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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: 26813

FusionGeneSummary for PGGT1B_CCDC112

check button Fusion gene summary
Fusion gene informationFusion gene name: PGGT1B_CCDC112
Fusion gene ID: 26813
HgeneTgene
Gene symbol

PGGT1B

CCDC112

Gene ID

5229

153733

Gene nameprotein geranylgeranyltransferase type I subunit betacoiled-coil domain containing 112
SynonymsBGGI|GGTIMBC1
Cytomap

5q22.3

5q22.3

Type of geneprotein-codingprotein-coding
Descriptiongeranylgeranyl transferase type-1 subunit betaCTC-428G20.3GGTase-I-betageranylgeranyl transferase type I subunit betageranylgeranyltransferase type I beta subunitprotein geranylgeranyltransferase type I, beta subunittype I protein geranyl-geranyltracoiled-coil domain-containing protein 112mutated in bladder cancer 1mutated in bladder cancer protein 1
Modification date2018052320180519
UniProtAcc

P53609

Q8NEF3

Ensembl transtripts involved in fusion geneENST00000419445, ENST00000379615, 
ENST00000514178, 
ENST00000379611, 
ENST00000512261, ENST00000506442, 
ENST00000395557, ENST00000503027, 
Fusion gene scores* DoF score2 X 2 X 2=83 X 3 X 2=18
# samples 23
** MAII scorelog2(2/8*10)=1.32192809488736log2(3/18*10)=0.736965594166206
effective Gene in Pan-Cancer Fusion Genes (eGinPCFGs).
DoF>8 and MAII>0
Context

PubMed: PGGT1B [Title/Abstract] AND CCDC112 [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
HgenePGGT1B

GO:0018344

protein geranylgeranylation

16893176


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
TCGALDSKCMTCGA-FS-A1YX-06APGGT1Bchr5

114598409

-CCDC112chr5

114611303

-
* 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-shiftENST00000419445ENST00000379611PGGT1Bchr5

114598409

-CCDC112chr5

114611303

-
Frame-shiftENST00000419445ENST00000512261PGGT1Bchr5

114598409

-CCDC112chr5

114611303

-
Frame-shiftENST00000419445ENST00000506442PGGT1Bchr5

114598409

-CCDC112chr5

114611303

-
Frame-shiftENST00000419445ENST00000395557PGGT1Bchr5

114598409

-CCDC112chr5

114611303

-
5CDS-5UTRENST00000419445ENST00000503027PGGT1Bchr5

114598409

-CCDC112chr5

114611303

-
Frame-shiftENST00000379615ENST00000379611PGGT1Bchr5

114598409

-CCDC112chr5

114611303

-
Frame-shiftENST00000379615ENST00000512261PGGT1Bchr5

114598409

-CCDC112chr5

114611303

-
Frame-shiftENST00000379615ENST00000506442PGGT1Bchr5

114598409

-CCDC112chr5

114611303

-
Frame-shiftENST00000379615ENST00000395557PGGT1Bchr5

114598409

-CCDC112chr5

114611303

-
5CDS-5UTRENST00000379615ENST00000503027PGGT1Bchr5

114598409

-CCDC112chr5

114611303

-
intron-3CDSENST00000514178ENST00000379611PGGT1Bchr5

114598409

-CCDC112chr5

114611303

-
intron-3CDSENST00000514178ENST00000512261PGGT1Bchr5

114598409

-CCDC112chr5

114611303

-
intron-3CDSENST00000514178ENST00000506442PGGT1Bchr5

114598409

-CCDC112chr5

114611303

-
intron-3CDSENST00000514178ENST00000395557PGGT1Bchr5

114598409

-CCDC112chr5

114611303

-
intron-5UTRENST00000514178ENST00000503027PGGT1Bchr5

114598409

-CCDC112chr5

114611303

-

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FusionProtFeatures for PGGT1B_CCDC112


check buttonMain function of each fusion partner protein. (from UniProt)
HgeneTgene
PGGT1B

P53609

CCDC112

Q8NEF3

Catalyzes the transfer of a geranyl-geranyl moiety fromgeranyl-geranyl pyrophosphate to a cysteine at the fourth positionfrom the C-terminus of proteins having the C-terminal sequenceCys-aliphatic-aliphatic-X. Known substrates include RAC1, RAC2,RAP1A and RAP1B. {ECO:0000269|PubMed:8106351}.

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 PGGT1B_CCDC112


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 PGGT1B_CCDC112


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
PGGT1BEHD1, PDE12, STAT6, UBA6, AKTIP, AMMECR1L, HEYL, SRGAP3, TSKSCCDC112CCDC85B, TEX9, LURAP1, KRT31, TNIP1, FSD2, KRT40, LTBR, KRAS, PCM1, CEP128, NINL, TNFRSF8, TRIM44


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 PGGT1B_CCDC112


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 PGGT1B_CCDC112


check button Diseases associated with fusion partners.
(DisGeNet 4.0)
PartnerGeneDisease IDDisease name# pubmedsSource