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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: 6972

FusionGeneSummary for CHD2_POLI

check button Fusion gene summary
Fusion gene informationFusion gene name: CHD2_POLI
Fusion gene ID: 6972
HgeneTgene
Gene symbol

CHD2

POLI

Gene ID

1826

11201

Gene nameDS cell adhesion moleculeDNA polymerase iota
SynonymsCHD2|CHD2-42|CHD2-52RAD30B|RAD3OB|eta2
Cytomap

21q22.2

18q21.2

Type of geneprotein-codingprotein-coding
DescriptionDown syndrome cell adhesion moleculeDNA polymerase iotaRAD30 homolog Bpolymerase (DNA directed) iotapolymerase (DNA) iotapolymerase (DNA-directed), iota
Modification date2018051920180519
UniProtAcc

O14647

Q9UNA4

Ensembl transtripts involved in fusion geneENST00000394196, ENST00000557381, 
ENST00000420239, ENST00000536619, 
ENST00000554122, 
ENST00000579534, 
ENST00000406285, ENST00000579434, 
ENST00000217800, ENST00000582366, 
Fusion gene scores* DoF score11 X 9 X 5=4951 X 1 X 1=1
# samples 122
** MAII scorelog2(12/495*10)=-2.04439411935845
possibly effective Gene in Pan-Cancer Fusion Genes (peGinPCFGs).
DoF>8 and MAII<0
log2(2/1*10)=4.32192809488736
Context

PubMed: CHD2 [Title/Abstract] AND POLI [Title/Abstract] AND fusion [Title/Abstract]

Functional or gene categories assigned by FusionGDB annotationDDR (DNA damage repair) gene involved fusion gene, retained protein feature but frameshift.
* 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
HgeneCHD2

GO:0042327

positive regulation of phosphorylation

19196994

HgeneCHD2

GO:0048842

positive regulation of axon extension involved in axon guidance

18585357


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
ChiTaRS3.1BC142730CHD2chr15

93444530

+POLIchr18

51797728

+
ChiTaRS3.1BC142674CHD2chr15

93444530

+POLIchr18

51797728

+
* 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
Frame-shiftENST00000394196ENST00000579534CHD2chr15

93444530

+POLIchr18

51797728

+
Frame-shiftENST00000394196ENST00000406285CHD2chr15

93444530

+POLIchr18

51797728

+
5CDS-intronENST00000394196ENST00000579434CHD2chr15

93444530

+POLIchr18

51797728

+
5CDS-intronENST00000394196ENST00000217800CHD2chr15

93444530

+POLIchr18

51797728

+
5CDS-intronENST00000394196ENST00000582366CHD2chr15

93444530

+POLIchr18

51797728

+
Frame-shiftENST00000557381ENST00000579534CHD2chr15

93444530

+POLIchr18

51797728

+
Frame-shiftENST00000557381ENST00000406285CHD2chr15

93444530

+POLIchr18

51797728

+
5CDS-intronENST00000557381ENST00000579434CHD2chr15

93444530

+POLIchr18

51797728

+
5CDS-intronENST00000557381ENST00000217800CHD2chr15

93444530

+POLIchr18

51797728

+
5CDS-intronENST00000557381ENST00000582366CHD2chr15

93444530

+POLIchr18

51797728

+
Frame-shiftENST00000420239ENST00000579534CHD2chr15

93444530

+POLIchr18

51797728

+
Frame-shiftENST00000420239ENST00000406285CHD2chr15

93444530

+POLIchr18

51797728

+
5CDS-intronENST00000420239ENST00000579434CHD2chr15

93444530

+POLIchr18

51797728

+
5CDS-intronENST00000420239ENST00000217800CHD2chr15

93444530

+POLIchr18

51797728

+
5CDS-intronENST00000420239ENST00000582366CHD2chr15

93444530

+POLIchr18

51797728

+
intron-3CDSENST00000536619ENST00000579534CHD2chr15

93444530

+POLIchr18

51797728

+
intron-3CDSENST00000536619ENST00000406285CHD2chr15

93444530

+POLIchr18

51797728

+
intron-intronENST00000536619ENST00000579434CHD2chr15

93444530

+POLIchr18

51797728

+
intron-intronENST00000536619ENST00000217800CHD2chr15

93444530

+POLIchr18

51797728

+
intron-intronENST00000536619ENST00000582366CHD2chr15

93444530

+POLIchr18

51797728

+
3UTR-3CDSENST00000554122ENST00000579534CHD2chr15

93444530

+POLIchr18

51797728

+
3UTR-3CDSENST00000554122ENST00000406285CHD2chr15

93444530

+POLIchr18

51797728

+
3UTR-intronENST00000554122ENST00000579434CHD2chr15

93444530

+POLIchr18

51797728

+
3UTR-intronENST00000554122ENST00000217800CHD2chr15

93444530

+POLIchr18

51797728

+
3UTR-intronENST00000554122ENST00000582366CHD2chr15

93444530

+POLIchr18

51797728

+

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FusionProtFeatures for CHD2_POLI


check buttonMain function of each fusion partner protein. (from UniProt)
HgeneTgene
CHD2

O14647

POLI

Q9UNA4

DNA-binding helicase that specifically binds to thepromoter of target genes, leading to chromatin remodeling,possibly by promoting deposition of histone H3.3. Involved inmyogenesis via interaction with MYOD1: binds to myogenic generegulatory sequences and mediates incorporation of histone H3.3prior to the onset of myogenic gene expression, promoting theirexpression (By similarity). {ECO:0000250}. Error-prone DNA polymerase specifically involved in DNArepair. Plays an important role in translesion synthesis, wherethe normal high-fidelity DNA polymerases cannot proceed and DNAsynthesis stalls. Favors Hoogsteen base-pairing in the activesite. Inserts the correct base with high-fidelity opposite anadenosine template. Exhibits low fidelity and efficiency oppositea thymidine template, where it will preferentially insertguanosine. May play a role in hypermutation of immunogobulingenes. Forms a Schiff base with 5'-deoxyribose phosphate at abasicsites, but may not have lyase activity.{ECO:0000269|PubMed:11013228, ECO:0000269|PubMed:11251121,ECO:0000269|PubMed:11387224, ECO:0000269|PubMed:12410315,ECO:0000269|PubMed:14630940, ECO:0000269|PubMed:15199127,ECO:0000269|PubMed:15254543}.

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 CHD2_POLI


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 CHD2_POLI


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
CHD2SIRT7, SRPK2, MID2, THAP1, TEKT1, TRIM41, BEND7, EED, CTR9, LEO1, PAF1, TAF9, UHRF2POLIDVL2, DAZAP2, CALCOCO2, UBB, UBC, PCNA, XRCC1, REV1, POLH, APP, RNF11, TRIM23, TRAF6, ZBTB44, TRIM39, TMEM239, TP53, MTNR1B


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 CHD2_POLI


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 CHD2_POLI


check button Diseases associated with fusion partners.
(DisGeNet 4.0)
PartnerGeneDisease IDDisease name# pubmedsSource
HgeneCHD2C0014544Epilepsy1CTD_human
HgeneCHD2C3809278EPILEPTIC ENCEPHALOPATHY, CHILDHOOD-ONSET1UNIPROT