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:BLZF1-MPC2

Fusion Protein Summary

Fusion gene summary

Fusion partner gene information	Fusion gene name: BLZF1-MPC2
	FusionPDB ID: 9846
	FusionGDB2.0 ID: 9846
		Hgene	Tgene
	Gene symbol	BLZF1	MPC2
	Gene ID	8548	25874
	Gene name	basic leucine zipper nuclear factor 1	mitochondrial pyruvate carrier 2
	Synonyms	GOLGIN-45\|JEM-1\|JEM-1s\|JEM1	BRP44\|SLC54A2
	Cytomap	1q24.2	1q24.2
	Type of gene	protein-coding	protein-coding
	Description	golgin-45JEM-1short proteincytoplasmic proteinleucine zipper nuclear factorp45 basic leucine-zipper nuclear factor	mitochondrial pyruvate carrier 2brain protein 44
	Modification date	20200313	20200313
	UniProtAcc	Q9H2G9	O95563
Ensembl transtripts involved in fusion gene	ENST ids	ENST00000329281, ENST00000367807, ENST00000367808,	ENST00000271373, ENST00000367846,
Fusion gene scores for assessment (based on all fusion genes of FusionGDB 2.0)	* DoF score	2 X 2 X 2=8	7 X 5 X 6=210
	# samples	2	7
	** MAII score	log2(2/8*10)=1.32192809488736	log2(7/210*10)=-1.58496250072116 possibly effective Gene in Pan-Cancer Fusion Genes (peGinPCFGs). DoF>8 and MAII<0
Context (manual curation of fusion genes in FusionPDB)	PubMed: BLZF1 [Title/Abstract] AND MPC2 [Title/Abstract] AND fusion [Title/Abstract]
Most frequent breakpoint (based on all fusion genes of FusionGDB 2.0)	BLZF1(169338788)-MPC2(167893775), # samples:1
Anticipated loss of major functional domain due to fusion event.	BLZF1-MPC2 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. BLZF1-MPC2 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	BLZF1	GO:0007030	Golgi organization	11739401
Hgene	BLZF1	GO:0043001	Golgi to plasma membrane protein transport	11739401

Fusion gene breakpoints across BLZF1 (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 MPC2 (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	BRCA	TCGA-AR-A0TT-01A	BLZF1	chr1	169338788	+	MPC2	chr1	167893775	-

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)
ENST00000367807	BLZF1	chr1	169338788	+	ENST00000367846	MPC2	chr1	167893775	-	2320	451	1563	1258	101
ENST00000367807	BLZF1	chr1	169338788	+	ENST00000271373	MPC2	chr1	167893775	-	981	451	423	725	100
ENST00000367808	BLZF1	chr1	169338788	+	ENST00000367846	MPC2	chr1	167893775	-	2320	451	1563	1258	101
ENST00000367808	BLZF1	chr1	169338788	+	ENST00000271373	MPC2	chr1	167893775	-	981	451	423	725	100
ENST00000329281	BLZF1	chr1	169338788	+	ENST00000367846	MPC2	chr1	167893775	-	2320	451	1563	1258	101
ENST00000329281	BLZF1	chr1	169338788	+	ENST00000271373	MPC2	chr1	167893775	-	981	451	423	725	100

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
ENST00000367807	ENST00000367846	BLZF1	chr1	169338788	+	MPC2	chr1	167893775	-	0.82581383	0.17418613
ENST00000367807	ENST00000271373	BLZF1	chr1	169338788	+	MPC2	chr1	167893775	-	0.79906404	0.20093592
ENST00000367808	ENST00000367846	BLZF1	chr1	169338788	+	MPC2	chr1	167893775	-	0.82581383	0.17418613
ENST00000367808	ENST00000271373	BLZF1	chr1	169338788	+	MPC2	chr1	167893775	-	0.79906404	0.20093592
ENST00000329281	ENST00000367846	BLZF1	chr1	169338788	+	MPC2	chr1	167893775	-	0.82581383	0.17418613
ENST00000329281	ENST00000271373	BLZF1	chr1	169338788	+	MPC2	chr1	167893775	-	0.79906404	0.20093592

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

>9846_9846_1_BLZF1-MPC2_BLZF1_chr1_169338788_ENST00000329281_MPC2_chr1_167893775_ENST00000271373_length(amino acids)=100AA_BP=9
MTTKNLETKGPRTVFFWAPIMKWGLVCAGLADMARPAEKLSTAQSAVLMATGFIWSRYSLVIIPKNWSLFAVNFFVGAAGASQLFRIWRY

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

>9846_9846_2_BLZF1-MPC2_BLZF1_chr1_169338788_ENST00000329281_MPC2_chr1_167893775_ENST00000367846_length(amino acids)=101AA_BP=
MLGRLRQEDHLSPGGRVCSEPRLCHCTPAWATERDPVSKKKKKKKSQQISHRAGIQIQVCLNIEYFLLHYQLLRVIEKFNTYHGPGTMLK

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

>9846_9846_3_BLZF1-MPC2_BLZF1_chr1_169338788_ENST00000367807_MPC2_chr1_167893775_ENST00000271373_length(amino acids)=100AA_BP=9
MTTKNLETKGPRTVFFWAPIMKWGLVCAGLADMARPAEKLSTAQSAVLMATGFIWSRYSLVIIPKNWSLFAVNFFVGAAGASQLFRIWRY

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

>9846_9846_4_BLZF1-MPC2_BLZF1_chr1_169338788_ENST00000367807_MPC2_chr1_167893775_ENST00000367846_length(amino acids)=101AA_BP=
MLGRLRQEDHLSPGGRVCSEPRLCHCTPAWATERDPVSKKKKKKKSQQISHRAGIQIQVCLNIEYFLLHYQLLRVIEKFNTYHGPGTMLK

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

>9846_9846_5_BLZF1-MPC2_BLZF1_chr1_169338788_ENST00000367808_MPC2_chr1_167893775_ENST00000271373_length(amino acids)=100AA_BP=9
MTTKNLETKGPRTVFFWAPIMKWGLVCAGLADMARPAEKLSTAQSAVLMATGFIWSRYSLVIIPKNWSLFAVNFFVGAAGASQLFRIWRY

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

>9846_9846_6_BLZF1-MPC2_BLZF1_chr1_169338788_ENST00000367808_MPC2_chr1_167893775_ENST00000367846_length(amino acids)=101AA_BP=
MLGRLRQEDHLSPGGRVCSEPRLCHCTPAWATERDPVSKKKKKKKSQQISHRAGIQIQVCLNIEYFLLHYQLLRVIEKFNTYHGPGTMLK

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

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/chr1:169338788/chr1:167893775)
- 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
BLZF1 Q9H2G9	MPC2 O95563
FUNCTION: Required for normal Golgi structure and for protein transport from the endoplasmic reticulum (ER) through the Golgi apparatus to the cell surface. {ECO:0000269\|PubMed:11739401}.	FUNCTION: Mediates the uptake of pyruvate into mitochondria. {ECO:0000269\|PubMed:22628558}.

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

Tgene

MPC2

chr1:169338788

chr1:167893775

ENST00000271373

41_61

36.333333333333336

128.0

Transmembrane

Helical

Tgene

MPC2

chr1:169338788

chr1:167893775

ENST00000271373

73_90

36.333333333333336

128.0

Transmembrane

Helical

Tgene

MPC2

chr1:169338788

chr1:167893775

ENST00000271373

96_115

36.333333333333336

128.0

Transmembrane

Helical

Tgene

MPC2

chr1:169338788

chr1:167893775

ENST00000367846

41_61

36.333333333333336

128.0

Transmembrane

Helical

Tgene

MPC2

chr1:169338788

chr1:167893775

ENST00000367846

73_90

36.333333333333336

128.0

Transmembrane

Helical

Tgene

MPC2

chr1:169338788

chr1:167893775

ENST00000367846

96_115

36.333333333333336

128.0

Transmembrane

Helical

- 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

BLZF1

chr1:169338788

chr1:167893775

ENST00000329281

120_213

9.333333333333334

492.3333333333333

Coiled coil

Ontology_term=ECO:0000255

Hgene

BLZF1

chr1:169338788

chr1:167893775

ENST00000367807

120_213

9.333333333333334

175.0

Coiled coil

Ontology_term=ECO:0000255

Hgene

BLZF1

chr1:169338788

chr1:167893775

ENST00000367808

120_213

9.333333333333334

401.0

Coiled coil

Ontology_term=ECO:0000255

Hgene

BLZF1

chr1:169338788

chr1:167893775

ENST00000329281

18_22

9.333333333333334

492.3333333333333

Motif

Note=Tankyrase-binding motif

Hgene

BLZF1

chr1:169338788

chr1:167893775

ENST00000367807

18_22

9.333333333333334

175.0

Motif

Note=Tankyrase-binding motif

Hgene

BLZF1

chr1:169338788

chr1:167893775

ENST00000367808

18_22

9.333333333333334

401.0

Motif

Note=Tankyrase-binding motif

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
BLZF1
MPC2

- 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 BLZF1-MPC2

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

Hgene

Tgene

Drug

Source

PMID

Top

Related Diseases to BLZF1-MPC2

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