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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: 18519

FusionGeneSummary for KDM6B_DNAH2

check button Fusion gene summary
Fusion gene informationFusion gene name: KDM6B_DNAH2
Fusion gene ID: 18519
HgeneTgene
Gene symbol

KDM6B

DNAH2

Gene ID

23135

146754

Gene namelysine demethylase 6Bdynein axonemal heavy chain 2
SynonymsJMJD3DNAHC2|DNHD3
Cytomap

17p13.1

17p13.1

Type of geneprotein-codingprotein-coding
Descriptionlysine-specific demethylase 6BjmjC domain-containing protein 3jumonji domain containing 3, histone lysine demethylasejumonji domain-containing protein 3lysine (K)-specific demethylase 6Bdynein heavy chain 2, axonemalaxonemal beta dynein heavy chain 2ciliary dynein heavy chain 2dynein heavy chain domain-containing protein 3dynein, axonemal, heavy polypeptide 2
Modification date2018052320180523
UniProtAcc

O15054

Q9P225

Ensembl transtripts involved in fusion geneENST00000254846, ENST00000448097, 
ENST00000572030, 
ENST00000572933, 
ENST00000389173, ENST00000570791, 
ENST00000082259, 
Fusion gene scores* DoF score3 X 4 X 3=366 X 4 X 4=96
# samples 36
** MAII scorelog2(3/36*10)=-0.263034405833794
possibly effective Gene in Pan-Cancer Fusion Genes (peGinPCFGs).
DoF>8 and MAII<0
log2(6/96*10)=-0.678071905112638
possibly effective Gene in Pan-Cancer Fusion Genes (peGinPCFGs).
DoF>8 and MAII<0
Context

PubMed: KDM6B [Title/Abstract] AND DNAH2 [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
TCGARVLUADTCGA-67-3770-01AKDM6Bchr17

7743342

+DNAH2chr17

7704896

+
* 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
5UTR-3CDSENST00000254846ENST00000572933KDM6Bchr17

7743342

+DNAH2chr17

7704896

+
5UTR-3CDSENST00000254846ENST00000389173KDM6Bchr17

7743342

+DNAH2chr17

7704896

+
5UTR-intronENST00000254846ENST00000570791KDM6Bchr17

7743342

+DNAH2chr17

7704896

+
5UTR-intronENST00000254846ENST00000082259KDM6Bchr17

7743342

+DNAH2chr17

7704896

+
5UTR-3CDSENST00000448097ENST00000572933KDM6Bchr17

7743342

+DNAH2chr17

7704896

+
5UTR-3CDSENST00000448097ENST00000389173KDM6Bchr17

7743342

+DNAH2chr17

7704896

+
5UTR-intronENST00000448097ENST00000570791KDM6Bchr17

7743342

+DNAH2chr17

7704896

+
5UTR-intronENST00000448097ENST00000082259KDM6Bchr17

7743342

+DNAH2chr17

7704896

+
3UTR-3CDSENST00000572030ENST00000572933KDM6Bchr17

7743342

+DNAH2chr17

7704896

+
3UTR-3CDSENST00000572030ENST00000389173KDM6Bchr17

7743342

+DNAH2chr17

7704896

+
3UTR-intronENST00000572030ENST00000570791KDM6Bchr17

7743342

+DNAH2chr17

7704896

+
3UTR-intronENST00000572030ENST00000082259KDM6Bchr17

7743342

+DNAH2chr17

7704896

+

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FusionProtFeatures for KDM6B_DNAH2


check buttonMain function of each fusion partner protein. (from UniProt)
HgeneTgene
KDM6B

O15054

DNAH2

Q9P225

Histone demethylase that specifically demethylates 'Lys-27' of histone H3, thereby playing a central role in histone code(PubMed:17825402, PubMed:17851529, PubMed:17713478,PubMed:18003914). Demethylates trimethylated and dimethylated H3'Lys-27' (PubMed:17825402, PubMed:17851529, PubMed:17713478,PubMed:18003914). Plays a central role in regulation of posteriordevelopment, by regulating HOX gene expression (PubMed:17851529).Involved in inflammatory response by participating in macrophagedifferentiation in case of inflammation by regulating geneexpression and macrophage differentiation (PubMed:17825402). Playsa demethylase-independent role in chromatin remodeling to regulateT-box family member-dependent gene expression by acting as a linkbetween T-box factors and the SMARCA4-containing SWI/SNFremodeling complex (By similarity). {ECO:0000250|UniProtKB:Q5NCY0,ECO:0000269|PubMed:17713478, ECO:0000269|PubMed:17825402,ECO:0000269|PubMed:17851529, ECO:0000269|PubMed:18003914,ECO:0000269|PubMed:28262558}. Force generating protein of respiratory cilia. Producesforce towards the minus ends of microtubules. Dynein has ATPaseactivity; the force-producing power stroke is thought to occur onrelease of ADP. Involved in sperm motility; implicated in spermflagellar assembly (By similarity). {ECO:0000250}.

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 KDM6B_DNAH2


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 KDM6B_DNAH2


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
KDM6BSMAD4, SMAD1, WAS, SMAD2, SMAD3, HIST1H3A, CSNK2B, TK1, WDR5, ASH2L, RBBP5, TDGDNAH2COPS5, ESR1


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 KDM6B_DNAH2


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 KDM6B_DNAH2


check button Diseases associated with fusion partners.
(DisGeNet 4.0)
PartnerGeneDisease IDDisease name# pubmedsSource
HgeneKDM6BC0010606Adenoid Cystic Carcinoma1CTD_human
HgeneKDM6BC3714756Intellectual Disability1CTD_human