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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:TBCD-ASPSCR1

Fusion Protein Summary

Fusion gene summary

Fusion partner gene information	Fusion gene name: TBCD-ASPSCR1
	FusionPDB ID: 89461
	FusionGDB2.0 ID: 89461
		Hgene	Tgene
	Gene symbol	TBCD	ASPSCR1
	Gene ID	6904	79058
	Gene name	tubulin folding cofactor D	ASPSCR1 tether for SLC2A4, UBX domain containing
	Synonyms	PEBAT\|SSD-1\|tfcD	ASPCR1\|ASPL\|ASPS\|RCC17\|TUG\|UBXD9\|UBXN9
	Cytomap	17q25.3	17q25.3
	Type of gene	protein-coding	protein-coding
	Description	tubulin-specific chaperone Dbeta-tubulin cofactor D	tether containing UBX domain for GLUT4ASPSCR1, UBX domain containing tether for SLC2A4UBX domain protein 9UBX domain-containing protein 9alveolar soft part sarcoma chromosomal region candidate gene 1 proteinalveolar soft part sarcoma chromosome regio
	Modification date	20200313	20200313
	UniProtAcc	.	Q9BZE9
Ensembl transtripts involved in fusion gene	ENST ids	ENST00000355528, ENST00000539345, ENST00000397466, ENST00000576691,	ENST00000581647, ENST00000582404, ENST00000306729, ENST00000306739, ENST00000580534,
Fusion gene scores for assessment (based on all fusion genes of FusionGDB 2.0)	* DoF score	20 X 23 X 13=5980	16 X 16 X 12=3072
	# samples	27	19
	** MAII score	log2(27/5980*10)=-4.46911417203464 possibly effective Gene in Pan-Cancer Fusion Genes (peGinPCFGs). DoF>8 and MAII<0	log2(19/3072*10)=-4.01510689239021 possibly effective Gene in Pan-Cancer Fusion Genes (peGinPCFGs). DoF>8 and MAII<0
Context (manual curation of fusion genes in FusionPDB)	PubMed: TBCD [Title/Abstract] AND ASPSCR1 [Title/Abstract] AND fusion [Title/Abstract]
Most frequent breakpoint (based on all fusion genes of FusionGDB 2.0)	TBCD(80730383)-ASPSCR1(79967362), # samples:2
Anticipated loss of major functional domain due to fusion event.	TBCD-ASPSCR1 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. TBCD-ASPSCR1 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. TBCD-ASPSCR1 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. TBCD-ASPSCR1 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	TBCD	GO:0006457	protein folding	20740604
Hgene	TBCD	GO:0007021	tubulin complex assembly	28158450
Hgene	TBCD	GO:0007023	post-chaperonin tubulin folding pathway	11847227
Hgene	TBCD	GO:0031115	negative regulation of microtubule polymerization	10831612\|20740604

Fusion gene breakpoints across TBCD (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 ASPSCR1 (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	LUSC	TCGA-39-5034-01A	TBCD	chr17	80730383	-	ASPSCR1	chr17	79967362	+
ChimerDB4	LUSC	TCGA-39-5034	TBCD	chr17	80730383	+	ASPSCR1	chr17	79967361	+
ChimerDB4	LUSC	TCGA-39-5034	TBCD	chr17	80730383	+	ASPSCR1	chr17	79967362	+

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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)
ENST00000355528	TBCD	chr17	80730383	+	ENST00000306729	ASPSCR1	chr17	79967361	+	1706	768	130	1623	497
ENST00000355528	TBCD	chr17	80730383	+	ENST00000306739	ASPSCR1	chr17	79967361	+	1426	768	130	1341	403
ENST00000355528	TBCD	chr17	80730383	+	ENST00000580534	ASPSCR1	chr17	79967361	+	1499	768	130	1416	428
ENST00000539345	TBCD	chr17	80730383	+	ENST00000306729	ASPSCR1	chr17	79967361	+	1612	674	36	1529	497
ENST00000539345	TBCD	chr17	80730383	+	ENST00000306739	ASPSCR1	chr17	79967361	+	1332	674	36	1247	403
ENST00000539345	TBCD	chr17	80730383	+	ENST00000580534	ASPSCR1	chr17	79967361	+	1405	674	36	1322	428
ENST00000355528	TBCD	chr17	80730383	+	ENST00000306729	ASPSCR1	chr17	79967362	+	1706	768	130	1623	497
ENST00000355528	TBCD	chr17	80730383	+	ENST00000306739	ASPSCR1	chr17	79967362	+	1426	768	130	1341	403
ENST00000355528	TBCD	chr17	80730383	+	ENST00000580534	ASPSCR1	chr17	79967362	+	1499	768	130	1416	428
ENST00000539345	TBCD	chr17	80730383	+	ENST00000306729	ASPSCR1	chr17	79967362	+	1612	674	36	1529	497
ENST00000539345	TBCD	chr17	80730383	+	ENST00000306739	ASPSCR1	chr17	79967362	+	1332	674	36	1247	403
ENST00000539345	TBCD	chr17	80730383	+	ENST00000580534	ASPSCR1	chr17	79967362	+	1405	674	36	1322	428

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
ENST00000355528	ENST00000306729	TBCD	chr17	80730383	+	ASPSCR1	chr17	79967361	+	0.010956978	0.98904306
ENST00000355528	ENST00000306739	TBCD	chr17	80730383	+	ASPSCR1	chr17	79967361	+	0.007788772	0.9922112
ENST00000355528	ENST00000580534	TBCD	chr17	80730383	+	ASPSCR1	chr17	79967361	+	0.007553694	0.99244636
ENST00000539345	ENST00000306729	TBCD	chr17	80730383	+	ASPSCR1	chr17	79967361	+	0.010061199	0.98993886
ENST00000539345	ENST00000306739	TBCD	chr17	80730383	+	ASPSCR1	chr17	79967361	+	0.007234499	0.9927654
ENST00000539345	ENST00000580534	TBCD	chr17	80730383	+	ASPSCR1	chr17	79967361	+	0.007263717	0.99273634
ENST00000355528	ENST00000306729	TBCD	chr17	80730383	+	ASPSCR1	chr17	79967362	+	0.010956978	0.98904306
ENST00000355528	ENST00000306739	TBCD	chr17	80730383	+	ASPSCR1	chr17	79967362	+	0.007788772	0.9922112
ENST00000355528	ENST00000580534	TBCD	chr17	80730383	+	ASPSCR1	chr17	79967362	+	0.007553694	0.99244636
ENST00000539345	ENST00000306729	TBCD	chr17	80730383	+	ASPSCR1	chr17	79967362	+	0.010061199	0.98993886
ENST00000539345	ENST00000306739	TBCD	chr17	80730383	+	ASPSCR1	chr17	79967362	+	0.007234499	0.9927654
ENST00000539345	ENST00000580534	TBCD	chr17	80730383	+	ASPSCR1	chr17	79967362	+	0.007263717	0.99273634

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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

>89461_89461_1_TBCD-ASPSCR1_TBCD_chr17_80730383_ENST00000355528_ASPSCR1_chr17_79967361_ENST00000306729_length(amino acids)=497AA_BP=212
MALSDEPAAGGPEEEAEDETLAFGAALEAFGESAETRALLGRLREVHGGGAEREVALERFRVIMDKYQEQPHLLDPHLEWMMNLLLDIVQ
DQTSPASLVHLAFKFLYIITKVRGYKTFLRLFPHEVADVEPVLDLVTIQNPKDHEAWETRYMLLLWLSVTCLIPFDFSRLDGNLLTQPGQ
ARMSIMDRILQIAESYLIVSDKARDAAAVLVSRKRLEEAPLVTKAFREAQIKEKLERYPKVALRVLFPDRYVLQGFFRPSETVGDLRDFV
RSHLGNPELSFYLFITPPKTVLDDHTQTLFQPQLGDRVAPFTLGPSLKRCLGPEQRTRLPVVGDGGDVDSGRLLFWGPSRGRASPSTGQP
PCHPVCRPSSPPSPRPSSGDPSRVKAGHKHVGTGRANLFPAALVHLGAEEPAGVYLEPGLLEHAISPSAADVLVARYMSRAAGSPSPLPA

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

>89461_89461_2_TBCD-ASPSCR1_TBCD_chr17_80730383_ENST00000355528_ASPSCR1_chr17_79967361_ENST00000306739_length(amino acids)=403AA_BP=212
MALSDEPAAGGPEEEAEDETLAFGAALEAFGESAETRALLGRLREVHGGGAEREVALERFRVIMDKYQEQPHLLDPHLEWMMNLLLDIVQ
DQTSPASLVHLAFKFLYIITKVRGYKTFLRLFPHEVADVEPVLDLVTIQNPKDHEAWETRYMLLLWLSVTCLIPFDFSRLDGNLLTQPGQ
ARMSIMDRILQIAESYLIVSDKARDAAAVLVSRKRLEEAPLVTKAFREAQIKEKLERYPKVALRVLFPDRYVLQGFFRPSETVGDLRDFV
RSHLGNPELSFYLFITPPKTVLDDHTQTLFQANLFPAALVHLGAEEPAGVYLEPGLLEHAISPSAADVLVARYMSRAAGSPSPLPAPDPA

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

>89461_89461_3_TBCD-ASPSCR1_TBCD_chr17_80730383_ENST00000355528_ASPSCR1_chr17_79967361_ENST00000580534_length(amino acids)=428AA_BP=212
MALSDEPAAGGPEEEAEDETLAFGAALEAFGESAETRALLGRLREVHGGGAEREVALERFRVIMDKYQEQPHLLDPHLEWMMNLLLDIVQ
DQTSPASLVHLAFKFLYIITKVRGYKTFLRLFPHEVADVEPVLDLVTIQNPKDHEAWETRYMLLLWLSVTCLIPFDFSRLDGNLLTQPGQ
ARMSIMDRILQIAESYLIVSDKARDAAAVLVSRKRLEEAPLVTKAFREAQIKEKLERYPKVALRVLFPDRYVLQGFFRPSETVGDLRDFV
RSHLGNPELSFYLCLSSFGRMDGRGPRCFLTRRCLLSSVITPPKTVLDDHTQTLFQANLFPAALVHLGAEEPAGVYLEPGLLEHAISPSA

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

>89461_89461_4_TBCD-ASPSCR1_TBCD_chr17_80730383_ENST00000355528_ASPSCR1_chr17_79967362_ENST00000306729_length(amino acids)=497AA_BP=212
MALSDEPAAGGPEEEAEDETLAFGAALEAFGESAETRALLGRLREVHGGGAEREVALERFRVIMDKYQEQPHLLDPHLEWMMNLLLDIVQ
DQTSPASLVHLAFKFLYIITKVRGYKTFLRLFPHEVADVEPVLDLVTIQNPKDHEAWETRYMLLLWLSVTCLIPFDFSRLDGNLLTQPGQ
ARMSIMDRILQIAESYLIVSDKARDAAAVLVSRKRLEEAPLVTKAFREAQIKEKLERYPKVALRVLFPDRYVLQGFFRPSETVGDLRDFV
RSHLGNPELSFYLFITPPKTVLDDHTQTLFQPQLGDRVAPFTLGPSLKRCLGPEQRTRLPVVGDGGDVDSGRLLFWGPSRGRASPSTGQP
PCHPVCRPSSPPSPRPSSGDPSRVKAGHKHVGTGRANLFPAALVHLGAEEPAGVYLEPGLLEHAISPSAADVLVARYMSRAAGSPSPLPA

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

>89461_89461_5_TBCD-ASPSCR1_TBCD_chr17_80730383_ENST00000355528_ASPSCR1_chr17_79967362_ENST00000306739_length(amino acids)=403AA_BP=212
MALSDEPAAGGPEEEAEDETLAFGAALEAFGESAETRALLGRLREVHGGGAEREVALERFRVIMDKYQEQPHLLDPHLEWMMNLLLDIVQ
DQTSPASLVHLAFKFLYIITKVRGYKTFLRLFPHEVADVEPVLDLVTIQNPKDHEAWETRYMLLLWLSVTCLIPFDFSRLDGNLLTQPGQ
ARMSIMDRILQIAESYLIVSDKARDAAAVLVSRKRLEEAPLVTKAFREAQIKEKLERYPKVALRVLFPDRYVLQGFFRPSETVGDLRDFV
RSHLGNPELSFYLFITPPKTVLDDHTQTLFQANLFPAALVHLGAEEPAGVYLEPGLLEHAISPSAADVLVARYMSRAAGSPSPLPAPDPA

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

>89461_89461_6_TBCD-ASPSCR1_TBCD_chr17_80730383_ENST00000355528_ASPSCR1_chr17_79967362_ENST00000580534_length(amino acids)=428AA_BP=212
MALSDEPAAGGPEEEAEDETLAFGAALEAFGESAETRALLGRLREVHGGGAEREVALERFRVIMDKYQEQPHLLDPHLEWMMNLLLDIVQ
DQTSPASLVHLAFKFLYIITKVRGYKTFLRLFPHEVADVEPVLDLVTIQNPKDHEAWETRYMLLLWLSVTCLIPFDFSRLDGNLLTQPGQ
ARMSIMDRILQIAESYLIVSDKARDAAAVLVSRKRLEEAPLVTKAFREAQIKEKLERYPKVALRVLFPDRYVLQGFFRPSETVGDLRDFV
RSHLGNPELSFYLCLSSFGRMDGRGPRCFLTRRCLLSSVITPPKTVLDDHTQTLFQANLFPAALVHLGAEEPAGVYLEPGLLEHAISPSA

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

>89461_89461_7_TBCD-ASPSCR1_TBCD_chr17_80730383_ENST00000539345_ASPSCR1_chr17_79967361_ENST00000306729_length(amino acids)=497AA_BP=212
MALSDEPAAGGPEEEAEDETLAFGAALEAFGESAETRALLGRLREVHGGGAEREVALERFRVIMDKYQEQPHLLDPHLEWMMNLLLDIVQ
DQTSPASLVHLAFKFLYIITKVRGYKTFLRLFPHEVADVEPVLDLVTIQNPKDHEAWETRYMLLLWLSVTCLIPFDFSRLDGNLLTQPGQ
ARMSIMDRILQIAESYLIVSDKARDAAAVLVSRKRLEEAPLVTKAFREAQIKEKLERYPKVALRVLFPDRYVLQGFFRPSETVGDLRDFV
RSHLGNPELSFYLFITPPKTVLDDHTQTLFQPQLGDRVAPFTLGPSLKRCLGPEQRTRLPVVGDGGDVDSGRLLFWGPSRGRASPSTGQP
PCHPVCRPSSPPSPRPSSGDPSRVKAGHKHVGTGRANLFPAALVHLGAEEPAGVYLEPGLLEHAISPSAADVLVARYMSRAAGSPSPLPA

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

>89461_89461_8_TBCD-ASPSCR1_TBCD_chr17_80730383_ENST00000539345_ASPSCR1_chr17_79967361_ENST00000306739_length(amino acids)=403AA_BP=212
MALSDEPAAGGPEEEAEDETLAFGAALEAFGESAETRALLGRLREVHGGGAEREVALERFRVIMDKYQEQPHLLDPHLEWMMNLLLDIVQ
DQTSPASLVHLAFKFLYIITKVRGYKTFLRLFPHEVADVEPVLDLVTIQNPKDHEAWETRYMLLLWLSVTCLIPFDFSRLDGNLLTQPGQ
ARMSIMDRILQIAESYLIVSDKARDAAAVLVSRKRLEEAPLVTKAFREAQIKEKLERYPKVALRVLFPDRYVLQGFFRPSETVGDLRDFV
RSHLGNPELSFYLFITPPKTVLDDHTQTLFQANLFPAALVHLGAEEPAGVYLEPGLLEHAISPSAADVLVARYMSRAAGSPSPLPAPDPA

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

>89461_89461_9_TBCD-ASPSCR1_TBCD_chr17_80730383_ENST00000539345_ASPSCR1_chr17_79967361_ENST00000580534_length(amino acids)=428AA_BP=212
MALSDEPAAGGPEEEAEDETLAFGAALEAFGESAETRALLGRLREVHGGGAEREVALERFRVIMDKYQEQPHLLDPHLEWMMNLLLDIVQ
DQTSPASLVHLAFKFLYIITKVRGYKTFLRLFPHEVADVEPVLDLVTIQNPKDHEAWETRYMLLLWLSVTCLIPFDFSRLDGNLLTQPGQ
ARMSIMDRILQIAESYLIVSDKARDAAAVLVSRKRLEEAPLVTKAFREAQIKEKLERYPKVALRVLFPDRYVLQGFFRPSETVGDLRDFV
RSHLGNPELSFYLCLSSFGRMDGRGPRCFLTRRCLLSSVITPPKTVLDDHTQTLFQANLFPAALVHLGAEEPAGVYLEPGLLEHAISPSA

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

>89461_89461_10_TBCD-ASPSCR1_TBCD_chr17_80730383_ENST00000539345_ASPSCR1_chr17_79967362_ENST00000306729_length(amino acids)=497AA_BP=212
MALSDEPAAGGPEEEAEDETLAFGAALEAFGESAETRALLGRLREVHGGGAEREVALERFRVIMDKYQEQPHLLDPHLEWMMNLLLDIVQ
DQTSPASLVHLAFKFLYIITKVRGYKTFLRLFPHEVADVEPVLDLVTIQNPKDHEAWETRYMLLLWLSVTCLIPFDFSRLDGNLLTQPGQ
ARMSIMDRILQIAESYLIVSDKARDAAAVLVSRKRLEEAPLVTKAFREAQIKEKLERYPKVALRVLFPDRYVLQGFFRPSETVGDLRDFV
RSHLGNPELSFYLFITPPKTVLDDHTQTLFQPQLGDRVAPFTLGPSLKRCLGPEQRTRLPVVGDGGDVDSGRLLFWGPSRGRASPSTGQP
PCHPVCRPSSPPSPRPSSGDPSRVKAGHKHVGTGRANLFPAALVHLGAEEPAGVYLEPGLLEHAISPSAADVLVARYMSRAAGSPSPLPA

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

>89461_89461_11_TBCD-ASPSCR1_TBCD_chr17_80730383_ENST00000539345_ASPSCR1_chr17_79967362_ENST00000306739_length(amino acids)=403AA_BP=212
MALSDEPAAGGPEEEAEDETLAFGAALEAFGESAETRALLGRLREVHGGGAEREVALERFRVIMDKYQEQPHLLDPHLEWMMNLLLDIVQ
DQTSPASLVHLAFKFLYIITKVRGYKTFLRLFPHEVADVEPVLDLVTIQNPKDHEAWETRYMLLLWLSVTCLIPFDFSRLDGNLLTQPGQ
ARMSIMDRILQIAESYLIVSDKARDAAAVLVSRKRLEEAPLVTKAFREAQIKEKLERYPKVALRVLFPDRYVLQGFFRPSETVGDLRDFV
RSHLGNPELSFYLFITPPKTVLDDHTQTLFQANLFPAALVHLGAEEPAGVYLEPGLLEHAISPSAADVLVARYMSRAAGSPSPLPAPDPA

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

>89461_89461_12_TBCD-ASPSCR1_TBCD_chr17_80730383_ENST00000539345_ASPSCR1_chr17_79967362_ENST00000580534_length(amino acids)=428AA_BP=212
MALSDEPAAGGPEEEAEDETLAFGAALEAFGESAETRALLGRLREVHGGGAEREVALERFRVIMDKYQEQPHLLDPHLEWMMNLLLDIVQ
DQTSPASLVHLAFKFLYIITKVRGYKTFLRLFPHEVADVEPVLDLVTIQNPKDHEAWETRYMLLLWLSVTCLIPFDFSRLDGNLLTQPGQ
ARMSIMDRILQIAESYLIVSDKARDAAAVLVSRKRLEEAPLVTKAFREAQIKEKLERYPKVALRVLFPDRYVLQGFFRPSETVGDLRDFV
RSHLGNPELSFYLCLSSFGRMDGRGPRCFLTRRCLLSSVITPPKTVLDDHTQTLFQANLFPAALVHLGAEEPAGVYLEPGLLEHAISPSA

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

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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/chr17:80730383/chr17:79967362)
- 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
.	ASPSCR1 Q9BZE9
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: Tethering protein that sequesters GLUT4-containing vesicles in the cytoplasm in the absence of insulin. Modulates the amount of GLUT4 that is available at the cell surface (By similarity). Enhances VCP methylation catalyzed by VCPKMT. {ECO:0000250, ECO:0000269\|PubMed:23349634}.

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

ASPSCR1

chr17:80730383

chr17:79967361

ENST00000306729

386_462

362.6666666666667

648.0

Domain

UBX

Tgene

ASPSCR1

chr17:80730383

chr17:79967361

ENST00000306739

386_462

362.6666666666667

554.0

Domain

UBX

Tgene

ASPSCR1

chr17:80730383

chr17:79967361

ENST00000580534

386_462

285.6666666666667

502.0

Domain

UBX

Tgene

ASPSCR1

chr17:80730383

chr17:79967362

ENST00000306729

386_462

362.6666666666667

648.0

Domain

UBX

Tgene

ASPSCR1

chr17:80730383

chr17:79967362

ENST00000306739

386_462

362.6666666666667

554.0

Domain

UBX

Tgene

ASPSCR1

chr17:80730383

chr17:79967362

ENST00000580534

386_462

285.6666666666667

502.0

Domain

UBX

- 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

TBCD

chr17:80730383

chr17:79967361

ENST00000355528

361_399

212.66666666666666

1193.0

Repeat

Note=HEAT 1

Hgene

TBCD

chr17:80730383

chr17:79967361

ENST00000355528

557_594

212.66666666666666

1193.0

Repeat

Note=HEAT 2

Hgene

TBCD

chr17:80730383

chr17:79967361

ENST00000355528

596_632

212.66666666666666

1193.0

Repeat

Note=HEAT 3

Hgene

TBCD

chr17:80730383

chr17:79967362

ENST00000355528

361_399

212.66666666666666

1193.0

Repeat

Note=HEAT 1

Hgene

TBCD

chr17:80730383

chr17:79967362

ENST00000355528

557_594

212.66666666666666

1193.0

Repeat

Note=HEAT 2

Hgene

TBCD

chr17:80730383

chr17:79967362

ENST00000355528

596_632

212.66666666666666

1193.0

Repeat

Note=HEAT 3

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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)
PDB file >>>1058_TBCD_80730383_ASPSCR1_79967362_1058_TBCD_80730383_ASPSCR1_79967362_ranked_0.pdb	TBCD	80730383	80730383	ENST00000580534	ASPSCR1	chr17	79967362	+	MALSDEPAAGGPEEEAEDETLAFGAALEAFGESAETRALLGRLREVHGGGAEREVALERFRVIMDKYQEQPHLLDPHLEWMMNLLLDIVQ DQTSPASLVHLAFKFLYIITKVRGYKTFLRLFPHEVADVEPVLDLVTIQNPKDHEAWETRYMLLLWLSVTCLIPFDFSRLDGNLLTQPGQ ARMSIMDRILQIAESYLIVSDKARDAAAVLVSRKRLEEAPLVTKAFREAQIKEKLERYPKVALRVLFPDRYVLQGFFRPSETVGDLRDFV RSHLGNPELSFYLFITPPKTVLDDHTQTLFQPQLGDRVAPFTLGPSLKRCLGPEQRTRLPVVGDGGDVDSGRLLFWGPSRGRASPSTGQP PCHPVCRPSSPPSPRPSSGDPSRVKAGHKHVGTGRANLFPAALVHLGAEEPAGVYLEPGLLEHAISPSAADVLVARYMSRAAGSPSPLPA	497

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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.

TBCD_pLDDT.png

ASPSCR1_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

ASPSCR1

UBC, VCP, ALPP, NPLOC4, UFD1L, VCPIP1, PHAX, NEDD4, HHV8GK18_gp81, UBXN6, APP, VCPKMT, DCAF11, KRT31, TCF4, TACC3, ADAMTSL4, KRTAP10-8, NOTCH2NL, EZH2, GAPDH, GLUL, UBXN2B, HPD, MAT1A, NSF, AGL, BANF1, DERA, YTHDF1, YTHDF2, NTRK1, UBXN2A, UBXN7, NSFL1C, UBXN10, FAF1, KCTD3, FAM136A, SHKBP1, HAO2, ASNA1, HK1, HACL1, SERPINB2, GLTP, FADS1, HNRNPL, CUL1, USP25, CLK2, KRTAP1-1, INCA1, PINK1, PPIB, DDX58, GOPC, PREX1, EFTUD2, XAF1, NDOR1, URGCP, FTL, SEPHS1, MAN2C1, PIPSL, SLC12A9,

Protein-protein interactors based on sequence similarity (STRING)

Gene	STRING network
TBCD
ASPSCR1

- 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	ASPSCR1	chr17:80730383	chr17:79967361	ENST00000306729		7	17	317_380	362.6666666666667	648.0	GLUT4
Tgene	ASPSCR1	chr17:80730383	chr17:79967361	ENST00000306739		7	16	317_380	362.6666666666667	554.0	GLUT4
Tgene	ASPSCR1	chr17:80730383	chr17:79967362	ENST00000306729		7	17	317_380	362.6666666666667	648.0	GLUT4
Tgene	ASPSCR1	chr17:80730383	chr17:79967362	ENST00000306739		7	16	317_380	362.6666666666667	554.0	GLUT4

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Related Drugs to TBCD-ASPSCR1

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 TBCD-ASPSCR1

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
Tgene	ASPSCR1	C4518356	MiT family translocation renal cell carcinoma	3	ORPHANET
Tgene	ASPSCR1	C0206657	Alveolar Soft Part Sarcoma	1	CTD_human;ORPHANET