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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: 27977

FusionGeneSummary for POLR2F_PIH1D1

check button Fusion gene summary
Fusion gene informationFusion gene name: POLR2F_PIH1D1
Fusion gene ID: 27977
HgeneTgene
Gene symbol

POLR2F

PIH1D1

Gene ID

5435

55011

Gene nameRNA polymerase II subunit FPIH1 domain containing 1
SynonymsHRBP14.4|POLRF|RPABC14.4|RPABC2|RPB14.4|RPB6|RPC15NOP17
Cytomap

22q13.1

19q13.33

Type of geneprotein-codingprotein-coding
DescriptionDNA-directed RNA polymerases I, II, and III subunit RPABC2DNA-directed RNA polymerase II subunit FDNA-directed RNA polymerases I, II, and III 14.4 kDa polypeptideRNA Polymerase II subunit 14.4 kDRNA polymerases I, II, and III subunit ABC2polymerase (PIH1 domain-containing protein 1nucleolar protein 17 homolog
Modification date2018052320180523
UniProtAcc

P61218

Q9NWS0

Ensembl transtripts involved in fusion geneENST00000407936, ENST00000405557, 
ENST00000442738, ENST00000460648, 
ENST00000488684, ENST00000606538, 
ENST00000470701, ENST00000608713, 
ENST00000602226, ENST00000262265, 
ENST00000596049, 
Fusion gene scores* DoF score7 X 4 X 5=1401 X 1 X 1=1
# samples 71
** MAII scorelog2(7/140*10)=-1
possibly effective Gene in Pan-Cancer Fusion Genes (peGinPCFGs).
DoF>8 and MAII<0		log2(1/1*10)=3.32192809488736
Context

PubMed: POLR2F [Title/Abstract] AND PIH1D1 [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
HgenePOLR2F

GO:0006366

transcription by RNA polymerase II

9852112

TgenePIH1D1

GO:0031334

positive regulation of protein complex assembly

24036451


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
ChiTaRS3.1BF961261POLR2Fchr22

38368835

+PIH1D1chr19

49949948

-
* 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
intron-5UTRENST00000407936ENST00000602226POLR2Fchr22

38368835

+PIH1D1chr19

49949948

-
intron-5UTRENST00000407936ENST00000262265POLR2Fchr22

38368835

+PIH1D1chr19

49949948

-
intron-5UTRENST00000407936ENST00000596049POLR2Fchr22

38368835

+PIH1D1chr19

49949948

-
intron-5UTRENST00000405557ENST00000602226POLR2Fchr22

38368835

+PIH1D1chr19

49949948

-
intron-5UTRENST00000405557ENST00000262265POLR2Fchr22

38368835

+PIH1D1chr19

49949948

-
intron-5UTRENST00000405557ENST00000596049POLR2Fchr22

38368835

+PIH1D1chr19

49949948

-
intron-5UTRENST00000442738ENST00000602226POLR2Fchr22

38368835

+PIH1D1chr19

49949948

-
intron-5UTRENST00000442738ENST00000262265POLR2Fchr22

38368835

+PIH1D1chr19

49949948

-
intron-5UTRENST00000442738ENST00000596049POLR2Fchr22

38368835

+PIH1D1chr19

49949948

-
intron-5UTRENST00000460648ENST00000602226POLR2Fchr22

38368835

+PIH1D1chr19

49949948

-
intron-5UTRENST00000460648ENST00000262265POLR2Fchr22

38368835

+PIH1D1chr19

49949948

-
intron-5UTRENST00000460648ENST00000596049POLR2Fchr22

38368835

+PIH1D1chr19

49949948

-
intron-5UTRENST00000488684ENST00000602226POLR2Fchr22

38368835

+PIH1D1chr19

49949948

-
intron-5UTRENST00000488684ENST00000262265POLR2Fchr22

38368835

+PIH1D1chr19

49949948

-
intron-5UTRENST00000488684ENST00000596049POLR2Fchr22

38368835

+PIH1D1chr19

49949948

-
intron-5UTRENST00000606538ENST00000602226POLR2Fchr22

38368835

+PIH1D1chr19

49949948

-
intron-5UTRENST00000606538ENST00000262265POLR2Fchr22

38368835

+PIH1D1chr19

49949948

-
intron-5UTRENST00000606538ENST00000596049POLR2Fchr22

38368835

+PIH1D1chr19

49949948

-
intron-5UTRENST00000470701ENST00000602226POLR2Fchr22

38368835

+PIH1D1chr19

49949948

-
intron-5UTRENST00000470701ENST00000262265POLR2Fchr22

38368835

+PIH1D1chr19

49949948

-
intron-5UTRENST00000470701ENST00000596049POLR2Fchr22

38368835

+PIH1D1chr19

49949948

-
intron-5UTRENST00000608713ENST00000602226POLR2Fchr22

38368835

+PIH1D1chr19

49949948

-
intron-5UTRENST00000608713ENST00000262265POLR2Fchr22

38368835

+PIH1D1chr19

49949948

-
intron-5UTRENST00000608713ENST00000596049POLR2Fchr22

38368835

+PIH1D1chr19

49949948

-

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FusionProtFeatures for POLR2F_PIH1D1


check buttonMain function of each fusion partner protein. (from UniProt)
HgeneTgene
POLR2F

P61218

PIH1D1

Q9NWS0

DNA-dependent RNA polymerases catalyze 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. Pol II is the central component of thebasal RNA polymerase II transcription machinery. Pols are composedof mobile elements that move relative to each other. In Pol II,POLR2F/RPB6 is part of the clamp element and together with partsof RPB1 and RPB2 forms a pocket to which the RPB4-RPB7 subcomplexbinds (By similarity). {ECO:0000250, ECO:0000269|PubMed:9852112}. Involved in the assembly of C/D box small nucleolarribonucleoprotein (snoRNP) particles (PubMed:17636026). Recruitsthe SWI/SNF complex to the core promoter of rRNA genes andenhances pre-rRNA transcription (PubMed:22368283,PubMed:24036451). Mediates interaction of TELO2 with the R2TPcomplex which is necessary for the stability of MTOR and SMG1(PubMed:20864032). Positively regulates the assembly and activityof the mTORC1 complex (PubMed:24036451).{ECO:0000269|PubMed:17636026, ECO:0000269|PubMed:20864032,ECO:0000269|PubMed:22368283, ECO:0000269|PubMed:24036451}.

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 POLR2F_PIH1D1


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 POLR2F_PIH1D1


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


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 POLR2F_PIH1D1


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 POLR2F_PIH1D1


check button Diseases associated with fusion partners.
(DisGeNet 4.0)
PartnerGeneDisease IDDisease name# pubmedsSource