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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: 27792

FusionGeneSummary for PML_POLN

check button Fusion gene summary
Fusion gene informationFusion gene name: PML_POLN
Fusion gene ID: 27792
HgeneTgene
Gene symbol

PML

POLN

Gene ID

5371

353497

Gene namepromyelocytic leukemiaDNA polymerase nu
SynonymsMYL|PP8675|RNF71|TRIM19POL4P
Cytomap

15q24.1

4p16.3

Type of geneprotein-codingprotein-coding
Descriptionprotein PMLPML/RARA fusionRING finger protein 71probable transcription factor PMLpromyelocytic leukemia proteinpromyelocytic leukemia, inducer oftripartite motif protein TRIM19tripartite motif-containing protein 19DNA polymerase nuDNA polymerase NDNA polymerase POL4Ppolymerase (DNA directed) nupolymerase (DNA) nu
Modification date2018052320180523
UniProtAcc

P29590

Q7Z5Q5

Ensembl transtripts involved in fusion geneENST00000395135, ENST00000395132, 
ENST00000268059, ENST00000354026, 
ENST00000268058, ENST00000565898, 
ENST00000569477, ENST00000569965, 
ENST00000567543, ENST00000435786, 
ENST00000436891, ENST00000564428, 
ENST00000359928, ENST00000563500, 
ENST00000569161, 		ENST00000382865, 
ENST00000511885, ENST00000515357, 
Fusion gene scores* DoF score5 X 10 X 4=20012 X 7 X 9=756
# samples 2712
** MAII scorelog2(27/200*10)=0.432959407276106
effective Gene in Pan-Cancer Fusion Genes (eGinPCFGs).
DoF>8 and MAII>0		log2(12/756*10)=-2.65535182861255
possibly effective Gene in Pan-Cancer Fusion Genes (peGinPCFGs).
DoF>8 and MAII<0
Context

PubMed: PML [Title/Abstract] AND POLN [Title/Abstract] AND fusion [Title/Abstract]

Functional or gene categories assigned by FusionGDB annotationTumor suppressor gene involved fusion gene, retained protein feature but frameshift.
DDR (DNA damage repair) gene involved fusion gene, in-frame but not retained their domain.
DDR (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
HgenePML

GO:0001666

response to hypoxia

16915281

HgenePML

GO:0030308

negative regulation of cell growth

9448006

HgenePML

GO:0034097

response to cytokine

9412458

HgenePML

GO:0043161

proteasome-mediated ubiquitin-dependent protein catabolic process

22406621

HgenePML

GO:0045087

innate immune response

18248090

HgenePML

GO:0045892

negative regulation of transcription, DNA-templated

9448006

HgenePML

GO:0051457

maintenance of protein location in nucleus

17332504

HgenePML

GO:0065003

protein-containing complex assembly

12915590

HgenePML

GO:0090398

cellular senescence

22002537|22117195|23431171

HgenePML

GO:1902187

negative regulation of viral release from host cell

18248090

TgenePOLN

GO:0019985

translesion synthesis

20102227


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
TCGARVBRCATCGA-HN-A2NL-01APMLchr15

74325755

+POLNchr4

2097660

-
* 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-shiftENST00000395135ENST00000382865PMLchr15

74325755

+POLNchr4

2097660

-
Frame-shiftENST00000395135ENST00000511885PMLchr15

74325755

+POLNchr4

2097660

-
5CDS-intronENST00000395135ENST00000515357PMLchr15

74325755

+POLNchr4

2097660

-
intron-3CDSENST00000395132ENST00000382865PMLchr15

74325755

+POLNchr4

2097660

-
intron-3CDSENST00000395132ENST00000511885PMLchr15

74325755

+POLNchr4

2097660

-
intron-intronENST00000395132ENST00000515357PMLchr15

74325755

+POLNchr4

2097660

-
Frame-shiftENST00000268059ENST00000382865PMLchr15

74325755

+POLNchr4

2097660

-
Frame-shiftENST00000268059ENST00000511885PMLchr15

74325755

+POLNchr4

2097660

-
5CDS-intronENST00000268059ENST00000515357PMLchr15

74325755

+POLNchr4

2097660

-
Frame-shiftENST00000354026ENST00000382865PMLchr15

74325755

+POLNchr4

2097660

-
Frame-shiftENST00000354026ENST00000511885PMLchr15

74325755

+POLNchr4

2097660

-
5CDS-intronENST00000354026ENST00000515357PMLchr15

74325755

+POLNchr4

2097660

-
Frame-shiftENST00000268058ENST00000382865PMLchr15

74325755

+POLNchr4

2097660

-
Frame-shiftENST00000268058ENST00000511885PMLchr15

74325755

+POLNchr4

2097660

-
5CDS-intronENST00000268058ENST00000515357PMLchr15

74325755

+POLNchr4

2097660

-
Frame-shiftENST00000565898ENST00000382865PMLchr15

74325755

+POLNchr4

2097660

-
Frame-shiftENST00000565898ENST00000511885PMLchr15

74325755

+POLNchr4

2097660

-
5CDS-intronENST00000565898ENST00000515357PMLchr15

74325755

+POLNchr4

2097660

-
Frame-shiftENST00000569477ENST00000382865PMLchr15

74325755

+POLNchr4

2097660

-
Frame-shiftENST00000569477ENST00000511885PMLchr15

74325755

+POLNchr4

2097660

-
5CDS-intronENST00000569477ENST00000515357PMLchr15

74325755

+POLNchr4

2097660

-
Frame-shiftENST00000569965ENST00000382865PMLchr15

74325755

+POLNchr4

2097660

-
Frame-shiftENST00000569965ENST00000511885PMLchr15

74325755

+POLNchr4

2097660

-
5CDS-intronENST00000569965ENST00000515357PMLchr15

74325755

+POLNchr4

2097660

-
intron-3CDSENST00000567543ENST00000382865PMLchr15

74325755

+POLNchr4

2097660

-
intron-3CDSENST00000567543ENST00000511885PMLchr15

74325755

+POLNchr4

2097660

-
intron-intronENST00000567543ENST00000515357PMLchr15

74325755

+POLNchr4

2097660

-
Frame-shiftENST00000435786ENST00000382865PMLchr15

74325755

+POLNchr4

2097660

-
Frame-shiftENST00000435786ENST00000511885PMLchr15

74325755

+POLNchr4

2097660

-
5CDS-intronENST00000435786ENST00000515357PMLchr15

74325755

+POLNchr4

2097660

-
Frame-shiftENST00000436891ENST00000382865PMLchr15

74325755

+POLNchr4

2097660

-
Frame-shiftENST00000436891ENST00000511885PMLchr15

74325755

+POLNchr4

2097660

-
5CDS-intronENST00000436891ENST00000515357PMLchr15

74325755

+POLNchr4

2097660

-
Frame-shiftENST00000564428ENST00000382865PMLchr15

74325755

+POLNchr4

2097660

-
Frame-shiftENST00000564428ENST00000511885PMLchr15

74325755

+POLNchr4

2097660

-
5CDS-intronENST00000564428ENST00000515357PMLchr15

74325755

+POLNchr4

2097660

-
intron-3CDSENST00000359928ENST00000382865PMLchr15

74325755

+POLNchr4

2097660

-
intron-3CDSENST00000359928ENST00000511885PMLchr15

74325755

+POLNchr4

2097660

-
intron-intronENST00000359928ENST00000515357PMLchr15

74325755

+POLNchr4

2097660

-
Frame-shiftENST00000563500ENST00000382865PMLchr15

74325755

+POLNchr4

2097660

-
Frame-shiftENST00000563500ENST00000511885PMLchr15

74325755

+POLNchr4

2097660

-
5CDS-intronENST00000563500ENST00000515357PMLchr15

74325755

+POLNchr4

2097660

-
intron-3CDSENST00000569161ENST00000382865PMLchr15

74325755

+POLNchr4

2097660

-
intron-3CDSENST00000569161ENST00000511885PMLchr15

74325755

+POLNchr4

2097660

-
intron-intronENST00000569161ENST00000515357PMLchr15

74325755

+POLNchr4

2097660

-

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FusionProtFeatures for PML_POLN


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

P29590

POLN

Q7Z5Q5

DNA polymerase with very low fidelity that catalyzesconsiderable misincorporation by inserting dTTP opposite a Gtemplate, and dGTP opposite a T template (PubMed:16787914,PubMed:17118716). Is the least accurate of the DNA polymerase Afamily (i.e. POLG, POLN and POLQ) (PubMed:17118716). Can performaccurate translesion DNA synthesis (TLS) past a 5S-thymine glycol.Can perform efficient strand displacement past a nick or a gap andgives rise to an amount of product similar to that on non-damagedtemplate. Has no exonuclease activity (PubMed:16787914). Error-prone DNA polymerase that preferentially misincorporates dTregardless of template sequence (PubMed:25775266). May play a rolein TLS during interstrand cross-link (ICL) repair(PubMed:19908865). May be involved in TLS when genomic replicationis blocked by extremely large major groove DNA lesions. Mayfunction in the bypass of some DNA-protein and DNA-DNA cross-links. May have a role in cellular tolerance to DNA cross-linkingagents (PubMed:20102227). Involved in the repair of DNA cross-links and double-strand break (DSB) resistance. Participates inFANCD2-mediated repair. Forms a complex with HELQ helicase thatparticipates in homologous recombination (HR) repair and isessential for cellular protection against DNA cross-links(PubMed:19995904). {ECO:0000269|PubMed:16787914,ECO:0000269|PubMed:17118716, ECO:0000269|PubMed:19908865,ECO:0000269|PubMed:19995904, ECO:0000269|PubMed:20102227,ECO:0000269|PubMed:25775266}.

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 PML_POLN


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 PML_POLN


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
PMLGATA2, TDG, CHFR, DAXX, SMAD3, SMAD2, ZFYVE9, MAPK11, MDM2, RPL11, MYB, ANKRD2, TP53, TRIM69, TOPBP1, CCNT1, SRF, CREBBP, SUMO1, NCOR2, SIN3A, NCOR1, HDAC1, SKI, HDAC3, HDAC2, PML, RARA, RXRA, TRIM24, RB1, EIF4E, RELA, HHEX, NR4A1, STAT3, JUN, FOS, ATF2, UBE2I, BCL6, ZBTB16, SP1, ARNT, TRIM27, PLAGL1, UBE2U, NR2C1, KAT5, SATB1, TERT, NR3C1, POLR2E, PPARG, MED7, PCBD2, CHD4, SAP25, ZNF506, FOXO1, HDAC7, TOP2B, SAP130, HNRNPU, RFC4, NPM1, MRTO4, SNRNP40, RUNX1, SIAH1, SF1, SMARCA4, KLHL20, SPI1, BANP, UBE3A, TGIF1, SP100, PIAS2, SUMO2, SUMO3, AXIN1, MAGEA2, RNF4, SETDB1, PSME3, H2AFX, ATXN3, PIAS1, CSNK2A1, MAF, TERF2IP, ARIH2, USP7, CSNK2B, YAP1, CTNNB1, RANBP2, RBCK1, MAP2K4, FBXO3, CUL1, SKP1, RBX1, PIN1, UHRF1, HIPK2, TOPORS, IKBKE, ZMYM2, SLC1A2, WRN, IER3, RAD51, CHEK2, SYNE2, MAPK3, MAPK1, SIAH2, MYC, ARID3A, RUNX3, RUNX2, PKM, CSNK2A3, PLCG1, ELF4, BCL2, AURKA, SIRT1, TP63, NFATC1, FAS, MTOR, CSNK1D, EZH2, SUZ12, ECT2, MAPK7, CDK1, CDK2, CDK6, RNF111, LMNA, HDAC6, HDAC11, RNF125, KAT6A, PSMA3, CASP8AP2, ADH1B, NFKB1, PLSCR1, SH3GL1, GLIS2, JAK1, ATF7IP, ATXN1, HTT, EHMT2, ATRX, H3F3A, HIRA, ASF1A, NCOA2, EGFR, RPL5, RBL2, E2F4, TBX3, TBX2, PYCARD, SKIL, SENP1, SNX11, RFPL4B, FHL3, ACOT8, PER2, NTRK1, TCF7L2, IFI16, PARK7, DNM2, KRAS, CASC5, FIP1L1, DSN1, SQSTM1, PLOD3, HOMER3, ATP5J2, TOMM20, HMGXB4, WDR5, INTS7, TCTN3, UQCRQ, TBC1D14, COLGALT1, SFXN3, DPH7, C1QTNF6, NANP, EME1, GOLGA6A, TIMM23, MAP1LC3B, GATA1, STAT1, STAT2, NACC1, PPARGC1A, NR1I3, CDKN2A, USP11, NF1, TUBA3C, GOPC, TULP3, KLHL40, NDUFS1, TRIML2, WDR45B, NDUFA2, RNF123, PADI3, ARHGEF16, CDH19, SPTA1, TRIM25, TRIM22, CIITA, CACUL1, PCBP1, TESPOLNATR, FANCD2, POLDIP2, FANCA, FANCG, PCNA, FANCI, RAD51, HELQ, RAD18, BRCA1, BARD1, PALB2, BRCA2, BRIP1, RBBP8


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 PML_POLN


check button Drugs targeting genes involved in this fusion gene.
(DrugBank Version 5.1.0 2018-04-02)
PartnerGeneUniProtAccDrugBank IDDrug nameDrug activityDrug typeDrug status
HgenePMLP29590DB01169Arsenic trioxideProtein PMLsmall moleculeapproved|investigational

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RelatedDiseases for PML_POLN


check button Diseases associated with fusion partners.
(DisGeNet 4.0)
PartnerGeneDisease IDDisease name# pubmedsSource
HgenePMLC0023487Acute Promyelocytic Leukemia20CTD_human;ORPHANET
HgenePMLC0017636Glioblastoma1CTD_human
HgenePMLC0023904Liver Neoplasms, Experimental1CTD_human
HgenePMLC0029401Osteitis Deformans1CTD_human
HgenePMLC0036341Schizophrenia1CTD_human
HgenePMLC0038325Stevens-Johnson Syndrome1CTD_human
HgenePMLC0085183Neoplasms, Second Primary1CTD_human