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Fusion gene ID: 34923 |
FusionGeneSummary for SMG9_KDM1B |
Fusion gene summary |
Fusion gene information | Fusion gene name: SMG9_KDM1B | Fusion gene ID: 34923 | Hgene | Tgene | Gene symbol | SMG9 | KDM1B | Gene ID | 56006 | 221656 |
Gene name | SMG9, nonsense mediated mRNA decay factor | lysine demethylase 1B | |
Synonyms | C19orf61|F17127_1|HBMS | AOF1|C6orf193|LSD2|bA204B7.3|dJ298J15.2 | |
Cytomap | 19q13.31 | 6p22.3 | |
Type of gene | protein-coding | protein-coding | |
Description | protein SMG9protein smg-9 homolog | lysine-specific histone demethylase 1Bamine oxidase (flavin containing) domain 1amine oxidase, flavin containing 1flavin-containing amine oxidase domain-containing protein 1lysine (K)-specific demethylase 1Blysine-specific histone demethylase 2 | |
Modification date | 20180519 | 20180523 | |
UniProtAcc | Q9H0W8 | Q8NB78 | |
Ensembl transtripts involved in fusion gene | ENST00000270066, ENST00000601170, | ENST00000546309, ENST00000397244, ENST00000388870, ENST00000297792, | |
Fusion gene scores | * DoF score | 2 X 2 X 2=8 | 4 X 4 X 4=64 |
# samples | 2 | 4 | |
** MAII score | log2(2/8*10)=1.32192809488736 | log2(4/64*10)=-0.678071905112638 possibly effective Gene in Pan-Cancer Fusion Genes (peGinPCFGs). DoF>8 and MAII<0 | |
Context | PubMed: SMG9 [Title/Abstract] AND KDM1B [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) |
Gene ontology of each fusion partner gene with evidence of Inferred from Direct Assay (IDA) from Entrez |
Partner | Gene | GO ID | GO term | PubMed ID |
Tgene | KDM1B | GO:0034720 | histone H3-K4 demethylation | 23266887 |
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 type | Source | Cancer type | Sample | Hgene | Hchr | Hbp | Hstrand | Tgene | Tchr | Tbp | Tstrand |
ChiTaRS3.1 | BQ067678 | SMG9 | chr19 | 44258892 | - | KDM1B | chr6 | 18212731 | + |
* LD: Li Ding group's fusion gene list RV: Roel Verhaak group's fusion gene list ChiTaRs fusion database |
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. |
ORF | Henst | Tenst | Hgene | Hchr | Hbp | Hstrand | Tgene | Tchr | Tbp | Tstrand |
intron-intron | ENST00000270066 | ENST00000546309 | SMG9 | chr19 | 44258892 | - | KDM1B | chr6 | 18212731 | + |
intron-intron | ENST00000270066 | ENST00000397244 | SMG9 | chr19 | 44258892 | - | KDM1B | chr6 | 18212731 | + |
intron-intron | ENST00000270066 | ENST00000388870 | SMG9 | chr19 | 44258892 | - | KDM1B | chr6 | 18212731 | + |
intron-intron | ENST00000270066 | ENST00000297792 | SMG9 | chr19 | 44258892 | - | KDM1B | chr6 | 18212731 | + |
intron-intron | ENST00000601170 | ENST00000546309 | SMG9 | chr19 | 44258892 | - | KDM1B | chr6 | 18212731 | + |
intron-intron | ENST00000601170 | ENST00000397244 | SMG9 | chr19 | 44258892 | - | KDM1B | chr6 | 18212731 | + |
intron-intron | ENST00000601170 | ENST00000388870 | SMG9 | chr19 | 44258892 | - | KDM1B | chr6 | 18212731 | + |
intron-intron | ENST00000601170 | ENST00000297792 | SMG9 | chr19 | 44258892 | - | KDM1B | chr6 | 18212731 | + |
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FusionProtFeatures for SMG9_KDM1B |
Main function of each fusion partner protein. (from UniProt) |
Hgene | Tgene |
SMG9 | KDM1B |
Involved in nonsense-mediated decay (NMD) of mRNAscontaining premature stop codons (PubMed:19417104). Is recruitedby release factors to stalled ribosomes together with SMG1 andSMG8 (forming the SMG1C protein kinase complex) and, in the SMG1Ccomplex, is required for the efficient association between SMG1and SMG8 (PubMed:19417104). Plays a role in brain, heart, and eyedevelopment (By similarity). {ECO:0000250|UniProtKB:Q9DB90,ECO:0000269|PubMed:19417104}. | Histone demethylase that demethylates 'Lys-4' of histoneH3, a specific tag for epigenetic transcriptional activation,thereby acting as a corepressor. Required for de novo DNAmethylation of a subset of imprinted genes during oogenesis. Actsby oxidizing the substrate by FAD to generate the correspondingimine that is subsequently hydrolyzed. Demethylates both mono- anddi-methylated 'Lys-4' of histone H3. Has no effect on tri-methylated 'Lys-4', mono-, di- or tri-methylated 'Lys-9', mono-,di- or tri-methylated 'Lys-27', mono-, di- or tri-methylated 'Lys-36' of histone H3, or on mono-, di- or tri-methylated 'Lys-20' ofhistone H4. {ECO:0000269|PubMed:23260659,ECO:0000269|PubMed:23357850}. |
Retention 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 . * 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 SMG9_KDM1B |
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 SMG9_KDM1B |
Go to ChiPPI (Chimeric Protein-Protein interactions) to see the chimeric PPI interaction in . |
Protein-protein interactors with each fusion partner protein in wild-type (BIOGRID-3.4.160) |
Hgene | Hgene's interactors | Tgene | Tgene's interactors |
- Retained PPIs in in-frame fusion. |
Partner | Gene | Hbp | Tbp | ENST | Strand | BPexon | TotalExon | Protein feature loci | *BPloci | TotalLen | Still interaction with |
- Lost PPIs in in-frame fusion. |
Partner | Gene | Hbp | Tbp | ENST | Strand | BPexon | TotalExon | Protein feature loci | *BPloci | TotalLen | Interaction lost with |
- Retained PPIs, but lost function due to frame-shift fusion. |
Partner | Gene | Hbp | Tbp | ENST | Strand | BPexon | TotalExon | Protein feature loci | *BPloci | TotalLen | Interaction lost with |
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RelatedDrugs for SMG9_KDM1B |
Drugs targeting genes involved in this fusion gene. (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 SMG9_KDM1B |
Diseases associated with fusion partners. (DisGeNet 4.0) |
Partner | Gene | Disease ID | Disease name | # pubmeds | Source |