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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:ARHGEF1-UCKL1

Fusion Protein Summary

Fusion gene summary

Fusion partner gene information	Fusion gene name: ARHGEF1-UCKL1
	FusionPDB ID: 6261
	FusionGDB2.0 ID: 6261
		Hgene	Tgene
	Gene symbol	ARHGEF1	UCKL1
	Gene ID	9138	54963
	Gene name	Rho guanine nucleotide exchange factor 1	uridine-cytidine kinase 1 like 1
	Synonyms	GEF1\|IMD62\|LBCL2\|LSC\|P115-RHOGEF\|SUB1.5	UCK1L\|URKL1
	Cytomap	19q13.2	20q13.33
	Type of gene	protein-coding	protein-coding
	Description	rho guanine nucleotide exchange factor 1115 kDa guanine nucleotide exchange factor115-kD proteinLsc homologRho guanine nucleotide exchange factor (GEF) 1p115RhoGEF	uridine-cytidine kinase-like 1UCK1-LIKE
	Modification date	20200320	20200313
	UniProtAcc	Q8IW93	.
Ensembl transtripts involved in fusion gene	ENST ids	ENST00000337665, ENST00000347545, ENST00000354532, ENST00000378152, ENST00000599846, ENST00000596957,	ENST00000492660, ENST00000358711, ENST00000354216, ENST00000369892, ENST00000369908,
Fusion gene scores for assessment (based on all fusion genes of FusionGDB 2.0)	* DoF score	11 X 9 X 6=594	6 X 3 X 3=54
	# samples	12	6
	** MAII score	log2(12/594*10)=-2.30742852519225 possibly effective Gene in Pan-Cancer Fusion Genes (peGinPCFGs). DoF>8 and MAII<0	log2(6/54*10)=0.15200309344505 effective Gene in Pan-Cancer Fusion Genes (eGinPCFGs). DoF>8 and MAII>0
Context (manual curation of fusion genes in FusionPDB)	PubMed: ARHGEF1 [Title/Abstract] AND UCKL1 [Title/Abstract] AND fusion [Title/Abstract]
Most frequent breakpoint (based on all fusion genes of FusionGDB 2.0)	ARHGEF1(42400555)-UCKL1(62572561), # samples:4
Anticipated loss of major functional domain due to fusion event.	ARHGEF1-UCKL1 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. ARHGEF1-UCKL1 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. ARHGEF1-UCKL1 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. ARHGEF1-UCKL1 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. ARHGEF1-UCKL1 seems lost the major protein functional domain in Hgene partner, which is a essential gene due to the frame-shifted ORF. ARHGEF1-UCKL1 seems lost the major protein functional domain in Tgene partner, which is a cell metabolism 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

Fusion gene breakpoints across ARHGEF1 (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 UCKL1 (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	COAD	TCGA-D5-6529-01A	ARHGEF1	chr19	42400555	-	UCKL1	chr20	62572561	-
ChimerDB4	READ	TCGA-G5-6572-01A	ARHGEF1	chr19	42400555	-	UCKL1	chr20	62572561	-
ChimerDB4	READ	TCGA-G5-6572	ARHGEF1	chr19	42400555	+	UCKL1	chr20	62572561	-

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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)
ENST00000354532	ARHGEF1	chr19	42400555	+	ENST00000354216	UCKL1	chr20	62572561	-	2136	1269	148	1992	614
ENST00000354532	ARHGEF1	chr19	42400555	+	ENST00000369892	UCKL1	chr20	62572561	-	2129	1269	148	1320	390
ENST00000354532	ARHGEF1	chr19	42400555	+	ENST00000369908	UCKL1	chr20	62572561	-	2045	1269	148	1992	614
ENST00000599846	ARHGEF1	chr19	42400555	+	ENST00000354216	UCKL1	chr20	62572561	-	2113	1246	125	1969	614
ENST00000599846	ARHGEF1	chr19	42400555	+	ENST00000369892	UCKL1	chr20	62572561	-	2106	1246	125	1297	390
ENST00000599846	ARHGEF1	chr19	42400555	+	ENST00000369908	UCKL1	chr20	62572561	-	2022	1246	125	1969	614
ENST00000347545	ARHGEF1	chr19	42400555	+	ENST00000354216	UCKL1	chr20	62572561	-	1973	1106	84	1829	581
ENST00000347545	ARHGEF1	chr19	42400555	+	ENST00000369892	UCKL1	chr20	62572561	-	1966	1106	84	1157	357
ENST00000347545	ARHGEF1	chr19	42400555	+	ENST00000369908	UCKL1	chr20	62572561	-	1882	1106	84	1829	581
ENST00000378152	ARHGEF1	chr19	42400555	+	ENST00000354216	UCKL1	chr20	62572561	-	2032	1165	98	1888	596
ENST00000378152	ARHGEF1	chr19	42400555	+	ENST00000369892	UCKL1	chr20	62572561	-	2025	1165	98	1216	372
ENST00000378152	ARHGEF1	chr19	42400555	+	ENST00000369908	UCKL1	chr20	62572561	-	1941	1165	98	1888	596
ENST00000337665	ARHGEF1	chr19	42400555	+	ENST00000354216	UCKL1	chr20	62572561	-	2053	1186	20	1909	629
ENST00000337665	ARHGEF1	chr19	42400555	+	ENST00000369892	UCKL1	chr20	62572561	-	2046	1186	20	1237	405
ENST00000337665	ARHGEF1	chr19	42400555	+	ENST00000369908	UCKL1	chr20	62572561	-	1962	1186	20	1909	629

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
ENST00000354532	ENST00000354216	ARHGEF1	chr19	42400555	+	UCKL1	chr20	62572561	-	0.018050747	0.98194927
ENST00000354532	ENST00000369892	ARHGEF1	chr19	42400555	+	UCKL1	chr20	62572561	-	0.027259419	0.97274053
ENST00000354532	ENST00000369908	ARHGEF1	chr19	42400555	+	UCKL1	chr20	62572561	-	0.02276395	0.97723603
ENST00000599846	ENST00000354216	ARHGEF1	chr19	42400555	+	UCKL1	chr20	62572561	-	0.018708847	0.9812912
ENST00000599846	ENST00000369892	ARHGEF1	chr19	42400555	+	UCKL1	chr20	62572561	-	0.027456539	0.9725434
ENST00000599846	ENST00000369908	ARHGEF1	chr19	42400555	+	UCKL1	chr20	62572561	-	0.023519734	0.97648025
ENST00000347545	ENST00000354216	ARHGEF1	chr19	42400555	+	UCKL1	chr20	62572561	-	0.016907787	0.98309225
ENST00000347545	ENST00000369892	ARHGEF1	chr19	42400555	+	UCKL1	chr20	62572561	-	0.012936478	0.9870635
ENST00000347545	ENST00000369908	ARHGEF1	chr19	42400555	+	UCKL1	chr20	62572561	-	0.022009129	0.97799087
ENST00000378152	ENST00000354216	ARHGEF1	chr19	42400555	+	UCKL1	chr20	62572561	-	0.013811802	0.98618823
ENST00000378152	ENST00000369892	ARHGEF1	chr19	42400555	+	UCKL1	chr20	62572561	-	0.017713718	0.9822863
ENST00000378152	ENST00000369908	ARHGEF1	chr19	42400555	+	UCKL1	chr20	62572561	-	0.018811123	0.98118895
ENST00000337665	ENST00000354216	ARHGEF1	chr19	42400555	+	UCKL1	chr20	62572561	-	0.017054869	0.98294514
ENST00000337665	ENST00000369892	ARHGEF1	chr19	42400555	+	UCKL1	chr20	62572561	-	0.02810594	0.971894
ENST00000337665	ENST00000369908	ARHGEF1	chr19	42400555	+	UCKL1	chr20	62572561	-	0.023210846	0.9767892

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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

>6261_6261_1_ARHGEF1-UCKL1_ARHGEF1_chr19_42400555_ENST00000337665_UCKL1_chr20_62572561_ENST00000354216_length(amino acids)=629AA_BP=388
MASLSTWSSPAEPREMEDFARGAASPGPSRPGLVPVSIIGAEDEDFENELETNSEEQNSQFQSLEQVKRRPAHLMALLQHVALQFEPGPL
LCCLHADMLGSLGPKEAKKAFLDFYHSFLEKTAVLRVPVPPNVAFELDRTRADLISEDVQRRFVQEVVQSQQVAVGRQLEDFRSKRLMGM
TPWEQELAQLEAWVGRDRASYEARERHVAERLLMHLEEMQHTISTDEEKSAAVVNAIGLYMRHLGVRTKSGDKKSGRNFFRKKVMGNRRS
DEPAKTKKGLSSILDAARWNRGEPQVPDFRHLKAEVDAEKPGATDRKGGVGMPSRDRNIGAPGQDTPGVSLHPLSLDSPDREPGADAPLE
LGDSSPQGPMSLESLAPPESTDEGAETERAALASAHQCHPLPRTLSVLKSTPQVRGMHTIIRDKETSRDEFIFYSKRLMRLLIEHALSFL
PFQDCVVQTPQGQDYAGKCYAGKQITGVSILRAGETMEPALRAVCKDVRIGTILIQTNQLTGEPELHYLRLPKDISDDHVILMDCTVSTG

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

>6261_6261_2_ARHGEF1-UCKL1_ARHGEF1_chr19_42400555_ENST00000337665_UCKL1_chr20_62572561_ENST00000369892_length(amino acids)=405AA_BP=
MASLSTWSSPAEPREMEDFARGAASPGPSRPGLVPVSIIGAEDEDFENELETNSEEQNSQFQSLEQVKRRPAHLMALLQHVALQFEPGPL
LCCLHADMLGSLGPKEAKKAFLDFYHSFLEKTAVLRVPVPPNVAFELDRTRADLISEDVQRRFVQEVVQSQQVAVGRQLEDFRSKRLMGM
TPWEQELAQLEAWVGRDRASYEARERHVAERLLMHLEEMQHTISTDEEKSAAVVNAIGLYMRHLGVRTKSGDKKSGRNFFRKKVMGNRRS
DEPAKTKKGLSSILDAARWNRGEPQVPDFRHLKAEVDAEKPGATDRKGGVGMPSRDRNIGAPGQDTPGVSLHPLSLDSPDREPGADAPLE

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

>6261_6261_3_ARHGEF1-UCKL1_ARHGEF1_chr19_42400555_ENST00000337665_UCKL1_chr20_62572561_ENST00000369908_length(amino acids)=629AA_BP=388
MASLSTWSSPAEPREMEDFARGAASPGPSRPGLVPVSIIGAEDEDFENELETNSEEQNSQFQSLEQVKRRPAHLMALLQHVALQFEPGPL
LCCLHADMLGSLGPKEAKKAFLDFYHSFLEKTAVLRVPVPPNVAFELDRTRADLISEDVQRRFVQEVVQSQQVAVGRQLEDFRSKRLMGM
TPWEQELAQLEAWVGRDRASYEARERHVAERLLMHLEEMQHTISTDEEKSAAVVNAIGLYMRHLGVRTKSGDKKSGRNFFRKKVMGNRRS
DEPAKTKKGLSSILDAARWNRGEPQVPDFRHLKAEVDAEKPGATDRKGGVGMPSRDRNIGAPGQDTPGVSLHPLSLDSPDREPGADAPLE
LGDSSPQGPMSLESLAPPESTDEGAETERAALASAHQCHPLPRTLSVLKSTPQVRGMHTIIRDKETSRDEFIFYSKRLMRLLIEHALSFL
PFQDCVVQTPQGQDYAGKCYAGKQITGVSILRAGETMEPALRAVCKDVRIGTILIQTNQLTGEPELHYLRLPKDISDDHVILMDCTVSTG

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

>6261_6261_4_ARHGEF1-UCKL1_ARHGEF1_chr19_42400555_ENST00000347545_UCKL1_chr20_62572561_ENST00000354216_length(amino acids)=581AA_BP=340
MEDFARGAASPGPSRPGLVPVSIIGAEDEDFENELETNSEEQNSQFQSLEQVKRRPAHLMALLQHVALQFEPGPLVLRVPVPPNVAFELD
RTRADLISEDVQRRFVQEVVQSQQVAVGRQLEDFRSKRLMGMTPWEQELAQLEAWVGRDRASYEARERHVAERLLMHLEEMQHTISTDEE
KSAAVVNAIGLYMRHLGVRTKSGDKKSGRNFFRKKVMGNRRSDEPAKTKKGLSSILDAARWNRGEPQVPDFRHLKAEVDAEKPGATDRKG
GVGMPSRDRNIGAPGQDTPGVSLHPLSLDSPDREPGADAPLELGDSSPQGPMSLESLAPPESTDEGAETERAALASAHQCHPLPRTLSVL
KSTPQVRGMHTIIRDKETSRDEFIFYSKRLMRLLIEHALSFLPFQDCVVQTPQGQDYAGKCYAGKQITGVSILRAGETMEPALRAVCKDV
RIGTILIQTNQLTGEPELHYLRLPKDISDDHVILMDCTVSTGAAAMMAVRVLLDHDVPEDKIFLLSLLMAEMGVHSVAYAFPRVRIITTA

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

>6261_6261_5_ARHGEF1-UCKL1_ARHGEF1_chr19_42400555_ENST00000347545_UCKL1_chr20_62572561_ENST00000369892_length(amino acids)=357AA_BP=
MEDFARGAASPGPSRPGLVPVSIIGAEDEDFENELETNSEEQNSQFQSLEQVKRRPAHLMALLQHVALQFEPGPLVLRVPVPPNVAFELD
RTRADLISEDVQRRFVQEVVQSQQVAVGRQLEDFRSKRLMGMTPWEQELAQLEAWVGRDRASYEARERHVAERLLMHLEEMQHTISTDEE
KSAAVVNAIGLYMRHLGVRTKSGDKKSGRNFFRKKVMGNRRSDEPAKTKKGLSSILDAARWNRGEPQVPDFRHLKAEVDAEKPGATDRKG

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

>6261_6261_6_ARHGEF1-UCKL1_ARHGEF1_chr19_42400555_ENST00000347545_UCKL1_chr20_62572561_ENST00000369908_length(amino acids)=581AA_BP=340
MEDFARGAASPGPSRPGLVPVSIIGAEDEDFENELETNSEEQNSQFQSLEQVKRRPAHLMALLQHVALQFEPGPLVLRVPVPPNVAFELD
RTRADLISEDVQRRFVQEVVQSQQVAVGRQLEDFRSKRLMGMTPWEQELAQLEAWVGRDRASYEARERHVAERLLMHLEEMQHTISTDEE
KSAAVVNAIGLYMRHLGVRTKSGDKKSGRNFFRKKVMGNRRSDEPAKTKKGLSSILDAARWNRGEPQVPDFRHLKAEVDAEKPGATDRKG
GVGMPSRDRNIGAPGQDTPGVSLHPLSLDSPDREPGADAPLELGDSSPQGPMSLESLAPPESTDEGAETERAALASAHQCHPLPRTLSVL
KSTPQVRGMHTIIRDKETSRDEFIFYSKRLMRLLIEHALSFLPFQDCVVQTPQGQDYAGKCYAGKQITGVSILRAGETMEPALRAVCKDV
RIGTILIQTNQLTGEPELHYLRLPKDISDDHVILMDCTVSTGAAAMMAVRVLLDHDVPEDKIFLLSLLMAEMGVHSVAYAFPRVRIITTA

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

>6261_6261_7_ARHGEF1-UCKL1_ARHGEF1_chr19_42400555_ENST00000354532_UCKL1_chr20_62572561_ENST00000354216_length(amino acids)=614AA_BP=373
MEDFARGAASPGPSRPGLVPVSIIGAEDEDFENELETNSEEQNSQFQSLEQVKRRPAHLMALLQHVALQFEPGPLLCCLHADMLGSLGPK
EAKKAFLDFYHSFLEKTAVLRVPVPPNVAFELDRTRADLISEDVQRRFVQEVVQSQQVAVGRQLEDFRSKRLMGMTPWEQELAQLEAWVG
RDRASYEARERHVAERLLMHLEEMQHTISTDEEKSAAVVNAIGLYMRHLGVRTKSGDKKSGRNFFRKKVMGNRRSDEPAKTKKGLSSILD
AARWNRGEPQVPDFRHLKAEVDAEKPGATDRKGGVGMPSRDRNIGAPGQDTPGVSLHPLSLDSPDREPGADAPLELGDSSPQGPMSLESL
APPESTDEGAETERAALASAHQCHPLPRTLSVLKSTPQVRGMHTIIRDKETSRDEFIFYSKRLMRLLIEHALSFLPFQDCVVQTPQGQDY
AGKCYAGKQITGVSILRAGETMEPALRAVCKDVRIGTILIQTNQLTGEPELHYLRLPKDISDDHVILMDCTVSTGAAAMMAVRVLLDHDV

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

>6261_6261_8_ARHGEF1-UCKL1_ARHGEF1_chr19_42400555_ENST00000354532_UCKL1_chr20_62572561_ENST00000369892_length(amino acids)=390AA_BP=
MEDFARGAASPGPSRPGLVPVSIIGAEDEDFENELETNSEEQNSQFQSLEQVKRRPAHLMALLQHVALQFEPGPLLCCLHADMLGSLGPK
EAKKAFLDFYHSFLEKTAVLRVPVPPNVAFELDRTRADLISEDVQRRFVQEVVQSQQVAVGRQLEDFRSKRLMGMTPWEQELAQLEAWVG
RDRASYEARERHVAERLLMHLEEMQHTISTDEEKSAAVVNAIGLYMRHLGVRTKSGDKKSGRNFFRKKVMGNRRSDEPAKTKKGLSSILD
AARWNRGEPQVPDFRHLKAEVDAEKPGATDRKGGVGMPSRDRNIGAPGQDTPGVSLHPLSLDSPDREPGADAPLELGDSSPQGPMSLESL

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

>6261_6261_9_ARHGEF1-UCKL1_ARHGEF1_chr19_42400555_ENST00000354532_UCKL1_chr20_62572561_ENST00000369908_length(amino acids)=614AA_BP=373
MEDFARGAASPGPSRPGLVPVSIIGAEDEDFENELETNSEEQNSQFQSLEQVKRRPAHLMALLQHVALQFEPGPLLCCLHADMLGSLGPK
EAKKAFLDFYHSFLEKTAVLRVPVPPNVAFELDRTRADLISEDVQRRFVQEVVQSQQVAVGRQLEDFRSKRLMGMTPWEQELAQLEAWVG
RDRASYEARERHVAERLLMHLEEMQHTISTDEEKSAAVVNAIGLYMRHLGVRTKSGDKKSGRNFFRKKVMGNRRSDEPAKTKKGLSSILD
AARWNRGEPQVPDFRHLKAEVDAEKPGATDRKGGVGMPSRDRNIGAPGQDTPGVSLHPLSLDSPDREPGADAPLELGDSSPQGPMSLESL
APPESTDEGAETERAALASAHQCHPLPRTLSVLKSTPQVRGMHTIIRDKETSRDEFIFYSKRLMRLLIEHALSFLPFQDCVVQTPQGQDY
AGKCYAGKQITGVSILRAGETMEPALRAVCKDVRIGTILIQTNQLTGEPELHYLRLPKDISDDHVILMDCTVSTGAAAMMAVRVLLDHDV

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

>6261_6261_10_ARHGEF1-UCKL1_ARHGEF1_chr19_42400555_ENST00000378152_UCKL1_chr20_62572561_ENST00000354216_length(amino acids)=596AA_BP=355
MASLSTWSSPAEPREMEDFARGAASPGPSRPGLVPVSIIGAEDEDFENELETNSEEQNSQFQSLEQVKRRPAHLMALLQHVALQFEPGPL
VLRVPVPPNVAFELDRTRADLISEDVQRRFVQEVVQSQQVAVGRQLEDFRSKRLMGMTPWEQELAQLEAWVGRDRASYEARERHVAERLL
MHLEEMQHTISTDEEKSAAVVNAIGLYMRHLGVRTKSGDKKSGRNFFRKKVMGNRRSDEPAKTKKGLSSILDAARWNRGEPQVPDFRHLK
AEVDAEKPGATDRKGGVGMPSRDRNIGAPGQDTPGVSLHPLSLDSPDREPGADAPLELGDSSPQGPMSLESLAPPESTDEGAETERAALA
SAHQCHPLPRTLSVLKSTPQVRGMHTIIRDKETSRDEFIFYSKRLMRLLIEHALSFLPFQDCVVQTPQGQDYAGKCYAGKQITGVSILRA
GETMEPALRAVCKDVRIGTILIQTNQLTGEPELHYLRLPKDISDDHVILMDCTVSTGAAAMMAVRVLLDHDVPEDKIFLLSLLMAEMGVH

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

>6261_6261_11_ARHGEF1-UCKL1_ARHGEF1_chr19_42400555_ENST00000378152_UCKL1_chr20_62572561_ENST00000369892_length(amino acids)=372AA_BP=
MASLSTWSSPAEPREMEDFARGAASPGPSRPGLVPVSIIGAEDEDFENELETNSEEQNSQFQSLEQVKRRPAHLMALLQHVALQFEPGPL
VLRVPVPPNVAFELDRTRADLISEDVQRRFVQEVVQSQQVAVGRQLEDFRSKRLMGMTPWEQELAQLEAWVGRDRASYEARERHVAERLL
MHLEEMQHTISTDEEKSAAVVNAIGLYMRHLGVRTKSGDKKSGRNFFRKKVMGNRRSDEPAKTKKGLSSILDAARWNRGEPQVPDFRHLK
AEVDAEKPGATDRKGGVGMPSRDRNIGAPGQDTPGVSLHPLSLDSPDREPGADAPLELGDSSPQGPMSLESLAPPESTDEGAETERELWR

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

>6261_6261_12_ARHGEF1-UCKL1_ARHGEF1_chr19_42400555_ENST00000378152_UCKL1_chr20_62572561_ENST00000369908_length(amino acids)=596AA_BP=355
MASLSTWSSPAEPREMEDFARGAASPGPSRPGLVPVSIIGAEDEDFENELETNSEEQNSQFQSLEQVKRRPAHLMALLQHVALQFEPGPL
VLRVPVPPNVAFELDRTRADLISEDVQRRFVQEVVQSQQVAVGRQLEDFRSKRLMGMTPWEQELAQLEAWVGRDRASYEARERHVAERLL
MHLEEMQHTISTDEEKSAAVVNAIGLYMRHLGVRTKSGDKKSGRNFFRKKVMGNRRSDEPAKTKKGLSSILDAARWNRGEPQVPDFRHLK
AEVDAEKPGATDRKGGVGMPSRDRNIGAPGQDTPGVSLHPLSLDSPDREPGADAPLELGDSSPQGPMSLESLAPPESTDEGAETERAALA
SAHQCHPLPRTLSVLKSTPQVRGMHTIIRDKETSRDEFIFYSKRLMRLLIEHALSFLPFQDCVVQTPQGQDYAGKCYAGKQITGVSILRA
GETMEPALRAVCKDVRIGTILIQTNQLTGEPELHYLRLPKDISDDHVILMDCTVSTGAAAMMAVRVLLDHDVPEDKIFLLSLLMAEMGVH

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

>6261_6261_13_ARHGEF1-UCKL1_ARHGEF1_chr19_42400555_ENST00000599846_UCKL1_chr20_62572561_ENST00000354216_length(amino acids)=614AA_BP=373
MEDFARGAASPGPSRPGLVPVSIIGAEDEDFENELETNSEEQNSQFQSLEQVKRRPAHLMALLQHVALQFEPGPLLCCLHADMLGSLGPK
EAKKAFLDFYHSFLEKTAVLRVPVPPNVAFELDRTRADLISEDVQRRFVQEVVQSQQVAVGRQLEDFRSKRLMGMTPWEQELAQLEAWVG
RDRASYEARERHVAERLLMHLEEMQHTISTDEEKSAAVVNAIGLYMRHLGVRTKSGDKKSGRNFFRKKVMGNRRSDEPAKTKKGLSSILD
AARWNRGEPQVPDFRHLKAEVDAEKPGATDRKGGVGMPSRDRNIGAPGQDTPGVSLHPLSLDSPDREPGADAPLELGDSSPQGPMSLESL
APPESTDEGAETERAALASAHQCHPLPRTLSVLKSTPQVRGMHTIIRDKETSRDEFIFYSKRLMRLLIEHALSFLPFQDCVVQTPQGQDY
AGKCYAGKQITGVSILRAGETMEPALRAVCKDVRIGTILIQTNQLTGEPELHYLRLPKDISDDHVILMDCTVSTGAAAMMAVRVLLDHDV

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

>6261_6261_14_ARHGEF1-UCKL1_ARHGEF1_chr19_42400555_ENST00000599846_UCKL1_chr20_62572561_ENST00000369892_length(amino acids)=390AA_BP=
MEDFARGAASPGPSRPGLVPVSIIGAEDEDFENELETNSEEQNSQFQSLEQVKRRPAHLMALLQHVALQFEPGPLLCCLHADMLGSLGPK
EAKKAFLDFYHSFLEKTAVLRVPVPPNVAFELDRTRADLISEDVQRRFVQEVVQSQQVAVGRQLEDFRSKRLMGMTPWEQELAQLEAWVG
RDRASYEARERHVAERLLMHLEEMQHTISTDEEKSAAVVNAIGLYMRHLGVRTKSGDKKSGRNFFRKKVMGNRRSDEPAKTKKGLSSILD
AARWNRGEPQVPDFRHLKAEVDAEKPGATDRKGGVGMPSRDRNIGAPGQDTPGVSLHPLSLDSPDREPGADAPLELGDSSPQGPMSLESL

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

>6261_6261_15_ARHGEF1-UCKL1_ARHGEF1_chr19_42400555_ENST00000599846_UCKL1_chr20_62572561_ENST00000369908_length(amino acids)=614AA_BP=373
MEDFARGAASPGPSRPGLVPVSIIGAEDEDFENELETNSEEQNSQFQSLEQVKRRPAHLMALLQHVALQFEPGPLLCCLHADMLGSLGPK
EAKKAFLDFYHSFLEKTAVLRVPVPPNVAFELDRTRADLISEDVQRRFVQEVVQSQQVAVGRQLEDFRSKRLMGMTPWEQELAQLEAWVG
RDRASYEARERHVAERLLMHLEEMQHTISTDEEKSAAVVNAIGLYMRHLGVRTKSGDKKSGRNFFRKKVMGNRRSDEPAKTKKGLSSILD
AARWNRGEPQVPDFRHLKAEVDAEKPGATDRKGGVGMPSRDRNIGAPGQDTPGVSLHPLSLDSPDREPGADAPLELGDSSPQGPMSLESL
APPESTDEGAETERAALASAHQCHPLPRTLSVLKSTPQVRGMHTIIRDKETSRDEFIFYSKRLMRLLIEHALSFLPFQDCVVQTPQGQDY
AGKCYAGKQITGVSILRAGETMEPALRAVCKDVRIGTILIQTNQLTGEPELHYLRLPKDISDDHVILMDCTVSTGAAAMMAVRVLLDHDV

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

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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/chr19:42400555/chr20:62572561)
- 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
ARHGEF1 Q8IW93	.
FUNCTION: Acts as guanine nucleotide exchange factor (GEF) for RhoA GTPase. {ECO:0000250}.	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

ARHGEF1

chr19:42400555

chr20:62572561

ENST00000337665

41_232

388.6666666666667

1029.3333333333333

Domain

Note=RGSL

Hgene

ARHGEF1

chr19:42400555

chr20:62572561

ENST00000347545

41_232

340.6666666666667

975.0

Domain

Note=RGSL

Hgene

ARHGEF1

chr19:42400555

chr20:62572561

ENST00000354532

41_232

373.6666666666667

983.0

Domain

Note=RGSL

- 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

ARHGEF1

chr19:42400555

chr20:62572561

ENST00000337665

865_896

388.6666666666667

1029.3333333333333

Coiled coil

Ontology_term=ECO:0000255

Hgene

ARHGEF1

chr19:42400555

chr20:62572561

ENST00000347545

865_896

340.6666666666667

975.0

Coiled coil

Ontology_term=ECO:0000255

Hgene

ARHGEF1

chr19:42400555

chr20:62572561

ENST00000354532

865_896

373.6666666666667

983.0

Coiled coil

Ontology_term=ECO:0000255

Hgene

ARHGEF1

chr19:42400555

chr20:62572561

ENST00000337665

416_605

388.6666666666667

1029.3333333333333

Domain

Hgene

ARHGEF1

chr19:42400555

chr20:62572561

ENST00000337665

647_760

388.6666666666667

1029.3333333333333

Domain

Hgene

ARHGEF1

chr19:42400555

chr20:62572561

ENST00000347545

416_605

340.6666666666667

975.0

Domain

Hgene

ARHGEF1

chr19:42400555

chr20:62572561

ENST00000347545

647_760

340.6666666666667

975.0

Domain

Hgene

ARHGEF1

chr19:42400555

chr20:62572561

ENST00000354532

416_605

373.6666666666667

983.0

Domain

Hgene

ARHGEF1

chr19:42400555

chr20:62572561

ENST00000354532

647_760

373.6666666666667

983.0

Domain

Tgene

UCKL1

chr19:42400555

chr20:62572561

ENST00000354216

105_112

307.6666666666667

549.0

Nucleotide binding

ATP

Tgene

UCKL1

chr19:42400555

chr20:62572561

ENST00000358711

105_112

302.0

412.6666666666667

Nucleotide binding

ATP

Tgene

UCKL1

chr19:42400555

chr20:62572561

ENST00000369908

105_112

292.6666666666667

534.0

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 >>>1321_ARHGEF1_42400555_UCKL1_62572561_1321_ARHGEF1_42400555_UCKL1_62572561_ranked_0.pdb	ARHGEF1	42400555	42400555	ENST00000369908	UCKL1	chr20	62572561	-	MASLSTWSSPAEPREMEDFARGAASPGPSRPGLVPVSIIGAEDEDFENELETNSEEQNSQFQSLEQVKRRPAHLMALLQHVALQFEPGPL LCCLHADMLGSLGPKEAKKAFLDFYHSFLEKTAVLRVPVPPNVAFELDRTRADLISEDVQRRFVQEVVQSQQVAVGRQLEDFRSKRLMGM TPWEQELAQLEAWVGRDRASYEARERHVAERLLMHLEEMQHTISTDEEKSAAVVNAIGLYMRHLGVRTKSGDKKSGRNFFRKKVMGNRRS DEPAKTKKGLSSILDAARWNRGEPQVPDFRHLKAEVDAEKPGATDRKGGVGMPSRDRNIGAPGQDTPGVSLHPLSLDSPDREPGADAPLE LGDSSPQGPMSLESLAPPESTDEGAETERAALASAHQCHPLPRTLSVLKSTPQVRGMHTIIRDKETSRDEFIFYSKRLMRLLIEHALSFL PFQDCVVQTPQGQDYAGKCYAGKQITGVSILRAGETMEPALRAVCKDVRIGTILIQTNQLTGEPELHYLRLPKDISDDHVILMDCTVSTG	629

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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.

ARHGEF1_pLDDT.png

UCKL1_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
ARHGEF1
UCKL1

- Retained interactions in fusion protein (protein functional feature from UniProt).

Partner

Gene

Hbp

Tbp

ENST

Strand

BPexon

TotalExon

Protein feature loci

*BPloci

TotalLen

Still interaction with

- Lost interactions due to fusion (protein functional feature from UniProt).

Partner

Gene

Hbp

Tbp

ENST

Strand

BPexon

TotalExon

Protein feature loci

*BPloci

TotalLen

Interaction lost with

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Related Drugs to ARHGEF1-UCKL1

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 ARHGEF1-UCKL1

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