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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: 35205

FusionGeneSummary for SNRPE_SETBP1

check button Fusion gene summary
Fusion gene informationFusion gene name: SNRPE_SETBP1
Fusion gene ID: 35205
HgeneTgene
Gene symbol

SNRPE

SETBP1

Gene ID

6635

26040

Gene namesmall nuclear ribonucleoprotein polypeptide ESET binding protein 1
SynonymsHYPT11|SME|Sm-E|snRNP-EMRD29|SEB
Cytomap

1q32.1

18q12.3

Type of geneprotein-codingprotein-coding
Descriptionsmall nuclear ribonucleoprotein Esm protein ESET-binding protein
Modification date2018052320180519
UniProtAcc

P62304

Q9Y6X0

Ensembl transtripts involved in fusion geneENST00000483099, ENST00000414487, 
ENST00000367208, 
ENST00000426838, 
ENST00000282030, 
Fusion gene scores* DoF score2 X 2 X 1=42 X 2 X 2=8
# samples 22
** MAII scorelog2(2/4*10)=2.32192809488736log2(2/8*10)=1.32192809488736
Context

PubMed: SNRPE [Title/Abstract] AND SETBP1 [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
HgeneSNRPE

GO:0000387

spliceosomal snRNP assembly

18984161


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
ChiTaRS3.1DA778780SNRPEchr1

203831187

+SETBP1chr18

42532622

+
* 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
3UTR-intronENST00000483099ENST00000426838SNRPEchr1

203831187

+SETBP1chr18

42532622

+
3UTR-intronENST00000483099ENST00000282030SNRPEchr1

203831187

+SETBP1chr18

42532622

+
intron-intronENST00000414487ENST00000426838SNRPEchr1

203831187

+SETBP1chr18

42532622

+
intron-intronENST00000414487ENST00000282030SNRPEchr1

203831187

+SETBP1chr18

42532622

+
intron-intronENST00000367208ENST00000426838SNRPEchr1

203831187

+SETBP1chr18

42532622

+
intron-intronENST00000367208ENST00000282030SNRPEchr1

203831187

+SETBP1chr18

42532622

+

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FusionProtFeatures for SNRPE_SETBP1


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

P62304

SETBP1

Q9Y6X0

Core component of the spliceosomal U1, U2, U4 and U5small nuclear ribonucleoproteins (snRNPs), the building blocks ofthe spliceosome. Thereby, plays an important role in the splicingof cellular pre-mRNAs. Most spliceosomal snRNPs contain a commonset of Sm proteins SNRPB, SNRPD1, SNRPD2, SNRPD3, SNRPE, SNRPF andSNRPG that assemble in a heptameric protein ring on the Sm site ofthe small nuclear RNA to form the core snRNP. As part of the U7snRNP it is involved in histone 3'-end processing. May indirectlyplay a role in hair development. {ECO:0000269|PubMed:18984161,ECO:0000269|PubMed:23246290, ECO:0000269|PubMed:23333303}.

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 SNRPE_SETBP1


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 SNRPE_SETBP1


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 SNRPE_SETBP1


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 SNRPE_SETBP1


check button Diseases associated with fusion partners.
(DisGeNet 4.0)
PartnerGeneDisease IDDisease name# pubmedsSource
HgeneSNRPEC3554409HYPOTRICHOSIS 111UNIPROT
TgeneSETBP1C0265227Schinzel-Giedion syndrome6CTD_human;ORPHANET;UNIPROT
TgeneSETBP1C3463824MYELODYSPLASTIC SYNDROME4UNIPROT
TgeneSETBP1C0023467Leukemia, Myelocytic, Acute2UNIPROT
TgeneSETBP1C0023473Myeloid Leukemia, Chronic2UNIPROT
TgeneSETBP1C0349639Juvenile Myelomonocytic Leukemia2CTD_human;UNIPROT
TgeneSETBP1C3714756Intellectual Disability2CTD_human;HPO
TgeneSETBP1C0023014Language Development Disorders1CTD_human
TgeneSETBP1C0023470Myeloid Leukemia1CTD_human
TgeneSETBP1C0043094Weight Gain1CTD_human
TgeneSETBP1C0376634Craniofacial Abnormalities1CTD_human
TgeneSETBP1C1292772Leukemia, Myeloid, Chronic, Atypical, BCR-ABL Negative1CTD_human
TgeneSETBP1C1458155Mammary Neoplasms1CTD_human