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Fusion gene ID: 7009 |
FusionGeneSummary for CHD6_SPEN |
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Fusion gene information | Fusion gene name: CHD6_SPEN | Fusion gene ID: 7009 | Hgene | Tgene | Gene symbol | CHD6 | SPEN | Gene ID | 84181 | 64783 |
Gene name | chromodomain helicase DNA binding protein 6 | RNA binding motif protein 15 | |
Synonyms | CHD-6|CHD5|RIGB | OTT|OTT1|SPEN | |
Cytomap | 20q12 | 1p13.3 | |
Type of gene | protein-coding | protein-coding | |
Description | chromodomain-helicase-DNA-binding protein 6ATP-dependent helicase CHD6helicase C-terminal domain- and SNF2 N-terminal domain-containing proteinradiation-induced gene B protein | putative RNA-binding protein 15one twenty two proteinone twenty-twoone-twenty two protein 1 | |
Modification date | 20180519 | 20180523 | |
UniProtAcc | Q8TD26 | Q96T58 | |
Ensembl transtripts involved in fusion gene | ENST00000373233, ENST00000309279, ENST00000373222, ENST00000480022, | ENST00000375759, ENST00000471538, | |
Fusion gene scores | * DoF score | 22 X 14 X 10=3080 | 4 X 5 X 2=40 |
# samples | 25 | 9 | |
** MAII score | log2(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) |
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Partner | Gene | GO ID | GO term | PubMed ID |
Tgene | SPEN | GO:0045892 | negative regulation of transcription, DNA-templated | 16129689 |
![]() (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 |
TCGA | RV | THYM | TCGA-ZB-A969-01A | CHD6 | chr20 | 40246979 | - | SPEN | chr1 | 16199311 | + |
* LD: Li Ding group's fusion gene list RV: Roel Verhaak group's fusion gene list ChiTaRs fusion database |
![]() * 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 |
5UTR-3CDS | ENST00000373233 | ENST00000375759 | CHD6 | chr20 | 40246979 | - | SPEN | chr1 | 16199311 | + |
5UTR-intron | ENST00000373233 | ENST00000471538 | CHD6 | chr20 | 40246979 | - | SPEN | chr1 | 16199311 | + |
5UTR-3CDS | ENST00000309279 | ENST00000375759 | CHD6 | chr20 | 40246979 | - | SPEN | chr1 | 16199311 | + |
5UTR-intron | ENST00000309279 | ENST00000471538 | CHD6 | chr20 | 40246979 | - | SPEN | chr1 | 16199311 | + |
5UTR-3CDS | ENST00000373222 | ENST00000375759 | CHD6 | chr20 | 40246979 | - | SPEN | chr1 | 16199311 | + |
5UTR-intron | ENST00000373222 | ENST00000471538 | CHD6 | chr20 | 40246979 | - | SPEN | chr1 | 16199311 | + |
intron-3CDS | ENST00000480022 | ENST00000375759 | CHD6 | chr20 | 40246979 | - | SPEN | chr1 | 16199311 | + |
intron-intron | ENST00000480022 | ENST00000471538 | CHD6 | chr20 | 40246979 | - | SPEN | chr1 | 16199311 | + |
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FusionProtFeatures for CHD6_SPEN |
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Hgene | Tgene |
CHD6 | SPEN |
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}. |
![]() * 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 CHD6_SPEN |
![]() (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 |
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Hgene | Hgene's interactors | Tgene | Tgene's interactors |
CHD6 | AIRE, ARAF, TOLLIP, CHD3, ATXN1L, ZFYVE9, SOX2, HIST3H3, HIST1H2BG, SEC16A, RACGAP1, PAPD5, CDCA5, ESR1, EGFR | SPEN | NCOR2, 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 |
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Partner | Gene | Hbp | Tbp | ENST | Strand | BPexon | TotalExon | Protein feature loci | *BPloci | TotalLen | Still interaction with |
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Partner | Gene | Hbp | Tbp | ENST | Strand | BPexon | TotalExon | Protein feature loci | *BPloci | TotalLen | Interaction lost with |
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Partner | Gene | Hbp | Tbp | ENST | Strand | BPexon | TotalExon | Protein feature loci | *BPloci | TotalLen | Interaction lost with |
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RelatedDrugs for CHD6_SPEN |
![]() (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 CHD6_SPEN |
![]() (DisGeNet 4.0) |
Partner | Gene | Disease ID | Disease name | # pubmeds | Source |
Hgene | CHD6 | C0005695 | Bladder Neoplasm | 1 | CTD_human |
Hgene | CHD6 | C0007138 | Carcinoma, Transitional Cell | 1 | CTD_human |
Hgene | CHD6 | C0027819 | Neuroblastoma | 1 | CTD_human |