FusionGDB Logo

Home

Download

Statistics

Examples

Help

Contact

Center for Computational Systems Medicine
leaf

FusionGeneSummary

leaf

FusionProtFeature

leaf

FusionGeneSequence

leaf

FusionGenePPI

leaf

RelatedDrugs

leaf

RelatedDiseases

Fusion gene ID: 27979

FusionGeneSummary for POLR2H_CHFR

check button Fusion gene summary
Fusion gene informationFusion gene name: POLR2H_CHFR
Fusion gene ID: 27979
HgeneTgene
Gene symbol

POLR2H

CHFR

Gene ID

5437

55743

Gene nameRNA polymerase II subunit Hcheckpoint with forkhead and ring finger domains
SynonymsRPABC3|RPB17|RPB8RNF116|RNF196
Cytomap

3q27.1

12q24.33

Type of geneprotein-codingprotein-coding
DescriptionDNA-directed RNA polymerases I, II, and III subunit RPABC3DNA-directed RNA polymerase II subunit HDNA-directed RNA polymerases I, II, and III 17.1 kDa polypeptideRPB8 homologpolymerase (RNA) II (DNA directed) polypeptide Hpolymerase (RNA) II subunit E3 ubiquitin-protein ligase CHFRRING finger protein 196RING-type E3 ubiquitin transferase CHFRcheckpoint with forkhead and ring finger domains, E3 ubiquitin protein ligase
Modification date2018052320180527
UniProtAcc

P52434

Q96EP1

Ensembl transtripts involved in fusion geneENST00000456318, ENST00000438240, 
ENST00000460083, ENST00000430783, 
ENST00000443489, ENST00000452961, 
ENST00000296223, ENST00000429568, 
ENST00000315585, ENST00000266880, 
ENST00000443047, ENST00000450056, 
ENST00000537522, ENST00000541837, 
ENST00000432561, ENST00000541341, 
Fusion gene scores* DoF score3 X 3 X 2=186 X 6 X 4=144
# samples 36
** MAII scorelog2(3/18*10)=0.736965594166206
effective Gene in Pan-Cancer Fusion Genes (eGinPCFGs).
DoF>8 and MAII>0
log2(6/144*10)=-1.26303440583379
possibly effective Gene in Pan-Cancer Fusion Genes (peGinPCFGs).
DoF>8 and MAII<0
Context

PubMed: POLR2H [Title/Abstract] AND CHFR [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
HgenePOLR2H

GO:0006366

transcription by RNA polymerase II

9852112

TgeneCHFR

GO:0000209

protein polyubiquitination

19182791

TgeneCHFR

GO:0019941

modification-dependent protein catabolic process

19182791


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
TCGALDLUADTCGA-86-7701-01APOLR2Hchr3

184081353

+CHFRchr12

133409823

-
* 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
5CDS-intronENST00000456318ENST00000315585POLR2Hchr3

184081353

+CHFRchr12

133409823

-
5CDS-intronENST00000456318ENST00000266880POLR2Hchr3

184081353

+CHFRchr12

133409823

-
5CDS-intronENST00000456318ENST00000443047POLR2Hchr3

184081353

+CHFRchr12

133409823

-
5CDS-intronENST00000456318ENST00000450056POLR2Hchr3

184081353

+CHFRchr12

133409823

-
5CDS-intronENST00000456318ENST00000537522POLR2Hchr3

184081353

+CHFRchr12

133409823

-
5CDS-intronENST00000456318ENST00000541837POLR2Hchr3

184081353

+CHFRchr12

133409823

-
5CDS-intronENST00000456318ENST00000432561POLR2Hchr3

184081353

+CHFRchr12

133409823

-
5CDS-intronENST00000456318ENST00000541341POLR2Hchr3

184081353

+CHFRchr12

133409823

-
intron-intronENST00000438240ENST00000315585POLR2Hchr3

184081353

+CHFRchr12

133409823

-
intron-intronENST00000438240ENST00000266880POLR2Hchr3

184081353

+CHFRchr12

133409823

-
intron-intronENST00000438240ENST00000443047POLR2Hchr3

184081353

+CHFRchr12

133409823

-
intron-intronENST00000438240ENST00000450056POLR2Hchr3

184081353

+CHFRchr12

133409823

-
intron-intronENST00000438240ENST00000537522POLR2Hchr3

184081353

+CHFRchr12

133409823

-
intron-intronENST00000438240ENST00000541837POLR2Hchr3

184081353

+CHFRchr12

133409823

-
intron-intronENST00000438240ENST00000432561POLR2Hchr3

184081353

+CHFRchr12

133409823

-
intron-intronENST00000438240ENST00000541341POLR2Hchr3

184081353

+CHFRchr12

133409823

-
intron-intronENST00000460083ENST00000315585POLR2Hchr3

184081353

+CHFRchr12

133409823

-
intron-intronENST00000460083ENST00000266880POLR2Hchr3

184081353

+CHFRchr12

133409823

-
intron-intronENST00000460083ENST00000443047POLR2Hchr3

184081353

+CHFRchr12

133409823

-
intron-intronENST00000460083ENST00000450056POLR2Hchr3

184081353

+CHFRchr12

133409823

-
intron-intronENST00000460083ENST00000537522POLR2Hchr3

184081353

+CHFRchr12

133409823

-
intron-intronENST00000460083ENST00000541837POLR2Hchr3

184081353

+CHFRchr12

133409823

-
intron-intronENST00000460083ENST00000432561POLR2Hchr3

184081353

+CHFRchr12

133409823

-
intron-intronENST00000460083ENST00000541341POLR2Hchr3

184081353

+CHFRchr12

133409823

-
5CDS-intronENST00000430783ENST00000315585POLR2Hchr3

184081353

+CHFRchr12

133409823

-
5CDS-intronENST00000430783ENST00000266880POLR2Hchr3

184081353

+CHFRchr12

133409823

-
5CDS-intronENST00000430783ENST00000443047POLR2Hchr3

184081353

+CHFRchr12

133409823

-
5CDS-intronENST00000430783ENST00000450056POLR2Hchr3

184081353

+CHFRchr12

133409823

-
5CDS-intronENST00000430783ENST00000537522POLR2Hchr3

184081353

+CHFRchr12

133409823

-
5CDS-intronENST00000430783ENST00000541837POLR2Hchr3

184081353

+CHFRchr12

133409823

-
5CDS-intronENST00000430783ENST00000432561POLR2Hchr3

184081353

+CHFRchr12

133409823

-
5CDS-intronENST00000430783ENST00000541341POLR2Hchr3

184081353

+CHFRchr12

133409823

-
5UTR-intronENST00000443489ENST00000315585POLR2Hchr3

184081353

+CHFRchr12

133409823

-
5UTR-intronENST00000443489ENST00000266880POLR2Hchr3

184081353

+CHFRchr12

133409823

-
5UTR-intronENST00000443489ENST00000443047POLR2Hchr3

184081353

+CHFRchr12

133409823

-
5UTR-intronENST00000443489ENST00000450056POLR2Hchr3

184081353

+CHFRchr12

133409823

-
5UTR-intronENST00000443489ENST00000537522POLR2Hchr3

184081353

+CHFRchr12

133409823

-
5UTR-intronENST00000443489ENST00000541837POLR2Hchr3

184081353

+CHFRchr12

133409823

-
5UTR-intronENST00000443489ENST00000432561POLR2Hchr3

184081353

+CHFRchr12

133409823

-
5UTR-intronENST00000443489ENST00000541341POLR2Hchr3

184081353

+CHFRchr12

133409823

-
5UTR-intronENST00000452961ENST00000315585POLR2Hchr3

184081353

+CHFRchr12

133409823

-
5UTR-intronENST00000452961ENST00000266880POLR2Hchr3

184081353

+CHFRchr12

133409823

-
5UTR-intronENST00000452961ENST00000443047POLR2Hchr3

184081353

+CHFRchr12

133409823

-
5UTR-intronENST00000452961ENST00000450056POLR2Hchr3

184081353

+CHFRchr12

133409823

-
5UTR-intronENST00000452961ENST00000537522POLR2Hchr3

184081353

+CHFRchr12

133409823

-
5UTR-intronENST00000452961ENST00000541837POLR2Hchr3

184081353

+CHFRchr12

133409823

-
5UTR-intronENST00000452961ENST00000432561POLR2Hchr3

184081353

+CHFRchr12

133409823

-
5UTR-intronENST00000452961ENST00000541341POLR2Hchr3

184081353

+CHFRchr12

133409823

-
5CDS-intronENST00000296223ENST00000315585POLR2Hchr3

184081353

+CHFRchr12

133409823

-
5CDS-intronENST00000296223ENST00000266880POLR2Hchr3

184081353

+CHFRchr12

133409823

-
5CDS-intronENST00000296223ENST00000443047POLR2Hchr3

184081353

+CHFRchr12

133409823

-
5CDS-intronENST00000296223ENST00000450056POLR2Hchr3

184081353

+CHFRchr12

133409823

-
5CDS-intronENST00000296223ENST00000537522POLR2Hchr3

184081353

+CHFRchr12

133409823

-
5CDS-intronENST00000296223ENST00000541837POLR2Hchr3

184081353

+CHFRchr12

133409823

-
5CDS-intronENST00000296223ENST00000432561POLR2Hchr3

184081353

+CHFRchr12

133409823

-
5CDS-intronENST00000296223ENST00000541341POLR2Hchr3

184081353

+CHFRchr12

133409823

-
5CDS-intronENST00000429568ENST00000315585POLR2Hchr3

184081353

+CHFRchr12

133409823

-
5CDS-intronENST00000429568ENST00000266880POLR2Hchr3

184081353

+CHFRchr12

133409823

-
5CDS-intronENST00000429568ENST00000443047POLR2Hchr3

184081353

+CHFRchr12

133409823

-
5CDS-intronENST00000429568ENST00000450056POLR2Hchr3

184081353

+CHFRchr12

133409823

-
5CDS-intronENST00000429568ENST00000537522POLR2Hchr3

184081353

+CHFRchr12

133409823

-
5CDS-intronENST00000429568ENST00000541837POLR2Hchr3

184081353

+CHFRchr12

133409823

-
5CDS-intronENST00000429568ENST00000432561POLR2Hchr3

184081353

+CHFRchr12

133409823

-
5CDS-intronENST00000429568ENST00000541341POLR2Hchr3

184081353

+CHFRchr12

133409823

-

Top

FusionProtFeatures for POLR2H_CHFR


check buttonMain function of each fusion partner protein. (from UniProt)
HgeneTgene
POLR2H

P52434

CHFR

Q96EP1

DNA-dependent RNA polymerase catalyzes the transcriptionof DNA into RNA using the four ribonucleoside triphosphates assubstrates. Common component of RNA polymerases I, II and IIIwhich synthesize ribosomal RNA precursors, mRNA precursors andmany functional non-coding RNAs, and small RNAs, such as 5S rRNAand tRNAs, respectively. {ECO:0000269|PubMed:9852112}. E3 ubiquitin-protein ligase that functions in theantephase checkpoint by actively delaying passage into mitosis inresponse to microtubule poisons. Acts in early prophase beforechromosome condensation, when the centrosome move apart from eachother along the periphery of the nucleus. Probably involved insignaling the presence of mitotic stress caused by microtubulepoisons by mediating the 'Lys-48'-linked ubiquitination of targetproteins, leading to their degradation by the proteasome. Promotesthe ubiquitination and subsequent degradation of AURKA and PLK1.Probably acts as a tumor suppressor, possibly by mediating thepolyubiquitination of HDAC1, leading to its degradation. May alsopromote the formation of 'Lys-63'-linked polyubiquitin chains andfunctions with the specific ubiquitin-conjugating UBC13-MMS2(UBE2N-UBE2V2) heterodimer. Substrates that are polyubiquitinatedat 'Lys-63' are usually not targeted for degradation, but arerather involved in signaling cellular stress.{ECO:0000269|PubMed:10935642, ECO:0000269|PubMed:11807090,ECO:0000269|PubMed:11912157, ECO:0000269|PubMed:14562038,ECO:0000269|PubMed:14694445, ECO:0000269|PubMed:18172500,ECO:0000269|PubMed:19182791}.

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


Top

FusionGeneSequence for POLR2H_CHFR


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).

Top

FusionGenePPI for POLR2H_CHFR


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
POLR2HCD40, NME2, MED10, MED29, MED19, MED26, POLR2A, POLR2C, POLR2B, POLR2E, POLR2G, POLR2H, POLR2K, POLR2L, POLR3D, RPAP2, POLR2J, GTF2F2, RUVBL2, POLR3H, GTF2B, POLR1A, INTS1, INTS3, INTS5, INTS6, BARD1, BRCA1, POLR3A, POLR2D, INTS10, POLR1C, POLR3B, METTL18, DNMT3B, DNMT3A, BAG3, SNRNP200, SART3, CEP57, ESR1, SRC, PSMB9, TCEB3, RNF2, UBE2W, UNK, CRCP, POLR1D, POLR1B, POLR2F, POLR3C, ZNRD1, POLR2I, SUPT5H, SNCA, RASSF8, POLR3E, USP37, WDR92, DLD, HSD17B10, URI1CHFRPML, EEF1G, CHFR, AURKA, MAD2L1, USP7, UBE2D1, UBE2D2, UBE2D3, UBE2D4, UBE2E1, UBE2E3, UBE2N, UBE2W, UBE2E2, HDAC1, PLK1, HLTF, SMARCB1, SMARCD1, SMARCA4, PARP1, KIF22, RELA, UBE2I, LRP1, RNF7, TRIM9, RNF125, CBLC, RANBP2, MCM2, CDC20, VIM, CDK5, PCNA, HDAC2, SIN3A, UBE2L1, DTX3, GRB14, GRB10, PBK, SIRT1, C5orf24, TRIM25


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


Top

RelatedDrugs for POLR2H_CHFR


check button Drugs targeting genes involved in this fusion gene.
(DrugBank Version 5.1.0 2018-04-02)
PartnerGeneUniProtAccDrugBank IDDrug nameDrug activityDrug typeDrug status

Top

RelatedDiseases for POLR2H_CHFR


check button Diseases associated with fusion partners.
(DisGeNet 4.0)
PartnerGeneDisease IDDisease name# pubmedsSource
TgeneCHFRC0007131Non-Small Cell Lung Carcinoma1CTD_human
TgeneCHFRC0014170Endometrial Neoplasms1CTD_human
TgeneCHFRC0038356Stomach Neoplasms1CTD_human