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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: 7009

FusionGeneSummary for CHD6_SPEN

check button Fusion gene summary
Fusion gene informationFusion gene name: CHD6_SPEN
Fusion gene ID: 7009
HgeneTgene
Gene symbol

CHD6

SPEN

Gene ID

84181

64783

Gene namechromodomain helicase DNA binding protein 6RNA binding motif protein 15
SynonymsCHD-6|CHD5|RIGBOTT|OTT1|SPEN
Cytomap

20q12

1p13.3

Type of geneprotein-codingprotein-coding
Descriptionchromodomain-helicase-DNA-binding protein 6ATP-dependent helicase CHD6helicase C-terminal domain- and SNF2 N-terminal domain-containing proteinradiation-induced gene B proteinputative RNA-binding protein 15one twenty two proteinone twenty-twoone-twenty two protein 1
Modification date2018051920180523
UniProtAcc

Q8TD26

Q96T58

Ensembl transtripts involved in fusion geneENST00000373233, ENST00000309279, 
ENST00000373222, ENST00000480022, 
ENST00000375759, ENST00000471538, 
Fusion gene scores* DoF score22 X 14 X 10=30804 X 5 X 2=40
# samples 259
** MAII scorelog2(25/3080*10)=-3.62293035092018
possibly effective Gene in Pan-Cancer Fusion Genes (peGinPCFGs).
DoF>8 and MAII<0
log2(9/40*10)=1.16992500144231
effective Gene in Pan-Cancer Fusion Genes (eGinPCFGs).
DoF>8 and MAII>0
Context

PubMed: CHD6 [Title/Abstract] AND SPEN [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
TgeneSPEN

GO:0045892

negative regulation of transcription, DNA-templated

16129689


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
TCGARVTHYMTCGA-ZB-A969-01ACHD6chr20

40246979

-SPENchr1

16199311

+
* 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-3CDSENST00000373233ENST00000375759CHD6chr20

40246979

-SPENchr1

16199311

+
5UTR-intronENST00000373233ENST00000471538CHD6chr20

40246979

-SPENchr1

16199311

+
5UTR-3CDSENST00000309279ENST00000375759CHD6chr20

40246979

-SPENchr1

16199311

+
5UTR-intronENST00000309279ENST00000471538CHD6chr20

40246979

-SPENchr1

16199311

+
5UTR-3CDSENST00000373222ENST00000375759CHD6chr20

40246979

-SPENchr1

16199311

+
5UTR-intronENST00000373222ENST00000471538CHD6chr20

40246979

-SPENchr1

16199311

+
intron-3CDSENST00000480022ENST00000375759CHD6chr20

40246979

-SPENchr1

16199311

+
intron-intronENST00000480022ENST00000471538CHD6chr20

40246979

-SPENchr1

16199311

+

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FusionProtFeatures for CHD6_SPEN


check buttonMain function of each fusion partner protein. (from UniProt)
HgeneTgene
CHD6

Q8TD26

SPEN

Q96T58

May serve as a nuclear matrix platform that organizesand integrates transcriptional responses. In osteoblasts, supportstranscription activation: synergizes with RUNX2 to enhance FGFR2-mediated activation of the osteocalcin FGF-responsive element(OCFRE) (By similarity). Has also been shown to be an essentialcorepressor protein, which probably regulates different keypathways such as the Notch pathway. Negative regulator of theNotch pathway via its interaction with RBPSUH, which prevents theassociation between NOTCH1 and RBPSUH, and therefore suppressesthe transactivation activity of Notch signaling. Blocks thedifferentiation of precursor B-cells into marginal zone B-cells.Probably represses transcription via the recruitment of largecomplexes containing histone deacetylase proteins. May bind bothto DNA and RNA. {ECO:0000250, ECO:0000269|PubMed:11331609,ECO:0000269|PubMed:12374742}.

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 CHD6_SPEN


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 CHD6_SPEN


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
CHD6AIRE, ARAF, TOLLIP, CHD3, ATXN1L, ZFYVE9, SOX2, HIST3H3, HIST1H2BG, SEC16A, RACGAP1, PAPD5, CDCA5, ESR1, EGFRSPENNCOR2, PPARD, HDAC1, SRA1, RBPJ, NCOR1, CTBP1, RBBP8, RUNX1T1, RUNX1, SIRT7, UBE2E2, UBE2L6, ATXN1, NOTCH2, BPGM, TTN, PRDX3, PCBP3, NUP54, PIR, SCYL2, SOX2, HRSP12, SERTAD1, CUL7, OBSL1, EED, BMI1, CCNC, WRAP73, MED23, SRPK2, CLK1, DYNLT1, BCLAF1, FERMT3, USP37, DPPA4, EGFR, TRIML2, CAMKV, PIP4K2A, NR3C1


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 CHD6_SPEN


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 CHD6_SPEN


check button Diseases associated with fusion partners.
(DisGeNet 4.0)
PartnerGeneDisease IDDisease name# pubmedsSource
HgeneCHD6C0005695Bladder Neoplasm1CTD_human
HgeneCHD6C0007138Carcinoma, Transitional Cell1CTD_human
HgeneCHD6C0027819Neuroblastoma1CTD_human