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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: 28208

FusionGeneSummary for PPIL1_SMAP2

check button Fusion gene summary
Fusion gene informationFusion gene name: PPIL1_SMAP2
Fusion gene ID: 28208
HgeneTgene
Gene symbol

PPIL1

SMAP2

Gene ID

51645

64744

Gene namepeptidylprolyl isomerase like 1small ArfGAP2
SynonymsCGI-124|CYPL1|PPIase|hCyPXSMAP1L
Cytomap

6p21.2

1p34.2

Type of geneprotein-codingprotein-coding
Descriptionpeptidyl-prolyl cis-trans isomerase-like 1cyclophilin like 1cyclophilin-related gene 1peptidyl-prolyl cis-trans isomerasepeptidylprolyl isomerase (cyclophilin)-like 1rotamase PPIL1stromal membrane-associated protein 2stromal membrane-associated GTPase-activating protein 2
Modification date2018052320180522
UniProtAcc

Q9Y3C6

Q8WU79

Ensembl transtripts involved in fusion geneENST00000373699, ENST00000483552, 
ENST00000539317, ENST00000487871, 
Fusion gene scores* DoF score1 X 1 X 1=15 X 5 X 3=75
# samples 15
** MAII scorelog2(1/1*10)=3.32192809488736log2(5/75*10)=-0.584962500721156
possibly effective Gene in Pan-Cancer Fusion Genes (peGinPCFGs).
DoF>8 and MAII<0
Context

PubMed: PPIL1 [Title/Abstract] AND SMAP2 [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
HgenePPIL1

GO:0000398

mRNA splicing, via spliceosome

28076346

HgenePPIL1

GO:0000413

protein peptidyl-prolyl isomerization

16595688|20676357


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
ChiTaRS3.1DB033860PPIL1chr6

36823774

-SMAP2chr1

40881912

+
* 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-3CDSENST00000373699ENST00000539317PPIL1chr6

36823774

-SMAP2chr1

40881912

+
intron-intronENST00000373699ENST00000487871PPIL1chr6

36823774

-SMAP2chr1

40881912

+
intron-3CDSENST00000483552ENST00000539317PPIL1chr6

36823774

-SMAP2chr1

40881912

+
intron-intronENST00000483552ENST00000487871PPIL1chr6

36823774

-SMAP2chr1

40881912

+

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FusionProtFeatures for PPIL1_SMAP2


check buttonMain function of each fusion partner protein. (from UniProt)
HgeneTgene
PPIL1

Q9Y3C6

SMAP2

Q8WU79

Involved in pre-mRNA splicing as component of thespliceosome (PubMed:11991638, PubMed:28502770, PubMed:28076346).PPIases accelerate the folding of proteins. It catalyzes the cis-trans isomerization of proline imidic peptide bonds inoligopeptides (PubMed:16595688). {ECO:0000269|PubMed:11991638,ECO:0000269|PubMed:16595688, ECO:0000269|PubMed:28076346,ECO:0000269|PubMed:28502770}.

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 PPIL1_SMAP2


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 PPIL1_SMAP2


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 PPIL1_SMAP2


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 PPIL1_SMAP2


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