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![]() | Fusion Gene Summary |
![]() | Fusion Gene ORF analysis |
![]() | Fusion Genomic Features |
![]() | Fusion Protein Features |
![]() | Fusion Gene Sequence |
![]() | Fusion Gene PPI analysis |
![]() | Related Drugs |
![]() | Related Diseases |
Fusion gene:CHD6-SPEN (FusionGDB2 ID:16395) |
Fusion Gene Summary for CHD6-SPEN |
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Fusion gene information | Fusion gene name: CHD6-SPEN | Fusion gene ID: 16395 | 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 | RNA-binding protein 15one twenty two proteinone twenty-twoone-twenty two protein 1putative RNA-binding protein 15 | |
Modification date | 20200313 | 20200313 | |
UniProtAcc | Q8TD26 | . | |
Ensembl transtripts involved in fusion gene | ENST00000373233, ENST00000309279, ENST00000373222, ENST00000480022, | ENST00000375759, ENST00000471538, | |
Fusion gene scores | * DoF score | 30 X 18 X 11=5940 | 6 X 7 X 3=126 |
# samples | 35 | 8 | |
** MAII score | log2(35/5940*10)=-4.0850361038558 possibly effective Gene in Pan-Cancer Fusion Genes (peGinPCFGs). DoF>8 and MAII<0 | log2(8/126*10)=-0.655351828612554 possibly effective Gene in Pan-Cancer Fusion Genes (peGinPCFGs). DoF>8 and MAII<0 | |
Context | PubMed: CHD6 [Title/Abstract] AND SPEN [Title/Abstract] AND fusion [Title/Abstract] | ||
Most frequent breakpoint | CHD6(40246979)-SPEN(16199311), # samples:3 | ||
Anticipated loss of major functional domain due to fusion event. |
* 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:0000381 | regulation of alternative mRNA splicing, via spliceosome | 26575292 |
Tgene | SPEN | GO:0001510 | RNA methylation | 27602518 |
Tgene | SPEN | GO:0009048 | dosage compensation by inactivation of X chromosome | 27602518 |
Tgene | SPEN | GO:0045652 | regulation of megakaryocyte differentiation | 26575292 |
Tgene | SPEN | GO:0045892 | negative regulation of transcription, DNA-templated | 16129689 |
![]() * Click on the image to open the UCSC genome browser with custom track showing this image in a new window. |
![]() * Click on the image to open the UCSC genome browser with custom track showing this image in a new window. |
![]() * 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. |
Source | Disease | Sample | Hgene | Hchr | Hbp | Hstrand | Tgene | Tchr | Tbp | Tstrand |
ChimerDB4 | THYM | TCGA-ZB-A969-01A | CHD6 | chr20 | 40246979 | - | SPEN | chr1 | 16199311 | + |
ChimerDB4 | THYM | TCGA-ZB-A969 | CHD6 | chr20 | 40246978 | - | SPEN | chr1 | 16199310 | + |
ChimerDB4 | THYM | TCGA-ZB-A969 | CHD6 | chr20 | 40246979 | - | SPEN | chr1 | 16199311 | + |
ChimerDB4 | THYM | TCGA-ZB-A969-01A | CHD6 | chr20 | 40246979 | - | SPEN | chr1 | 16199311 | + |
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Fusion Gene ORF analysis for CHD6-SPEN |
![]() * 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 | + |
5UTR-3CDS | ENST00000373233 | ENST00000375759 | CHD6 | chr20 | 40246978 | - | SPEN | chr1 | 16199310 | + |
5UTR-intron | ENST00000373233 | ENST00000471538 | CHD6 | chr20 | 40246978 | - | SPEN | chr1 | 16199310 | + |
5UTR-3CDS | ENST00000309279 | ENST00000375759 | CHD6 | chr20 | 40246978 | - | SPEN | chr1 | 16199310 | + |
5UTR-intron | ENST00000309279 | ENST00000471538 | CHD6 | chr20 | 40246978 | - | SPEN | chr1 | 16199310 | + |
5UTR-3CDS | ENST00000373222 | ENST00000375759 | CHD6 | chr20 | 40246978 | - | SPEN | chr1 | 16199310 | + |
5UTR-intron | ENST00000373222 | ENST00000471538 | CHD6 | chr20 | 40246978 | - | SPEN | chr1 | 16199310 | + |
intron-3CDS | ENST00000480022 | ENST00000375759 | CHD6 | chr20 | 40246978 | - | SPEN | chr1 | 16199310 | + |
intron-intron | ENST00000480022 | ENST00000471538 | CHD6 | chr20 | 40246978 | - | SPEN | chr1 | 16199310 | + |
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Henst | Tenst | Hgene | Hchr | Hbp | Hstrand | Tgene | Tchr | Tbp | Tstrand | Seq length (transcript) | BP loci (transcript) | Predicted start (transcript) | Predicted stop (transcript) | Seq length (amino acids) |
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Henst | Tenst | Hgene | Hchr | Hbp | Hstrand | Tgene | Tchr | Tbp | Tstrand | No-coding score | Coding score |
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Fusion Genomic Features for CHD6-SPEN |
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Hgene | Hchr | Hbp | Hstrand | Tgene | Tchr | Tbp | Tstrand | 1-p | p (fusion gene breakpoint) |
CHD6 | chr20 | 40246978 | - | SPEN | chr1 | 16199310 | + | 8.80E-08 | 0.9999999 |
CHD6 | chr20 | 40246978 | - | SPEN | chr1 | 16199310 | + | 8.80E-08 | 0.9999999 |
CHD6 | chr20 | 40246978 | - | SPEN | chr1 | 16199310 | + | 8.80E-08 | 0.9999999 |
CHD6 | chr20 | 40246978 | - | SPEN | chr1 | 16199310 | + | 8.80E-08 | 0.9999999 |
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Fusion Protein Features for CHD6-SPEN |
![]() FGviewer for the breakpoints of :-: - FGviewer provides the online visualization of the retention search of the protein functional features across DNA, RNA, protein, and pathological levels. |
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Hgene | Tgene |
CHD6 | . |
FUNCTION: DNA-dependent ATPase that plays a role in chromatin remodeling. Regulates transcription by disrupting nucleosomes in a largely non-sliding manner which strongly increases the accessibility of chromatin (PubMed:28533432). Activates transcription of specific genes in response to oxidative stress through interaction with NFE2L2. {ECO:0000269|PubMed:16314513, ECO:0000269|PubMed:28533432}.; FUNCTION: (Microbial infection) Acts as a transcriptional repressor of different viruses including influenza virus or papillomavirus. During influenza virus infection, the viral polymerase complex localizes CHD6 to inactive chromatin where it gets degraded in a proteasome independent-manner. {ECO:0000269|PubMed:20631145, ECO:0000269|PubMed:21899694, ECO:0000269|PubMed:23408615}. | FUNCTION: Might normally function as a transcriptional repressor. EWS-fusion-proteins (EFPS) may play a role in the tumorigenic process. They may disturb gene expression by mimicking, or interfering with the normal function of CTD-POLII within the transcription initiation complex. They may also contribute to an aberrant activation of the fusion protein target genes. |
![]() * 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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Fusion Gene Sequence for CHD6-SPEN |
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Fusion Gene PPI Analysis for CHD6-SPEN |
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Hgene | Hgene's interactors | Tgene | Tgene's interactors |
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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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Related Drugs for CHD6-SPEN |
![]() (DrugBank Version 5.1.8 2021-05-08) |
Partner | Gene | UniProtAcc | DrugBank ID | Drug name | Drug activity | Drug type | Drug status |
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Related Diseases for CHD6-SPEN |
![]() (DisGeNet 4.0) |
Partner | Gene | Disease ID | Disease name | # pubmeds | Source |
Hgene | CHD6 | C0005684 | Malignant neoplasm of urinary bladder | 1 | CTD_human |
Hgene | CHD6 | C0005695 | Bladder Neoplasm | 1 | CTD_human |
Hgene | CHD6 | C0007138 | Carcinoma, Transitional Cell | 1 | CTD_human |
Hgene | CHD6 | C0027819 | Neuroblastoma | 1 | CTD_human |
Hgene | CHD6 | C0033578 | Prostatic Neoplasms | 1 | CTD_human |
Hgene | CHD6 | C0376358 | Malignant neoplasm of prostate | 1 | CTD_human |
Tgene | SPEN | C0033578 | Prostatic Neoplasms | 1 | CTD_human |
Tgene | SPEN | C0376358 | Malignant neoplasm of prostate | 1 | CTD_human |