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:TSC1-DOLPP1

Fusion Protein Summary

Fusion gene summary

Fusion partner gene information	Fusion gene name: TSC1-DOLPP1
	FusionPDB ID: 94474
	FusionGDB2.0 ID: 94474
		Hgene	Tgene
	Gene symbol	TSC1	DOLPP1
	Gene ID	7248	57171
	Gene name	TSC complex subunit 1	dolichyldiphosphatase 1
	Synonyms	LAM\|TSC	LSFR2
	Cytomap	9q34.13	9q34.11
	Type of gene	protein-coding	protein-coding
	Description	hamartintruncated hemartintuberous sclerosis 1 protein	dolichyldiphosphatase 1dolichyl pyrophosphate phosphatase 1linked to Surfeit genes in Fugu rubripes 2
	Modification date	20200313	20200313
	UniProtAcc	.	Q86YN1
Ensembl transtripts involved in fusion gene	ENST ids	ENST00000298552, ENST00000403810, ENST00000440111, ENST00000545250, ENST00000475903,	ENST00000372546, ENST00000406974, ENST00000540102,
Fusion gene scores for assessment (based on all fusion genes of FusionGDB 2.0)	* DoF score	5 X 7 X 6=210	2 X 3 X 2=12
	# samples	8	3
	** MAII score	log2(8/210*10)=-1.39231742277876 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: TSC1 [Title/Abstract] AND DOLPP1 [Title/Abstract] AND fusion [Title/Abstract]
Most frequent breakpoint (based on all fusion genes of FusionGDB 2.0)	TSC1(135796750)-DOLPP1(131848988), # samples:3
Anticipated loss of major functional domain due to fusion event.	TSC1-DOLPP1 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. TSC1-DOLPP1 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. TSC1-DOLPP1 seems lost the major protein functional domain in Hgene partner, which is a CGC due to the frame-shifted ORF. TSC1-DOLPP1 seems lost the major protein functional domain in Hgene partner, which is a tumor suppressor due to the frame-shifted ORF. TSC1-DOLPP1 seems lost the major protein functional domain in Tgene partner, which is a cell metabolism gene due to the frame-shifted ORF. TSC1-DOLPP1 seems lost the major protein functional domain in Tgene partner, which is a essential gene due to the frame-shifted 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	TSC1	GO:0006417	regulation of translation	17308101
Hgene	TSC1	GO:0032780	negative regulation of ATPase activity	29127155
Hgene	TSC1	GO:0032868	response to insulin	16996505
Hgene	TSC1	GO:0050821	protein stabilization	11175345
Hgene	TSC1	GO:0051492	regulation of stress fiber assembly	10806479
Hgene	TSC1	GO:0051894	positive regulation of focal adhesion assembly	10806479
Hgene	TSC1	GO:0090630	activation of GTPase activity	10806479

Fusion gene breakpoints across TSC1 (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 DOLPP1 (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	HNSC	TCGA-CR-6487-01A	TSC1	chr9	135796750	-	DOLPP1	chr9	131848988	+
ChimerDB4	HNSC	TCGA-CR-6487	TSC1	chr9	135796749	-	DOLPP1	chr9	131848987	+
ChimerDB4	HNSC	TCGA-CR-6487	TSC1	chr9	135796750	-	DOLPP1	chr9	131848988	+

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)
ENST00000545250	TSC1	chr9	135796750	-	ENST00000372546	DOLPP1	chr9	131848988	+	2222	667	83	793	236
ENST00000545250	TSC1	chr9	135796750	-	ENST00000406974	DOLPP1	chr9	131848988	+	2222	667	83	793	236
ENST00000545250	TSC1	chr9	135796750	-	ENST00000540102	DOLPP1	chr9	131848988	+	2224	667	83	793	236
ENST00000440111	TSC1	chr9	135796750	-	ENST00000372546	DOLPP1	chr9	131848988	+	2375	820	83	946	287
ENST00000440111	TSC1	chr9	135796750	-	ENST00000406974	DOLPP1	chr9	131848988	+	2375	820	83	946	287
ENST00000440111	TSC1	chr9	135796750	-	ENST00000540102	DOLPP1	chr9	131848988	+	2377	820	83	946	287
ENST00000545250	TSC1	chr9	135796749	-	ENST00000372546	DOLPP1	chr9	131848987	+	2222	667	83	793	236
ENST00000545250	TSC1	chr9	135796749	-	ENST00000406974	DOLPP1	chr9	131848987	+	2222	667	83	793	236
ENST00000545250	TSC1	chr9	135796749	-	ENST00000540102	DOLPP1	chr9	131848987	+	2224	667	83	793	236
ENST00000440111	TSC1	chr9	135796749	-	ENST00000372546	DOLPP1	chr9	131848987	+	2375	820	83	946	287
ENST00000440111	TSC1	chr9	135796749	-	ENST00000406974	DOLPP1	chr9	131848987	+	2375	820	83	946	287
ENST00000440111	TSC1	chr9	135796749	-	ENST00000540102	DOLPP1	chr9	131848987	+	2377	820	83	946	287

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
ENST00000545250	ENST00000372546	TSC1	chr9	135796750	-	DOLPP1	chr9	131848988	+	0.007185606	0.9928145
ENST00000545250	ENST00000406974	TSC1	chr9	135796750	-	DOLPP1	chr9	131848988	+	0.007185606	0.9928145
ENST00000545250	ENST00000540102	TSC1	chr9	135796750	-	DOLPP1	chr9	131848988	+	0.007203769	0.99279624
ENST00000440111	ENST00000372546	TSC1	chr9	135796750	-	DOLPP1	chr9	131848988	+	0.004415066	0.99558496
ENST00000440111	ENST00000406974	TSC1	chr9	135796750	-	DOLPP1	chr9	131848988	+	0.004415066	0.99558496
ENST00000440111	ENST00000540102	TSC1	chr9	135796750	-	DOLPP1	chr9	131848988	+	0.004420869	0.99557906
ENST00000545250	ENST00000372546	TSC1	chr9	135796749	-	DOLPP1	chr9	131848987	+	0.007185606	0.9928145
ENST00000545250	ENST00000406974	TSC1	chr9	135796749	-	DOLPP1	chr9	131848987	+	0.007185606	0.9928145
ENST00000545250	ENST00000540102	TSC1	chr9	135796749	-	DOLPP1	chr9	131848987	+	0.007203769	0.99279624
ENST00000440111	ENST00000372546	TSC1	chr9	135796749	-	DOLPP1	chr9	131848987	+	0.004415066	0.99558496
ENST00000440111	ENST00000406974	TSC1	chr9	135796749	-	DOLPP1	chr9	131848987	+	0.004415066	0.99558496
ENST00000440111	ENST00000540102	TSC1	chr9	135796749	-	DOLPP1	chr9	131848987	+	0.004420869	0.99557906

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

>94474_94474_1_TSC1-DOLPP1_TSC1_chr9_135796749_ENST00000440111_DOLPP1_chr9_131848987_ENST00000372546_length(amino acids)=287AA_BP=245
MAQQANVGELLAMLDSPMLGVRDDVTAVFKENLNSDRGPMLVNTLVDYYLETSSQPALHILTTLQEPHDKHLLDRINEYVGKAATRLSIL
SLLGHVIRLQPSWKHKLSQAPLLPSLLKCLKMDTDVVVLTTGVLVLITMLPMIPQSGKQHLLDFFDIFGRLSSWCLKKPGHVAEVYLVHL
HASVYALFHRLYGMYPCNFVSFLRSHYSMKENLETFEEVVKPMMEHVRIHPELVTGSKDHELDPRRPVSEFFLIRDTSLIPNVLWFEYTV

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

>94474_94474_2_TSC1-DOLPP1_TSC1_chr9_135796749_ENST00000440111_DOLPP1_chr9_131848987_ENST00000406974_length(amino acids)=287AA_BP=245
MAQQANVGELLAMLDSPMLGVRDDVTAVFKENLNSDRGPMLVNTLVDYYLETSSQPALHILTTLQEPHDKHLLDRINEYVGKAATRLSIL
SLLGHVIRLQPSWKHKLSQAPLLPSLLKCLKMDTDVVVLTTGVLVLITMLPMIPQSGKQHLLDFFDIFGRLSSWCLKKPGHVAEVYLVHL
HASVYALFHRLYGMYPCNFVSFLRSHYSMKENLETFEEVVKPMMEHVRIHPELVTGSKDHELDPRRPVSEFFLIRDTSLIPNVLWFEYTV

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

>94474_94474_3_TSC1-DOLPP1_TSC1_chr9_135796749_ENST00000440111_DOLPP1_chr9_131848987_ENST00000540102_length(amino acids)=287AA_BP=245
MAQQANVGELLAMLDSPMLGVRDDVTAVFKENLNSDRGPMLVNTLVDYYLETSSQPALHILTTLQEPHDKHLLDRINEYVGKAATRLSIL
SLLGHVIRLQPSWKHKLSQAPLLPSLLKCLKMDTDVVVLTTGVLVLITMLPMIPQSGKQHLLDFFDIFGRLSSWCLKKPGHVAEVYLVHL
HASVYALFHRLYGMYPCNFVSFLRSHYSMKENLETFEEVVKPMMEHVRIHPELVTGSKDHELDPRRPVSEFFLIRDTSLIPNVLWFEYTV

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

>94474_94474_4_TSC1-DOLPP1_TSC1_chr9_135796749_ENST00000545250_DOLPP1_chr9_131848987_ENST00000372546_length(amino acids)=236AA_BP=194
MAQQANVGELLAMLDSPMLGVRDDVTAVFKENLNSDRGPMLVNTLVDYYLETSSQPALHILTTLQEPHDKMDTDVVVLTTGVLVLITMLP
MIPQSGKQHLLDFFDIFGRLSSWCLKKPGHVAEVYLVHLHASVYALFHRLYGMYPCNFVSFLRSHYSMKENLETFEEVVKPMMEHVRIHP

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

>94474_94474_5_TSC1-DOLPP1_TSC1_chr9_135796749_ENST00000545250_DOLPP1_chr9_131848987_ENST00000406974_length(amino acids)=236AA_BP=194
MAQQANVGELLAMLDSPMLGVRDDVTAVFKENLNSDRGPMLVNTLVDYYLETSSQPALHILTTLQEPHDKMDTDVVVLTTGVLVLITMLP
MIPQSGKQHLLDFFDIFGRLSSWCLKKPGHVAEVYLVHLHASVYALFHRLYGMYPCNFVSFLRSHYSMKENLETFEEVVKPMMEHVRIHP

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

>94474_94474_6_TSC1-DOLPP1_TSC1_chr9_135796749_ENST00000545250_DOLPP1_chr9_131848987_ENST00000540102_length(amino acids)=236AA_BP=194
MAQQANVGELLAMLDSPMLGVRDDVTAVFKENLNSDRGPMLVNTLVDYYLETSSQPALHILTTLQEPHDKMDTDVVVLTTGVLVLITMLP
MIPQSGKQHLLDFFDIFGRLSSWCLKKPGHVAEVYLVHLHASVYALFHRLYGMYPCNFVSFLRSHYSMKENLETFEEVVKPMMEHVRIHP

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

>94474_94474_7_TSC1-DOLPP1_TSC1_chr9_135796750_ENST00000440111_DOLPP1_chr9_131848988_ENST00000372546_length(amino acids)=287AA_BP=245
MAQQANVGELLAMLDSPMLGVRDDVTAVFKENLNSDRGPMLVNTLVDYYLETSSQPALHILTTLQEPHDKHLLDRINEYVGKAATRLSIL
SLLGHVIRLQPSWKHKLSQAPLLPSLLKCLKMDTDVVVLTTGVLVLITMLPMIPQSGKQHLLDFFDIFGRLSSWCLKKPGHVAEVYLVHL
HASVYALFHRLYGMYPCNFVSFLRSHYSMKENLETFEEVVKPMMEHVRIHPELVTGSKDHELDPRRPVSEFFLIRDTSLIPNVLWFEYTV

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

>94474_94474_8_TSC1-DOLPP1_TSC1_chr9_135796750_ENST00000440111_DOLPP1_chr9_131848988_ENST00000406974_length(amino acids)=287AA_BP=245
MAQQANVGELLAMLDSPMLGVRDDVTAVFKENLNSDRGPMLVNTLVDYYLETSSQPALHILTTLQEPHDKHLLDRINEYVGKAATRLSIL
SLLGHVIRLQPSWKHKLSQAPLLPSLLKCLKMDTDVVVLTTGVLVLITMLPMIPQSGKQHLLDFFDIFGRLSSWCLKKPGHVAEVYLVHL
HASVYALFHRLYGMYPCNFVSFLRSHYSMKENLETFEEVVKPMMEHVRIHPELVTGSKDHELDPRRPVSEFFLIRDTSLIPNVLWFEYTV

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

>94474_94474_9_TSC1-DOLPP1_TSC1_chr9_135796750_ENST00000440111_DOLPP1_chr9_131848988_ENST00000540102_length(amino acids)=287AA_BP=245
MAQQANVGELLAMLDSPMLGVRDDVTAVFKENLNSDRGPMLVNTLVDYYLETSSQPALHILTTLQEPHDKHLLDRINEYVGKAATRLSIL
SLLGHVIRLQPSWKHKLSQAPLLPSLLKCLKMDTDVVVLTTGVLVLITMLPMIPQSGKQHLLDFFDIFGRLSSWCLKKPGHVAEVYLVHL
HASVYALFHRLYGMYPCNFVSFLRSHYSMKENLETFEEVVKPMMEHVRIHPELVTGSKDHELDPRRPVSEFFLIRDTSLIPNVLWFEYTV

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

>94474_94474_10_TSC1-DOLPP1_TSC1_chr9_135796750_ENST00000545250_DOLPP1_chr9_131848988_ENST00000372546_length(amino acids)=236AA_BP=194
MAQQANVGELLAMLDSPMLGVRDDVTAVFKENLNSDRGPMLVNTLVDYYLETSSQPALHILTTLQEPHDKMDTDVVVLTTGVLVLITMLP
MIPQSGKQHLLDFFDIFGRLSSWCLKKPGHVAEVYLVHLHASVYALFHRLYGMYPCNFVSFLRSHYSMKENLETFEEVVKPMMEHVRIHP

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

>94474_94474_11_TSC1-DOLPP1_TSC1_chr9_135796750_ENST00000545250_DOLPP1_chr9_131848988_ENST00000406974_length(amino acids)=236AA_BP=194
MAQQANVGELLAMLDSPMLGVRDDVTAVFKENLNSDRGPMLVNTLVDYYLETSSQPALHILTTLQEPHDKMDTDVVVLTTGVLVLITMLP
MIPQSGKQHLLDFFDIFGRLSSWCLKKPGHVAEVYLVHLHASVYALFHRLYGMYPCNFVSFLRSHYSMKENLETFEEVVKPMMEHVRIHP

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

>94474_94474_12_TSC1-DOLPP1_TSC1_chr9_135796750_ENST00000545250_DOLPP1_chr9_131848988_ENST00000540102_length(amino acids)=236AA_BP=194
MAQQANVGELLAMLDSPMLGVRDDVTAVFKENLNSDRGPMLVNTLVDYYLETSSQPALHILTTLQEPHDKMDTDVVVLTTGVLVLITMLP
MIPQSGKQHLLDFFDIFGRLSSWCLKKPGHVAEVYLVHLHASVYALFHRLYGMYPCNFVSFLRSHYSMKENLETFEEVVKPMMEHVRIHP

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

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/chr9:135796750/chr9:131848988)
- 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
.	DOLPP1 Q86YN1
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 for efficient N-glycosylation. Necessary for maintaining optimal levels of dolichol-linked oligosaccharides. Hydrolyzes dolichyl pyrophosphate at a very high rate and dolichyl monophosphate at a much lower rate. Does not act on phosphatidate (By similarity). {ECO:0000250\|UniProtKB:Q9JMF7}.

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

DOLPP1

chr9:135796749

chr9:131848987

ENST00000406974

162_182

153.66666666666666

196.0

Transmembrane

Helical

Tgene

DOLPP1

chr9:135796750

chr9:131848988

ENST00000406974

162_182

153.66666666666666

196.0

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

TSC1

chr9:135796749

chr9:131848987

ENST00000298552

721_997

245.66666666666666

1165.0

Coiled coil

Ontology_term=ECO:0000255

Hgene

TSC1

chr9:135796749

chr9:131848987

ENST00000440111

721_997

245.66666666666666

1165.0

Coiled coil

Ontology_term=ECO:0000255

Hgene

TSC1

chr9:135796749

chr9:131848987

ENST00000545250

721_997

194.66666666666666

1114.0

Coiled coil

Ontology_term=ECO:0000255

Hgene

TSC1

chr9:135796750

chr9:131848988

ENST00000298552

721_997

245.66666666666666

1165.0

Coiled coil

Ontology_term=ECO:0000255

Hgene

TSC1

chr9:135796750

chr9:131848988

ENST00000440111

721_997

245.66666666666666

1165.0

Coiled coil

Ontology_term=ECO:0000255

Hgene

TSC1

chr9:135796750

chr9:131848988

ENST00000545250

721_997

194.66666666666666

1114.0

Coiled coil

Ontology_term=ECO:0000255

Hgene

TSC1

chr9:135796749

chr9:131848987

ENST00000298552

1034_1037

245.66666666666666

1165.0

Compositional bias

Note=Poly-Gly

Hgene

TSC1

chr9:135796749

chr9:131848987

ENST00000298552

1038_1043

245.66666666666666

1165.0

Compositional bias

Note=Poly-Ser

Hgene

TSC1

chr9:135796749

chr9:131848987

ENST00000440111

1034_1037

245.66666666666666

1165.0

Compositional bias

Note=Poly-Gly

Hgene

TSC1

chr9:135796749

chr9:131848987

ENST00000440111

1038_1043

245.66666666666666

1165.0

Compositional bias

Note=Poly-Ser

Hgene

TSC1

chr9:135796749

chr9:131848987

ENST00000545250

1034_1037

194.66666666666666

1114.0

Compositional bias

Note=Poly-Gly

Hgene

TSC1

chr9:135796749

chr9:131848987

ENST00000545250

1038_1043

194.66666666666666

1114.0

Compositional bias

Note=Poly-Ser

Hgene

TSC1

chr9:135796750

chr9:131848988

ENST00000298552

1034_1037

245.66666666666666

1165.0

Compositional bias

Note=Poly-Gly

Hgene

TSC1

chr9:135796750

chr9:131848988

ENST00000298552

1038_1043

245.66666666666666

1165.0

Compositional bias

Note=Poly-Ser

Hgene

TSC1

chr9:135796750

chr9:131848988

ENST00000440111

1034_1037

245.66666666666666

1165.0

Compositional bias

Note=Poly-Gly

Hgene

TSC1

chr9:135796750

chr9:131848988

ENST00000440111

1038_1043

245.66666666666666

1165.0

Compositional bias

Note=Poly-Ser

Hgene

TSC1

chr9:135796750

chr9:131848988

ENST00000545250

1034_1037

194.66666666666666

1114.0

Compositional bias

Note=Poly-Gly

Hgene

TSC1

chr9:135796750

chr9:131848988

ENST00000545250

1038_1043

194.66666666666666

1114.0

Compositional bias

Note=Poly-Ser

Tgene

DOLPP1

chr9:135796749

chr9:131848987

ENST00000372546

100_120

196.66666666666666

239.0

Transmembrane

Helical

Tgene

DOLPP1

chr9:135796749

chr9:131848987

ENST00000372546

130_150

196.66666666666666

239.0

Transmembrane

Helical

Tgene

DOLPP1

chr9:135796749

chr9:131848987

ENST00000372546

162_182

196.66666666666666

239.0

Transmembrane

Helical

Tgene

DOLPP1

chr9:135796749

chr9:131848987

ENST00000372546

33_53

196.66666666666666

239.0

Transmembrane

Helical

Tgene

DOLPP1

chr9:135796749

chr9:131848987

ENST00000406974

100_120

153.66666666666666

196.0

Transmembrane

Helical

Tgene

DOLPP1

chr9:135796749

chr9:131848987

ENST00000406974

130_150

153.66666666666666

196.0

Transmembrane

Helical

Tgene

DOLPP1

chr9:135796749

chr9:131848987

ENST00000406974

33_53

153.66666666666666

196.0

Transmembrane

Helical

Tgene

DOLPP1

chr9:135796750

chr9:131848988

ENST00000372546

100_120

196.66666666666666

239.0

Transmembrane

Helical

Tgene

DOLPP1

chr9:135796750

chr9:131848988

ENST00000372546

130_150

196.66666666666666

239.0

Transmembrane

Helical

Tgene

DOLPP1

chr9:135796750

chr9:131848988

ENST00000372546

162_182

196.66666666666666

239.0

Transmembrane

Helical

Tgene

DOLPP1

chr9:135796750

chr9:131848988

ENST00000372546

33_53

196.66666666666666

239.0

Transmembrane

Helical

Tgene

DOLPP1

chr9:135796750

chr9:131848988

ENST00000406974

100_120

153.66666666666666

196.0

Transmembrane

Helical

Tgene

DOLPP1

chr9:135796750

chr9:131848988

ENST00000406974

130_150

153.66666666666666

196.0

Transmembrane

Helical

Tgene

DOLPP1

chr9:135796750

chr9:131848988

ENST00000406974

33_53

153.66666666666666

196.0

Transmembrane

Helical

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 >>>505_TSC1_135796750_DOLPP1_131848988_ranked_0.pdb	TSC1	135796749	135796750	ENST00000540102	DOLPP1	chr9	131848988	+	MAQQANVGELLAMLDSPMLGVRDDVTAVFKENLNSDRGPMLVNTLVDYYLETSSQPALHILTTLQEPHDKHLLDRINEYVGKAATRLSIL SLLGHVIRLQPSWKHKLSQAPLLPSLLKCLKMDTDVVVLTTGVLVLITMLPMIPQSGKQHLLDFFDIFGRLSSWCLKKPGHVAEVYLVHL HASVYALFHRLYGMYPCNFVSFLRSHYSMKENLETFEEVVKPMMEHVRIHPELVTGSKDHELDPRRPVSEFFLIRDTSLIPNVLWFEYTV	287

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.

TSC1_pLDDT.png

DOLPP1_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
TSC1
DOLPP1

- 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 TSC1-DOLPP1

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

Hgene

Tgene

Drug

Source

PMID

Top

Related Diseases to TSC1-DOLPP1

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