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Fusion gene ID: 33356 |
FusionGeneSummary for SETBP1_SMCO4 |
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Fusion gene information | Fusion gene name: SETBP1_SMCO4 | Fusion gene ID: 33356 | Hgene | Tgene | Gene symbol | SETBP1 | SMCO4 | Gene ID | 26040 | 56935 |
Gene name | SET binding protein 1 | single-pass membrane protein with coiled-coil domains 4 | |
Synonyms | MRD29|SEB | C11orf75|FN5 | |
Cytomap | 18q12.3 | 11q21 | |
Type of gene | protein-coding | protein-coding | |
Description | SET-binding protein | single-pass membrane and coiled-coil domain-containing protein 4UPF0443 protein C11orf75 | |
Modification date | 20180519 | 20180519 | |
UniProtAcc | Q9Y6X0 | Q9NRQ5 | |
Ensembl transtripts involved in fusion gene | ENST00000426838, ENST00000282030, | ENST00000525141, ENST00000298966, ENST00000527149, | |
Fusion gene scores | * DoF score | 4 X 3 X 3=36 | 3 X 2 X 3=18 |
# samples | 4 | 3 | |
** MAII score | log2(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) |
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Partner | Gene | GO ID | GO term | PubMed ID |
![]() (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 type | Source | Cancer type | Sample | Hgene | Hchr | Hbp | Hstrand | Tgene | Tchr | Tbp | Tstrand |
ChiTaRS3.1 | AW866770 | SETBP1 | chr18 | 42307685 | + | SMCO4 | chr11 | 93214062 | + |
* LD: Li Ding group's fusion gene list RV: Roel Verhaak group's fusion gene list ChiTaRs fusion database |
![]() * Click on the break point to see the gene structure around the break point region using the UCSC Genome Browser. |
ORF | Henst | Tenst | Hgene | Hchr | Hbp | Hstrand | Tgene | Tchr | Tbp | Tstrand |
intron-intron | ENST00000426838 | ENST00000525141 | SETBP1 | chr18 | 42307685 | + | SMCO4 | chr11 | 93214062 | + |
intron-intron | ENST00000426838 | ENST00000298966 | SETBP1 | chr18 | 42307685 | + | SMCO4 | chr11 | 93214062 | + |
intron-intron | ENST00000426838 | ENST00000527149 | SETBP1 | chr18 | 42307685 | + | SMCO4 | chr11 | 93214062 | + |
intron-intron | ENST00000282030 | ENST00000525141 | SETBP1 | chr18 | 42307685 | + | SMCO4 | chr11 | 93214062 | + |
intron-intron | ENST00000282030 | ENST00000298966 | SETBP1 | chr18 | 42307685 | + | SMCO4 | chr11 | 93214062 | + |
intron-intron | ENST00000282030 | ENST00000527149 | SETBP1 | chr18 | 42307685 | + | SMCO4 | chr11 | 93214062 | + |
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FusionProtFeatures for SETBP1_SMCO4 |
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Hgene | Tgene |
SETBP1 | SMCO4 |
![]() * 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. |
Partner | Gene | Hbp | Tbp | ENST | Strand | BPexon | TotalExon | Protein feature loci | *BPloci | TotalLen | Protein feature | Protein feature note |
- In-frame and not-retained protein feature among the 13 regional features. |
Partner | Gene | Hbp | Tbp | ENST | Strand | BPexon | TotalExon | Protein feature loci | *BPloci | TotalLen | Protein feature | Protein feature note |
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FusionGeneSequence for SETBP1_SMCO4 |
![]() (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 |
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Hgene | Hgene's interactors | Tgene | Tgene's interactors |
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Partner | Gene | Hbp | Tbp | ENST | Strand | BPexon | TotalExon | Protein feature loci | *BPloci | TotalLen | Still interaction with |
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Partner | Gene | Hbp | Tbp | ENST | Strand | BPexon | TotalExon | Protein feature loci | *BPloci | TotalLen | Interaction lost with |
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Partner | Gene | Hbp | Tbp | ENST | Strand | BPexon | TotalExon | Protein feature loci | *BPloci | TotalLen | Interaction lost with |
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RelatedDrugs for SETBP1_SMCO4 |
![]() (DrugBank Version 5.1.0 2018-04-02) |
Partner | Gene | UniProtAcc | DrugBank ID | Drug name | Drug activity | Drug type | Drug status |
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RelatedDiseases for SETBP1_SMCO4 |
![]() (DisGeNet 4.0) |
Partner | Gene | Disease ID | Disease name | # pubmeds | Source |
Hgene | SETBP1 | C0265227 | Schinzel-Giedion syndrome | 6 | CTD_human;ORPHANET;UNIPROT |
Hgene | SETBP1 | C3463824 | MYELODYSPLASTIC SYNDROME | 4 | UNIPROT |
Hgene | SETBP1 | C0023467 | Leukemia, Myelocytic, Acute | 2 | UNIPROT |
Hgene | SETBP1 | C0023473 | Myeloid Leukemia, Chronic | 2 | UNIPROT |
Hgene | SETBP1 | C0349639 | Juvenile Myelomonocytic Leukemia | 2 | CTD_human;UNIPROT |
Hgene | SETBP1 | C3714756 | Intellectual Disability | 2 | CTD_human;HPO |
Hgene | SETBP1 | C0023014 | Language Development Disorders | 1 | CTD_human |
Hgene | SETBP1 | C0023470 | Myeloid Leukemia | 1 | CTD_human |
Hgene | SETBP1 | C0043094 | Weight Gain | 1 | CTD_human |
Hgene | SETBP1 | C0376634 | Craniofacial Abnormalities | 1 | CTD_human |
Hgene | SETBP1 | C1292772 | Leukemia, Myeloid, Chronic, Atypical, BCR-ABL Negative | 1 | CTD_human |
Hgene | SETBP1 | C1458155 | Mammary Neoplasms | 1 | CTD_human |