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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:REPS2-SMARCA1

Fusion Protein Summary

Fusion gene summary

Fusion partner gene information	Fusion gene name: REPS2-SMARCA1
	FusionPDB ID: 73483
	FusionGDB2.0 ID: 73483
		Hgene	Tgene
	Gene symbol	REPS2	SMARCA1
	Gene ID	9185	6594
	Gene name	RALBP1 associated Eps domain containing 2	SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily a, member 1
	Synonyms	POB1	ISWI\|NURF140\|SNF2L\|SNF2L1\|SNF2LB\|SNF2LT\|SWI\|SWI2\|hSNF2L
	Cytomap	Xp22.2	Xq25-q26.1
	Type of gene	protein-coding	protein-coding
	Description	ralBP1-associated Eps domain-containing protein 2RALBP1-interacting protein 2partner of Ral-binding protein 1partner of RalBP1	probable global transcription activator SNF2L1ATP-dependent helicase SMARCA1SNF2-like 1global transcription activator homologous sequencenucleosome-remodeling factor subunit SNF2Lsucrose nonfermenting 2-like protein 1
	Modification date	20200313	20200320
	UniProtAcc	.	.
Ensembl transtripts involved in fusion gene	ENST ids	ENST00000303843, ENST00000357277, ENST00000380064, ENST00000469714,	ENST00000478420, ENST00000371121, ENST00000371122, ENST00000371123,
Fusion gene scores for assessment (based on all fusion genes of FusionGDB 2.0)	* DoF score	13 X 9 X 10=1170	6 X 6 X 2=72
	# samples	19	6
	** MAII score	log2(19/1170*10)=-2.62243720613982 possibly effective Gene in Pan-Cancer Fusion Genes (peGinPCFGs). DoF>8 and MAII<0	log2(6/72*10)=-0.263034405833794 possibly effective Gene in Pan-Cancer Fusion Genes (peGinPCFGs). DoF>8 and MAII<0
Context (manual curation of fusion genes in FusionPDB)	PubMed: REPS2 [Title/Abstract] AND SMARCA1 [Title/Abstract] AND fusion [Title/Abstract]
Most frequent breakpoint (based on all fusion genes of FusionGDB 2.0)	REPS2(17047746)-SMARCA1(128615162), # samples:3
Anticipated loss of major functional domain due to fusion event.	REPS2-SMARCA1 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. REPS2-SMARCA1 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. REPS2-SMARCA1 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. REPS2-SMARCA1 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
Tgene	SMARCA1	GO:0006338	chromatin remodeling	14609955
Tgene	SMARCA1	GO:0043044	ATP-dependent chromatin remodeling	15640247

Fusion gene breakpoints across REPS2 (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 SMARCA1 (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	PRAD	TCGA-HC-7232-01A	REPS2	chrX	17047746	-	SMARCA1	chrX	128615162	-
ChimerDB4	PRAD	TCGA-HC-7232-01A	REPS2	chrX	17047746	+	SMARCA1	chrX	128615162	-
ChimerDB4	PRAD	TCGA-HC-7232	REPS2	chrX	17047746	+	SMARCA1	chrX	128615162	-

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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)
ENST00000357277	REPS2	chrX	17047746	+	ENST00000371121	SMARCA1	chrX	128615162	-	2696	942	171	1889	572
ENST00000357277	REPS2	chrX	17047746	+	ENST00000371122	SMARCA1	chrX	128615162	-	2694	942	171	1889	572
ENST00000357277	REPS2	chrX	17047746	+	ENST00000371123	SMARCA1	chrX	128615162	-	2626	942	171	1889	572
ENST00000303843	REPS2	chrX	17047746	+	ENST00000371121	SMARCA1	chrX	128615162	-	2522	768	0	1715	571
ENST00000303843	REPS2	chrX	17047746	+	ENST00000371122	SMARCA1	chrX	128615162	-	2520	768	0	1715	571
ENST00000303843	REPS2	chrX	17047746	+	ENST00000371123	SMARCA1	chrX	128615162	-	2452	768	0	1715	571
ENST00000380064	REPS2	chrX	17047746	+	ENST00000371121	SMARCA1	chrX	128615162	-	2307	553	67	1500	477
ENST00000380064	REPS2	chrX	17047746	+	ENST00000371122	SMARCA1	chrX	128615162	-	2305	553	67	1500	477
ENST00000380064	REPS2	chrX	17047746	+	ENST00000371123	SMARCA1	chrX	128615162	-	2237	553	67	1500	477

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
ENST00000357277	ENST00000371121	REPS2	chrX	17047746	+	SMARCA1	chrX	128615162	-	0.000586158	0.99941385
ENST00000357277	ENST00000371122	REPS2	chrX	17047746	+	SMARCA1	chrX	128615162	-	0.000587918	0.99941206
ENST00000357277	ENST00000371123	REPS2	chrX	17047746	+	SMARCA1	chrX	128615162	-	0.000689919	0.99931014
ENST00000303843	ENST00000371121	REPS2	chrX	17047746	+	SMARCA1	chrX	128615162	-	0.000463918	0.99953616
ENST00000303843	ENST00000371122	REPS2	chrX	17047746	+	SMARCA1	chrX	128615162	-	0.000464889	0.9995351
ENST00000303843	ENST00000371123	REPS2	chrX	17047746	+	SMARCA1	chrX	128615162	-	0.000542179	0.9994578
ENST00000380064	ENST00000371121	REPS2	chrX	17047746	+	SMARCA1	chrX	128615162	-	0.000251605	0.9997484
ENST00000380064	ENST00000371122	REPS2	chrX	17047746	+	SMARCA1	chrX	128615162	-	0.000251819	0.9997482
ENST00000380064	ENST00000371123	REPS2	chrX	17047746	+	SMARCA1	chrX	128615162	-	0.000284379	0.9997156

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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

>73483_73483_1_REPS2-SMARCA1_REPS2_chrX_17047746_ENST00000303843_SMARCA1_chrX_128615162_ENST00000371121_length(amino acids)=571AA_BP=256
MEAAAAAAAAAAAAAAAGGGCGSGPPPLLLSEGEQQCYSELFARCAGAAGGGPGSGPPEAARVAPGTATAAAGPVADLFRASQLPAETLH
QITELCGAKRVGYFGPTQFYIALKLIAAAQSGLPVRIESIKCELPLPRFMMSKNDGEIRFGNPAELHGTKVQIPYLTTEKNSFKRMDDED
KQETQSPTMSPLASPPSSPPHYQRVPLSHGYSKLRSSAEQMHPAPYEARQPLVQPEGSSSGGPGTKPLRHQASLIRLGMVEWIEPPKRER
KANYAVDAYFREALRVSEPKIPKAPRPPKQPNVQDFQFFPPRLFELLEKEILYYRKTIGYKVPRNPDIPNPALAQREEQKKIDGAEPLTP
EETEEKEKLLTQGFTNWTKRDFNQFIKANEKYGRDDIDNIAREVEGKSPEEVMEYSAVFWERCNELQDIEKIMAQIERGEARIQRRISIK
KALDAKIARYKAPFHQLRIQYGTSKGKNYTEEEDRFLICMLHKMGFDRENVYEELRQCVRNAPQFRFDWFIKSRTAMEFQRRCNTLISLI

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

>73483_73483_2_REPS2-SMARCA1_REPS2_chrX_17047746_ENST00000303843_SMARCA1_chrX_128615162_ENST00000371122_length(amino acids)=571AA_BP=256
MEAAAAAAAAAAAAAAAGGGCGSGPPPLLLSEGEQQCYSELFARCAGAAGGGPGSGPPEAARVAPGTATAAAGPVADLFRASQLPAETLH
QITELCGAKRVGYFGPTQFYIALKLIAAAQSGLPVRIESIKCELPLPRFMMSKNDGEIRFGNPAELHGTKVQIPYLTTEKNSFKRMDDED
KQETQSPTMSPLASPPSSPPHYQRVPLSHGYSKLRSSAEQMHPAPYEARQPLVQPEGSSSGGPGTKPLRHQASLIRLGMVEWIEPPKRER
KANYAVDAYFREALRVSEPKIPKAPRPPKQPNVQDFQFFPPRLFELLEKEILYYRKTIGYKVPRNPDIPNPALAQREEQKKIDGAEPLTP
EETEEKEKLLTQGFTNWTKRDFNQFIKANEKYGRDDIDNIAREVEGKSPEEVMEYSAVFWERCNELQDIEKIMAQIERGEARIQRRISIK
KALDAKIARYKAPFHQLRIQYGTSKGKNYTEEEDRFLICMLHKMGFDRENVYEELRQCVRNAPQFRFDWFIKSRTAMEFQRRCNTLISLI

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

>73483_73483_3_REPS2-SMARCA1_REPS2_chrX_17047746_ENST00000303843_SMARCA1_chrX_128615162_ENST00000371123_length(amino acids)=571AA_BP=256
MEAAAAAAAAAAAAAAAGGGCGSGPPPLLLSEGEQQCYSELFARCAGAAGGGPGSGPPEAARVAPGTATAAAGPVADLFRASQLPAETLH
QITELCGAKRVGYFGPTQFYIALKLIAAAQSGLPVRIESIKCELPLPRFMMSKNDGEIRFGNPAELHGTKVQIPYLTTEKNSFKRMDDED
KQETQSPTMSPLASPPSSPPHYQRVPLSHGYSKLRSSAEQMHPAPYEARQPLVQPEGSSSGGPGTKPLRHQASLIRLGMVEWIEPPKRER
KANYAVDAYFREALRVSEPKIPKAPRPPKQPNVQDFQFFPPRLFELLEKEILYYRKTIGYKVPRNPDIPNPALAQREEQKKIDGAEPLTP
EETEEKEKLLTQGFTNWTKRDFNQFIKANEKYGRDDIDNIAREVEGKSPEEVMEYSAVFWERCNELQDIEKIMAQIERGEARIQRRISIK
KALDAKIARYKAPFHQLRIQYGTSKGKNYTEEEDRFLICMLHKMGFDRENVYEELRQCVRNAPQFRFDWFIKSRTAMEFQRRCNTLISLI

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

>73483_73483_4_REPS2-SMARCA1_REPS2_chrX_17047746_ENST00000357277_SMARCA1_chrX_128615162_ENST00000371121_length(amino acids)=572AA_BP=257
MEAAAAAAAAAAAAAAAGGGCGSGPPPLLLSEGEQQCYSELFARCAGAAGGGPGSGPPEAARVAPGTATAAAGPVADLFRASQLPAETLH
QITELCGAKRVGYFGPTQFYIALKLIAAAQSGLPVRIESIKCELPLPRFMMSKNDGEIRFGNPAELHGTKVQIPYLTTEKNSFKRMDDED
KQQETQSPTMSPLASPPSSPPHYQRVPLSHGYSKLRSSAEQMHPAPYEARQPLVQPEGSSSGGPGTKPLRHQASLIRLGMVEWIEPPKRE
RKANYAVDAYFREALRVSEPKIPKAPRPPKQPNVQDFQFFPPRLFELLEKEILYYRKTIGYKVPRNPDIPNPALAQREEQKKIDGAEPLT
PEETEEKEKLLTQGFTNWTKRDFNQFIKANEKYGRDDIDNIAREVEGKSPEEVMEYSAVFWERCNELQDIEKIMAQIERGEARIQRRISI
KKALDAKIARYKAPFHQLRIQYGTSKGKNYTEEEDRFLICMLHKMGFDRENVYEELRQCVRNAPQFRFDWFIKSRTAMEFQRRCNTLISL

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

>73483_73483_5_REPS2-SMARCA1_REPS2_chrX_17047746_ENST00000357277_SMARCA1_chrX_128615162_ENST00000371122_length(amino acids)=572AA_BP=257
MEAAAAAAAAAAAAAAAGGGCGSGPPPLLLSEGEQQCYSELFARCAGAAGGGPGSGPPEAARVAPGTATAAAGPVADLFRASQLPAETLH
QITELCGAKRVGYFGPTQFYIALKLIAAAQSGLPVRIESIKCELPLPRFMMSKNDGEIRFGNPAELHGTKVQIPYLTTEKNSFKRMDDED
KQQETQSPTMSPLASPPSSPPHYQRVPLSHGYSKLRSSAEQMHPAPYEARQPLVQPEGSSSGGPGTKPLRHQASLIRLGMVEWIEPPKRE
RKANYAVDAYFREALRVSEPKIPKAPRPPKQPNVQDFQFFPPRLFELLEKEILYYRKTIGYKVPRNPDIPNPALAQREEQKKIDGAEPLT
PEETEEKEKLLTQGFTNWTKRDFNQFIKANEKYGRDDIDNIAREVEGKSPEEVMEYSAVFWERCNELQDIEKIMAQIERGEARIQRRISI
KKALDAKIARYKAPFHQLRIQYGTSKGKNYTEEEDRFLICMLHKMGFDRENVYEELRQCVRNAPQFRFDWFIKSRTAMEFQRRCNTLISL

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

>73483_73483_6_REPS2-SMARCA1_REPS2_chrX_17047746_ENST00000357277_SMARCA1_chrX_128615162_ENST00000371123_length(amino acids)=572AA_BP=257
MEAAAAAAAAAAAAAAAGGGCGSGPPPLLLSEGEQQCYSELFARCAGAAGGGPGSGPPEAARVAPGTATAAAGPVADLFRASQLPAETLH
QITELCGAKRVGYFGPTQFYIALKLIAAAQSGLPVRIESIKCELPLPRFMMSKNDGEIRFGNPAELHGTKVQIPYLTTEKNSFKRMDDED
KQQETQSPTMSPLASPPSSPPHYQRVPLSHGYSKLRSSAEQMHPAPYEARQPLVQPEGSSSGGPGTKPLRHQASLIRLGMVEWIEPPKRE
RKANYAVDAYFREALRVSEPKIPKAPRPPKQPNVQDFQFFPPRLFELLEKEILYYRKTIGYKVPRNPDIPNPALAQREEQKKIDGAEPLT
PEETEEKEKLLTQGFTNWTKRDFNQFIKANEKYGRDDIDNIAREVEGKSPEEVMEYSAVFWERCNELQDIEKIMAQIERGEARIQRRISI
KKALDAKIARYKAPFHQLRIQYGTSKGKNYTEEEDRFLICMLHKMGFDRENVYEELRQCVRNAPQFRFDWFIKSRTAMEFQRRCNTLISL

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

>73483_73483_7_REPS2-SMARCA1_REPS2_chrX_17047746_ENST00000380064_SMARCA1_chrX_128615162_ENST00000371121_length(amino acids)=477AA_BP=162
MCGAKRVGYFGPTQFYIALKLIAAAQSGLPVRIESIKCELPLPRFMMSKNDGEIRFGNPAELHGTKVQIPYLTTEKNSFKRMDDEDKQET
QSPTMSPLASPPSSPPHYQRVPLSHGYSKLRSSAEQMHPAPYEARQPLVQPEGSSSGGPGTKPLRHQASLIRLGMVEWIEPPKRERKANY
AVDAYFREALRVSEPKIPKAPRPPKQPNVQDFQFFPPRLFELLEKEILYYRKTIGYKVPRNPDIPNPALAQREEQKKIDGAEPLTPEETE
EKEKLLTQGFTNWTKRDFNQFIKANEKYGRDDIDNIAREVEGKSPEEVMEYSAVFWERCNELQDIEKIMAQIERGEARIQRRISIKKALD
AKIARYKAPFHQLRIQYGTSKGKNYTEEEDRFLICMLHKMGFDRENVYEELRQCVRNAPQFRFDWFIKSRTAMEFQRRCNTLISLIEKEN

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

>73483_73483_8_REPS2-SMARCA1_REPS2_chrX_17047746_ENST00000380064_SMARCA1_chrX_128615162_ENST00000371122_length(amino acids)=477AA_BP=162
MCGAKRVGYFGPTQFYIALKLIAAAQSGLPVRIESIKCELPLPRFMMSKNDGEIRFGNPAELHGTKVQIPYLTTEKNSFKRMDDEDKQET
QSPTMSPLASPPSSPPHYQRVPLSHGYSKLRSSAEQMHPAPYEARQPLVQPEGSSSGGPGTKPLRHQASLIRLGMVEWIEPPKRERKANY
AVDAYFREALRVSEPKIPKAPRPPKQPNVQDFQFFPPRLFELLEKEILYYRKTIGYKVPRNPDIPNPALAQREEQKKIDGAEPLTPEETE
EKEKLLTQGFTNWTKRDFNQFIKANEKYGRDDIDNIAREVEGKSPEEVMEYSAVFWERCNELQDIEKIMAQIERGEARIQRRISIKKALD
AKIARYKAPFHQLRIQYGTSKGKNYTEEEDRFLICMLHKMGFDRENVYEELRQCVRNAPQFRFDWFIKSRTAMEFQRRCNTLISLIEKEN

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

>73483_73483_9_REPS2-SMARCA1_REPS2_chrX_17047746_ENST00000380064_SMARCA1_chrX_128615162_ENST00000371123_length(amino acids)=477AA_BP=162
MCGAKRVGYFGPTQFYIALKLIAAAQSGLPVRIESIKCELPLPRFMMSKNDGEIRFGNPAELHGTKVQIPYLTTEKNSFKRMDDEDKQET
QSPTMSPLASPPSSPPHYQRVPLSHGYSKLRSSAEQMHPAPYEARQPLVQPEGSSSGGPGTKPLRHQASLIRLGMVEWIEPPKRERKANY
AVDAYFREALRVSEPKIPKAPRPPKQPNVQDFQFFPPRLFELLEKEILYYRKTIGYKVPRNPDIPNPALAQREEQKKIDGAEPLTPEETE
EKEKLLTQGFTNWTKRDFNQFIKANEKYGRDDIDNIAREVEGKSPEEVMEYSAVFWERCNELQDIEKIMAQIERGEARIQRRISIKKALD
AKIARYKAPFHQLRIQYGTSKGKNYTEEEDRFLICMLHKMGFDRENVYEELRQCVRNAPQFRFDWFIKSRTAMEFQRRCNTLISLIEKEN

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

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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/chrX:17047746/chrX:128615162)
- 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
.	.
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: 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.

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

REPS2

chrX:17047746

chrX:128615162

ENST00000303843

3_76

256.0

660.0

Compositional bias

Note=Ala-rich

Hgene

REPS2

chrX:17047746

chrX:128615162

ENST00000357277

3_76

257.0

661.0

Compositional bias

Note=Ala-rich

Hgene

REPS2

chrX:17047746

chrX:128615162

ENST00000303843

34_147

256.0

660.0

Domain

EH 1

Hgene

REPS2

chrX:17047746

chrX:128615162

ENST00000357277

34_147

257.0

661.0

Domain

EH 1

Tgene

SMARCA1

chrX:17047746

chrX:128615162

ENST00000371121

855_907

727.0

1232.0

Domain

SANT 1

Tgene

SMARCA1

chrX:17047746

chrX:128615162

ENST00000371121

958_1022

727.0

1232.0

Domain

SANT 2

Tgene

SMARCA1

chrX:17047746

chrX:128615162

ENST00000371122

855_907

739.0

1237.6666666666667

Domain

SANT 1

Tgene

SMARCA1

chrX:17047746

chrX:128615162

ENST00000371122

958_1022

739.0

1237.6666666666667

Domain

SANT 2

Tgene

SMARCA1

chrX:17047746

chrX:128615162

ENST00000371123

855_907

727.0

1203.0

Domain

SANT 1

Tgene

SMARCA1

chrX:17047746

chrX:128615162

ENST00000371123

958_1022

727.0

1203.0

Domain

SANT 2

- 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

REPS2

chrX:17047746

chrX:128615162

ENST00000303843

328_339

256.0

660.0

Calcium binding

Ontology_term=ECO:0000255

Hgene

REPS2

chrX:17047746

chrX:128615162

ENST00000357277

328_339

257.0

661.0

Calcium binding

Ontology_term=ECO:0000255

Hgene

REPS2

chrX:17047746

chrX:128615162

ENST00000303843

601_657

256.0

660.0

Coiled coil

Ontology_term=ECO:0000255

Hgene

REPS2

chrX:17047746

chrX:128615162

ENST00000357277

601_657

257.0

661.0

Coiled coil

Ontology_term=ECO:0000255

Hgene

REPS2

chrX:17047746

chrX:128615162

ENST00000303843

477_524

256.0

660.0

Compositional bias

Note=Pro-rich

Hgene

REPS2

chrX:17047746

chrX:128615162

ENST00000357277

477_524

257.0

661.0

Compositional bias

Note=Pro-rich

Hgene

REPS2

chrX:17047746

chrX:128615162

ENST00000303843

282_373

256.0

660.0

Domain

EH 2

Hgene

REPS2

chrX:17047746

chrX:128615162

ENST00000303843

315_350

256.0

660.0

Domain

EF-hand

Hgene

REPS2

chrX:17047746

chrX:128615162

ENST00000357277

282_373

257.0

661.0

Domain

EH 2

Hgene

REPS2

chrX:17047746

chrX:128615162

ENST00000357277

315_350

257.0

661.0

Domain

EF-hand

Tgene

SMARCA1

chrX:17047746

chrX:128615162

ENST00000371121

195_360

727.0

1232.0

Domain

Helicase ATP-binding

Tgene

SMARCA1

chrX:17047746

chrX:128615162

ENST00000371121

490_653

727.0

1232.0

Domain

Helicase C-terminal

Tgene

SMARCA1

chrX:17047746

chrX:128615162

ENST00000371122

195_360

739.0

1237.6666666666667

Domain

Helicase ATP-binding

Tgene

SMARCA1

chrX:17047746

chrX:128615162

ENST00000371122

490_653

739.0

1237.6666666666667

Domain

Helicase C-terminal

Tgene

SMARCA1

chrX:17047746

chrX:128615162

ENST00000371123

195_360

727.0

1203.0

Domain

Helicase ATP-binding

Tgene

SMARCA1

chrX:17047746

chrX:128615162

ENST00000371123

490_653

727.0

1203.0

Domain

Helicase C-terminal

Tgene

SMARCA1

chrX:17047746

chrX:128615162

ENST00000371121

311_314

727.0

1232.0

Motif

Note=DEAH box

Tgene

SMARCA1

chrX:17047746

chrX:128615162

ENST00000371122

311_314

739.0

1237.6666666666667

Motif

Note=DEAH box

Tgene

SMARCA1

chrX:17047746

chrX:128615162

ENST00000371123

311_314

727.0

1203.0

Motif

Note=DEAH box

Tgene

SMARCA1

chrX:17047746

chrX:128615162

ENST00000371121

208_215

727.0

1232.0

Nucleotide binding

ATP

Tgene

SMARCA1

chrX:17047746

chrX:128615162

ENST00000371122

208_215

739.0

1237.6666666666667

Nucleotide binding

ATP

Tgene

SMARCA1

chrX:17047746

chrX:128615162

ENST00000371123

208_215

727.0

1203.0

Nucleotide binding

ATP

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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 >>>1229_REPS2_17047746_SMARCA1_128615162_1229_REPS2_17047746_SMARCA1_128615162_ranked_0.pdb	REPS2	17047746	17047746	ENST00000371123	SMARCA1	chrX	128615162	-	MEAAAAAAAAAAAAAAAGGGCGSGPPPLLLSEGEQQCYSELFARCAGAAGGGPGSGPPEAARVAPGTATAAAGPVADLFRASQLPAETLH QITELCGAKRVGYFGPTQFYIALKLIAAAQSGLPVRIESIKCELPLPRFMMSKNDGEIRFGNPAELHGTKVQIPYLTTEKNSFKRMDDED KQQETQSPTMSPLASPPSSPPHYQRVPLSHGYSKLRSSAEQMHPAPYEARQPLVQPEGSSSGGPGTKPLRHQASLIRLGMVEWIEPPKRE RKANYAVDAYFREALRVSEPKIPKAPRPPKQPNVQDFQFFPPRLFELLEKEILYYRKTIGYKVPRNPDIPNPALAQREEQKKIDGAEPLT PEETEEKEKLLTQGFTNWTKRDFNQFIKANEKYGRDDIDNIAREVEGKSPEEVMEYSAVFWERCNELQDIEKIMAQIERGEARIQRRISI KKALDAKIARYKAPFHQLRIQYGTSKGKNYTEEEDRFLICMLHKMGFDRENVYEELRQCVRNAPQFRFDWFIKSRTAMEFQRRCNTLISL	572

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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.

REPS2_pLDDT.png

SMARCA1_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
REPS2
SMARCA1

- 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
Hgene	REPS2	chrX:17047746	chrX:128615162	ENST00000303843	+	5	18	561_660	256.0	660.0	ASAP1
Hgene	REPS2	chrX:17047746	chrX:128615162	ENST00000357277	+	5	18	561_660	257.0	661.0	ASAP1
Hgene	REPS2	chrX:17047746	chrX:128615162	ENST00000303843	+	5	18	514_660	256.0	660.0	RALBP1
Hgene	REPS2	chrX:17047746	chrX:128615162	ENST00000357277	+	5	18	514_660	257.0	661.0	RALBP1

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Related Drugs to REPS2-SMARCA1

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 REPS2-SMARCA1

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