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	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:MRPL48-DTX4

Fusion Protein Summary

Fusion gene summary

Fusion partner gene information	Fusion gene name: MRPL48-DTX4
	FusionPDB ID: 55064
	FusionGDB2.0 ID: 55064
		Hgene	Tgene
	Gene symbol	MRPL48	DTX4
	Gene ID	51642	23220
	Gene name	mitochondrial ribosomal protein L48	deltex E3 ubiquitin ligase 4
	Synonyms	CGI-118\|HSPC290\|L48MT\|MRP-L48	RNF155
	Cytomap	11q13.4	11q12.1
	Type of gene	protein-coding	protein-coding
	Description	39S ribosomal protein L48, mitochondrialmitochondrial large ribosomal subunit protein mL48	E3 ubiquitin-protein ligase DTX4RING finger protein 155RING-type E3 ubiquitin transferase DTX4deltex 4 homologdeltex 4, E3 ubiquitin ligasedeltex homolog 4deltex4protein deltex-4
	Modification date	20200313	20200313
	UniProtAcc	Q96GC5	Q9Y2E6
Ensembl transtripts involved in fusion gene	ENST ids	ENST00000310614, ENST00000535529, ENST00000542303, ENST00000398483, ENST00000411840, ENST00000314282,	ENST00000531902, ENST00000227451, ENST00000532982,
Fusion gene scores for assessment (based on all fusion genes of FusionGDB 2.0)	* DoF score	16 X 9 X 9=1296	4 X 4 X 3=48
	# samples	19	5
	** MAII score	log2(19/1296*10)=-2.76999439455368 possibly effective Gene in Pan-Cancer Fusion Genes (peGinPCFGs). DoF>8 and MAII<0	log2(5/48*10)=0.0588936890535686 effective Gene in Pan-Cancer Fusion Genes (eGinPCFGs). DoF>8 and MAII>0
Context (manual curation of fusion genes in FusionPDB)	PubMed: MRPL48 [Title/Abstract] AND DTX4 [Title/Abstract] AND fusion [Title/Abstract]
Most frequent breakpoint (based on all fusion genes of FusionGDB 2.0)	MRPL48(73536841)-DTX4(58972149), # samples:17
Anticipated loss of major functional domain due to fusion event.	MRPL48-DTX4 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. MRPL48-DTX4 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 MRPL48 (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 DTX4 (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	BRCA	TCGA-A8-A06O-01A	MRPL48	chr11	73536841	+	DTX4	chr11	58972149	+
ChimerDB4	BRCA	TCGA-A8-A076-01A	MRPL48	chr11	73536841	+	DTX4	chr11	58972149	+
ChimerDB4	BRCA	TCGA-A8-A07P-01A	MRPL48	chr11	73536841	-	DTX4	chr11	58972149	+
ChimerDB4	BRCA	TCGA-A8-A07P-01A	MRPL48	chr11	73536841	+	DTX4	chr11	58972149	+
ChimerDB4	BRCA	TCGA-A8-A086-01A	MRPL48	chr11	73536841	-	DTX4	chr11	58972149	+
ChimerDB4	BRCA	TCGA-A8-A086-01A	MRPL48	chr11	73536841	+	DTX4	chr11	58972149	+
ChimerDB4	BRCA	TCGA-A8-A08J-01A	MRPL48	chr11	73536841	-	DTX4	chr11	58972149	+
ChimerDB4	BRCA	TCGA-A8-A08J-01A	MRPL48	chr11	73536841	+	DTX4	chr11	58972149	+
ChimerDB4	BRCA	TCGA-A8-A092-01A	MRPL48	chr11	73536841	-	DTX4	chr11	58972149	+
ChimerDB4	BRCA	TCGA-A8-A092-01A	MRPL48	chr11	73536841	+	DTX4	chr11	58972149	+
ChimerDB4	BRCA	TCGA-A8-A093-01A	MRPL48	chr11	73536841	-	DTX4	chr11	58972149	+
ChimerDB4	BRCA	TCGA-A8-A093-01A	MRPL48	chr11	73536841	+	DTX4	chr11	58972149	+
ChimerDB4	BRCA	TCGA-A8-A093	MRPL48	chr11	73536841	+	DTX4	chr11	58972148	+

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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)
ENST00000310614	MRPL48	chr11	73536841	+	ENST00000532982	DTX4	chr11	58972149	+	1091	857	509	1090	194
ENST00000310614	MRPL48	chr11	73536841	+	ENST00000227451	DTX4	chr11	58972149	+	4769	857	509	1090	193
ENST00000535529	MRPL48	chr11	73536841	+	ENST00000532982	DTX4	chr11	58972149	+	593	359	212	592	127
ENST00000535529	MRPL48	chr11	73536841	+	ENST00000227451	DTX4	chr11	58972149	+	4271	359	623	1120	165
ENST00000542303	MRPL48	chr11	73536841	+	ENST00000532982	DTX4	chr11	58972149	+	498	264	63	497	144
ENST00000542303	MRPL48	chr11	73536841	+	ENST00000227451	DTX4	chr11	58972149	+	4176	264	528	1025	165
ENST00000310614	MRPL48	chr11	73536841	+	ENST00000532982	DTX4	chr11	58972148	+	1091	857	509	1090	194
ENST00000310614	MRPL48	chr11	73536841	+	ENST00000227451	DTX4	chr11	58972148	+	4769	857	509	1090	193
ENST00000535529	MRPL48	chr11	73536841	+	ENST00000532982	DTX4	chr11	58972148	+	593	359	212	592	127
ENST00000535529	MRPL48	chr11	73536841	+	ENST00000227451	DTX4	chr11	58972148	+	4271	359	623	1120	165
ENST00000542303	MRPL48	chr11	73536841	+	ENST00000532982	DTX4	chr11	58972148	+	498	264	63	497	144
ENST00000542303	MRPL48	chr11	73536841	+	ENST00000227451	DTX4	chr11	58972148	+	4176	264	528	1025	165

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
ENST00000310614	ENST00000532982	MRPL48	chr11	73536841	+	DTX4	chr11	58972149	+	0.01312082	0.98687917
ENST00000310614	ENST00000227451	MRPL48	chr11	73536841	+	DTX4	chr11	58972149	+	0.006963977	0.993036
ENST00000535529	ENST00000532982	MRPL48	chr11	73536841	+	DTX4	chr11	58972149	+	0.011725848	0.9882741
ENST00000535529	ENST00000227451	MRPL48	chr11	73536841	+	DTX4	chr11	58972149	+	0.4215679	0.5784321
ENST00000542303	ENST00000532982	MRPL48	chr11	73536841	+	DTX4	chr11	58972149	+	0.011505155	0.9884948
ENST00000542303	ENST00000227451	MRPL48	chr11	73536841	+	DTX4	chr11	58972149	+	0.4492059	0.5507941
ENST00000310614	ENST00000532982	MRPL48	chr11	73536841	+	DTX4	chr11	58972148	+	0.01312082	0.98687917
ENST00000310614	ENST00000227451	MRPL48	chr11	73536841	+	DTX4	chr11	58972148	+	0.006963977	0.993036
ENST00000535529	ENST00000532982	MRPL48	chr11	73536841	+	DTX4	chr11	58972148	+	0.011725848	0.9882741
ENST00000535529	ENST00000227451	MRPL48	chr11	73536841	+	DTX4	chr11	58972148	+	0.4215679	0.5784321
ENST00000542303	ENST00000532982	MRPL48	chr11	73536841	+	DTX4	chr11	58972148	+	0.011505155	0.9884948
ENST00000542303	ENST00000227451	MRPL48	chr11	73536841	+	DTX4	chr11	58972148	+	0.4492059	0.5507941

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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

>55064_55064_1_MRPL48-DTX4_MRPL48_chr11_73536841_ENST00000310614_DTX4_chr11_58972148_ENST00000227451_length(amino acids)=193AA_BP=116
MMWKLSESRWDIAAAPGQGRSFSVFRRPGNAAAGSGLRFAQLEAAQQQRMSGTLEKVLCLRNNTIFKQAFSLLRFRTSGEKPIYSVGGIL
LSISRPYKTKPTHGIGKYKHLIKAEEVLKLLLVAWDRRLIFAIGTSSTTGESDTVIWNEVHHKTEFGSNLTGHGYPDANYLDNVLAELAA

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

>55064_55064_2_MRPL48-DTX4_MRPL48_chr11_73536841_ENST00000310614_DTX4_chr11_58972148_ENST00000532982_length(amino acids)=194AA_BP=116
MMWKLSESRWDIAAAPGQGRSFSVFRRPGNAAAGSGLRFAQLEAAQQQRMSGTLEKVLCLRNNTIFKQAFSLLRFRTSGEKPIYSVGGIL
LSISRPYKTKPTHGIGKYKHLIKAEEVLKLLLVAWDRRLIFAIGTSSTTGESDTVIWNEVHHKTEFGSNLTGHGYPDANYLDNVLAELAA

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

>55064_55064_3_MRPL48-DTX4_MRPL48_chr11_73536841_ENST00000310614_DTX4_chr11_58972149_ENST00000227451_length(amino acids)=193AA_BP=116
MMWKLSESRWDIAAAPGQGRSFSVFRRPGNAAAGSGLRFAQLEAAQQQRMSGTLEKVLCLRNNTIFKQAFSLLRFRTSGEKPIYSVGGIL
LSISRPYKTKPTHGIGKYKHLIKAEEVLKLLLVAWDRRLIFAIGTSSTTGESDTVIWNEVHHKTEFGSNLTGHGYPDANYLDNVLAELAA

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

>55064_55064_4_MRPL48-DTX4_MRPL48_chr11_73536841_ENST00000310614_DTX4_chr11_58972149_ENST00000532982_length(amino acids)=194AA_BP=116
MMWKLSESRWDIAAAPGQGRSFSVFRRPGNAAAGSGLRFAQLEAAQQQRMSGTLEKVLCLRNNTIFKQAFSLLRFRTSGEKPIYSVGGIL
LSISRPYKTKPTHGIGKYKHLIKAEEVLKLLLVAWDRRLIFAIGTSSTTGESDTVIWNEVHHKTEFGSNLTGHGYPDANYLDNVLAELAA

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

>55064_55064_5_MRPL48-DTX4_MRPL48_chr11_73536841_ENST00000535529_DTX4_chr11_58972148_ENST00000227451_length(amino acids)=165AA_BP=
METAGQEVRRVSQCRRSWCPALPTFYPPLLPCVHPSSLPTTVGARLNIATSFINLIQHKGRWDEGHPGSVPMEFLVLGRQESPPYPTSQV

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

>55064_55064_6_MRPL48-DTX4_MRPL48_chr11_73536841_ENST00000535529_DTX4_chr11_58972148_ENST00000532982_length(amino acids)=127AA_BP=49
MGLSSCRKTSSGLPLILHYGGILLSISRPYKTKPTHGIGKYKHLIKAEEVLKLLLVAWDRRLIFAIGTSSTTGESDTVIWNEVHHKTEFG

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

>55064_55064_7_MRPL48-DTX4_MRPL48_chr11_73536841_ENST00000535529_DTX4_chr11_58972149_ENST00000227451_length(amino acids)=165AA_BP=
METAGQEVRRVSQCRRSWCPALPTFYPPLLPCVHPSSLPTTVGARLNIATSFINLIQHKGRWDEGHPGSVPMEFLVLGRQESPPYPTSQV

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

>55064_55064_8_MRPL48-DTX4_MRPL48_chr11_73536841_ENST00000535529_DTX4_chr11_58972149_ENST00000532982_length(amino acids)=127AA_BP=49
MGLSSCRKTSSGLPLILHYGGILLSISRPYKTKPTHGIGKYKHLIKAEEVLKLLLVAWDRRLIFAIGTSSTTGESDTVIWNEVHHKTEFG

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

>55064_55064_9_MRPL48-DTX4_MRPL48_chr11_73536841_ENST00000542303_DTX4_chr11_58972148_ENST00000227451_length(amino acids)=165AA_BP=
METAGQEVRRVSQCRRSWCPALPTFYPPLLPCVHPSSLPTTVGARLNIATSFINLIQHKGRWDEGHPGSVPMEFLVLGRQESPPYPTSQV

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

>55064_55064_10_MRPL48-DTX4_MRPL48_chr11_73536841_ENST00000542303_DTX4_chr11_58972148_ENST00000532982_length(amino acids)=144AA_BP=67
MSGTLEKVLCLRNNTIFKQAFSLLRFRTSGEKPIYSVGGILLSISRPYKTKPTHGIGKYKHLIKAEEVLKLLLVAWDRRLIFAIGTSSTT

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

>55064_55064_11_MRPL48-DTX4_MRPL48_chr11_73536841_ENST00000542303_DTX4_chr11_58972149_ENST00000227451_length(amino acids)=165AA_BP=
METAGQEVRRVSQCRRSWCPALPTFYPPLLPCVHPSSLPTTVGARLNIATSFINLIQHKGRWDEGHPGSVPMEFLVLGRQESPPYPTSQV

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

>55064_55064_12_MRPL48-DTX4_MRPL48_chr11_73536841_ENST00000542303_DTX4_chr11_58972149_ENST00000532982_length(amino acids)=144AA_BP=67
MSGTLEKVLCLRNNTIFKQAFSLLRFRTSGEKPIYSVGGILLSISRPYKTKPTHGIGKYKHLIKAEEVLKLLLVAWDRRLIFAIGTSSTT

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

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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/chr11:73536841/chr11:58972149)
- 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
MRPL48 Q96GC5	DTX4 Q9Y2E6
	FUNCTION: Regulator of Notch signaling, a signaling pathway involved in cell-cell communications that regulates a broad spectrum of cell-fate determinations (By similarity). Functions as a ubiquitin ligase protein in vivo, mediating 'Lys48'-linked polyubiquitination and promoting degradation of TBK1, targeting to TBK1 requires interaction with NLRP4. {ECO:0000250, ECO:0000269\|PubMed:22388039}.

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

- 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

MRPL48

chr11:73536841

chr11:58972148

ENST00000310614

69_74

67.0

213.0

Compositional bias

Note=Poly-Lys

Hgene

MRPL48

chr11:73536841

chr11:58972149

ENST00000310614

69_74

67.0

213.0

Compositional bias

Note=Poly-Lys

Tgene

DTX4

chr11:73536841

chr11:58972148

ENST00000227451

1_78

542.0

620.0

Domain

WWE 1

Tgene

DTX4

chr11:73536841

chr11:58972148

ENST00000227451

79_155

542.0

620.0

Domain

WWE 2

Tgene

DTX4

chr11:73536841

chr11:58972148

ENST00000532982

1_78

436.0

514.0

Domain

WWE 1

Tgene

DTX4

chr11:73536841

chr11:58972148

ENST00000532982

79_155

436.0

514.0

Domain

WWE 2

Tgene

DTX4

chr11:73536841

chr11:58972149

ENST00000227451

1_78

542.0

620.0

Domain

WWE 1

Tgene

DTX4

chr11:73536841

chr11:58972149

ENST00000227451

79_155

542.0

620.0

Domain

WWE 2

Tgene

DTX4

chr11:73536841

chr11:58972149

ENST00000532982

1_78

436.0

514.0

Domain

WWE 1

Tgene

DTX4

chr11:73536841

chr11:58972149

ENST00000532982

79_155

436.0

514.0

Domain

WWE 2

Tgene

DTX4

chr11:73536841

chr11:58972148

ENST00000227451

409_468

542.0

620.0

Zinc finger

RING-type%3B atypical

Tgene

DTX4

chr11:73536841

chr11:58972148

ENST00000532982

409_468

436.0

514.0

Zinc finger

RING-type%3B atypical

Tgene

DTX4

chr11:73536841

chr11:58972149

ENST00000227451

409_468

542.0

620.0

Zinc finger

RING-type%3B atypical

Tgene

DTX4

chr11:73536841

chr11:58972149

ENST00000532982

409_468

436.0

514.0

Zinc finger

RING-type%3B atypical

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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)

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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.

MRPL48_pLDDT.png

DTX4_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.

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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

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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
MRPL48
DTX4

- 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 MRPL48-DTX4

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 MRPL48-DTX4

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