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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: 34923

FusionGeneSummary for SMG9_KDM1B

check button Fusion gene summary
Fusion gene informationFusion gene name: SMG9_KDM1B
Fusion gene ID: 34923
HgeneTgene
Gene symbol

SMG9

KDM1B

Gene ID

56006

221656

Gene nameSMG9, nonsense mediated mRNA decay factorlysine demethylase 1B
SynonymsC19orf61|F17127_1|HBMSAOF1|C6orf193|LSD2|bA204B7.3|dJ298J15.2
Cytomap

19q13.31

6p22.3

Type of geneprotein-codingprotein-coding
Descriptionprotein SMG9protein smg-9 homologlysine-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 date2018051920180523
UniProtAcc

Q9H0W8

Q8NB78

Ensembl transtripts involved in fusion geneENST00000270066, ENST00000601170, 
ENST00000546309, ENST00000397244, 
ENST00000388870, ENST00000297792, 
Fusion gene scores* DoF score2 X 2 X 2=84 X 4 X 4=64
# samples 24
** MAII scorelog2(2/8*10)=1.32192809488736log2(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)

check button Gene ontology of each fusion partner gene with evidence of Inferred from Direct Assay (IDA) from Entrez
PartnerGeneGO IDGO termPubMed ID
TgeneKDM1B

GO:0034720

histone H3-K4 demethylation

23266887


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
ChiTaRS3.1BQ067678SMG9chr19

44258892

-KDM1Bchr6

18212731

+
* 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-intronENST00000270066ENST00000546309SMG9chr19

44258892

-KDM1Bchr6

18212731

+
intron-intronENST00000270066ENST00000397244SMG9chr19

44258892

-KDM1Bchr6

18212731

+
intron-intronENST00000270066ENST00000388870SMG9chr19

44258892

-KDM1Bchr6

18212731

+
intron-intronENST00000270066ENST00000297792SMG9chr19

44258892

-KDM1Bchr6

18212731

+
intron-intronENST00000601170ENST00000546309SMG9chr19

44258892

-KDM1Bchr6

18212731

+
intron-intronENST00000601170ENST00000397244SMG9chr19

44258892

-KDM1Bchr6

18212731

+
intron-intronENST00000601170ENST00000388870SMG9chr19

44258892

-KDM1Bchr6

18212731

+
intron-intronENST00000601170ENST00000297792SMG9chr19

44258892

-KDM1Bchr6

18212731

+

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FusionProtFeatures for SMG9_KDM1B


check buttonMain function of each fusion partner protein. (from UniProt)
HgeneTgene
SMG9

Q9H0W8

KDM1B

Q8NB78

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}.

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 SMG9_KDM1B


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 SMG9_KDM1B


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 SMG9_KDM1B


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 SMG9_KDM1B


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