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Fusion gene ID: 7028 |
FusionGeneSummary for CHD8_KIAA1211 |
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Fusion gene information | Fusion gene name: CHD8_KIAA1211 | Fusion gene ID: 7028 | Hgene | Tgene | Gene symbol | CHD8 | KIAA1211 | Gene ID | 57680 | 57482 |
Gene name | chromodomain helicase DNA binding protein 8 | KIAA1211 | |
Synonyms | AUTS18|HELSNF1 | - | |
Cytomap | 14q11.2 | 4q12 | |
Type of gene | protein-coding | protein-coding | |
Description | chromodomain-helicase-DNA-binding protein 8ATP-dependent helicase CHD8axis duplication inhibitorduplinhelicase with SNF2 domain 1 | uncharacterized protein KIAA1211 | |
Modification date | 20180519 | 20180519 | |
UniProtAcc | Q9HCK8 | Q6ZU35 | |
Ensembl transtripts involved in fusion gene | ENST00000430710, ENST00000399982, ENST00000557364, ENST00000555962, | ENST00000264229, ENST00000541073, ENST00000504228, ENST00000505410, | |
Fusion gene scores | * DoF score | 9 X 8 X 8=576 | 6 X 4 X 4=96 |
# samples | 11 | 6 | |
** MAII score | log2(11/576*10)=-2.38856528791765 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: CHD8 [Title/Abstract] AND KIAA1211 [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 |
Hgene | CHD8 | GO:0030178 | negative regulation of Wnt signaling pathway | 18378692 |
Hgene | CHD8 | GO:0045893 | positive regulation of transcription, DNA-templated | 17938208 |
Hgene | CHD8 | GO:0060070 | canonical Wnt signaling pathway | 18378692 |
Hgene | CHD8 | GO:0090090 | negative regulation of canonical Wnt signaling pathway | 22083958 |
![]() (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 | LGG | TCGA-DU-7302-01A | CHD8 | chr14 | 21924191 | - | KIAA1211 | chr4 | 57045450 | + |
* 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 |
intron-5UTR | ENST00000430710 | ENST00000264229 | CHD8 | chr14 | 21924191 | - | KIAA1211 | chr4 | 57045450 | + |
intron-intron | ENST00000430710 | ENST00000541073 | CHD8 | chr14 | 21924191 | - | KIAA1211 | chr4 | 57045450 | + |
intron-intron | ENST00000430710 | ENST00000504228 | CHD8 | chr14 | 21924191 | - | KIAA1211 | chr4 | 57045450 | + |
intron-intron | ENST00000430710 | ENST00000505410 | CHD8 | chr14 | 21924191 | - | KIAA1211 | chr4 | 57045450 | + |
intron-5UTR | ENST00000399982 | ENST00000264229 | CHD8 | chr14 | 21924191 | - | KIAA1211 | chr4 | 57045450 | + |
intron-intron | ENST00000399982 | ENST00000541073 | CHD8 | chr14 | 21924191 | - | KIAA1211 | chr4 | 57045450 | + |
intron-intron | ENST00000399982 | ENST00000504228 | CHD8 | chr14 | 21924191 | - | KIAA1211 | chr4 | 57045450 | + |
intron-intron | ENST00000399982 | ENST00000505410 | CHD8 | chr14 | 21924191 | - | KIAA1211 | chr4 | 57045450 | + |
5UTR-5UTR | ENST00000557364 | ENST00000264229 | CHD8 | chr14 | 21924191 | - | KIAA1211 | chr4 | 57045450 | + |
5UTR-intron | ENST00000557364 | ENST00000541073 | CHD8 | chr14 | 21924191 | - | KIAA1211 | chr4 | 57045450 | + |
5UTR-intron | ENST00000557364 | ENST00000504228 | CHD8 | chr14 | 21924191 | - | KIAA1211 | chr4 | 57045450 | + |
5UTR-intron | ENST00000557364 | ENST00000505410 | CHD8 | chr14 | 21924191 | - | KIAA1211 | chr4 | 57045450 | + |
intron-5UTR | ENST00000555962 | ENST00000264229 | CHD8 | chr14 | 21924191 | - | KIAA1211 | chr4 | 57045450 | + |
intron-intron | ENST00000555962 | ENST00000541073 | CHD8 | chr14 | 21924191 | - | KIAA1211 | chr4 | 57045450 | + |
intron-intron | ENST00000555962 | ENST00000504228 | CHD8 | chr14 | 21924191 | - | KIAA1211 | chr4 | 57045450 | + |
intron-intron | ENST00000555962 | ENST00000505410 | CHD8 | chr14 | 21924191 | - | KIAA1211 | chr4 | 57045450 | + |
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FusionProtFeatures for CHD8_KIAA1211 |
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Hgene | Tgene |
CHD8 | KIAA1211 |
![]() * 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 CHD8_KIAA1211 |
![]() (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 CHD8_KIAA1211 |
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Hgene | Hgene's interactors | Tgene | Tgene's interactors |
CHD8 | TOP3B, TCERG1, CTCF, ZNF143, CTDP1, WDR5, CTNNB1, TP53, CASR, ASH2L, RBBP5, CREB1, USF1, TERF1, TERF2, AR, SIRT7, SMAD3, CHD7, SOX2, LMNA, RCHY1, NXF1, PSME3, SPINT2, RFPL4B, CARD8, AP2M1, PSMC3, FBXW11, U2AF2, WDR18, DYNLT1, CDC27, KPNA1, UHRF1BP1L, KPNA6, MSH6, KPNB1, TUBGCP4, RAB4B, ALDH1L2, ZNF707, USP37, SNW1, CDC5L, WHSC1L1, BRD4, IKZF5, YAF2, NFATC2IP, PIP4K2A, PCDH20, XAGE1B, TBL1Y, NCAPH2, UHRF2 | KIAA1211 | UBC, CAPZA2, NTRK1, FLNA, MYO19, MYO18A, GLI1 |
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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 CHD8_KIAA1211 |
![]() (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 CHD8_KIAA1211 |
![]() (DisGeNet 4.0) |
Partner | Gene | Disease ID | Disease name | # pubmeds | Source |
Hgene | CHD8 | C0004352 | Autistic Disorder | 1 | CTD_human |
Hgene | CHD8 | C0017178 | Gastrointestinal Diseases | 1 | CTD_human |
Hgene | CHD8 | C0221355 | Macrocephaly | 1 | CTD_human |
Hgene | CHD8 | C1510586 | Autism Spectrum Disorders | 1 | CTD_human |