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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: 18431

FusionGeneSummary for KDM3A_PUS10

check button Fusion gene summary
Fusion gene informationFusion gene name: KDM3A_PUS10
Fusion gene ID: 18431
HgeneTgene
Gene symbol

KDM3A

PUS10

Gene ID

55818

150962

Gene namelysine demethylase 3Apseudouridylate synthase 10
SynonymsJHDM2A|JHMD2A|JMJD1|JMJD1A|TSGACCDC139|DOBI
Cytomap

2p11.2

2p16.1-p15

Type of geneprotein-codingprotein-coding
Descriptionlysine-specific demethylase 3AjmjC domain-containing histone demethylation protein 2Ajumonji C domain-containing histone demethylase 2Ajumonji domain-containing protein 1Alysine (K)-specific demethylase 3Atestis-specific protein Aputative tRNA pseudouridine synthase Pus10coiled-coil domain containing 139coiled-coil domain-containing protein 139pseudouridine synthase 10psi55 synthasetRNA pseudouridine 55 synthasetRNA pseudouridylate synthasetRNA-uridine isomerase
Modification date2018052320180523
UniProtAcc

Q9Y4C1

Q3MIT2

Ensembl transtripts involved in fusion geneENST00000409556, ENST00000312912, 
ENST00000409064, ENST00000542128, 
ENST00000485171, 
ENST00000316752, 
ENST00000407787, ENST00000398658, 
Fusion gene scores* DoF score7 X 5 X 6=2102 X 2 X 2=8
# samples 72
** MAII scorelog2(7/210*10)=-1.58496250072116
possibly effective Gene in Pan-Cancer Fusion Genes (peGinPCFGs).
DoF>8 and MAII<0
log2(2/8*10)=1.32192809488736
Context

PubMed: KDM3A [Title/Abstract] AND PUS10 [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
HgeneKDM3A

GO:0009755

hormone-mediated signaling pathway

16603237

HgeneKDM3A

GO:0030521

androgen receptor signaling pathway

16603237

HgeneKDM3A

GO:0033169

histone H3-K9 demethylation

16603237

HgeneKDM3A

GO:0046293

formaldehyde biosynthetic process

16603237


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
TCGARVLUSCTCGA-60-2715-01AKDM3Achr2

86718398

+PUS10chr2

61239040

-
* 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
5CDS-5UTRENST00000409556ENST00000316752KDM3Achr2

86718398

+PUS10chr2

61239040

-
5CDS-5UTRENST00000409556ENST00000407787KDM3Achr2

86718398

+PUS10chr2

61239040

-
5CDS-5UTRENST00000409556ENST00000398658KDM3Achr2

86718398

+PUS10chr2

61239040

-
5CDS-5UTRENST00000312912ENST00000316752KDM3Achr2

86718398

+PUS10chr2

61239040

-
5CDS-5UTRENST00000312912ENST00000407787KDM3Achr2

86718398

+PUS10chr2

61239040

-
5CDS-5UTRENST00000312912ENST00000398658KDM3Achr2

86718398

+PUS10chr2

61239040

-
5CDS-5UTRENST00000409064ENST00000316752KDM3Achr2

86718398

+PUS10chr2

61239040

-
5CDS-5UTRENST00000409064ENST00000407787KDM3Achr2

86718398

+PUS10chr2

61239040

-
5CDS-5UTRENST00000409064ENST00000398658KDM3Achr2

86718398

+PUS10chr2

61239040

-
5CDS-5UTRENST00000542128ENST00000316752KDM3Achr2

86718398

+PUS10chr2

61239040

-
5CDS-5UTRENST00000542128ENST00000407787KDM3Achr2

86718398

+PUS10chr2

61239040

-
5CDS-5UTRENST00000542128ENST00000398658KDM3Achr2

86718398

+PUS10chr2

61239040

-
intron-5UTRENST00000485171ENST00000316752KDM3Achr2

86718398

+PUS10chr2

61239040

-
intron-5UTRENST00000485171ENST00000407787KDM3Achr2

86718398

+PUS10chr2

61239040

-
intron-5UTRENST00000485171ENST00000398658KDM3Achr2

86718398

+PUS10chr2

61239040

-

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FusionProtFeatures for KDM3A_PUS10


check buttonMain function of each fusion partner protein. (from UniProt)
HgeneTgene
KDM3A

Q9Y4C1

PUS10

Q3MIT2

Histone demethylase that specifically demethylates 'Lys-9' of histone H3, thereby playing a central role in histone code.Preferentially demethylates mono- and dimethylated H3 'Lys-9'residue, with a preference for dimethylated residue, while it hasweak or no activity on trimethylated H3 'Lys-9'. Demethylation ofLys residue generates formaldehyde and succinate. Involved inhormone-dependent transcriptional activation, by participating inrecruitment to androgen-receptor target genes, resulting in H3'Lys-9' demethylation and transcriptional activation. Involved inspermatogenesis by regulating expression of target genes such asPRM1 and TNP1 which are required for packaging and condensation ofsperm chromatin. Involved in obesity resistance through regulationof metabolic genes such as PPARA and UCP1.{ECO:0000269|PubMed:16603237, ECO:0000269|PubMed:28262558}. Pseudouridylate synthases catalyze pseudouridination ofstructural RNAs, including transfer, ribosomal, and splicing RNAs.PUS10 catalyzes the formation of the universal psi55 in the GCloop of transfer RNAs (Probable). Modulator of TRAIL-induced celldeath via activation of procaspase 8 and BID cleavage. Requiredfor the progression of the apoptotic signal through intrinsicmitochondrial cell death. {ECO:0000269|PubMed:14527409,ECO:0000269|PubMed:19712588, ECO:0000305}.

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 KDM3A_PUS10


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 KDM3A_PUS10


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
KDM3ATCEAL1, ETV2, MKL1, MKL2, MYOCD, HIF1A, HIST2H3C, AR, CBX2, CBX4, RIPK2, RASSF6, TNK2, ARFGAP2, ARPP19, GART, IRF2BP1, C14orf166, EIF4H, STAT6, TSTA3, KIAA0368, POLR2F, HUWE1PUS10FAM206A


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 KDM3A_PUS10


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 KDM3A_PUS10


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