	FusionGeneSummary
	FusionProtFeature
	FusionGeneSequence
	FusionGenePPI
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Fusion gene ID: 27941

FusionGeneSummary for POLK_HSD17B4

Fusion gene summary

Fusion gene information	Fusion gene name: POLK_HSD17B4
	Fusion gene ID: 27941
		Hgene	Tgene
	Gene symbol	POLK	HSD17B4
	Gene ID	51426	3295
	Gene name	DNA polymerase kappa	hydroxysteroid 17-beta dehydrogenase 4
	Synonyms	DINB1\|DINP\|POLQ	DBP\|MFE-2\|MPF-2\|PRLTS1\|SDR8C1
	Cytomap	5q13.3	5q23.1
	Type of gene	protein-coding	protein-coding
	Description	DNA polymerase kappapolymerase (DNA directed) kappa	peroxisomal multifunctional enzyme type 217-beta-HSD 417-beta-HSD IV17-beta-hydroxysteroid dehydrogenase 417beta-estradiol dehydrogenase type IV3-alpha,7-alpha,12-alpha-trihydroxy-5-beta-cholest-24-enoyl-CoA hydrataseD-3-hydroxyacyl-CoA dehydratase
	Modification date	20180523	20180522
	UniProtAcc	Q9UBT6	P51659
	Ensembl transtripts involved in fusion gene	ENST00000241436, ENST00000352007, ENST00000506928, ENST00000515295, ENST00000508526, ENST00000504026, ENST00000380481,	ENST00000256216, ENST00000515320, ENST00000510025, ENST00000504811, ENST00000414835, ENST00000513628, ENST00000509514, ENST00000522415,
Fusion gene scores	* DoF score	3 X 3 X 3=27	4 X 2 X 3=24
	# samples	3	4
	** MAII score	log2(3/27*10)=0.15200309344505 effective Gene in Pan-Cancer Fusion Genes (eGinPCFGs). DoF>8 and MAII>0	log2(4/24*10)=0.736965594166206 effective Gene in Pan-Cancer Fusion Genes (eGinPCFGs). DoF>8 and MAII>0
Context	PubMed: POLK [Title/Abstract] AND HSD17B4 [Title/Abstract] AND fusion [Title/Abstract]
Functional or gene categories assigned by FusionGDB annotation	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)

Gene ontology of each fusion partner gene with evidence of Inferred from Direct Assay (IDA) from Entrez

Partner	Gene	GO ID	GO term	PubMed ID
Hgene	POLK	GO:0006281	DNA repair	28297716
Hgene	POLK	GO:0006974	cellular response to DNA damage stimulus	28297716
Hgene	POLK	GO:0034644	cellular response to UV	28297716
Hgene	POLK	GO:0042276	error-prone translesion synthesis	28297716
Tgene	HSD17B4	GO:0006635	fatty acid beta-oxidation	10400999
Tgene	HSD17B4	GO:0008209	androgen metabolic process	7487879
Tgene	HSD17B4	GO:0008210	estrogen metabolic process	7487879
Tgene	HSD17B4	GO:0036111	very long-chain fatty-acyl-CoA metabolic process	9482850
Tgene	HSD17B4	GO:0036112	medium-chain fatty-acyl-CoA metabolic process	9089413

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 type	Source	Cancer type	Sample	Hgene	Hchr	Hbp	Hstrand	Tgene	Tchr	Tbp	Tstrand
TCGA	RV	SKCM	TCGA-D3-A51N-06A	POLK	chr5	74848416	+	HSD17B4	chr5	118792010	+

* LD: Li Ding group's fusion gene list
RV: Roel Verhaak group's fusion gene list
ChiTaRs fusion database

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.

ORF	Henst	Tenst	Hgene	Hchr	Hbp	Hstrand	Tgene	Tchr	Tbp	Tstrand
Frame-shift	ENST00000241436	ENST00000256216	POLK	chr5	74848416	+	HSD17B4	chr5	118792010	+
5CDS-intron	ENST00000241436	ENST00000515320	POLK	chr5	74848416	+	HSD17B4	chr5	118792010	+
5CDS-5UTR	ENST00000241436	ENST00000510025	POLK	chr5	74848416	+	HSD17B4	chr5	118792010	+
5CDS-5UTR	ENST00000241436	ENST00000504811	POLK	chr5	74848416	+	HSD17B4	chr5	118792010	+
5CDS-5UTR	ENST00000241436	ENST00000414835	POLK	chr5	74848416	+	HSD17B4	chr5	118792010	+
5CDS-intron	ENST00000241436	ENST00000513628	POLK	chr5	74848416	+	HSD17B4	chr5	118792010	+
5CDS-intron	ENST00000241436	ENST00000509514	POLK	chr5	74848416	+	HSD17B4	chr5	118792010	+
5CDS-intron	ENST00000241436	ENST00000522415	POLK	chr5	74848416	+	HSD17B4	chr5	118792010	+
Frame-shift	ENST00000352007	ENST00000256216	POLK	chr5	74848416	+	HSD17B4	chr5	118792010	+
5CDS-intron	ENST00000352007	ENST00000515320	POLK	chr5	74848416	+	HSD17B4	chr5	118792010	+
5CDS-5UTR	ENST00000352007	ENST00000510025	POLK	chr5	74848416	+	HSD17B4	chr5	118792010	+
5CDS-5UTR	ENST00000352007	ENST00000504811	POLK	chr5	74848416	+	HSD17B4	chr5	118792010	+
5CDS-5UTR	ENST00000352007	ENST00000414835	POLK	chr5	74848416	+	HSD17B4	chr5	118792010	+
5CDS-intron	ENST00000352007	ENST00000513628	POLK	chr5	74848416	+	HSD17B4	chr5	118792010	+
5CDS-intron	ENST00000352007	ENST00000509514	POLK	chr5	74848416	+	HSD17B4	chr5	118792010	+
5CDS-intron	ENST00000352007	ENST00000522415	POLK	chr5	74848416	+	HSD17B4	chr5	118792010	+
3UTR-3CDS	ENST00000506928	ENST00000256216	POLK	chr5	74848416	+	HSD17B4	chr5	118792010	+
3UTR-intron	ENST00000506928	ENST00000515320	POLK	chr5	74848416	+	HSD17B4	chr5	118792010	+
3UTR-5UTR	ENST00000506928	ENST00000510025	POLK	chr5	74848416	+	HSD17B4	chr5	118792010	+
3UTR-5UTR	ENST00000506928	ENST00000504811	POLK	chr5	74848416	+	HSD17B4	chr5	118792010	+
3UTR-5UTR	ENST00000506928	ENST00000414835	POLK	chr5	74848416	+	HSD17B4	chr5	118792010	+
3UTR-intron	ENST00000506928	ENST00000513628	POLK	chr5	74848416	+	HSD17B4	chr5	118792010	+
3UTR-intron	ENST00000506928	ENST00000509514	POLK	chr5	74848416	+	HSD17B4	chr5	118792010	+
3UTR-intron	ENST00000506928	ENST00000522415	POLK	chr5	74848416	+	HSD17B4	chr5	118792010	+
Frame-shift	ENST00000515295	ENST00000256216	POLK	chr5	74848416	+	HSD17B4	chr5	118792010	+
5CDS-intron	ENST00000515295	ENST00000515320	POLK	chr5	74848416	+	HSD17B4	chr5	118792010	+
5CDS-5UTR	ENST00000515295	ENST00000510025	POLK	chr5	74848416	+	HSD17B4	chr5	118792010	+
5CDS-5UTR	ENST00000515295	ENST00000504811	POLK	chr5	74848416	+	HSD17B4	chr5	118792010	+
5CDS-5UTR	ENST00000515295	ENST00000414835	POLK	chr5	74848416	+	HSD17B4	chr5	118792010	+
5CDS-intron	ENST00000515295	ENST00000513628	POLK	chr5	74848416	+	HSD17B4	chr5	118792010	+
5CDS-intron	ENST00000515295	ENST00000509514	POLK	chr5	74848416	+	HSD17B4	chr5	118792010	+
5CDS-intron	ENST00000515295	ENST00000522415	POLK	chr5	74848416	+	HSD17B4	chr5	118792010	+
Frame-shift	ENST00000508526	ENST00000256216	POLK	chr5	74848416	+	HSD17B4	chr5	118792010	+
5CDS-intron	ENST00000508526	ENST00000515320	POLK	chr5	74848416	+	HSD17B4	chr5	118792010	+
5CDS-5UTR	ENST00000508526	ENST00000510025	POLK	chr5	74848416	+	HSD17B4	chr5	118792010	+
5CDS-5UTR	ENST00000508526	ENST00000504811	POLK	chr5	74848416	+	HSD17B4	chr5	118792010	+
5CDS-5UTR	ENST00000508526	ENST00000414835	POLK	chr5	74848416	+	HSD17B4	chr5	118792010	+
5CDS-intron	ENST00000508526	ENST00000513628	POLK	chr5	74848416	+	HSD17B4	chr5	118792010	+
5CDS-intron	ENST00000508526	ENST00000509514	POLK	chr5	74848416	+	HSD17B4	chr5	118792010	+
5CDS-intron	ENST00000508526	ENST00000522415	POLK	chr5	74848416	+	HSD17B4	chr5	118792010	+
Frame-shift	ENST00000504026	ENST00000256216	POLK	chr5	74848416	+	HSD17B4	chr5	118792010	+
5CDS-intron	ENST00000504026	ENST00000515320	POLK	chr5	74848416	+	HSD17B4	chr5	118792010	+
5CDS-5UTR	ENST00000504026	ENST00000510025	POLK	chr5	74848416	+	HSD17B4	chr5	118792010	+
5CDS-5UTR	ENST00000504026	ENST00000504811	POLK	chr5	74848416	+	HSD17B4	chr5	118792010	+
5CDS-5UTR	ENST00000504026	ENST00000414835	POLK	chr5	74848416	+	HSD17B4	chr5	118792010	+
5CDS-intron	ENST00000504026	ENST00000513628	POLK	chr5	74848416	+	HSD17B4	chr5	118792010	+
5CDS-intron	ENST00000504026	ENST00000509514	POLK	chr5	74848416	+	HSD17B4	chr5	118792010	+
5CDS-intron	ENST00000504026	ENST00000522415	POLK	chr5	74848416	+	HSD17B4	chr5	118792010	+
5UTR-3CDS	ENST00000380481	ENST00000256216	POLK	chr5	74848416	+	HSD17B4	chr5	118792010	+
5UTR-intron	ENST00000380481	ENST00000515320	POLK	chr5	74848416	+	HSD17B4	chr5	118792010	+
5UTR-5UTR	ENST00000380481	ENST00000510025	POLK	chr5	74848416	+	HSD17B4	chr5	118792010	+
5UTR-5UTR	ENST00000380481	ENST00000504811	POLK	chr5	74848416	+	HSD17B4	chr5	118792010	+
5UTR-5UTR	ENST00000380481	ENST00000414835	POLK	chr5	74848416	+	HSD17B4	chr5	118792010	+
5UTR-intron	ENST00000380481	ENST00000513628	POLK	chr5	74848416	+	HSD17B4	chr5	118792010	+
5UTR-intron	ENST00000380481	ENST00000509514	POLK	chr5	74848416	+	HSD17B4	chr5	118792010	+
5UTR-intron	ENST00000380481	ENST00000522415	POLK	chr5	74848416	+	HSD17B4	chr5	118792010	+

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FusionProtFeatures for POLK_HSD17B4

Main function of each fusion partner protein. (from UniProt)

Hgene	Tgene
POLK Q9UBT6	HSD17B4 P51659
	Bifunctional enzyme acting on the peroxisomal beta-oxidation pathway for fatty acids. Catalyzes the formation of 3-ketoacyl-CoA intermediates from both straight-chain and 2-methyl-branched-chain fatty acids. {ECO:0000269\|PubMed:8902629,ECO:0000269\|PubMed:9089413}.

Retention 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.

Partner

Gene

Hbp

Tbp

ENST

Strand

BPexon

TotalExon

Protein feature loci

*BPloci

TotalLen

Protein feature

Protein feature note

- In-frame and not-retained protein feature among the 13 regional features.

Partner

Gene

Hbp

Tbp

ENST

Strand

BPexon

TotalExon

Protein feature loci

*BPloci

TotalLen

Protein feature

Protein feature note

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FusionGeneSequence for POLK_HSD17B4

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 POLK_HSD17B4

Go to ChiPPI (Chimeric Protein-Protein interactions) to see the chimeric PPI interaction in
ChiPPI page
.

Protein-protein interactors with each fusion partner protein in wild-type (BIOGRID-3.4.160)

Hgene	Hgene's interactors	Tgene	Tgene's interactors
POLK	PCNA, RAD18, XRCC1, POLD1, RPA1, REV1, TRAIP, MSH2, MCM4, XPO7, MCM6, MSH6, KCTD17, PARVG, H3F3A, RAD51, RBM4, STAT6, TIA1, UBE2V2, PIAS1, NOLC1, SRA1, CD2BP2, APOL2, RPAP1, KCTD5, PLXNA3, BHLHE41, ZCCHC6, FIP1L1, CD99L2, KLF16, PCGF5, MAK16, SYNPO2, SBSN, WRN, SPG20, DTD1	HSD17B4	UBA5, UBC, NDRG1, MYC, GRB2, SNCA, ACAA1, SCP2, CAT, GRHPR, SSBP1, FIS1, GNB2L1, VAMP2, PEX5, PEX14, ADRB2, CASP9, BAK1, CDK7, MAPK8, HECW2, STAU1, CUL7, CCDC8, DECR1, EEF2, IDH1, NTRK1, SCARNA22, RPGRIP1, FOS, HNRNPD, HNRNPU, SORT1, RACGAP1, NF2, CDC73, PPM1A, DUSP22, DUSP4, IKZF1, DLD, DLST, PDHA1, SDHA

- Retained PPIs in in-frame fusion.

Partner

Gene

Hbp

Tbp

ENST

Strand

BPexon

TotalExon

Protein feature loci

*BPloci

TotalLen

Still interaction with

- Lost PPIs in in-frame fusion.

Partner

Gene

Hbp

Tbp

ENST

Strand

BPexon

TotalExon

Protein feature loci

*BPloci

TotalLen

Interaction lost with

- Retained PPIs, but lost function due to frame-shift fusion.

Partner

Gene

Hbp

Tbp

ENST

Strand

BPexon

TotalExon

Protein feature loci

*BPloci

TotalLen

Interaction lost with

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RelatedDrugs for POLK_HSD17B4

Drugs targeting genes involved in this fusion gene.
(DrugBank Version 5.1.0 2018-04-02)

Partner

Gene

UniProtAcc

DrugBank ID

Drug name

Drug activity

Drug type

Drug status

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RelatedDiseases for POLK_HSD17B4

Diseases associated with fusion partners.
(DisGeNet 4.0)

Partner	Gene	Disease ID	Disease name	# pubmeds	Source
Hgene	POLK	C0017636	Glioblastoma	1	CTD_human
Hgene	POLK	C1449861	Micronuclei, Chromosome-Defective	1	CTD_human
Tgene	HSD17B4	C0342870	Bifunctional peroxisomal enzyme deficiency	4	CTD_human;ORPHANET;UNIPROT
Tgene	HSD17B4	C0282528	Peroxisomal Disorders	2	CTD_human
Tgene	HSD17B4	C0685838	Gonadal dysgenesis XX type deafness	2	CTD_human;ORPHANET;UNIPROT
Tgene	HSD17B4	C0037769	West Syndrome	1	CTD_human
Tgene	HSD17B4	C0043459	Zellweger Syndrome	1	CTD_human

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Fusion gene ID: 27941

FusionGeneSummary for POLK_HSD17B4

FusionProtFeatures for POLK_HSD17B4

FusionGeneSequence for POLK_HSD17B4

FusionGenePPI for POLK_HSD17B4

RelatedDrugs for POLK_HSD17B4

RelatedDiseases for POLK_HSD17B4