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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:SCYL1-COL1A1

Fusion Protein Summary

Fusion gene summary

Fusion partner gene information	Fusion gene name: SCYL1-COL1A1
	FusionPDB ID: 79768
	FusionGDB2.0 ID: 79768
		Hgene	Tgene
	Gene symbol	SCYL1	COL1A1
	Gene ID	57410	1277
	Gene name	SCY1 like pseudokinase 1	collagen type I alpha 1 chain
	Synonyms	GKLP\|HT019\|NKTL\|NTKL\|P105\|SCAR21\|TAPK\|TEIF\|TRAP	CAFYD\|EDSARTH1\|EDSC\|OI1\|OI2\|OI3\|OI4
	Cytomap	11q13.1	17q21.33
	Type of gene	protein-coding	protein-coding
	Description	N-terminal kinase-like proteinSCY1-like protein 1SCY1-like, kinase-like 1coated vesicle-associated kinase of 90 kDalikely ortholog of mouse N-terminal kinase-like proteintelomerase regulation-associated proteintelomerase transcriptional elements-int	collagen alpha-1(I) chainalpha-1 type I collagenalpha1(I) procollagencollagen alpha 1 chain type Icollagen alpha-1(I) chain preproproteincollagen of skin, tendon and bone, alpha-1 chaincollagen, type I, alpha 1pro-alpha-1 collagen type 1type I pro
	Modification date	20200313	20200322
	UniProtAcc	.	P02452
Ensembl transtripts involved in fusion gene	ENST ids	ENST00000270176, ENST00000279270, ENST00000420247, ENST00000524944, ENST00000525364, ENST00000527009, ENST00000533862, ENST00000534462,	ENST00000225964,
Fusion gene scores for assessment (based on all fusion genes of FusionGDB 2.0)	* DoF score	8 X 8 X 7=448	44 X 105 X 13=60060
	# samples	14	80
	** MAII score	log2(14/448*10)=-1.67807190511264 possibly effective Gene in Pan-Cancer Fusion Genes (peGinPCFGs). DoF>8 and MAII<0	log2(80/60060*10)=-6.23026066466979 possibly effective Gene in Pan-Cancer Fusion Genes (peGinPCFGs). DoF>8 and MAII<0
Context (manual curation of fusion genes in FusionPDB)	PubMed: SCYL1 [Title/Abstract] AND COL1A1 [Title/Abstract] AND fusion [Title/Abstract]
Most frequent breakpoint (based on all fusion genes of FusionGDB 2.0)	SCYL1(65300218)-COL1A1(48268274), # samples:2
Anticipated loss of major functional domain due to fusion event.	SCYL1-COL1A1 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. SCYL1-COL1A1 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. SCYL1-COL1A1 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. SCYL1-COL1A1 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	SCYL1	GO:0006890	retrograde vesicle-mediated transport, Golgi to ER	18556652
Tgene	COL1A1	GO:0010718	positive regulation of epithelial to mesenchymal transition	20018240
Tgene	COL1A1	GO:0030335	positive regulation of cell migration	20018240
Tgene	COL1A1	GO:0034504	protein localization to nucleus	20018240
Tgene	COL1A1	GO:0045893	positive regulation of transcription, DNA-templated	20018240
Tgene	COL1A1	GO:0090263	positive regulation of canonical Wnt signaling pathway	20018240

Fusion gene breakpoints across SCYL1 (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 COL1A1 (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
ChiTaRS5.0	N/A	BF926669	SCYL1	chr11	65300218	+	COL1A1	chr17	48268274	-
ChiTaRS5.0	N/A	CV337912	SCYL1	chr11	65300218	+	COL1A1	chr17	48268274	-

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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)
ENST00000525364	SCYL1	chr11	65300218	+	ENST00000225964	COL1A1	chr17	48268274	-	5613	1251	5611	4298	437
ENST00000270176	SCYL1	chr11	65300218	+	ENST00000225964	COL1A1	chr17	48268274	-	5613	1251	5611	4298	437
ENST00000420247	SCYL1	chr11	65300218	+	ENST00000225964	COL1A1	chr17	48268274	-	5605	1243	5603	4290	437
ENST00000533862	SCYL1	chr11	65300218	+	ENST00000225964	COL1A1	chr17	48268274	-	5578	1216	5576	4263	437
ENST00000279270	SCYL1	chr11	65300218	+	ENST00000225964	COL1A1	chr17	48268274	-	5577	1215	5575	4262	437
ENST00000524944	SCYL1	chr11	65300218	+	ENST00000225964	COL1A1	chr17	48268274	-	5569	1207	5567	4254	437
ENST00000527009	SCYL1	chr11	65300218	+	ENST00000225964	COL1A1	chr17	48268274	-	5586	1224	5584	4271	437

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
ENST00000525364	ENST00000225964	SCYL1	chr11	65300218	+	COL1A1	chr17	48268274	-	0.003737445	0.9962625
ENST00000270176	ENST00000225964	SCYL1	chr11	65300218	+	COL1A1	chr17	48268274	-	0.003737445	0.9962625
ENST00000420247	ENST00000225964	SCYL1	chr11	65300218	+	COL1A1	chr17	48268274	-	0.00374126	0.99625874
ENST00000533862	ENST00000225964	SCYL1	chr11	65300218	+	COL1A1	chr17	48268274	-	0.003731445	0.9962685
ENST00000279270	ENST00000225964	SCYL1	chr11	65300218	+	COL1A1	chr17	48268274	-	0.003734964	0.996265
ENST00000524944	ENST00000225964	SCYL1	chr11	65300218	+	COL1A1	chr17	48268274	-	0.003675553	0.99632436
ENST00000527009	ENST00000225964	SCYL1	chr11	65300218	+	COL1A1	chr17	48268274	-	0.047883723	0.95211625

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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

>79768_79768_1_SCYL1-COL1A1_SCYL1_chr11_65300218_ENST00000270176_COL1A1_chr17_48268274_ENST00000225964_length(amino acids)=437AA_BP=5
LSPGAPAGPGGPMGPVRPRTPSLPGEPSAPLGGGTTSSSGTSRAAGTTFTRGASKASRAGGTRLTTVSNGARGSSGSGRARGTSIAFSTS
ITRFAFSTRLAVSTRGTSAAASTFGSRSTNITRGARRTDSASSTRETSSTSRTISTRGSFLASRARGTRGTNFTRTSSRASLTTGTFAAF
FASRTRRARGSSISRGARKTREASLSSLTRQADHTTLSSNTLRPGSTRSTLTSRFTRGSSQSRGAHGTRGTTFTTCSRGTLFARFTLGAR
RTVSSRGTFGTRSPSLTTITTLASRANGARGTRSTRSTRGSSGAGLTTVTGGATGANRADRTGGTSRTRRARGTLEAREATVTLYASVAL

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

>79768_79768_2_SCYL1-COL1A1_SCYL1_chr11_65300218_ENST00000279270_COL1A1_chr17_48268274_ENST00000225964_length(amino acids)=437AA_BP=5
LSPGAPAGPGGPMGPVRPRTPSLPGEPSAPLGGGTTSSSGTSRAAGTTFTRGASKASRAGGTRLTTVSNGARGSSGSGRARGTSIAFSTS
ITRFAFSTRLAVSTRGTSAAASTFGSRSTNITRGARRTDSASSTRETSSTSRTISTRGSFLASRARGTRGTNFTRTSSRASLTTGTFAAF
FASRTRRARGSSISRGARKTREASLSSLTRQADHTTLSSNTLRPGSTRSTLTSRFTRGSSQSRGAHGTRGTTFTTCSRGTLFARFTLGAR
RTVSSRGTFGTRSPSLTTITTLASRANGARGTRSTRSTRGSSGAGLTTVTGGATGANRADRTGGTSRTRRARGTLEAREATVTLYASVAL

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

>79768_79768_3_SCYL1-COL1A1_SCYL1_chr11_65300218_ENST00000420247_COL1A1_chr17_48268274_ENST00000225964_length(amino acids)=437AA_BP=5
LSPGAPAGPGGPMGPVRPRTPSLPGEPSAPLGGGTTSSSGTSRAAGTTFTRGASKASRAGGTRLTTVSNGARGSSGSGRARGTSIAFSTS
ITRFAFSTRLAVSTRGTSAAASTFGSRSTNITRGARRTDSASSTRETSSTSRTISTRGSFLASRARGTRGTNFTRTSSRASLTTGTFAAF
FASRTRRARGSSISRGARKTREASLSSLTRQADHTTLSSNTLRPGSTRSTLTSRFTRGSSQSRGAHGTRGTTFTTCSRGTLFARFTLGAR
RTVSSRGTFGTRSPSLTTITTLASRANGARGTRSTRSTRGSSGAGLTTVTGGATGANRADRTGGTSRTRRARGTLEAREATVTLYASVAL

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

>79768_79768_4_SCYL1-COL1A1_SCYL1_chr11_65300218_ENST00000524944_COL1A1_chr17_48268274_ENST00000225964_length(amino acids)=437AA_BP=5
LSPGAPAGPGGPMGPVRPRTPSLPGEPSAPLGGGTTSSSGTSRAAGTTFTRGASKASRAGGTRLTTVSNGARGSSGSGRARGTSIAFSTS
ITRFAFSTRLAVSTRGTSAAASTFGSRSTNITRGARRTDSASSTRETSSTSRTISTRGSFLASRARGTRGTNFTRTSSRASLTTGTFAAF
FASRTRRARGSSISRGARKTREASLSSLTRQADHTTLSSNTLRPGSTRSTLTSRFTRGSSQSRGAHGTRGTTFTTCSRGTLFARFTLGAR
RTVSSRGTFGTRSPSLTTITTLASRANGARGTRSTRSTRGSSGAGLTTVTGGATGANRADRTGGTSRTRRARGTLEAREATVTLYASVAL

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

>79768_79768_5_SCYL1-COL1A1_SCYL1_chr11_65300218_ENST00000525364_COL1A1_chr17_48268274_ENST00000225964_length(amino acids)=437AA_BP=5
LSPGAPAGPGGPMGPVRPRTPSLPGEPSAPLGGGTTSSSGTSRAAGTTFTRGASKASRAGGTRLTTVSNGARGSSGSGRARGTSIAFSTS
ITRFAFSTRLAVSTRGTSAAASTFGSRSTNITRGARRTDSASSTRETSSTSRTISTRGSFLASRARGTRGTNFTRTSSRASLTTGTFAAF
FASRTRRARGSSISRGARKTREASLSSLTRQADHTTLSSNTLRPGSTRSTLTSRFTRGSSQSRGAHGTRGTTFTTCSRGTLFARFTLGAR
RTVSSRGTFGTRSPSLTTITTLASRANGARGTRSTRSTRGSSGAGLTTVTGGATGANRADRTGGTSRTRRARGTLEAREATVTLYASVAL

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

>79768_79768_6_SCYL1-COL1A1_SCYL1_chr11_65300218_ENST00000527009_COL1A1_chr17_48268274_ENST00000225964_length(amino acids)=437AA_BP=5
LSPGAPAGPGGPMGPVRPRTPSLPGEPSAPLGGGTTSSSGTSRAAGTTFTRGASKASRAGGTRLTTVSNGARGSSGSGRARGTSIAFSTS
ITRFAFSTRLAVSTRGTSAAASTFGSRSTNITRGARRTDSASSTRETSSTSRTISTRGSFLASRARGTRGTNFTRTSSRASLTTGTFAAF
FASRTRRARGSSISRGARKTREASLSSLTRQADHTTLSSNTLRPGSTRSTLTSRFTRGSSQSRGAHGTRGTTFTTCSRGTLFARFTLGAR
RTVSSRGTFGTRSPSLTTITTLASRANGARGTRSTRSTRGSSGAGLTTVTGGATGANRADRTGGTSRTRRARGTLEAREATVTLYASVAL

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

>79768_79768_7_SCYL1-COL1A1_SCYL1_chr11_65300218_ENST00000533862_COL1A1_chr17_48268274_ENST00000225964_length(amino acids)=437AA_BP=5
LSPGAPAGPGGPMGPVRPRTPSLPGEPSAPLGGGTTSSSGTSRAAGTTFTRGASKASRAGGTRLTTVSNGARGSSGSGRARGTSIAFSTS
ITRFAFSTRLAVSTRGTSAAASTFGSRSTNITRGARRTDSASSTRETSSTSRTISTRGSFLASRARGTRGTNFTRTSSRASLTTGTFAAF
FASRTRRARGSSISRGARKTREASLSSLTRQADHTTLSSNTLRPGSTRSTLTSRFTRGSSQSRGAHGTRGTTFTTCSRGTLFARFTLGAR
RTVSSRGTFGTRSPSLTTITTLASRANGARGTRSTRSTRGSSGAGLTTVTGGATGANRADRTGGTSRTRRARGTLEAREATVTLYASVAL

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

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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/chr11:65300218/chr17:48268274)
- 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
.	COL1A1 P02452
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: Type I collagen is a member of group I collagen (fibrillar forming collagen).

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

COL1A1

chr11:65300218

chr17:48268274

ENST00000225964

1229_1464

1465.0

Domain

Fibrillar collagen NC1

Tgene

COL1A1

chr11:65300218

chr17:48268274

ENST00000225964

38_96

1465.0

Domain

VWFC

Tgene

COL1A1

chr11:65300218

chr17:48268274

ENST00000225964

1093_1095

1465.0

Motif

Cell attachment site

Tgene

COL1A1

chr11:65300218

chr17:48268274

ENST00000225964

745_747

1465.0

Motif

Cell attachment site

Tgene

COL1A1

chr11:65300218

chr17:48268274

ENST00000225964

1193_1218

1465.0

Region

Note=Nonhelical region (C-terminal)

Tgene

COL1A1

chr11:65300218

chr17:48268274

ENST00000225964

162_178

1465.0

Region

Note=Nonhelical region (N-terminal)

Tgene

COL1A1

chr11:65300218

chr17:48268274

ENST00000225964

179_1192

1465.0

Region

Note=Triple-helical region

- 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

SCYL1

chr11:65300218

chr17:48268274

ENST00000270176

761_797

809.0

Coiled coil

Ontology_term=ECO:0000255

Hgene

SCYL1

chr11:65300218

chr17:48268274

ENST00000279270

761_797

782.0

Coiled coil

Ontology_term=ECO:0000255

Hgene

SCYL1

chr11:65300218

chr17:48268274

ENST00000420247

761_797

792.0

Coiled coil

Ontology_term=ECO:0000255

Hgene

SCYL1

chr11:65300218

chr17:48268274

ENST00000533862

761_797

788.0

Coiled coil

Ontology_term=ECO:0000255

Hgene

SCYL1

chr11:65300218

chr17:48268274

ENST00000270176

589_619

809.0

Compositional bias

Note=Pro-rich

Hgene

SCYL1

chr11:65300218

chr17:48268274

ENST00000279270

589_619

782.0

Compositional bias

Note=Pro-rich

Hgene

SCYL1

chr11:65300218

chr17:48268274

ENST00000420247

589_619

792.0

Compositional bias

Note=Pro-rich

Hgene

SCYL1

chr11:65300218

chr17:48268274

ENST00000533862

589_619

788.0

Compositional bias

Note=Pro-rich

Hgene

SCYL1

chr11:65300218

chr17:48268274

ENST00000270176

14_314

809.0

Domain

Protein kinase

Hgene

SCYL1

chr11:65300218

chr17:48268274

ENST00000279270

14_314

782.0

Domain

Protein kinase

Hgene

SCYL1

chr11:65300218

chr17:48268274

ENST00000420247

14_314

792.0

Domain

Protein kinase

Hgene

SCYL1

chr11:65300218

chr17:48268274

ENST00000533862

14_314

788.0

Domain

Protein kinase

Hgene

SCYL1

chr11:65300218

chr17:48268274

ENST00000270176

350_388

809.0

Repeat

Note=HEAT 1

Hgene

SCYL1

chr11:65300218

chr17:48268274

ENST00000270176

389_427

809.0

Repeat

Note=HEAT 2

Hgene

SCYL1

chr11:65300218

chr17:48268274

ENST00000270176

507_545

809.0

Repeat

Note=HEAT 3

Hgene

SCYL1

chr11:65300218

chr17:48268274

ENST00000279270

350_388

782.0

Repeat

Note=HEAT 1

Hgene

SCYL1

chr11:65300218

chr17:48268274

ENST00000279270

389_427

782.0

Repeat

Note=HEAT 2

Hgene

SCYL1

chr11:65300218

chr17:48268274

ENST00000279270

507_545

782.0

Repeat

Note=HEAT 3

Hgene

SCYL1

chr11:65300218

chr17:48268274

ENST00000420247

350_388

792.0

Repeat

Note=HEAT 1

Hgene

SCYL1

chr11:65300218

chr17:48268274

ENST00000420247

389_427

792.0

Repeat

Note=HEAT 2

Hgene

SCYL1

chr11:65300218

chr17:48268274

ENST00000420247

507_545

792.0

Repeat

Note=HEAT 3

Hgene

SCYL1

chr11:65300218

chr17:48268274

ENST00000533862

350_388

788.0

Repeat

Note=HEAT 1

Hgene

SCYL1

chr11:65300218

chr17:48268274

ENST00000533862

389_427

788.0

Repeat

Note=HEAT 2

Hgene

SCYL1

chr11:65300218

chr17:48268274

ENST00000533862

507_545

788.0

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 >>>916_SCYL1_65300218_COL1A1_48268274_916_SCYL1_65300218_COL1A1_48268274_ranked_0.pdb	SCYL1	65300218	65300218	ENST00000225964	COL1A1	chr17	48268274	-	LSPGAPAGPGGPMGPVRPRTPSLPGEPSAPLGGGTTSSSGTSRAAGTTFTRGASKASRAGGTRLTTVSNGARGSSGSGRARGTSIAFSTS ITRFAFSTRLAVSTRGTSAAASTFGSRSTNITRGARRTDSASSTRETSSTSRTISTRGSFLASRARGTRGTNFTRTSSRASLTTGTFAAF FASRTRRARGSSISRGARKTREASLSSLTRQADHTTLSSNTLRPGSTRSTLTSRFTRGSSQSRGAHGTRGTTFTTCSRGTLFARFTLGAR RTVSSRGTFGTRSPSLTTITTLASRANGARGTRSTRSTRGSSGAGLTTVTGGATGANRADRTGGTSRTRRARGTLEAREATVTLYASVAL	437

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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.

SCYL1_pLDDT.png

COL1A1_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

COL1A1

IGFBP3, TXN, ITGA2, ITGB1, NID1, Nid1, NID2, SPARC, PRELP, PKD1, VWF, THBS1, MMP2, COL7A1, MATN2, MAG, ELAVL1, ATP13A2, C12orf57, RNH1, BARD1, BRCA1, UBC, CAPN1, COL1A1, COL1A2, PDGFA, PDGFB, GIPC2, UBXN11, DNM3, CD200R1, TMTC4, ERAL1, CAMKMT, TMEM180, OTUB1, EGFR, COLGALT2, P4HA2, PLOD1, LIN9, TIMM44, RASGEF1B, TLE3, YAF2, LPAR1, CYLD, MCPH1, HEXIM1, PPP1CC, KEAP1, PINK1, CDC42, NMRAL1, PAX3, NTPCR, FOXO1, IGLC1, DDX58, YIPF1, LAIR2, LAT, KIAA1191, SLC25A40, CTNND1, FOXD3, CHMP3, ZNF645, CD247, RANBP6, TRIM41, TNFRSF10D, KIR3DS1, SMDT1, PPIA, PEG10, TMEM44, RNF144A, VCP, TESPA1, ABHD14A, TADA1, ST3GAL3, KLF15, BGN, TGM2, COL18A1, NLRP7,

Protein-protein interactors based on sequence similarity (STRING)

Gene	STRING network
SCYL1
COL1A1

- 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	SCYL1	chr11:65300218	chr17:48268274	ENST00000270176	+	1	18	793_808	0	809.0	COPB1
Hgene	SCYL1	chr11:65300218	chr17:48268274	ENST00000279270	+	1	17	793_808	0	782.0	COPB1
Hgene	SCYL1	chr11:65300218	chr17:48268274	ENST00000420247	+	1	18	793_808	0	792.0	COPB1
Hgene	SCYL1	chr11:65300218	chr17:48268274	ENST00000533862	+	1	18	793_808	0	788.0	COPB1

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Related Drugs to SCYL1-COL1A1

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 SCYL1-COL1A1

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	COL1A1	C0268358	Osteogenesis imperfecta, dominant perinatal lethal	38	CTD_human;GENOMICS_ENGLAND;ORPHANET;UNIPROT
Tgene	COL1A1	C0268362	Osteogenesis imperfecta type III (disorder)	17	CTD_human;GENOMICS_ENGLAND;ORPHANET;UNIPROT
Tgene	COL1A1	C0023931	Lobstein Disease	15	CTD_human;GENOMICS_ENGLAND;ORPHANET;UNIPROT
Tgene	COL1A1	C0268363	Osteogenesis imperfecta type IV (disorder)	12	GENOMICS_ENGLAND;ORPHANET;UNIPROT
Tgene	COL1A1	C0023890	Liver Cirrhosis	4	CTD_human
Tgene	COL1A1	C0239946	Fibrosis, Liver	4	CTD_human
Tgene	COL1A1	C4551623	EHLERS-DANLOS SYNDROME, ARTHROCHALASIA TYPE, 1	4	CTD_human;GENOMICS_ENGLAND
Tgene	COL1A1	C4552122	EHLERS-DANLOS SYNDROME, CLASSIC TYPE, 1	4	GENOMICS_ENGLAND;UNIPROT
Tgene	COL1A1	C0020497	Cortical Congenital Hyperostosis	3	CTD_human;GENOMICS_ENGLAND;UNIPROT
Tgene	COL1A1	C0023893	Liver Cirrhosis, Experimental	3	CTD_human
Tgene	COL1A1	C0268345	EHLERS-DANLOS SYNDROME, ARTHROCHALASIA TYPE	2	ORPHANET
Tgene	COL1A1	C0000786	Spontaneous abortion	1	CTD_human
Tgene	COL1A1	C0000822	Abortion, Tubal	1	CTD_human
Tgene	COL1A1	C0002949	Aneurysm, Dissecting	1	CTD_human
Tgene	COL1A1	C0003504	Aortic Valve Insufficiency	1	CTD_human
Tgene	COL1A1	C0004364	Autoimmune Diseases	1	CTD_human
Tgene	COL1A1	C0005398	Cholestasis, Extrahepatic	1	CTD_human
Tgene	COL1A1	C0005779	Blood Coagulation Disorders	1	GENOMICS_ENGLAND
Tgene	COL1A1	C0006663	Calcinosis	1	CTD_human
Tgene	COL1A1	C0008311	Cholangitis	1	CTD_human
Tgene	COL1A1	C0013720	Ehlers-Danlos Syndrome	1	GENOMICS_ENGLAND
Tgene	COL1A1	C0016059	Fibrosis	1	CTD_human
Tgene	COL1A1	C0018824	Heart valve disease	1	CTD_human
Tgene	COL1A1	C0020538	Hypertensive disease	1	CTD_human
Tgene	COL1A1	C0022548	Keloid	1	CTD_human
Tgene	COL1A1	C0027719	Nephrosclerosis	1	CTD_human
Tgene	COL1A1	C0027726	Nephrotic Syndrome	1	CTD_human
Tgene	COL1A1	C0029172	Oral Submucous Fibrosis	1	CTD_human
Tgene	COL1A1	C0029434	Osteogenesis Imperfecta	1	CTD_human;GENOMICS_ENGLAND
Tgene	COL1A1	C0149721	Left Ventricular Hypertrophy	1	CTD_human
Tgene	COL1A1	C0220679	Ehlers-Danlos Syndrome, Autosomal Dominant, Type Unspecified	1	ORPHANET
Tgene	COL1A1	C0263628	Tumoral calcinosis	1	CTD_human
Tgene	COL1A1	C0340643	Dissection of aorta	1	CTD_human
Tgene	COL1A1	C0521174	Microcalcification	1	CTD_human
Tgene	COL1A1	C1458140	Bleeding tendency	1	GENOMICS_ENGLAND
Tgene	COL1A1	C1619692	Nephrogenic Fibrosing Dermopathy	1	CTD_human
Tgene	COL1A1	C1623038	Cirrhosis	1	CTD_human
Tgene	COL1A1	C1846545	Autoimmune Lymphoproliferative Syndrome Type 2B	1	GENOMICS_ENGLAND
Tgene	COL1A1	C3830362	Early Pregnancy Loss	1	CTD_human
Tgene	COL1A1	C4277533	Dissection, Blood Vessel	1	CTD_human
Tgene	COL1A1	C4552766	Miscarriage	1	CTD_human