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	Fusion Gene Summary
	Fusion Gene Sample Information
	Fusion ORF Analysis
	Fusion Amino Acid Sequences
	Fusion Protein Functional Features
	Fusion Protein-Protein Interaction
	Related drugs with this fusion protein
	Related disease with this fusion protein

Fusion Protein:GPI-POLG

Fusion Protein Summary

Fusion gene summary

Fusion partner gene information	Fusion gene name: GPI-POLG
	FusionPDB ID: 34298
	FusionGDB2.0 ID: 34298
		Hgene	Tgene
	Gene symbol	GPI	POLG
	Gene ID	10007	5428
	Gene name	glucosamine-6-phosphate deaminase 1	DNA polymerase gamma, catalytic subunit
	Synonyms	GNP1\|GNPDA\|GNPI\|GPI\|HLN	MDP1\|MIRAS\|MTDPS4A\|MTDPS4B\|PEO\|POLG1\|POLGA\|SANDO\|SCAE
	Cytomap	5q31.3	15q26.1
	Type of gene	protein-coding	protein-coding
	Description	glucosamine-6-phosphate isomerase 1GNPDA 1glcN6P deaminase 1oscillin	DNA polymerase subunit gamma-1PolG-alphamitochondrial DNA polymerase catalytic subunitmitochondrial polymerase gamma catalytic subunitpolymerase (DNA directed), gammapolymerase (DNA) gamma, catalytic subunittruncated mitochondrial DNA polymerase gam
	Modification date	20200313	20200325
	UniProtAcc	Q8IV16	.
Ensembl transtripts involved in fusion gene	ENST ids	ENST00000356487, ENST00000415930, ENST00000586425,	ENST00000525806, ENST00000268124, ENST00000442287,
Fusion gene scores for assessment (based on all fusion genes of FusionGDB 2.0)	* DoF score	27 X 23 X 11=6831	2 X 3 X 2=12
	# samples	28	3
	** MAII score	log2(28/6831*10)=-4.60859805991281 possibly effective Gene in Pan-Cancer Fusion Genes (peGinPCFGs). DoF>8 and MAII<0	log2(3/12*10)=1.32192809488736 effective Gene in Pan-Cancer Fusion Genes (eGinPCFGs). DoF>8 and MAII>0
Context (manual curation of fusion genes in FusionPDB)	PubMed: GPI [Title/Abstract] AND POLG [Title/Abstract] AND fusion [Title/Abstract]
Most frequent breakpoint (based on all fusion genes of FusionGDB 2.0)	GPI(34884673)-POLG(89876583), # samples:1
Anticipated loss of major functional domain due to fusion event.	GPI-POLG seems lost the major protein functional domain in Hgene partner, which is a CGC by not retaining the major functional domain in the partially deleted in-frame ORF. GPI-POLG seems lost the major protein functional domain in Hgene partner, which is a essential gene by not retaining the major functional domain in the partially deleted in-frame ORF.

* 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
Tgene	POLG	GO:0006261	DNA-dependent DNA replication	10608893\|15167897\|19837034\|19858216\|26123486\|26446790\|28430993
Tgene	POLG	GO:0006287	base-excision repair, gap-filling	15177179

Fusion gene breakpoints across GPI (5'-gene)
* Click on the image to open the UCSC genome browser with custom track showing this image in a new window.

Fusion gene breakpoints across POLG (3'-gene)
* Click on the image to open the UCSC genome browser with custom track showing this image in a new window.

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Fusion Gene Sample Information

Fusion gene information from FusionGDB2.0.

Fusion gene information from two resources (ChiTars 5.0 and ChimerDB 4.0)
* 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.

Source	Disease	Sample	Hgene	Hchr	Hbp	Hstrand	Tgene	Tchr	Tbp	Tstrand
ChimerDB4	KIRP	TCGA-B9-4115	GPI	chr19	34884673	+	POLG	chr15	89876583	-

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Fusion ORF Analysis

Fusion information from ORFfinder translation from full-length transcript sequence from FusionPDB.

Henst	Tenst	Hgene	Hchr	Hbp	Hstrand	Tgene	Tchr	Tbp	Tstrand	Seq length (transcript)	BP loci (transcript)	Predicted start (transcript)	Predicted stop (transcript)	Seq length (amino acids)
ENST00000415930	GPI	chr19	34884673	+	ENST00000268124	POLG	chr15	89876583	-	4878	1112	170	1138	322
ENST00000415930	GPI	chr19	34884673	+	ENST00000442287	POLG	chr15	89876583	-	4861	1112	170	1138	322
ENST00000356487	GPI	chr19	34884673	+	ENST00000268124	POLG	chr15	89876583	-	4916	1150	172	1176	334
ENST00000356487	GPI	chr19	34884673	+	ENST00000442287	POLG	chr15	89876583	-	4899	1150	172	1176	334
ENST00000586425	GPI	chr19	34884673	+	ENST00000268124	POLG	chr15	89876583	-	4700	934	25	960	311
ENST00000586425	GPI	chr19	34884673	+	ENST00000442287	POLG	chr15	89876583	-	4683	934	25	960	311

DeepORF prediction of the coding potential based on the fusion transcript sequence of in-frame fusion genes. DeepORF is a coding potential classifier based on convolutional neural network by comparing the real Ribo-seq data. If the no-coding score < 0.5 and coding score > 0.5, then the in-frame fusion transcript is predicted as being likely translated.

Henst	Tenst	Hgene	Hchr	Hbp	Hstrand	Tgene	Tchr	Tbp	Tstrand	No-coding score	Coding score
ENST00000415930	ENST00000268124	GPI	chr19	34884673	+	POLG	chr15	89876583	-	0.010539018	0.989461
ENST00000415930	ENST00000442287	GPI	chr19	34884673	+	POLG	chr15	89876583	-	0.010538489	0.9894615
ENST00000356487	ENST00000268124	GPI	chr19	34884673	+	POLG	chr15	89876583	-	0.005679594	0.9943204
ENST00000356487	ENST00000442287	GPI	chr19	34884673	+	POLG	chr15	89876583	-	0.005705688	0.99429435
ENST00000586425	ENST00000268124	GPI	chr19	34884673	+	POLG	chr15	89876583	-	0.005897956	0.99410206
ENST00000586425	ENST00000442287	GPI	chr19	34884673	+	POLG	chr15	89876583	-	0.005911797	0.9940882

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Fusion Amino Acid Sequences

For individual full-length fusion transcript sequence from FusionPDB, we ran ORFfinder and chose the longest ORF among the all predicted ones.

>FusionGDB ID_FusionGDB isoform ID_FGname_Hgene_Hchr_Hbp_Henst_Tgene_Tchr_Tbp_Tenst_length(fusion AA) seq_BP

>34298_34298_1_GPI-POLG_GPI_chr19_34884673_ENST00000356487_POLG_chr15_89876583_ENST00000268124_length(amino acids)=334AA_BP=
MLRAAGAPSSSARVSLSVPSSPAMAALTRDPQFQKLQQWYREHRSELNLRRLFDANKDRFNHFSLTLNTNHGHILVDYSKNLVTEDVMRM
LVDLAKSRGVEAARERMFNGEKINYTEGRAVLHVALRNRSNTPILVDGKDVMPEVNKVLDKMKSFCQRVRSGDWKGYTGKTITDVINIGI
GGSDLGPLMVTEALKPYSSGGPRVWYVSNIDGTHIAKTLAQLNPESSLFIIASKTFTTQETITNAETAKEWFLQAAKDPSAVAKHFVALS

--------------------------------------------------------------

>34298_34298_2_GPI-POLG_GPI_chr19_34884673_ENST00000356487_POLG_chr15_89876583_ENST00000442287_length(amino acids)=334AA_BP=
MLRAAGAPSSSARVSLSVPSSPAMAALTRDPQFQKLQQWYREHRSELNLRRLFDANKDRFNHFSLTLNTNHGHILVDYSKNLVTEDVMRM
LVDLAKSRGVEAARERMFNGEKINYTEGRAVLHVALRNRSNTPILVDGKDVMPEVNKVLDKMKSFCQRVRSGDWKGYTGKTITDVINIGI
GGSDLGPLMVTEALKPYSSGGPRVWYVSNIDGTHIAKTLAQLNPESSLFIIASKTFTTQETITNAETAKEWFLQAAKDPSAVAKHFVALS

--------------------------------------------------------------

>34298_34298_3_GPI-POLG_GPI_chr19_34884673_ENST00000415930_POLG_chr15_89876583_ENST00000268124_length(amino acids)=322AA_BP=
MVALCSLQHLGSSDPRALPTLPTATSGQRPAKRRRKSPAMAALTRDPQFQKLQQWYREHRSELNLRRLFDANKDRFNHFSLTLNTNHGHI
LVDYSKNLVTEDVMRMLVDLAKSRGVEAARERMFNGEKINYTEGRAVLHVALRNRSNTPILVDGKDVMPEVNKVLDKMKSFCQGPLMVTE
ALKPYSSGGPRVWYVSNIDGTHIAKTLAQLNPESSLFIIASKTFTTQETITNAETAKEWFLQAAKDPSAVAKHFVALSTNTTKVKEFGID

--------------------------------------------------------------

>34298_34298_4_GPI-POLG_GPI_chr19_34884673_ENST00000415930_POLG_chr15_89876583_ENST00000442287_length(amino acids)=322AA_BP=
MVALCSLQHLGSSDPRALPTLPTATSGQRPAKRRRKSPAMAALTRDPQFQKLQQWYREHRSELNLRRLFDANKDRFNHFSLTLNTNHGHI
LVDYSKNLVTEDVMRMLVDLAKSRGVEAARERMFNGEKINYTEGRAVLHVALRNRSNTPILVDGKDVMPEVNKVLDKMKSFCQGPLMVTE
ALKPYSSGGPRVWYVSNIDGTHIAKTLAQLNPESSLFIIASKTFTTQETITNAETAKEWFLQAAKDPSAVAKHFVALSTNTTKVKEFGID

--------------------------------------------------------------

>34298_34298_5_GPI-POLG_GPI_chr19_34884673_ENST00000586425_POLG_chr15_89876583_ENST00000268124_length(amino acids)=311AA_BP=
MAALTRDPQFQKLQQWYREHRSELNLRRLFDANKDRFNHFSLTLNTNHGHILVDYSKNLVTEDVMRMLVDLAKSRGVEAARERMFNGEKI
NYTEGRAVLHVALRNRSNTPILVDGKDVMPEVNKVLDKMKSFCQRVRSGDWKGYTGKTITDVINIGIGGSDLGPLMVTEALKPYSSGGPR
VWYVSNIDGTHIAKTLAQLNPESSLFIIASKTFTTQETITNAETAKEWFLQAAKDPSAVAKHFVALSTNTTKVKEFGIDPQNMFEFWDWV

--------------------------------------------------------------

>34298_34298_6_GPI-POLG_GPI_chr19_34884673_ENST00000586425_POLG_chr15_89876583_ENST00000442287_length(amino acids)=311AA_BP=
MAALTRDPQFQKLQQWYREHRSELNLRRLFDANKDRFNHFSLTLNTNHGHILVDYSKNLVTEDVMRMLVDLAKSRGVEAARERMFNGEKI
NYTEGRAVLHVALRNRSNTPILVDGKDVMPEVNKVLDKMKSFCQRVRSGDWKGYTGKTITDVINIGIGGSDLGPLMVTEALKPYSSGGPR
VWYVSNIDGTHIAKTLAQLNPESSLFIIASKTFTTQETITNAETAKEWFLQAAKDPSAVAKHFVALSTNTTKVKEFGIDPQNMFEFWDWV

--------------------------------------------------------------

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Fusion Protein Functional Features

Four levels of functional features of fusion genes
Go to FGviewer search page for the most frequent breakpoint (https://ccsmweb.uth.edu/FGviewer/chr19:34884673/chr15:89876583)
- FGviewer provides the online visualization of the retention search of the protein functional features across DNA, RNA, protein, and pathological levels.
- How to search
1. Put your fusion gene symbol.
2. Press the tab key until there will be shown the breakpoint information filled.
4. Go down and press 'Search' tab twice.
4. Go down to have the hyperlink of the search result.
5. Click the hyperlink.
6. See the FGviewer result for your fusion gene.

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

Hgene	Tgene
GPI Q8IV16	.
FUNCTION: Mediates the transport of lipoprotein lipase LPL from the basolateral to the apical surface of endothelial cells in capillaries (By similarity). Anchors LPL on the surface of endothelial cells in the lumen of blood capillaries (By similarity). Protects LPL against loss of activity, and against ANGPTL4-mediated unfolding (PubMed:27929370, PubMed:29899144). Thereby, plays an important role in lipolytic processing of chylomicrons by LPL, triglyceride metabolism and lipid homeostasis (PubMed:19304573, PubMed:21314738). Binds chylomicrons and phospholipid particles that contain APOA5 (PubMed:17997385, PubMed:19304573). Binds high-density lipoprotein (HDL) and plays a role in the uptake of lipids from HDL (By similarity). {ECO:0000250\|UniProtKB:Q9D1N2, ECO:0000269\|PubMed:17997385, ECO:0000269\|PubMed:19304573, ECO:0000269\|PubMed:21314738, ECO:0000269\|PubMed:27929370, ECO:0000269\|PubMed:29899144}.	FUNCTION: Might normally function as a transcriptional repressor. EWS-fusion-proteins (EFPS) may play a role in the tumorigenic process. They may disturb gene expression by mimicking, or interfering with the normal function of CTD-POLII within the transcription initiation complex. They may also contribute to an aberrant activation of the fusion protein target genes.

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.

- 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

Hgene

GPI

chr19:34884673

chr15:89876583

ENST00000356487

159_160

303.0

559.0

Region

Glucose-6-phosphate binding

Hgene

GPI

chr19:34884673

chr15:89876583

ENST00000356487

210_215

303.0

559.0

Region

Glucose-6-phosphate binding

Hgene

GPI

chr19:34884673

chr15:89876583

ENST00000415930

159_160

314.0

570.0

Region

Glucose-6-phosphate binding

Hgene

GPI

chr19:34884673

chr15:89876583

ENST00000415930

210_215

314.0

570.0

Region

Glucose-6-phosphate binding

Tgene

POLG

chr19:34884673

chr15:89876583

ENST00000268124

43_60

1240.0

Compositional bias

Note=Poly-Gln

Tgene

POLG

chr19:34884673

chr15:89876583

ENST00000268124

535_538

1240.0

Compositional bias

Note=Poly-Glu

Tgene

POLG

chr19:34884673

chr15:89876583

ENST00000442287

43_60

1240.0

Compositional bias

Note=Poly-Gln

Tgene

POLG

chr19:34884673

chr15:89876583

ENST00000442287

535_538

1240.0

Compositional bias

Note=Poly-Glu

- 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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Fusion Protein-Protein Interaction

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 from validated records (BIOGRID-3.4.160)

Gene

PPI interactors

Protein-protein interactors based on sequence similarity (STRING)

Gene	STRING network
GPI
POLG

- Retained interactions in fusion protein (protein functional feature from UniProt).

Partner

Gene

Hbp

Tbp

ENST

Strand

BPexon

TotalExon

Protein feature loci

*BPloci

TotalLen

Still interaction with

- Lost interactions due to fusion (protein functional feature from UniProt).

Partner

Gene

Hbp

Tbp

ENST

Strand

BPexon

TotalExon

Protein feature loci

*BPloci

TotalLen

Interaction lost with

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Related Drugs to GPI-POLG

Drugs used for this fusion-positive patient.
(Manual curation of PubMed, 04-30-2022 + MyCancerGenome)

Hgene

Tgene

Drug

Source

PMID

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Related Diseases to GPI-POLG

Diseases that have this fusion gene.
(Manual curation of PubMed, 04-30-2022 + MyCancerGenome)

Hgene

Tgene

Disease

Source

PMID

Diseases associated with fusion partners.
(DisGeNet 4.0)

Partner

Gene

Disease ID

Disease name

# pubmeds

Source