UTHEALTH HOME ABOUT SBMI A-Z WEBMAIL INSIDE THE UNIVERSITY

Home

Download

Statistics

Examples

Help

Contact

level2

	Fusion Gene Summary
	Fusion Gene Sample Information
	Fusion ORF Analysis
	Fusion Amino Acid Sequences
	Fusion Protein Functional Features
	Fusion Protein Structure
	pLDDT scores
	Ramachandran Plot of Fusion Protein Structure
	Fusion Protein-Protein Interaction
	Related drugs with this fusion protein
	Related disease with this fusion protein

Fusion Protein:OPN3-FH

Fusion Protein Summary

Fusion gene summary

Fusion partner gene information	Fusion gene name: OPN3-FH
	FusionPDB ID: 61561
	FusionGDB2.0 ID: 61561
		Hgene	Tgene
	Gene symbol	OPN3	FH
	Gene ID	23596	3949
	Gene name	opsin 3	low density lipoprotein receptor
	Synonyms	ECPN\|PPP1R116	FH\|FHC\|FHCL1\|LDLCQ2
	Cytomap	1q43	19p13.2
	Type of gene	protein-coding	protein-coding
	Description	opsin-3encephalopsinopsin 3 (encephalopsin, panopsin)protein phosphatase 1, regulatory subunit 116	low-density lipoprotein receptorLDL receptorlow-density lipoprotein receptor class A domain-containing protein 3
	Modification date	20200329	20200322
	UniProtAcc	.	Q2V2M9
Ensembl transtripts involved in fusion gene	ENST ids	ENST00000331838, ENST00000366554, ENST00000469376,	ENST00000493477, ENST00000366560,
Fusion gene scores for assessment (based on all fusion genes of FusionGDB 2.0)	* DoF score	3 X 2 X 3=18	1 X 1 X 1=1
	# samples	5	1
	** MAII score	log2(5/18*10)=1.47393118833241 effective Gene in Pan-Cancer Fusion Genes (eGinPCFGs). DoF>8 and MAII>0	log2(1/1*10)=3.32192809488736
Context (manual curation of fusion genes in FusionPDB)	PubMed: OPN3 [Title/Abstract] AND FH [Title/Abstract] AND fusion [Title/Abstract]
Most frequent breakpoint (based on all fusion genes of FusionGDB 2.0)	OPN3(241803184)-FH(241680616), # samples:3
Anticipated loss of major functional domain due to fusion event.	OPN3-FH 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. OPN3-FH 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

Fusion gene breakpoints across OPN3 (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 FH (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	COAD	TCGA-CM-5348-01A	OPN3	chr1	241803184	-	FH	chr1	241680616	-
ChimerDB4	COAD	TCGA-D5-6923-01A	OPN3	chr1	241803184	-	FH	chr1	241680616	-

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)
ENST00000366554	OPN3	chr1	241803184	-	ENST00000366560	FH	chr1	241680616	-	2106	480	576	1880	434
ENST00000331838	OPN3	chr1	241803184	-	ENST00000366560	FH	chr1	241680616	-	2144	518	614	1918	434

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
ENST00000366554	ENST00000366560	OPN3	chr1	241803184	-	FH	chr1	241680616	-	0.002132051	0.99786794
ENST00000331838	ENST00000366560	OPN3	chr1	241803184	-	FH	chr1	241680616	-	0.002178512	0.99782145

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

>61561_61561_1_OPN3-FH_OPN3_chr1_241803184_ENST00000331838_FH_chr1_241680616_ENST00000366560_length(amino acids)=434AA_BP=
MNFKIGGVTERMPTPVIKAFGILKRAAAEVNQDYGLDPKIANAIMKAADEVAEGKLNDHFPLVVWQTGSGTQTNMNVNEVISNRAIEMLG
GELGSKIPVHPNDHVNKSQSSNDTFPTAMHIAAAIEVHEVLLPGLQKLHDALDAKSKEFAQIIKIGRTHTQDAVPLTLGQEFSGYVQQVK
YAMTRIKAAMPRIYELAAGGTAVGTGLNTRIGFAEKVAAKVAALTGLPFVTAPNKFEALAAHDALVELSGAMNTTACSLMKIANDIRFLG
SGPRSGLGELILPENEPGSSIMPGKVNPTQCEAMTMVAAQVMGNHVAVTVGGSNGHFELNVFKPMMIKNVLHSARLLGDASVSFTENCVV

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

>61561_61561_2_OPN3-FH_OPN3_chr1_241803184_ENST00000366554_FH_chr1_241680616_ENST00000366560_length(amino acids)=434AA_BP=
MNFKIGGVTERMPTPVIKAFGILKRAAAEVNQDYGLDPKIANAIMKAADEVAEGKLNDHFPLVVWQTGSGTQTNMNVNEVISNRAIEMLG
GELGSKIPVHPNDHVNKSQSSNDTFPTAMHIAAAIEVHEVLLPGLQKLHDALDAKSKEFAQIIKIGRTHTQDAVPLTLGQEFSGYVQQVK
YAMTRIKAAMPRIYELAAGGTAVGTGLNTRIGFAEKVAAKVAALTGLPFVTAPNKFEALAAHDALVELSGAMNTTACSLMKIANDIRFLG
SGPRSGLGELILPENEPGSSIMPGKVNPTQCEAMTMVAAQVMGNHVAVTVGGSNGHFELNVFKPMMIKNVLHSARLLGDASVSFTENCVV

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

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/chr1:241803184/chr1:241680616)
- 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
.	FH Q2V2M9
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: Actin-organizing protein that may cause stress fiber formation together with cell elongation (By similarity). Isoform 4 may play a role in actin filament polymerization in cardiomyocytes. {ECO:0000250, ECO:0000269\|PubMed:21149568}.

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

OPN3

chr1:241803184

chr1:241680616

ENST00000331838

103_117

124.33333333333333

324.0

Topological domain

Extracellular

Hgene

OPN3

chr1:241803184

chr1:241680616

ENST00000331838

1_40

124.33333333333333

324.0

Topological domain

Extracellular

Hgene

OPN3

chr1:241803184

chr1:241680616

ENST00000331838

66_77

124.33333333333333

324.0

Topological domain

Cytoplasmic

Hgene

OPN3

chr1:241803184

chr1:241680616

ENST00000366554

103_117

124.33333333333333

403.0

Topological domain

Extracellular

Hgene

OPN3

chr1:241803184

chr1:241680616

ENST00000366554

1_40

124.33333333333333

403.0

Topological domain

Extracellular

Hgene

OPN3

chr1:241803184

chr1:241680616

ENST00000366554

66_77

124.33333333333333

403.0

Topological domain

Cytoplasmic

Hgene

OPN3

chr1:241803184

chr1:241680616

ENST00000331838

41_65

124.33333333333333

324.0

Transmembrane

Helical%3B Name%3D1

Hgene

OPN3

chr1:241803184

chr1:241680616

ENST00000331838

78_102

124.33333333333333

324.0

Transmembrane

Helical%3B Name%3D2

Hgene

OPN3

chr1:241803184

chr1:241680616

ENST00000366554

41_65

124.33333333333333

403.0

Transmembrane

Helical%3B Name%3D1

Hgene

OPN3

chr1:241803184

chr1:241680616

ENST00000366554

78_102

124.33333333333333

403.0

Transmembrane

Helical%3B Name%3D2

Tgene

chr1:241803184

chr1:241680616

ENST00000366560

145_147

44.0

511.0

Region

Substrate binding

Tgene

chr1:241803184

chr1:241680616

ENST00000366560

176_179

44.0

511.0

Region

Substrate binding (B site)

Tgene

chr1:241803184

chr1:241680616

ENST00000366560

186_188

44.0

511.0

Region

Substrate binding

Tgene

chr1:241803184

chr1:241680616

ENST00000366560

371_373

44.0

511.0

Region

Substrate binding

- 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

Hgene

OPN3

chr1:241803184

chr1:241680616

ENST00000331838

138_153

124.33333333333333

324.0

Topological domain

Cytoplasmic

Hgene

OPN3

chr1:241803184

chr1:241680616

ENST00000331838

178_201

124.33333333333333

324.0

Topological domain

Extracellular

Hgene

OPN3

chr1:241803184

chr1:241680616

ENST00000331838

230_255

124.33333333333333

324.0

Topological domain

Cytoplasmic

Hgene

OPN3

chr1:241803184

chr1:241680616

ENST00000331838

280_287

124.33333333333333

324.0

Topological domain

Extracellular

Hgene

OPN3

chr1:241803184

chr1:241680616

ENST00000331838

313_402

124.33333333333333

324.0

Topological domain

Cytoplasmic

Hgene

OPN3

chr1:241803184

chr1:241680616

ENST00000366554

138_153

124.33333333333333

403.0

Topological domain

Cytoplasmic

Hgene

OPN3

chr1:241803184

chr1:241680616

ENST00000366554

178_201

124.33333333333333

403.0

Topological domain

Extracellular

Hgene

OPN3

chr1:241803184

chr1:241680616

ENST00000366554

230_255

124.33333333333333

403.0

Topological domain

Cytoplasmic

Hgene

OPN3

chr1:241803184

chr1:241680616

ENST00000366554

280_287

124.33333333333333

403.0

Topological domain

Extracellular

Hgene

OPN3

chr1:241803184

chr1:241680616

ENST00000366554

313_402

124.33333333333333

403.0

Topological domain

Cytoplasmic

Hgene

OPN3

chr1:241803184

chr1:241680616

ENST00000331838

118_137

124.33333333333333

324.0

Transmembrane

Helical%3B Name%3D3

Hgene

OPN3

chr1:241803184

chr1:241680616

ENST00000331838

154_177

124.33333333333333

324.0

Transmembrane

Helical%3B Name%3D4

Hgene

OPN3

chr1:241803184

chr1:241680616

ENST00000331838

202_229

124.33333333333333

324.0

Transmembrane

Helical%3B Name%3D5

Hgene

OPN3

chr1:241803184

chr1:241680616

ENST00000331838

256_279

124.33333333333333

324.0

Transmembrane

Helical%3B Name%3D6

Hgene

OPN3

chr1:241803184

chr1:241680616

ENST00000331838

288_312

124.33333333333333

324.0

Transmembrane

Helical%3B Name%3D7

Hgene

OPN3

chr1:241803184

chr1:241680616

ENST00000366554

118_137

124.33333333333333

403.0

Transmembrane

Helical%3B Name%3D3

Hgene

OPN3

chr1:241803184

chr1:241680616

ENST00000366554

154_177

124.33333333333333

403.0

Transmembrane

Helical%3B Name%3D4

Hgene

OPN3

chr1:241803184

chr1:241680616

ENST00000366554

202_229

124.33333333333333

403.0

Transmembrane

Helical%3B Name%3D5

Hgene

OPN3

chr1:241803184

chr1:241680616

ENST00000366554

256_279

124.33333333333333

403.0

Transmembrane

Helical%3B Name%3D6

Hgene

OPN3

chr1:241803184

chr1:241680616

ENST00000366554

288_312

124.33333333333333

403.0

Transmembrane

Helical%3B Name%3D7

Top

Fusion Protein Structures

PDB and CIF files of the predicted fusion proteins
* Here we show the 3D structure of the fusion proteins using Mol*. AlphaFold produces a per-residue confidence score (pLDDT) between 0 and 100. Model confidence is shown from the pLDDT values per residue. pLDDT corresponds to the model’s prediction of its score on the local Distance Difference Test. It is a measure of local accuracy (from AlphfaFold website). To color code individual residues, we transformed individual PDB files into CIF format.

Fusion protein PDB link (fusion AA seq ID in FusionPDB)	Hgene	Hchr	Hbp	Hstrand	Tgene	Tchr	Tbp	Tstrand	AA seq	Len(AA seq)
PDB file >>>911_OPN3_241803184_FH_241680616_911_OPN3_241803184_FH_241680616_ranked_0.pdb	OPN3	241803184	241803184	ENST00000366560	FH	chr1	241680616	-	MNFKIGGVTERMPTPVIKAFGILKRAAAEVNQDYGLDPKIANAIMKAADEVAEGKLNDHFPLVVWQTGSGTQTNMNVNEVISNRAIEMLG GELGSKIPVHPNDHVNKSQSSNDTFPTAMHIAAAIEVHEVLLPGLQKLHDALDAKSKEFAQIIKIGRTHTQDAVPLTLGQEFSGYVQQVK YAMTRIKAAMPRIYELAAGGTAVGTGLNTRIGFAEKVAAKVAALTGLPFVTAPNKFEALAAHDALVELSGAMNTTACSLMKIANDIRFLG SGPRSGLGELILPENEPGSSIMPGKVNPTQCEAMTMVAAQVMGNHVAVTVGGSNGHFELNVFKPMMIKNVLHSARLLGDASVSFTENCVV	434

Top

pLDDT score distribution

pLDDT score distribution of the predicted wild-type structures of two partner proteins from AlphaFold2
* AlphaFold produces a per-residue confidence score (pLDDT) between 0 and 100.

OPN3_pLDDT.png

FH_pLDDT.png

pLDDT score distribution of the predicted fusion protein structures from AlphaFold2
* AlphaFold produces a per-residue confidence score (pLDDT) between 0 and 100.

Top

Ramachandran Plot of Fusion Protein Structure

Ramachandran plot of the torsional angles - phi (φ)and psi (ψ) - of the residues (amino acids) contained in this fusion protein peptide.

Fusion AA seq ID in FusionPDB and their Ramachandran plots

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
OPN3
FH

- 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

Top

Related Drugs to OPN3-FH

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

Hgene

Tgene

Drug

Source

PMID

Top

Related Diseases to OPN3-FH

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