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	Fusion Gene Summary
	Fusion Gene Sample Information
	Fusion ORF Analysis
	Fusion Amino Acid Sequences
	Fusion Protein Functional Features
	Fusion Protein-Protein Interaction
	Related drugs with this fusion protein
	Related disease with this fusion protein

Fusion Protein:UBAP2-MLH1

Fusion Protein Summary

Fusion gene summary

Fusion partner gene information	Fusion gene name: UBAP2-MLH1
	FusionPDB ID: 95937
	FusionGDB2.0 ID: 95937
		Hgene	Tgene
	Gene symbol	UBAP2	MLH1
	Gene ID	55833	4292
	Gene name	ubiquitin associated protein 2	mutL homolog 1
	Synonyms	UBAP-2	COCA2\|FCC2\|HNPCC\|HNPCC2\|hMLH1
	Cytomap	9p13.3	3p22.2
	Type of gene	protein-coding	protein-coding
	Description	ubiquitin-associated protein 2AD-012 protein	DNA mismatch repair protein Mlh1mutL homolog 1, colon cancer, nonpolyposis type 2
	Modification date	20200313	20200327
	UniProtAcc	.	P40692
Ensembl transtripts involved in fusion gene	ENST ids	ENST00000360802, ENST00000379238, ENST00000418786, ENST00000449054, ENST00000539807, ENST00000379239, ENST00000379225, ENST00000379235, ENST00000480885,	ENST00000492474, ENST00000231790, ENST00000435176, ENST00000455445, ENST00000458205, ENST00000536378, ENST00000539477,
Fusion gene scores for assessment (based on all fusion genes of FusionGDB 2.0)	* DoF score	17 X 13 X 10=2210	8 X 18 X 5=720
	# samples	19	20
	** MAII score	log2(19/2210*10)=-3.53997504594785 possibly effective Gene in Pan-Cancer Fusion Genes (peGinPCFGs). DoF>8 and MAII<0	log2(20/720*10)=-1.84799690655495 possibly effective Gene in Pan-Cancer Fusion Genes (peGinPCFGs). DoF>8 and MAII<0
Context (manual curation of fusion genes in FusionPDB)	PubMed: UBAP2 [Title/Abstract] AND MLH1 [Title/Abstract] AND fusion [Title/Abstract]
Most frequent breakpoint (based on all fusion genes of FusionGDB 2.0)	UBAP2(33998785)-MLH1(37067125), # samples:1
Anticipated loss of major functional domain due to fusion event.	UBAP2-MLH1 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. UBAP2-MLH1 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. UBAP2-MLH1 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. UBAP2-MLH1 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. UBAP2-MLH1 seems lost the major protein functional domain in Hgene partner, which is a essential gene due to the frame-shifted ORF. UBAP2-MLH1 seems lost the major protein functional domain in Tgene partner, which is a CGC due to the frame-shifted ORF. UBAP2-MLH1 seems lost the major protein functional domain in Tgene partner, which is a tumor suppressor 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 UBAP2 (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 MLH1 (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	DA038406	UBAP2	chr9	33998785	-	MLH1	chr3	37067125	+

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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)
ENST00000449054	UBAP2	chr9	33998785	-	ENST00000536378	MLH1	chr3	37067125	+	1617	279	87	1346	419
ENST00000449054	UBAP2	chr9	33998785	-	ENST00000231790	MLH1	chr3	37067125	+	1777	279	87	1511	474
ENST00000449054	UBAP2	chr9	33998785	-	ENST00000458205	MLH1	chr3	37067125	+	1705	279	87	1511	474
ENST00000449054	UBAP2	chr9	33998785	-	ENST00000539477	MLH1	chr3	37067125	+	1701	279	87	1511	474
ENST00000449054	UBAP2	chr9	33998785	-	ENST00000455445	MLH1	chr3	37067125	+	1565	279	87	1511	474
ENST00000449054	UBAP2	chr9	33998785	-	ENST00000435176	MLH1	chr3	37067125	+	1703	279	87	1511	474
ENST00000379238	UBAP2	chr9	33998785	-	ENST00000536378	MLH1	chr3	37067125	+	1633	295	103	1362	419
ENST00000379238	UBAP2	chr9	33998785	-	ENST00000231790	MLH1	chr3	37067125	+	1793	295	103	1527	474
ENST00000379238	UBAP2	chr9	33998785	-	ENST00000458205	MLH1	chr3	37067125	+	1721	295	103	1527	474
ENST00000379238	UBAP2	chr9	33998785	-	ENST00000539477	MLH1	chr3	37067125	+	1717	295	103	1527	474
ENST00000379238	UBAP2	chr9	33998785	-	ENST00000455445	MLH1	chr3	37067125	+	1581	295	103	1527	474
ENST00000379238	UBAP2	chr9	33998785	-	ENST00000435176	MLH1	chr3	37067125	+	1719	295	103	1527	474
ENST00000539807	UBAP2	chr9	33998785	-	ENST00000536378	MLH1	chr3	37067125	+	1657	319	238	1386	382
ENST00000539807	UBAP2	chr9	33998785	-	ENST00000231790	MLH1	chr3	37067125	+	1817	319	238	1551	437
ENST00000539807	UBAP2	chr9	33998785	-	ENST00000458205	MLH1	chr3	37067125	+	1745	319	238	1551	437
ENST00000539807	UBAP2	chr9	33998785	-	ENST00000539477	MLH1	chr3	37067125	+	1741	319	238	1551	437
ENST00000539807	UBAP2	chr9	33998785	-	ENST00000455445	MLH1	chr3	37067125	+	1605	319	238	1551	437
ENST00000539807	UBAP2	chr9	33998785	-	ENST00000435176	MLH1	chr3	37067125	+	1743	319	238	1551	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
ENST00000449054	ENST00000536378	UBAP2	chr9	33998785	-	MLH1	chr3	37067125	+	0.003206567	0.99679345
ENST00000449054	ENST00000231790	UBAP2	chr9	33998785	-	MLH1	chr3	37067125	+	0.001184469	0.99881554
ENST00000449054	ENST00000458205	UBAP2	chr9	33998785	-	MLH1	chr3	37067125	+	0.001511398	0.99848855
ENST00000449054	ENST00000539477	UBAP2	chr9	33998785	-	MLH1	chr3	37067125	+	0.001550238	0.9984497
ENST00000449054	ENST00000455445	UBAP2	chr9	33998785	-	MLH1	chr3	37067125	+	0.002787489	0.99721247
ENST00000449054	ENST00000435176	UBAP2	chr9	33998785	-	MLH1	chr3	37067125	+	0.001535947	0.9984641
ENST00000379238	ENST00000536378	UBAP2	chr9	33998785	-	MLH1	chr3	37067125	+	0.003090294	0.9969097
ENST00000379238	ENST00000231790	UBAP2	chr9	33998785	-	MLH1	chr3	37067125	+	0.001156037	0.9988439
ENST00000379238	ENST00000458205	UBAP2	chr9	33998785	-	MLH1	chr3	37067125	+	0.001475385	0.9985246
ENST00000379238	ENST00000539477	UBAP2	chr9	33998785	-	MLH1	chr3	37067125	+	0.00151162	0.9984883
ENST00000379238	ENST00000455445	UBAP2	chr9	33998785	-	MLH1	chr3	37067125	+	0.002717558	0.9972824
ENST00000379238	ENST00000435176	UBAP2	chr9	33998785	-	MLH1	chr3	37067125	+	0.001503062	0.9984969
ENST00000539807	ENST00000536378	UBAP2	chr9	33998785	-	MLH1	chr3	37067125	+	0.001892458	0.99810755
ENST00000539807	ENST00000231790	UBAP2	chr9	33998785	-	MLH1	chr3	37067125	+	0.000819979	0.99918
ENST00000539807	ENST00000458205	UBAP2	chr9	33998785	-	MLH1	chr3	37067125	+	0.001025793	0.9989742
ENST00000539807	ENST00000539477	UBAP2	chr9	33998785	-	MLH1	chr3	37067125	+	0.001050595	0.99894947
ENST00000539807	ENST00000455445	UBAP2	chr9	33998785	-	MLH1	chr3	37067125	+	0.001797706	0.9982023
ENST00000539807	ENST00000435176	UBAP2	chr9	33998785	-	MLH1	chr3	37067125	+	0.001039343	0.9989606

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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

>95937_95937_1_UBAP2-MLH1_UBAP2_chr9_33998785_ENST00000379238_MLH1_chr3_37067125_ENST00000231790_length(amino acids)=474AA_BP=63
MYILYMMTSVSSDHCRGAREKPQISAAQSTQPQKQVVQATAEQMRLAQVIFDKNDSDFEAKVKQTLLPGLAGPSGEMVKSTTSLTSSSTS
GSSDKVYAHQMVRTDSREQKLDAFLQPLSKPLSSQPQAIVTEDKTDISSGRARQQDEEMLELPAPAEVAAKNQSLEGDTTKGTSEMSEKR
GPTSSNPRKRHREDSDVEMVEDDSRKEMTAACTPRRRIINLTSVLSLQEEINEQGHEVLREMLHNHSFVGCVNPQWALAQHQTKLYLLNT
TKLSEELFYQILIYDFANFGVLRLSEPAPLFDLAMLALDSPESGWTEEDGPKEGLAEYIVEFLKKKAEMLADYFSLEIDEEGNLIGLPLL
IDNYVPPLEGLPIFILRLATEVNWDEEKECFESLSKECAMFYSIRKQYISEESTLSGQQSEVPGSIPNSWKWTVEHIVYKALRSHILPPK

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

>95937_95937_2_UBAP2-MLH1_UBAP2_chr9_33998785_ENST00000379238_MLH1_chr3_37067125_ENST00000435176_length(amino acids)=474AA_BP=63
MYILYMMTSVSSDHCRGAREKPQISAAQSTQPQKQVVQATAEQMRLAQVIFDKNDSDFEAKVKQTLLPGLAGPSGEMVKSTTSLTSSSTS
GSSDKVYAHQMVRTDSREQKLDAFLQPLSKPLSSQPQAIVTEDKTDISSGRARQQDEEMLELPAPAEVAAKNQSLEGDTTKGTSEMSEKR
GPTSSNPRKRHREDSDVEMVEDDSRKEMTAACTPRRRIINLTSVLSLQEEINEQGHEVLREMLHNHSFVGCVNPQWALAQHQTKLYLLNT
TKLSEELFYQILIYDFANFGVLRLSEPAPLFDLAMLALDSPESGWTEEDGPKEGLAEYIVEFLKKKAEMLADYFSLEIDEEGNLIGLPLL
IDNYVPPLEGLPIFILRLATEVNWDEEKECFESLSKECAMFYSIRKQYISEESTLSGQQSEVPGSIPNSWKWTVEHIVYKALRSHILPPK

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

>95937_95937_3_UBAP2-MLH1_UBAP2_chr9_33998785_ENST00000379238_MLH1_chr3_37067125_ENST00000455445_length(amino acids)=474AA_BP=63
MYILYMMTSVSSDHCRGAREKPQISAAQSTQPQKQVVQATAEQMRLAQVIFDKNDSDFEAKVKQTLLPGLAGPSGEMVKSTTSLTSSSTS
GSSDKVYAHQMVRTDSREQKLDAFLQPLSKPLSSQPQAIVTEDKTDISSGRARQQDEEMLELPAPAEVAAKNQSLEGDTTKGTSEMSEKR
GPTSSNPRKRHREDSDVEMVEDDSRKEMTAACTPRRRIINLTSVLSLQEEINEQGHEVLREMLHNHSFVGCVNPQWALAQHQTKLYLLNT
TKLSEELFYQILIYDFANFGVLRLSEPAPLFDLAMLALDSPESGWTEEDGPKEGLAEYIVEFLKKKAEMLADYFSLEIDEEGNLIGLPLL
IDNYVPPLEGLPIFILRLATEVNWDEEKECFESLSKECAMFYSIRKQYISEESTLSGQQSEVPGSIPNSWKWTVEHIVYKALRSHILPPK

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

>95937_95937_4_UBAP2-MLH1_UBAP2_chr9_33998785_ENST00000379238_MLH1_chr3_37067125_ENST00000458205_length(amino acids)=474AA_BP=63
MYILYMMTSVSSDHCRGAREKPQISAAQSTQPQKQVVQATAEQMRLAQVIFDKNDSDFEAKVKQTLLPGLAGPSGEMVKSTTSLTSSSTS
GSSDKVYAHQMVRTDSREQKLDAFLQPLSKPLSSQPQAIVTEDKTDISSGRARQQDEEMLELPAPAEVAAKNQSLEGDTTKGTSEMSEKR
GPTSSNPRKRHREDSDVEMVEDDSRKEMTAACTPRRRIINLTSVLSLQEEINEQGHEVLREMLHNHSFVGCVNPQWALAQHQTKLYLLNT
TKLSEELFYQILIYDFANFGVLRLSEPAPLFDLAMLALDSPESGWTEEDGPKEGLAEYIVEFLKKKAEMLADYFSLEIDEEGNLIGLPLL
IDNYVPPLEGLPIFILRLATEVNWDEEKECFESLSKECAMFYSIRKQYISEESTLSGQQSEVPGSIPNSWKWTVEHIVYKALRSHILPPK

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

>95937_95937_5_UBAP2-MLH1_UBAP2_chr9_33998785_ENST00000379238_MLH1_chr3_37067125_ENST00000536378_length(amino acids)=419AA_BP=63
MYILYMMTSVSSDHCRGAREKPQISAAQSTQPQKQVVQATAEQMRLAQVIFDKNDSDFEAKVKQTLLPGLAGPSGEMVKSTTSLTSSSTS
GSSDKVYAHQMVRTDSREQKLDAFLQPLSKPLSSQPQAIVTEDKTDISSGRARQQDEEMLELPAPAEVAAKNQSLEGDTTKGTSEMSEKR
GPTSSNPRKRHREDSDVEMVEDDSRKEMTAACTPRRRIINLTSVLSLQEEINEQGHEVLREMLHNHSFVGCVNPQWALAQHQTKLYLLNT
TKLSEELFYQILIYDFANFGVLRLSEPAPLFDLAMLALDSPESGWTEEDGPKEGLAEYIVEFLKKKAEMLADYFSLEIDEEGNLIGLPLL

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

>95937_95937_6_UBAP2-MLH1_UBAP2_chr9_33998785_ENST00000379238_MLH1_chr3_37067125_ENST00000539477_length(amino acids)=474AA_BP=63
MYILYMMTSVSSDHCRGAREKPQISAAQSTQPQKQVVQATAEQMRLAQVIFDKNDSDFEAKVKQTLLPGLAGPSGEMVKSTTSLTSSSTS
GSSDKVYAHQMVRTDSREQKLDAFLQPLSKPLSSQPQAIVTEDKTDISSGRARQQDEEMLELPAPAEVAAKNQSLEGDTTKGTSEMSEKR
GPTSSNPRKRHREDSDVEMVEDDSRKEMTAACTPRRRIINLTSVLSLQEEINEQGHEVLREMLHNHSFVGCVNPQWALAQHQTKLYLLNT
TKLSEELFYQILIYDFANFGVLRLSEPAPLFDLAMLALDSPESGWTEEDGPKEGLAEYIVEFLKKKAEMLADYFSLEIDEEGNLIGLPLL
IDNYVPPLEGLPIFILRLATEVNWDEEKECFESLSKECAMFYSIRKQYISEESTLSGQQSEVPGSIPNSWKWTVEHIVYKALRSHILPPK

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

>95937_95937_7_UBAP2-MLH1_UBAP2_chr9_33998785_ENST00000449054_MLH1_chr3_37067125_ENST00000231790_length(amino acids)=474AA_BP=63
MYILYMMTSVSSDHCRGAREKPQISAAQSTQPQKQVVQATAEQMRLAQVIFDKNDSDFEAKVKQTLLPGLAGPSGEMVKSTTSLTSSSTS
GSSDKVYAHQMVRTDSREQKLDAFLQPLSKPLSSQPQAIVTEDKTDISSGRARQQDEEMLELPAPAEVAAKNQSLEGDTTKGTSEMSEKR
GPTSSNPRKRHREDSDVEMVEDDSRKEMTAACTPRRRIINLTSVLSLQEEINEQGHEVLREMLHNHSFVGCVNPQWALAQHQTKLYLLNT
TKLSEELFYQILIYDFANFGVLRLSEPAPLFDLAMLALDSPESGWTEEDGPKEGLAEYIVEFLKKKAEMLADYFSLEIDEEGNLIGLPLL
IDNYVPPLEGLPIFILRLATEVNWDEEKECFESLSKECAMFYSIRKQYISEESTLSGQQSEVPGSIPNSWKWTVEHIVYKALRSHILPPK

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

>95937_95937_8_UBAP2-MLH1_UBAP2_chr9_33998785_ENST00000449054_MLH1_chr3_37067125_ENST00000435176_length(amino acids)=474AA_BP=63
MYILYMMTSVSSDHCRGAREKPQISAAQSTQPQKQVVQATAEQMRLAQVIFDKNDSDFEAKVKQTLLPGLAGPSGEMVKSTTSLTSSSTS
GSSDKVYAHQMVRTDSREQKLDAFLQPLSKPLSSQPQAIVTEDKTDISSGRARQQDEEMLELPAPAEVAAKNQSLEGDTTKGTSEMSEKR
GPTSSNPRKRHREDSDVEMVEDDSRKEMTAACTPRRRIINLTSVLSLQEEINEQGHEVLREMLHNHSFVGCVNPQWALAQHQTKLYLLNT
TKLSEELFYQILIYDFANFGVLRLSEPAPLFDLAMLALDSPESGWTEEDGPKEGLAEYIVEFLKKKAEMLADYFSLEIDEEGNLIGLPLL
IDNYVPPLEGLPIFILRLATEVNWDEEKECFESLSKECAMFYSIRKQYISEESTLSGQQSEVPGSIPNSWKWTVEHIVYKALRSHILPPK

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

>95937_95937_9_UBAP2-MLH1_UBAP2_chr9_33998785_ENST00000449054_MLH1_chr3_37067125_ENST00000455445_length(amino acids)=474AA_BP=63
MYILYMMTSVSSDHCRGAREKPQISAAQSTQPQKQVVQATAEQMRLAQVIFDKNDSDFEAKVKQTLLPGLAGPSGEMVKSTTSLTSSSTS
GSSDKVYAHQMVRTDSREQKLDAFLQPLSKPLSSQPQAIVTEDKTDISSGRARQQDEEMLELPAPAEVAAKNQSLEGDTTKGTSEMSEKR
GPTSSNPRKRHREDSDVEMVEDDSRKEMTAACTPRRRIINLTSVLSLQEEINEQGHEVLREMLHNHSFVGCVNPQWALAQHQTKLYLLNT
TKLSEELFYQILIYDFANFGVLRLSEPAPLFDLAMLALDSPESGWTEEDGPKEGLAEYIVEFLKKKAEMLADYFSLEIDEEGNLIGLPLL
IDNYVPPLEGLPIFILRLATEVNWDEEKECFESLSKECAMFYSIRKQYISEESTLSGQQSEVPGSIPNSWKWTVEHIVYKALRSHILPPK

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

>95937_95937_10_UBAP2-MLH1_UBAP2_chr9_33998785_ENST00000449054_MLH1_chr3_37067125_ENST00000458205_length(amino acids)=474AA_BP=63
MYILYMMTSVSSDHCRGAREKPQISAAQSTQPQKQVVQATAEQMRLAQVIFDKNDSDFEAKVKQTLLPGLAGPSGEMVKSTTSLTSSSTS
GSSDKVYAHQMVRTDSREQKLDAFLQPLSKPLSSQPQAIVTEDKTDISSGRARQQDEEMLELPAPAEVAAKNQSLEGDTTKGTSEMSEKR
GPTSSNPRKRHREDSDVEMVEDDSRKEMTAACTPRRRIINLTSVLSLQEEINEQGHEVLREMLHNHSFVGCVNPQWALAQHQTKLYLLNT
TKLSEELFYQILIYDFANFGVLRLSEPAPLFDLAMLALDSPESGWTEEDGPKEGLAEYIVEFLKKKAEMLADYFSLEIDEEGNLIGLPLL
IDNYVPPLEGLPIFILRLATEVNWDEEKECFESLSKECAMFYSIRKQYISEESTLSGQQSEVPGSIPNSWKWTVEHIVYKALRSHILPPK

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

>95937_95937_11_UBAP2-MLH1_UBAP2_chr9_33998785_ENST00000449054_MLH1_chr3_37067125_ENST00000536378_length(amino acids)=419AA_BP=63
MYILYMMTSVSSDHCRGAREKPQISAAQSTQPQKQVVQATAEQMRLAQVIFDKNDSDFEAKVKQTLLPGLAGPSGEMVKSTTSLTSSSTS
GSSDKVYAHQMVRTDSREQKLDAFLQPLSKPLSSQPQAIVTEDKTDISSGRARQQDEEMLELPAPAEVAAKNQSLEGDTTKGTSEMSEKR
GPTSSNPRKRHREDSDVEMVEDDSRKEMTAACTPRRRIINLTSVLSLQEEINEQGHEVLREMLHNHSFVGCVNPQWALAQHQTKLYLLNT
TKLSEELFYQILIYDFANFGVLRLSEPAPLFDLAMLALDSPESGWTEEDGPKEGLAEYIVEFLKKKAEMLADYFSLEIDEEGNLIGLPLL

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

>95937_95937_12_UBAP2-MLH1_UBAP2_chr9_33998785_ENST00000449054_MLH1_chr3_37067125_ENST00000539477_length(amino acids)=474AA_BP=63
MYILYMMTSVSSDHCRGAREKPQISAAQSTQPQKQVVQATAEQMRLAQVIFDKNDSDFEAKVKQTLLPGLAGPSGEMVKSTTSLTSSSTS
GSSDKVYAHQMVRTDSREQKLDAFLQPLSKPLSSQPQAIVTEDKTDISSGRARQQDEEMLELPAPAEVAAKNQSLEGDTTKGTSEMSEKR
GPTSSNPRKRHREDSDVEMVEDDSRKEMTAACTPRRRIINLTSVLSLQEEINEQGHEVLREMLHNHSFVGCVNPQWALAQHQTKLYLLNT
TKLSEELFYQILIYDFANFGVLRLSEPAPLFDLAMLALDSPESGWTEEDGPKEGLAEYIVEFLKKKAEMLADYFSLEIDEEGNLIGLPLL
IDNYVPPLEGLPIFILRLATEVNWDEEKECFESLSKECAMFYSIRKQYISEESTLSGQQSEVPGSIPNSWKWTVEHIVYKALRSHILPPK

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

>95937_95937_13_UBAP2-MLH1_UBAP2_chr9_33998785_ENST00000539807_MLH1_chr3_37067125_ENST00000231790_length(amino acids)=437AA_BP=26
MATAEQMRLAQVIFDKNDSDFEAKVKQTLLPGLAGPSGEMVKSTTSLTSSSTSGSSDKVYAHQMVRTDSREQKLDAFLQPLSKPLSSQPQ
AIVTEDKTDISSGRARQQDEEMLELPAPAEVAAKNQSLEGDTTKGTSEMSEKRGPTSSNPRKRHREDSDVEMVEDDSRKEMTAACTPRRR
IINLTSVLSLQEEINEQGHEVLREMLHNHSFVGCVNPQWALAQHQTKLYLLNTTKLSEELFYQILIYDFANFGVLRLSEPAPLFDLAMLA
LDSPESGWTEEDGPKEGLAEYIVEFLKKKAEMLADYFSLEIDEEGNLIGLPLLIDNYVPPLEGLPIFILRLATEVNWDEEKECFESLSKE

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

>95937_95937_14_UBAP2-MLH1_UBAP2_chr9_33998785_ENST00000539807_MLH1_chr3_37067125_ENST00000435176_length(amino acids)=437AA_BP=26
MATAEQMRLAQVIFDKNDSDFEAKVKQTLLPGLAGPSGEMVKSTTSLTSSSTSGSSDKVYAHQMVRTDSREQKLDAFLQPLSKPLSSQPQ
AIVTEDKTDISSGRARQQDEEMLELPAPAEVAAKNQSLEGDTTKGTSEMSEKRGPTSSNPRKRHREDSDVEMVEDDSRKEMTAACTPRRR
IINLTSVLSLQEEINEQGHEVLREMLHNHSFVGCVNPQWALAQHQTKLYLLNTTKLSEELFYQILIYDFANFGVLRLSEPAPLFDLAMLA
LDSPESGWTEEDGPKEGLAEYIVEFLKKKAEMLADYFSLEIDEEGNLIGLPLLIDNYVPPLEGLPIFILRLATEVNWDEEKECFESLSKE

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

>95937_95937_15_UBAP2-MLH1_UBAP2_chr9_33998785_ENST00000539807_MLH1_chr3_37067125_ENST00000455445_length(amino acids)=437AA_BP=26
MATAEQMRLAQVIFDKNDSDFEAKVKQTLLPGLAGPSGEMVKSTTSLTSSSTSGSSDKVYAHQMVRTDSREQKLDAFLQPLSKPLSSQPQ
AIVTEDKTDISSGRARQQDEEMLELPAPAEVAAKNQSLEGDTTKGTSEMSEKRGPTSSNPRKRHREDSDVEMVEDDSRKEMTAACTPRRR
IINLTSVLSLQEEINEQGHEVLREMLHNHSFVGCVNPQWALAQHQTKLYLLNTTKLSEELFYQILIYDFANFGVLRLSEPAPLFDLAMLA
LDSPESGWTEEDGPKEGLAEYIVEFLKKKAEMLADYFSLEIDEEGNLIGLPLLIDNYVPPLEGLPIFILRLATEVNWDEEKECFESLSKE

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

>95937_95937_16_UBAP2-MLH1_UBAP2_chr9_33998785_ENST00000539807_MLH1_chr3_37067125_ENST00000458205_length(amino acids)=437AA_BP=26
MATAEQMRLAQVIFDKNDSDFEAKVKQTLLPGLAGPSGEMVKSTTSLTSSSTSGSSDKVYAHQMVRTDSREQKLDAFLQPLSKPLSSQPQ
AIVTEDKTDISSGRARQQDEEMLELPAPAEVAAKNQSLEGDTTKGTSEMSEKRGPTSSNPRKRHREDSDVEMVEDDSRKEMTAACTPRRR
IINLTSVLSLQEEINEQGHEVLREMLHNHSFVGCVNPQWALAQHQTKLYLLNTTKLSEELFYQILIYDFANFGVLRLSEPAPLFDLAMLA
LDSPESGWTEEDGPKEGLAEYIVEFLKKKAEMLADYFSLEIDEEGNLIGLPLLIDNYVPPLEGLPIFILRLATEVNWDEEKECFESLSKE

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

>95937_95937_17_UBAP2-MLH1_UBAP2_chr9_33998785_ENST00000539807_MLH1_chr3_37067125_ENST00000536378_length(amino acids)=382AA_BP=26
MATAEQMRLAQVIFDKNDSDFEAKVKQTLLPGLAGPSGEMVKSTTSLTSSSTSGSSDKVYAHQMVRTDSREQKLDAFLQPLSKPLSSQPQ
AIVTEDKTDISSGRARQQDEEMLELPAPAEVAAKNQSLEGDTTKGTSEMSEKRGPTSSNPRKRHREDSDVEMVEDDSRKEMTAACTPRRR
IINLTSVLSLQEEINEQGHEVLREMLHNHSFVGCVNPQWALAQHQTKLYLLNTTKLSEELFYQILIYDFANFGVLRLSEPAPLFDLAMLA
LDSPESGWTEEDGPKEGLAEYIVEFLKKKAEMLADYFSLEIDEEGNLIGLPLLIDNYVPPLEGLPIFILRLATEVNWDEEKECFESLSKE

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

>95937_95937_18_UBAP2-MLH1_UBAP2_chr9_33998785_ENST00000539807_MLH1_chr3_37067125_ENST00000539477_length(amino acids)=437AA_BP=26
MATAEQMRLAQVIFDKNDSDFEAKVKQTLLPGLAGPSGEMVKSTTSLTSSSTSGSSDKVYAHQMVRTDSREQKLDAFLQPLSKPLSSQPQ
AIVTEDKTDISSGRARQQDEEMLELPAPAEVAAKNQSLEGDTTKGTSEMSEKRGPTSSNPRKRHREDSDVEMVEDDSRKEMTAACTPRRR
IINLTSVLSLQEEINEQGHEVLREMLHNHSFVGCVNPQWALAQHQTKLYLLNTTKLSEELFYQILIYDFANFGVLRLSEPAPLFDLAMLA
LDSPESGWTEEDGPKEGLAEYIVEFLKKKAEMLADYFSLEIDEEGNLIGLPLLIDNYVPPLEGLPIFILRLATEVNWDEEKECFESLSKE

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

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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/chr9:33998785/chr3:37067125)
- 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
.	MLH1 P40692
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: Heterodimerizes with PMS2 to form MutL alpha, a component of the post-replicative DNA mismatch repair system (MMR). DNA repair is initiated by MutS alpha (MSH2-MSH6) or MutS beta (MSH2-MSH3) binding to a dsDNA mismatch, then MutL alpha is recruited to the heteroduplex. Assembly of the MutL-MutS-heteroduplex ternary complex in presence of RFC and PCNA is sufficient to activate endonuclease activity of PMS2. It introduces single-strand breaks near the mismatch and thus generates new entry points for the exonuclease EXO1 to degrade the strand containing the mismatch. DNA methylation would prevent cleavage and therefore assure that only the newly mutated DNA strand is going to be corrected. MutL alpha (MLH1-PMS2) interacts physically with the clamp loader subunits of DNA polymerase III, suggesting that it may play a role to recruit the DNA polymerase III to the site of the MMR. Also implicated in DNA damage signaling, a process which induces cell cycle arrest and can lead to apoptosis in case of major DNA damages. Heterodimerizes with MLH3 to form MutL gamma which plays a role in meiosis. {ECO:0000269\|PubMed:16873062, ECO:0000269\|PubMed:18206974, ECO:0000269\|PubMed:20020535, ECO:0000269\|PubMed:21120944, ECO:0000269\|PubMed:9311737}.

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

- 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

UBAP2

chr9:33998785

chr3:37067125

ENST00000360802

105_130

59.0

1120.0

Coiled coil

Ontology_term=ECO:0000255

Hgene

UBAP2

chr9:33998785

chr3:37067125

ENST00000379238

105_130

59.0

1120.0

Coiled coil

Ontology_term=ECO:0000255

Hgene

UBAP2

chr9:33998785

chr3:37067125

ENST00000449054

105_130

59.0

1190.6666666666667

Coiled coil

Ontology_term=ECO:0000255

Hgene

UBAP2

chr9:33998785

chr3:37067125

ENST00000360802

48_92

59.0

1120.0

Domain

UBA

Hgene

UBAP2

chr9:33998785

chr3:37067125

ENST00000379238

48_92

59.0

1120.0

Domain

UBA

Hgene

UBAP2

chr9:33998785

chr3:37067125

ENST00000449054

48_92

59.0

1190.6666666666667

Domain

UBA

Tgene

MLH1

chr9:33998785

chr3:37067125

ENST00000231790

100_104

346.0

757.0

Nucleotide binding

ATP

Tgene

MLH1

chr9:33998785

chr3:37067125

ENST00000231790

82_84

346.0

757.0

Nucleotide binding

ATP

Tgene

MLH1

chr9:33998785

chr3:37067125

ENST00000435176

100_104

248.0

659.0

Nucleotide binding

ATP

Tgene

MLH1

chr9:33998785

chr3:37067125

ENST00000435176

82_84

248.0

659.0

Nucleotide binding

ATP

Tgene

MLH1

chr9:33998785

chr3:37067125

ENST00000455445

100_104

105.0

516.0

Nucleotide binding

ATP

Tgene

MLH1

chr9:33998785

chr3:37067125

ENST00000455445

82_84

105.0

516.0

Nucleotide binding

ATP

Tgene

MLH1

chr9:33998785

chr3:37067125

ENST00000458205

100_104

105.0

516.0

Nucleotide binding

ATP

Tgene

MLH1

chr9:33998785

chr3:37067125

ENST00000458205

82_84

105.0

516.0

Nucleotide binding

ATP

Tgene

MLH1

chr9:33998785

chr3:37067125

ENST00000539477

100_104

105.0

516.0

Nucleotide binding

ATP

Tgene

MLH1

chr9:33998785

chr3:37067125

ENST00000539477

82_84

105.0

516.0

Nucleotide binding

ATP

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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
UBAP2
MLH1

- 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 UBAP2-MLH1

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 UBAP2-MLH1

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