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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: 33356

FusionGeneSummary for SETBP1_SMCO4

check button Fusion gene summary
Fusion gene informationFusion gene name: SETBP1_SMCO4
Fusion gene ID: 33356
HgeneTgene
Gene symbol

SETBP1

SMCO4

Gene ID

26040

56935

Gene nameSET binding protein 1single-pass membrane protein with coiled-coil domains 4
SynonymsMRD29|SEBC11orf75|FN5
Cytomap

18q12.3

11q21

Type of geneprotein-codingprotein-coding
DescriptionSET-binding proteinsingle-pass membrane and coiled-coil domain-containing protein 4UPF0443 protein C11orf75
Modification date2018051920180519
UniProtAcc

Q9Y6X0

Q9NRQ5

Ensembl transtripts involved in fusion geneENST00000426838, ENST00000282030, 
ENST00000525141, ENST00000298966, 
ENST00000527149, 
Fusion gene scores* DoF score4 X 3 X 3=363 X 2 X 3=18
# samples 43
** MAII scorelog2(4/36*10)=0.15200309344505
effective Gene in Pan-Cancer Fusion Genes (eGinPCFGs).
DoF>8 and MAII>0
log2(3/18*10)=0.736965594166206
effective Gene in Pan-Cancer Fusion Genes (eGinPCFGs).
DoF>8 and MAII>0
Context

PubMed: SETBP1 [Title/Abstract] AND SMCO4 [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

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
ChiTaRS3.1AW866770SETBP1chr18

42307685

+SMCO4chr11

93214062

+
* 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-intronENST00000426838ENST00000525141SETBP1chr18

42307685

+SMCO4chr11

93214062

+
intron-intronENST00000426838ENST00000298966SETBP1chr18

42307685

+SMCO4chr11

93214062

+
intron-intronENST00000426838ENST00000527149SETBP1chr18

42307685

+SMCO4chr11

93214062

+
intron-intronENST00000282030ENST00000525141SETBP1chr18

42307685

+SMCO4chr11

93214062

+
intron-intronENST00000282030ENST00000298966SETBP1chr18

42307685

+SMCO4chr11

93214062

+
intron-intronENST00000282030ENST00000527149SETBP1chr18

42307685

+SMCO4chr11

93214062

+

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FusionProtFeatures for SETBP1_SMCO4


check buttonMain function of each fusion partner protein. (from UniProt)
HgeneTgene
SETBP1

Q9Y6X0

SMCO4

Q9NRQ5


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 SETBP1_SMCO4


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 SETBP1_SMCO4


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 SETBP1_SMCO4


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 SETBP1_SMCO4


check button Diseases associated with fusion partners.
(DisGeNet 4.0)
PartnerGeneDisease IDDisease name# pubmedsSource
HgeneSETBP1C0265227Schinzel-Giedion syndrome6CTD_human;ORPHANET;UNIPROT
HgeneSETBP1C3463824MYELODYSPLASTIC SYNDROME4UNIPROT
HgeneSETBP1C0023467Leukemia, Myelocytic, Acute2UNIPROT
HgeneSETBP1C0023473Myeloid Leukemia, Chronic2UNIPROT
HgeneSETBP1C0349639Juvenile Myelomonocytic Leukemia2CTD_human;UNIPROT
HgeneSETBP1C3714756Intellectual Disability2CTD_human;HPO
HgeneSETBP1C0023014Language Development Disorders1CTD_human
HgeneSETBP1C0023470Myeloid Leukemia1CTD_human
HgeneSETBP1C0043094Weight Gain1CTD_human
HgeneSETBP1C0376634Craniofacial Abnormalities1CTD_human
HgeneSETBP1C1292772Leukemia, Myeloid, Chronic, Atypical, BCR-ABL Negative1CTD_human
HgeneSETBP1C1458155Mammary Neoplasms1CTD_human