endosomes to lysosomes regulating, forinstance, the degradation of the transferrin receptor. Involved inautophagy (By similarity). {ECO:0000250}.

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 PPP1R1B_RAB12


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 PPP1R1B_RAB12


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 PPP1R1B_RAB12


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 PPP1R1B_RAB12


check button Diseases associated with fusion partners.
(DisGeNet 4.0)
PartnerGeneDisease IDDisease name# pubmedsSource
HgenePPP1R1BC0036341Schizophrenia5PSYGENET
HgenePPP1R1BC0005586Bipolar Disorder4PSYGENET
HgenePPP1R1BC0001973Alcoholic Intoxication, Chronic1PSYGENET
HgenePPP1R1BC0007370Catalepsy1CTD_human
HgenePPP1R1BC0011570Mental Depression1PSYGENET
HgenePPP1R1BC0011581Depressive disorder1PSYGENET
HgenePPP1R1BC0013384Dyskinetic syndrome1CTD_human
TgeneRAB12C0151744Myocardial Ischemia1CTD_human