UTHEALTH HOME ABOUT SBMI A-Z WEBMAIL INSIDE THE UNIVERSITY

Home

Download

Statistics

Examples

Help

Contact

level1

	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:PMVK-FNBP1

Fusion Protein Summary

Fusion gene summary

Fusion partner gene information	Fusion gene name: PMVK-FNBP1
	FusionPDB ID: 66696
	FusionGDB2.0 ID: 66696
		Hgene	Tgene
	Gene symbol	PMVK	FNBP1
	Gene ID	10654	23048
	Gene name	phosphomevalonate kinase	formin binding protein 1
	Synonyms	HUMPMKI\|PMK\|PMKA\|PMKASE\|POROK1	FBP17
	Cytomap	1q21.3	9q34.11
	Type of gene	protein-coding	protein-coding
	Description	phosphomevalonate kinasetestis tissue sperm-binding protein Li 95mP	formin-binding protein 1formin-binding protein 17
	Modification date	20200313	20200313
	UniProtAcc	.	Q5T0N5
Ensembl transtripts involved in fusion gene	ENST ids	ENST00000368467,	ENST00000443566, ENST00000478129, ENST00000355681, ENST00000420781, ENST00000446176,
Fusion gene scores for assessment (based on all fusion genes of FusionGDB 2.0)	* DoF score	6 X 4 X 5=120	24 X 24 X 8=4608
	# samples	6	26
	** MAII score	log2(6/120*10)=-1 possibly effective Gene in Pan-Cancer Fusion Genes (peGinPCFGs). DoF>8 and MAII<0	log2(26/4608*10)=-4.14755718841386 possibly effective Gene in Pan-Cancer Fusion Genes (peGinPCFGs). DoF>8 and MAII<0
Context (manual curation of fusion genes in FusionPDB)	PubMed: PMVK [Title/Abstract] AND FNBP1 [Title/Abstract] AND fusion [Title/Abstract]
Most frequent breakpoint (based on all fusion genes of FusionGDB 2.0)	PMVK(154909067)-FNBP1(132691974), # samples:1
Anticipated loss of major functional domain due to fusion event.	PMVK-FNBP1 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. PMVK-FNBP1 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. PMVK-FNBP1 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. PMVK-FNBP1 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
Hgene	PMVK	GO:0006695	cholesterol biosynthetic process	8663599
Hgene	PMVK	GO:0016126	sterol biosynthetic process	16519518

Fusion gene breakpoints across PMVK (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 FNBP1 (3'-gene)
* Click on the image to open the UCSC genome browser with custom track showing this image in a new window.

Top

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	LIHC	TCGA-CC-5263-01A	PMVK	chr1	154909067	-	FNBP1	chr9	132691974	-

Top

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)
ENST00000368467	PMVK	chr1	154909067	-	ENST00000446176	FNBP1	chr9	132691974	-	5094	401	65	1741	558
ENST00000368467	PMVK	chr1	154909067	-	ENST00000420781	FNBP1	chr9	132691974	-	5067	401	65	1714	549
ENST00000368467	PMVK	chr1	154909067	-	ENST00000355681	FNBP1	chr9	132691974	-	1673	401	65	1666	533

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
ENST00000368467	ENST00000446176	PMVK	chr1	154909067	-	FNBP1	chr9	132691974	-	0.000343267	0.9996567
ENST00000368467	ENST00000420781	PMVK	chr1	154909067	-	FNBP1	chr9	132691974	-	0.000434832	0.9995652
ENST00000368467	ENST00000355681	PMVK	chr1	154909067	-	FNBP1	chr9	132691974	-	0.001111423	0.99888855

Top

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

>66696_66696_1_PMVK-FNBP1_PMVK_chr1_154909067_ENST00000368467_FNBP1_chr9_132691974_ENST00000355681_length(amino acids)=533AA_BP=112
MLCEGTAFLSACLTLFSPYLFGHELRARSRAVSPVRSYGEEGRDCSLLPLRLVAASIPRGVPILGVGRSVSFRHREAWRPHGPAGRRPAA
GTAVQRQEEIREGLRDRGAAEQARQQAQIRHQMAEDSKADYSSILQKFNHEQHEYYHTHIPNIFQKIQEMEERRIVRMGESMKTYAEVDR
QVIPIIGKCLDGIVKAAESIDQKNDSQLVIEAYKSGFEPPGDIEFEDYTQPMKRTVSDNSLSNSRGEGKPDLKFGGKSKGKLWPFIKKNK
SPKQQKEPLSHRFNEFMTSKPKIHCFRSLKRGLSLKLGATPEDFSNLPPEQRRKKLQQKVDELNKEIQKEMDQRDAITKMKDVYLKNPQM
GDPASLDHKLAEVSQNIEKLRVETQKFEAWLAEVEGRLPARSEQARRQSGLYDSQNPPTVNNCAQDRESPDGSYTEEQSQESEMKVLATD

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

>66696_66696_2_PMVK-FNBP1_PMVK_chr1_154909067_ENST00000368467_FNBP1_chr9_132691974_ENST00000420781_length(amino acids)=549AA_BP=112
MLCEGTAFLSACLTLFSPYLFGHELRARSRAVSPVRSYGEEGRDCSLLPLRLVAASIPRGVPILGVGRSVSFRHREAWRPHGPAGRRPAA
GTAVQRQEEIREGLRDRGAAEQARQQAQIRHQMAEDSKADYSSILQKFNHEQHEYYHTHIPNIFQKIQEMEERRIVRMGESMKTYAEVDR
QVIPIIGKCLDGIVKAAESIDQKNDSQLVIEAYKSGFEPPGDIEFEDYTQPMKRTVSDNSLSNSRGEGKPDLKFGGKSKGKLWPFIKKNK
PPPPPPASASPSAVPNGPQSPKQQKEPLSHRFNEFMTSKPKIHCFRSLKRGHSLTLQGATPEDFSNLPPEQRRKKLQQKVDELNKEIQKE
MDQRDAITKMKDVYLKNPQMGDPASLDHKLAEVSQNIEKLRVETQKFEAWLAEVEGRLPARSEQARRQSGLYDSQNPPTVNNCAQDRESP
DGSYTEEQSQESEMKVLATDFDDEFDDEEPLPAIGTCKALYTFEGQNEGTISVVEGETLYVIEEDKGDGWTRIRRNEDEEGYVPTSYVEV

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

>66696_66696_3_PMVK-FNBP1_PMVK_chr1_154909067_ENST00000368467_FNBP1_chr9_132691974_ENST00000446176_length(amino acids)=558AA_BP=112
MLCEGTAFLSACLTLFSPYLFGHELRARSRAVSPVRSYGEEGRDCSLLPLRLVAASIPRGVPILGVGRSVSFRHREAWRPHGPAGRRPAA
GTAVQRQEEIREGLRDRGAAEQARQQAQIRHQMAEDSKADYSSILQKFNHEQHEYYHTHIPNIFQKIQEMEERRIVRMGESMKTYAEVDR
QVIPIIGKCLDGIVKAAESIDQKNDSQLVIEAYKSGFEPPGDIEFEDYTQPMKRTVSDNSLSNSRGEGKPDLKFGGKSKGKLWPFIKKNK
LMSLLTSPHQPPPPPPASASPSAVPNGPQSPKQQKEPLSHRFNEFMTSKPKIHCFRSLKRGLSLKLGATPEDFSNLPPEQRRKKLQQKVD
ELNKEIQKEMDQRDAITKMKDVYLKNPQMGDPASLDHKLAEVSQNIEKLRVETQKFEAWLAEVEGRLPARSEQARRQSGLYDSQNPPTVN
NCAQDRESPDGSYTEEQSQESEMKVLATDFDDEFDDEEPLPAIGTCKALYTFEGQNEGTISVVEGETLYVIEEDKGDGWTRIRRNEDEEG

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

Top

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/chr1:154909067/chr9:132691974)
- 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
.	FNBP1 Q5T0N5
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.	FUNCTION: Required to coordinate membrane tubulation with reorganization of the actin cytoskeleton during endocytosis. May bind to lipids such as phosphatidylinositol 4,5-bisphosphate and phosphatidylserine and promote membrane invagination and the formation of tubules. Also promotes CDC42-induced actin polymerization by activating the WASL/N-WASP-WASPIP/WIP complex, the predominant form of WASL/N-WASP in cells. Actin polymerization may promote the fission of membrane tubules to form endocytic vesicles. Essential for autophagy of intracellular bacterial pathogens. {ECO:0000269\|PubMed:15260990, ECO:0000269\|PubMed:16326391, ECO:0000269\|PubMed:19342671}.

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

PMVK

chr1:154909067

chr9:132691974

ENST00000368467

17_23

31.666666666666668

193.0

Nucleotide binding

ATP

Tgene

FNBP1

chr1:154909067

chr9:132691974

ENST00000355681

398_490

171.0

593.0

Coiled coil

Ontology_term=ECO:0000250

Tgene

FNBP1

chr1:154909067

chr9:132691974

ENST00000446176

398_490

171.0

618.0

Coiled coil

Ontology_term=ECO:0000250

Tgene

FNBP1

chr1:154909067

chr9:132691974

ENST00000355681

340_345

171.0

593.0

Compositional bias

Note=Poly-Pro

Tgene

FNBP1

chr1:154909067

chr9:132691974

ENST00000446176

340_345

171.0

618.0

Compositional bias

Note=Poly-Pro

Tgene

FNBP1

chr1:154909067

chr9:132691974

ENST00000355681

404_481

171.0

593.0

Domain

REM-1

Tgene

FNBP1

chr1:154909067

chr9:132691974

ENST00000355681

550_611

171.0

593.0

Domain

SH3

Tgene

FNBP1

chr1:154909067

chr9:132691974

ENST00000446176

404_481

171.0

618.0

Domain

REM-1

Tgene

FNBP1

chr1:154909067

chr9:132691974

ENST00000446176

550_611

171.0

618.0

Domain

SH3

Tgene

FNBP1

chr1:154909067

chr9:132691974

ENST00000355681

251_617

171.0

593.0

Region

Note=Required for self-association and induction of membrane tubulation

Tgene

FNBP1

chr1:154909067

chr9:132691974

ENST00000446176

251_617

171.0

618.0

Region

Note=Required for self-association and induction of membrane tubulation

- 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

Tgene

FNBP1

chr1:154909067

chr9:132691974

ENST00000355681

67_259

171.0

593.0

Coiled coil

Ontology_term=ECO:0000269

Tgene

FNBP1

chr1:154909067

chr9:132691974

ENST00000446176

67_259

171.0

618.0

Coiled coil

Ontology_term=ECO:0000269

Tgene

FNBP1

chr1:154909067

chr9:132691974

ENST00000355681

1_264

171.0

593.0

Domain

F-BAR

Tgene

FNBP1

chr1:154909067

chr9:132691974

ENST00000446176

1_264

171.0

618.0

Domain

F-BAR

Tgene

FNBP1

chr1:154909067

chr9:132691974

ENST00000355681

1_79

171.0

593.0

Region

Note=Required for self-association and induction of membrane tubulation

Tgene

FNBP1

chr1:154909067

chr9:132691974

ENST00000446176

1_79

171.0

618.0

Region

Note=Required for self-association and induction of membrane tubulation

Top

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
PMVK
FNBP1

- 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
Tgene	FNBP1	chr1:154909067	chr9:132691974	ENST00000355681		5	16	1_335	171.0	593.0	microtubules
Tgene	FNBP1	chr1:154909067	chr9:132691974	ENST00000446176		5	17	1_335	171.0	618.0	microtubules

Top

Related Drugs to PMVK-FNBP1

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

Hgene

Tgene

Drug

Source

PMID

Top

Related Diseases to PMVK-FNBP1

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