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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: 36767

FusionGeneSummary for SUPT16H_CHD8

check button Fusion gene summary
Fusion gene informationFusion gene name: SUPT16H_CHD8
Fusion gene ID: 36767
HgeneTgene
Gene symbol

SUPT16H

CHD8

Gene ID

11198

57680

Gene nameSPT16 homolog, facilitates chromatin remodeling subunitchromodomain helicase DNA binding protein 8
SynonymsCDC68|FACTP140|SPT16|SPT16/CDC68AUTS18|HELSNF1
Cytomap

14q11.2

14q11.2

Type of geneprotein-codingprotein-coding
DescriptionFACT complex subunit SPT16FACT 140 kDa subunitchromatin-specific transcription elongation factor 140 kDa subunitfacilitates chromatin remodeling 140 kDa subunitfacilitates chromatin transcription complex subunit SPT16hSPT16suppressor of Ty 16 homolochromodomain-helicase-DNA-binding protein 8ATP-dependent helicase CHD8axis duplication inhibitorduplinhelicase with SNF2 domain 1
Modification date2018052320180519
UniProtAcc

Q9Y5B9

Q9HCK8

Ensembl transtripts involved in fusion geneENST00000216297, ENST00000555943, 
ENST00000430710, ENST00000399982, 
ENST00000557364, ENST00000555962, 
Fusion gene scores* DoF score3 X 3 X 3=274 X 6 X 4=96
# samples 36
** MAII scorelog2(3/27*10)=0.15200309344505
effective Gene in Pan-Cancer Fusion Genes (eGinPCFGs).
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: SUPT16H [Title/Abstract] AND CHD8 [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
TgeneCHD8

GO:0030178

negative regulation of Wnt signaling pathway

18378692

TgeneCHD8

GO:0045893

positive regulation of transcription, DNA-templated

17938208

TgeneCHD8

GO:0060070

canonical Wnt signaling pathway

18378692

TgeneCHD8

GO:0090090

negative regulation of canonical Wnt signaling pathway

22083958


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
TCGARVHNSCTCGA-CQ-6222-01ASUPT16Hchr14

21852021

-CHD8chr14

21878147

-
* 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
In-frameENST00000216297ENST00000430710SUPT16Hchr14

21852021

-CHD8chr14

21878147

-
In-frameENST00000216297ENST00000399982SUPT16Hchr14

21852021

-CHD8chr14

21878147

-
In-frameENST00000216297ENST00000557364SUPT16Hchr14

21852021

-CHD8chr14

21878147

-
5CDS-intronENST00000216297ENST00000555962SUPT16Hchr14

21852021

-CHD8chr14

21878147

-
In-frameENST00000555943ENST00000430710SUPT16Hchr14

21852021

-CHD8chr14

21878147

-
In-frameENST00000555943ENST00000399982SUPT16Hchr14

21852021

-CHD8chr14

21878147

-
In-frameENST00000555943ENST00000557364SUPT16Hchr14

21852021

-CHD8chr14

21878147

-
5CDS-intronENST00000555943ENST00000555962SUPT16Hchr14

21852021

-CHD8chr14

21878147

-

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FusionProtFeatures for SUPT16H_CHD8


check buttonMain function of each fusion partner protein. (from UniProt)
HgeneTgene
SUPT16H

Q9Y5B9

CHD8

Q9HCK8

Component of the FACT complex, a general chromatinfactor that acts to reorganize nucleosomes. The FACT complex isinvolved in multiple processes that require DNA as a template suchas mRNA elongation, DNA replication and DNA repair. Duringtranscription elongation the FACT complex acts as a histonechaperone that both destabilizes and restores nucleosomalstructure. It facilitates the passage of RNA polymerase II andtranscription by promoting the dissociation of one histone H2A-H2Bdimer from the nucleosome, then subsequently promotes thereestablishment of the nucleosome following the passage of RNApolymerase II. The FACT complex is probably also involved inphosphorylation of 'Ser-392' of p53/TP53 via its association withCK2 (casein kinase II). {ECO:0000269|PubMed:10912001,ECO:0000269|PubMed:11239457, ECO:0000269|PubMed:12934006,ECO:0000269|PubMed:16713563, ECO:0000269|PubMed:9489704,ECO:0000269|PubMed:9836642}.

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
TgeneCHD8chr14:21852021chr14:21878147ENST00000399982-8372069_20987422582Compositional biasSer-rich
TgeneCHD8chr14:21852021chr14:21878147ENST00000399982-8372493_25087422582Compositional biasHis-rich
TgeneCHD8chr14:21852021chr14:21878147ENST00000399982-8372539_25817422582Compositional biasAsp-rich
TgeneCHD8chr14:21852021chr14:21878147ENST00000430710-9382069_20984632303Compositional biasSer-rich
TgeneCHD8chr14:21852021chr14:21878147ENST00000430710-9382493_25084632303Compositional biasHis-rich
TgeneCHD8chr14:21852021chr14:21878147ENST00000430710-9382539_25814632303Compositional biasAsp-rich
TgeneCHD8chr14:21852021chr14:21878147ENST00000557364-9382069_20987422582Compositional biasSer-rich
TgeneCHD8chr14:21852021chr14:21878147ENST00000557364-9382493_25087422582Compositional biasHis-rich
TgeneCHD8chr14:21852021chr14:21878147ENST00000557364-9382539_25817422582Compositional biasAsp-rich
TgeneCHD8chr14:21852021chr14:21878147ENST00000399982-8371137_12887422582DomainHelicase C-terminal
TgeneCHD8chr14:21852021chr14:21878147ENST00000399982-837823_9977422582DomainHelicase ATP-binding
TgeneCHD8chr14:21852021chr14:21878147ENST00000430710-9381137_12884632303DomainHelicase C-terminal
TgeneCHD8chr14:21852021chr14:21878147ENST00000430710-938642_7094632303DomainChromo 1
TgeneCHD8chr14:21852021chr14:21878147ENST00000430710-938724_7904632303DomainChromo 2
TgeneCHD8chr14:21852021chr14:21878147ENST00000430710-938823_9974632303DomainHelicase ATP-binding
TgeneCHD8chr14:21852021chr14:21878147ENST00000557364-9381137_12887422582DomainHelicase C-terminal
TgeneCHD8chr14:21852021chr14:21878147ENST00000557364-938823_9977422582DomainHelicase ATP-binding
TgeneCHD8chr14:21852021chr14:21878147ENST00000399982-837948_9517422582MotifDEAH box
TgeneCHD8chr14:21852021chr14:21878147ENST00000430710-938948_9514632303MotifDEAH box
TgeneCHD8chr14:21852021chr14:21878147ENST00000557364-938948_9517422582MotifDEAH box
TgeneCHD8chr14:21852021chr14:21878147ENST00000399982-837836_8437422582Nucleotide bindingATP
TgeneCHD8chr14:21852021chr14:21878147ENST00000430710-938836_8434632303Nucleotide bindingATP
TgeneCHD8chr14:21852021chr14:21878147ENST00000557364-938836_8437422582Nucleotide bindingATP

- In-frame and not-retained protein feature among the 13 regional features.
>>
PartnerGeneHbpTbpENSTStrandBPexonTotalExonProtein feature loci*BPlociTotalLenProtein featureProtein feature note
HgeneSUPT16Hchr14:21852021chr14:21878147ENST00000216297-126432_507221048Coiled coilOntology_term=ECO:0000255
HgeneSUPT16Hchr14:21852021chr14:21878147ENST00000216297-126926_1011221048Compositional biasNote=Glu-rich (acidic)
TgeneCHD8chr14:21852021chr14:21878147ENST00000399982-837292_4107422582Compositional biasGln-rich
TgeneCHD8chr14:21852021chr14:21878147ENST00000430710-938292_4104632303Compositional biasGln-rich
TgeneCHD8chr14:21852021chr14:21878147ENST00000557364-938292_4107422582Compositional biasGln-rich
TgeneCHD8chr14:21852021chr14:21878147ENST00000399982-837642_7097422582DomainChromo 1
TgeneCHD8chr14:21852021chr14:21878147ENST00000399982-837724_7907422582DomainChromo 2
TgeneCHD8chr14:21852021chr14:21878147ENST00000557364-938642_7097422582DomainChromo 1
TgeneCHD8chr14:21852021chr14:21878147ENST00000557364-938724_7907422582DomainChromo 2


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FusionGeneSequence for SUPT16H_CHD8


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 SUPT16H_CHD8


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
SUPT16HBRCC3, PRKAA1, POLR1A, POLR1E, SSRP1, CHD1L, MCM4, PAF1, PARP1, H2AFX, MKL1, H3F3A, TRIM33, TAL1, CDK9, SUPT16H, MMS22L, TONSL, SMARCAD1, SREK1, SOX2, HDGF, ELAVL1, XRCC5, CUL3, CDK2, CAND1, FYTTD1, CSNK2A1, CSNK2B, SAP18, RTF1, LEO1, TOP1, DHX15, CTR9, IK, PRPF4B, SNRPD2, NCSTN, S100A9, HNRNPM, NHP2L1, DDX21, PRPF6, SF3A1, SNRPD1, PRPF3, ACIN1, EEF1A1, RBM25, MSH6, PRPF8, USP39, MSH2, PSIP1, CENPA, ESR1, FMNL1, VCP, PNKP, CD81, IGSF8, ICAM1, SRPK2, FTH1, QRICH1, RNF20, ATRX, HIST1H2AB, MOV10, NXF1, BRCA1, CUL7, OBSL1, EED, RNF2, BMI1, SUMO2, ABCE1, RPA4, SPIN2B, RPA2, SPIN1, TIPIN, RNF146, POLB, APLF, HIST1H2BA, MAFF, FBXW11, BRD3, CDK12, HMGB1, IWS1, NAP1L1, PES1, SRRM1, CDK11A, HMGB2, HMGB3, KRI1, TOP2B, ZC3H18, SFN, NTRK1, IFI16, MED4, EWSR1, CEP97, CNTROB, SPICE1, CEP164, DCTN1, POC1B, STIL, HIST1H3E, DAXX, HNRNPU, NPM1, RPL10, ETAA1, CENPQ, NF2, NANOG, UBR5, SBF1, HIST1H3A, MACROD1, H2AFY2, XPC, XRCC6, HIST1H4A, NAA40, WDR76, ALX3, TEAD2, L3MBTL1, CETN1, SIX2, POLL, RPA3, WRN, COX15, DLD, PDHA1, VDAC1, TRIM25, YAP1, MTF1CHD8TOP3B, 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


check button - Retained PPIs in in-frame fusion.
PartnerGeneHbpTbpENSTStrandBPexonTotalExonProtein feature loci*BPlociTotalLenStill interaction with
TgeneCHD8chr14:21852021chr14:21878147ENST00000399982-8371789_23027422582FAM124B
TgeneCHD8chr14:21852021chr14:21878147ENST00000430710-9381789_23024632303FAM124B
TgeneCHD8chr14:21852021chr14:21878147ENST00000557364-9381789_23027422582FAM124B


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 SUPT16H_CHD8


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 SUPT16H_CHD8


check button Diseases associated with fusion partners.
(DisGeNet 4.0)
PartnerGeneDisease IDDisease name# pubmedsSource
TgeneCHD8C0004352Autistic Disorder1CTD_human
TgeneCHD8C0017178Gastrointestinal Diseases1CTD_human
TgeneCHD8C0221355Macrocephaly1CTD_human
TgeneCHD8C1510586Autism Spectrum Disorders1CTD_human