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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:SNX8-MAD1L1

Fusion Protein Summary

Fusion gene summary

Fusion partner gene information	Fusion gene name: SNX8-MAD1L1
	FusionPDB ID: 85038
	FusionGDB2.0 ID: 85038
		Hgene	Tgene
	Gene symbol	SNX8	MAD1L1
	Gene ID	29886	8379
	Gene name	sorting nexin 8	mitotic arrest deficient 1 like 1
	Synonyms	Mvp1	MAD1\|PIG9\|TP53I9\|TXBP181
	Cytomap	7p22.3	7p22.3
	Type of gene	protein-coding	protein-coding
	Description	sorting nexin-8	mitotic spindle assembly checkpoint protein MAD1MAD1 mitotic arrest deficient like 1MAD1-like protein 1mitotic arrest deficient 1-like protein 1mitotic checkpoint MAD1 protein homologmitotic-arrest deficient 1, yeast, homolog-like 1tax-binding prote
	Modification date	20200313	20200313
	UniProtAcc	.	Q9Y6D9
Ensembl transtripts involved in fusion gene	ENST ids	ENST00000222990,	ENST00000486340, ENST00000265854, ENST00000399654, ENST00000402746, ENST00000406869,
Fusion gene scores for assessment (based on all fusion genes of FusionGDB 2.0)	* DoF score	8 X 11 X 9=792	23 X 16 X 12=4416
	# samples	13	37
	** MAII score	log2(13/792*10)=-2.60698880705116 possibly effective Gene in Pan-Cancer Fusion Genes (peGinPCFGs). DoF>8 and MAII<0	log2(37/4416*10)=-3.57714299626186 possibly effective Gene in Pan-Cancer Fusion Genes (peGinPCFGs). DoF>8 and MAII<0
Context (manual curation of fusion genes in FusionPDB)	PubMed: SNX8 [Title/Abstract] AND MAD1L1 [Title/Abstract] AND fusion [Title/Abstract]
Most frequent breakpoint (based on all fusion genes of FusionGDB 2.0)	SNX8(2353962)-MAD1L1(2054277), # samples:2 SNX8(2353963)-MAD1L1(2108973), # samples:2
Anticipated loss of major functional domain due to fusion event.	SNX8-MAD1L1 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. SNX8-MAD1L1 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. SNX8-MAD1L1 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. SNX8-MAD1L1 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. SNX8-MAD1L1 seems lost the major protein functional domain in Hgene partner, which is a essential gene due to the frame-shifted ORF. SNX8-MAD1L1 seems lost the major protein functional domain in Tgene partner, which is a essential gene due to the frame-shifted ORF. SNX8-MAD1L1 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
Tgene	MAD1L1	GO:0007094	mitotic spindle assembly checkpoint	18981471
Tgene	MAD1L1	GO:0090235	regulation of metaphase plate congression	20133940

Fusion gene breakpoints across SNX8 (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 MAD1L1 (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	BLCA	TCGA-DK-A2I6-01A	SNX8	chr7	2317735	-	MAD1L1	chr7	2054277	-
ChimerDB4	BRCA	TCGA-BH-A0B6-01A	SNX8	chr7	2309194	-	MAD1L1	chr7	2041756	-
ChimerDB4	ESCA	TCGA-L5-A891	SNX8	chr7	2353962	-	MAD1L1	chr7	2054277	-
ChimerDB4	ESCA	TCGA-L5-A891	SNX8	chr7	2353963	-	MAD1L1	chr7	2054277	-
ChimerDB4	LUAD	TCGA-50-5946-01A	SNX8	chr7	2353963	-	MAD1L1	chr7	2188873	-
ChimerDB4	OV	TCGA-13-0923-01A	SNX8	chr7	2353963	-	MAD1L1	chr7	2108973	-
ChimerDB4	TGCT	TCGA-2G-AALP	SNX8	chr7	2353962	-	MAD1L1	chr7	2108973	-
ChimerDB4	TGCT	TCGA-2G-AALP	SNX8	chr7	2353963	-	MAD1L1	chr7	2108973	-

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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)
ENST00000222990	SNX8	chr7	2353962	-	ENST00000402746	MAD1L1	chr7	2054277	-	1352	137	47	1075	342
ENST00000222990	SNX8	chr7	2353962	-	ENST00000399654	MAD1L1	chr7	2054277	-	1352	137	47	1075	342
ENST00000222990	SNX8	chr7	2353962	-	ENST00000406869	MAD1L1	chr7	2054277	-	1352	137	47	1075	342
ENST00000222990	SNX8	chr7	2353962	-	ENST00000265854	MAD1L1	chr7	2054277	-	1335	137	47	1075	342
ENST00000222990	SNX8	chr7	2317735	-	ENST00000402746	MAD1L1	chr7	2054277	-	1558	343	43	1281	412
ENST00000222990	SNX8	chr7	2317735	-	ENST00000399654	MAD1L1	chr7	2054277	-	1558	343	43	1281	412
ENST00000222990	SNX8	chr7	2317735	-	ENST00000406869	MAD1L1	chr7	2054277	-	1558	343	43	1281	412
ENST00000222990	SNX8	chr7	2317735	-	ENST00000265854	MAD1L1	chr7	2054277	-	1541	343	43	1281	412
ENST00000222990	SNX8	chr7	2309194	-	ENST00000402746	MAD1L1	chr7	2041756	-	1738	664	43	1461	472
ENST00000222990	SNX8	chr7	2309194	-	ENST00000399654	MAD1L1	chr7	2041756	-	1738	664	43	1461	472
ENST00000222990	SNX8	chr7	2309194	-	ENST00000406869	MAD1L1	chr7	2041756	-	1738	664	43	1461	472
ENST00000222990	SNX8	chr7	2309194	-	ENST00000265854	MAD1L1	chr7	2041756	-	1721	664	43	1461	472
ENST00000222990	SNX8	chr7	2353963	-	ENST00000402746	MAD1L1	chr7	2054277	-	1352	137	47	1075	342
ENST00000222990	SNX8	chr7	2353963	-	ENST00000399654	MAD1L1	chr7	2054277	-	1352	137	47	1075	342
ENST00000222990	SNX8	chr7	2353963	-	ENST00000406869	MAD1L1	chr7	2054277	-	1352	137	47	1075	342
ENST00000222990	SNX8	chr7	2353963	-	ENST00000265854	MAD1L1	chr7	2054277	-	1335	137	47	1075	342

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
ENST00000222990	ENST00000402746	SNX8	chr7	2353962	-	MAD1L1	chr7	2054277	-	0.004674674	0.9953253
ENST00000222990	ENST00000399654	SNX8	chr7	2353962	-	MAD1L1	chr7	2054277	-	0.004674674	0.9953253
ENST00000222990	ENST00000406869	SNX8	chr7	2353962	-	MAD1L1	chr7	2054277	-	0.004674674	0.9953253
ENST00000222990	ENST00000265854	SNX8	chr7	2353962	-	MAD1L1	chr7	2054277	-	0.00434496	0.99565506
ENST00000222990	ENST00000402746	SNX8	chr7	2317735	-	MAD1L1	chr7	2054277	-	0.008354392	0.99164563
ENST00000222990	ENST00000399654	SNX8	chr7	2317735	-	MAD1L1	chr7	2054277	-	0.008354392	0.99164563
ENST00000222990	ENST00000406869	SNX8	chr7	2317735	-	MAD1L1	chr7	2054277	-	0.008354392	0.99164563
ENST00000222990	ENST00000265854	SNX8	chr7	2317735	-	MAD1L1	chr7	2054277	-	0.007810681	0.9921893
ENST00000222990	ENST00000402746	SNX8	chr7	2309194	-	MAD1L1	chr7	2041756	-	0.011290246	0.98870975
ENST00000222990	ENST00000399654	SNX8	chr7	2309194	-	MAD1L1	chr7	2041756	-	0.011290246	0.98870975
ENST00000222990	ENST00000406869	SNX8	chr7	2309194	-	MAD1L1	chr7	2041756	-	0.011290246	0.98870975
ENST00000222990	ENST00000265854	SNX8	chr7	2309194	-	MAD1L1	chr7	2041756	-	0.011115329	0.9888847
ENST00000222990	ENST00000402746	SNX8	chr7	2353963	-	MAD1L1	chr7	2054277	-	0.004674674	0.9953253
ENST00000222990	ENST00000399654	SNX8	chr7	2353963	-	MAD1L1	chr7	2054277	-	0.004674674	0.9953253
ENST00000222990	ENST00000406869	SNX8	chr7	2353963	-	MAD1L1	chr7	2054277	-	0.004674674	0.9953253
ENST00000222990	ENST00000265854	SNX8	chr7	2353963	-	MAD1L1	chr7	2054277	-	0.00434496	0.99565506

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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

>85038_85038_1_SNX8-MAD1L1_SNX8_chr7_2309194_ENST00000222990_MAD1L1_chr7_2041756_ENST00000265854_length(amino acids)=472AA_BP=0
MTGRAMDPLPAAAVGAAAEAEADEEADPPASDLPTPQAIEPQAIVQQVPAPSRMQMPQGNPLLLSHTLQELLARDTVQVELIPEKKGLFL
KHVEYEVSSQRFKSSVYRRYNDFVVFQEMLLHKFPYRMVPALPPKRMLGADREFIEARRRALKRFVNLVARHPLFSEDVVLKLFLSFSGS
DVQNKLKESAQCVGDEFLNCKLATRAKAQLSQALEELGGQKQRADMLEMELKMLKSQSSSAEQSFLFSREEADTLRLKVEELEGERSRLE
EEKRMLEAQLERRALQGDYDQSRTKVLHMSLNPTSVARQRLREDHSQLQAECERLRGLLRAMERGGTVPADLEAAAASLPSSKEVAELKK
QVESAELKNQRLKEVFQTKIQEFRKACYTLTGYQIDITTENQYRLTSLYAEHPGDCLIFKATSPSGSKMQLLETEFSHTVGELIEVHLRR

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

>85038_85038_2_SNX8-MAD1L1_SNX8_chr7_2309194_ENST00000222990_MAD1L1_chr7_2041756_ENST00000399654_length(amino acids)=472AA_BP=0
MTGRAMDPLPAAAVGAAAEAEADEEADPPASDLPTPQAIEPQAIVQQVPAPSRMQMPQGNPLLLSHTLQELLARDTVQVELIPEKKGLFL
KHVEYEVSSQRFKSSVYRRYNDFVVFQEMLLHKFPYRMVPALPPKRMLGADREFIEARRRALKRFVNLVARHPLFSEDVVLKLFLSFSGS
DVQNKLKESAQCVGDEFLNCKLATRAKAQLSQALEELGGQKQRADMLEMELKMLKSQSSSAEQSFLFSREEADTLRLKVEELEGERSRLE
EEKRMLEAQLERRALQGDYDQSRTKVLHMSLNPTSVARQRLREDHSQLQAECERLRGLLRAMERGGTVPADLEAAAASLPSSKEVAELKK
QVESAELKNQRLKEVFQTKIQEFRKACYTLTGYQIDITTENQYRLTSLYAEHPGDCLIFKATSPSGSKMQLLETEFSHTVGELIEVHLRR

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

>85038_85038_3_SNX8-MAD1L1_SNX8_chr7_2309194_ENST00000222990_MAD1L1_chr7_2041756_ENST00000402746_length(amino acids)=472AA_BP=0
MTGRAMDPLPAAAVGAAAEAEADEEADPPASDLPTPQAIEPQAIVQQVPAPSRMQMPQGNPLLLSHTLQELLARDTVQVELIPEKKGLFL
KHVEYEVSSQRFKSSVYRRYNDFVVFQEMLLHKFPYRMVPALPPKRMLGADREFIEARRRALKRFVNLVARHPLFSEDVVLKLFLSFSGS
DVQNKLKESAQCVGDEFLNCKLATRAKAQLSQALEELGGQKQRADMLEMELKMLKSQSSSAEQSFLFSREEADTLRLKVEELEGERSRLE
EEKRMLEAQLERRALQGDYDQSRTKVLHMSLNPTSVARQRLREDHSQLQAECERLRGLLRAMERGGTVPADLEAAAASLPSSKEVAELKK
QVESAELKNQRLKEVFQTKIQEFRKACYTLTGYQIDITTENQYRLTSLYAEHPGDCLIFKATSPSGSKMQLLETEFSHTVGELIEVHLRR

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

>85038_85038_4_SNX8-MAD1L1_SNX8_chr7_2309194_ENST00000222990_MAD1L1_chr7_2041756_ENST00000406869_length(amino acids)=472AA_BP=0
MTGRAMDPLPAAAVGAAAEAEADEEADPPASDLPTPQAIEPQAIVQQVPAPSRMQMPQGNPLLLSHTLQELLARDTVQVELIPEKKGLFL
KHVEYEVSSQRFKSSVYRRYNDFVVFQEMLLHKFPYRMVPALPPKRMLGADREFIEARRRALKRFVNLVARHPLFSEDVVLKLFLSFSGS
DVQNKLKESAQCVGDEFLNCKLATRAKAQLSQALEELGGQKQRADMLEMELKMLKSQSSSAEQSFLFSREEADTLRLKVEELEGERSRLE
EEKRMLEAQLERRALQGDYDQSRTKVLHMSLNPTSVARQRLREDHSQLQAECERLRGLLRAMERGGTVPADLEAAAASLPSSKEVAELKK
QVESAELKNQRLKEVFQTKIQEFRKACYTLTGYQIDITTENQYRLTSLYAEHPGDCLIFKATSPSGSKMQLLETEFSHTVGELIEVHLRR

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

>85038_85038_5_SNX8-MAD1L1_SNX8_chr7_2317735_ENST00000222990_MAD1L1_chr7_2054277_ENST00000265854_length(amino acids)=412AA_BP=0
MTGRAMDPLPAAAVGAAAEAEADEEADPPASDLPTPQAIEPQAIVQQVPAPSRMQMPQGNPLLLSHTLQELLARDTVQVELIPEKKGLFL
KHVEYEVSSQERDGMRAILGSYDSELTPAEYSPQLTRRMREAEDMVQKVHSHSAEMEAQLSQALEELGGQKQRADMLEMELKMLKSQSSS
AEQSFLFSREEADTLRLKVEELEGERSRLEEEKRMLEAQLERRALQGDYDQSRTKVLHMSLNPTSVARQRLREDHSQLQAECERLRGLLR
AMERGGTVPADLEAAAASLPSSKEVAELKKQVESAELKNQRLKEVFQTKIQEFRKACYTLTGYQIDITTENQYRLTSLYAEHPGDCLIFK

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

>85038_85038_6_SNX8-MAD1L1_SNX8_chr7_2317735_ENST00000222990_MAD1L1_chr7_2054277_ENST00000399654_length(amino acids)=412AA_BP=0
MTGRAMDPLPAAAVGAAAEAEADEEADPPASDLPTPQAIEPQAIVQQVPAPSRMQMPQGNPLLLSHTLQELLARDTVQVELIPEKKGLFL
KHVEYEVSSQERDGMRAILGSYDSELTPAEYSPQLTRRMREAEDMVQKVHSHSAEMEAQLSQALEELGGQKQRADMLEMELKMLKSQSSS
AEQSFLFSREEADTLRLKVEELEGERSRLEEEKRMLEAQLERRALQGDYDQSRTKVLHMSLNPTSVARQRLREDHSQLQAECERLRGLLR
AMERGGTVPADLEAAAASLPSSKEVAELKKQVESAELKNQRLKEVFQTKIQEFRKACYTLTGYQIDITTENQYRLTSLYAEHPGDCLIFK

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

>85038_85038_7_SNX8-MAD1L1_SNX8_chr7_2317735_ENST00000222990_MAD1L1_chr7_2054277_ENST00000402746_length(amino acids)=412AA_BP=0
MTGRAMDPLPAAAVGAAAEAEADEEADPPASDLPTPQAIEPQAIVQQVPAPSRMQMPQGNPLLLSHTLQELLARDTVQVELIPEKKGLFL
KHVEYEVSSQERDGMRAILGSYDSELTPAEYSPQLTRRMREAEDMVQKVHSHSAEMEAQLSQALEELGGQKQRADMLEMELKMLKSQSSS
AEQSFLFSREEADTLRLKVEELEGERSRLEEEKRMLEAQLERRALQGDYDQSRTKVLHMSLNPTSVARQRLREDHSQLQAECERLRGLLR
AMERGGTVPADLEAAAASLPSSKEVAELKKQVESAELKNQRLKEVFQTKIQEFRKACYTLTGYQIDITTENQYRLTSLYAEHPGDCLIFK

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

>85038_85038_8_SNX8-MAD1L1_SNX8_chr7_2317735_ENST00000222990_MAD1L1_chr7_2054277_ENST00000406869_length(amino acids)=412AA_BP=0
MTGRAMDPLPAAAVGAAAEAEADEEADPPASDLPTPQAIEPQAIVQQVPAPSRMQMPQGNPLLLSHTLQELLARDTVQVELIPEKKGLFL
KHVEYEVSSQERDGMRAILGSYDSELTPAEYSPQLTRRMREAEDMVQKVHSHSAEMEAQLSQALEELGGQKQRADMLEMELKMLKSQSSS
AEQSFLFSREEADTLRLKVEELEGERSRLEEEKRMLEAQLERRALQGDYDQSRTKVLHMSLNPTSVARQRLREDHSQLQAECERLRGLLR
AMERGGTVPADLEAAAASLPSSKEVAELKKQVESAELKNQRLKEVFQTKIQEFRKACYTLTGYQIDITTENQYRLTSLYAEHPGDCLIFK

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

>85038_85038_9_SNX8-MAD1L1_SNX8_chr7_2353962_ENST00000222990_MAD1L1_chr7_2054277_ENST00000265854_length(amino acids)=342AA_BP=1
MAARWTRCPRLQSGRQLRRRLTRRRIPRRQERDGMRAILGSYDSELTPAEYSPQLTRRMREAEDMVQKVHSHSAEMEAQLSQALEELGGQ
KQRADMLEMELKMLKSQSSSAEQSFLFSREEADTLRLKVEELEGERSRLEEEKRMLEAQLERRALQGDYDQSRTKVLHMSLNPTSVARQR
LREDHSQLQAECERLRGLLRAMERGGTVPADLEAAAASLPSSKEVAELKKQVESAELKNQRLKEVFQTKIQEFRKACYTLTGYQIDITTE

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

>85038_85038_10_SNX8-MAD1L1_SNX8_chr7_2353962_ENST00000222990_MAD1L1_chr7_2054277_ENST00000399654_length(amino acids)=342AA_BP=1
MAARWTRCPRLQSGRQLRRRLTRRRIPRRQERDGMRAILGSYDSELTPAEYSPQLTRRMREAEDMVQKVHSHSAEMEAQLSQALEELGGQ
KQRADMLEMELKMLKSQSSSAEQSFLFSREEADTLRLKVEELEGERSRLEEEKRMLEAQLERRALQGDYDQSRTKVLHMSLNPTSVARQR
LREDHSQLQAECERLRGLLRAMERGGTVPADLEAAAASLPSSKEVAELKKQVESAELKNQRLKEVFQTKIQEFRKACYTLTGYQIDITTE

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

>85038_85038_11_SNX8-MAD1L1_SNX8_chr7_2353962_ENST00000222990_MAD1L1_chr7_2054277_ENST00000402746_length(amino acids)=342AA_BP=1
MAARWTRCPRLQSGRQLRRRLTRRRIPRRQERDGMRAILGSYDSELTPAEYSPQLTRRMREAEDMVQKVHSHSAEMEAQLSQALEELGGQ
KQRADMLEMELKMLKSQSSSAEQSFLFSREEADTLRLKVEELEGERSRLEEEKRMLEAQLERRALQGDYDQSRTKVLHMSLNPTSVARQR
LREDHSQLQAECERLRGLLRAMERGGTVPADLEAAAASLPSSKEVAELKKQVESAELKNQRLKEVFQTKIQEFRKACYTLTGYQIDITTE

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

>85038_85038_12_SNX8-MAD1L1_SNX8_chr7_2353962_ENST00000222990_MAD1L1_chr7_2054277_ENST00000406869_length(amino acids)=342AA_BP=1
MAARWTRCPRLQSGRQLRRRLTRRRIPRRQERDGMRAILGSYDSELTPAEYSPQLTRRMREAEDMVQKVHSHSAEMEAQLSQALEELGGQ
KQRADMLEMELKMLKSQSSSAEQSFLFSREEADTLRLKVEELEGERSRLEEEKRMLEAQLERRALQGDYDQSRTKVLHMSLNPTSVARQR
LREDHSQLQAECERLRGLLRAMERGGTVPADLEAAAASLPSSKEVAELKKQVESAELKNQRLKEVFQTKIQEFRKACYTLTGYQIDITTE

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

>85038_85038_13_SNX8-MAD1L1_SNX8_chr7_2353963_ENST00000222990_MAD1L1_chr7_2054277_ENST00000265854_length(amino acids)=342AA_BP=1
MAARWTRCPRLQSGRQLRRRLTRRRIPRRQERDGMRAILGSYDSELTPAEYSPQLTRRMREAEDMVQKVHSHSAEMEAQLSQALEELGGQ
KQRADMLEMELKMLKSQSSSAEQSFLFSREEADTLRLKVEELEGERSRLEEEKRMLEAQLERRALQGDYDQSRTKVLHMSLNPTSVARQR
LREDHSQLQAECERLRGLLRAMERGGTVPADLEAAAASLPSSKEVAELKKQVESAELKNQRLKEVFQTKIQEFRKACYTLTGYQIDITTE

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

>85038_85038_14_SNX8-MAD1L1_SNX8_chr7_2353963_ENST00000222990_MAD1L1_chr7_2054277_ENST00000399654_length(amino acids)=342AA_BP=1
MAARWTRCPRLQSGRQLRRRLTRRRIPRRQERDGMRAILGSYDSELTPAEYSPQLTRRMREAEDMVQKVHSHSAEMEAQLSQALEELGGQ
KQRADMLEMELKMLKSQSSSAEQSFLFSREEADTLRLKVEELEGERSRLEEEKRMLEAQLERRALQGDYDQSRTKVLHMSLNPTSVARQR
LREDHSQLQAECERLRGLLRAMERGGTVPADLEAAAASLPSSKEVAELKKQVESAELKNQRLKEVFQTKIQEFRKACYTLTGYQIDITTE

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

>85038_85038_15_SNX8-MAD1L1_SNX8_chr7_2353963_ENST00000222990_MAD1L1_chr7_2054277_ENST00000402746_length(amino acids)=342AA_BP=1
MAARWTRCPRLQSGRQLRRRLTRRRIPRRQERDGMRAILGSYDSELTPAEYSPQLTRRMREAEDMVQKVHSHSAEMEAQLSQALEELGGQ
KQRADMLEMELKMLKSQSSSAEQSFLFSREEADTLRLKVEELEGERSRLEEEKRMLEAQLERRALQGDYDQSRTKVLHMSLNPTSVARQR
LREDHSQLQAECERLRGLLRAMERGGTVPADLEAAAASLPSSKEVAELKKQVESAELKNQRLKEVFQTKIQEFRKACYTLTGYQIDITTE

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

>85038_85038_16_SNX8-MAD1L1_SNX8_chr7_2353963_ENST00000222990_MAD1L1_chr7_2054277_ENST00000406869_length(amino acids)=342AA_BP=1
MAARWTRCPRLQSGRQLRRRLTRRRIPRRQERDGMRAILGSYDSELTPAEYSPQLTRRMREAEDMVQKVHSHSAEMEAQLSQALEELGGQ
KQRADMLEMELKMLKSQSSSAEQSFLFSREEADTLRLKVEELEGERSRLEEEKRMLEAQLERRALQGDYDQSRTKVLHMSLNPTSVARQR
LREDHSQLQAECERLRGLLRAMERGGTVPADLEAAAASLPSSKEVAELKKQVESAELKNQRLKEVFQTKIQEFRKACYTLTGYQIDITTE

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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/chr7:2353962/chr7:2054277)
- 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
.	MAD1L1 Q9Y6D9
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: Component of the spindle-assembly checkpoint that prevents the onset of anaphase until all chromosomes are properly aligned at the metaphase plate (PubMed:10049595, PubMed:20133940, PubMed:29162720). Forms a heterotetrameric complex with the closed conformation form of MAD2L1 (C-MAD2) at unattached kinetochores during prometaphase, recruits an open conformation of MAD2L1 (O-MAD2) and promotes the conversion of O-MAD2 to C-MAD2, which ensures mitotic checkpoint signaling (PubMed:29162720). {ECO:0000269\|PubMed:10049595, ECO:0000269\|PubMed:20133940, ECO:0000269\|PubMed:29162720}.

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

SNX8

chr7:2309194

chr7:2041756

ENST00000222990

73_181

207.0

466.0

Domain

- 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

SNX8

chr7:2317735

chr7:2054277

ENST00000222990

73_181

100.0

466.0

Domain

Hgene

SNX8

chr7:2353962

chr7:2054277

ENST00000222990

73_181

31.333333333333332

466.0

Domain

Hgene

SNX8

chr7:2353963

chr7:2054277

ENST00000222990

73_181

31.333333333333332

466.0

Domain

Tgene

MAD1L1

chr7:2309194

chr7:2041756

ENST00000265854

46_632

453.0

719.0

Coiled coil

Ontology_term=ECO:0000255

Tgene

MAD1L1

chr7:2309194

chr7:2041756

ENST00000399654

46_632

453.0

719.0

Coiled coil

Ontology_term=ECO:0000255

Tgene

MAD1L1

chr7:2309194

chr7:2041756

ENST00000406869

46_632

453.0

719.0

Coiled coil

Ontology_term=ECO:0000255

Tgene

MAD1L1

chr7:2317735

chr7:2054277

ENST00000265854

46_632

406.0

719.0

Coiled coil

Ontology_term=ECO:0000255

Tgene

MAD1L1

chr7:2317735

chr7:2054277

ENST00000399654

46_632

406.0

719.0

Coiled coil

Ontology_term=ECO:0000255

Tgene

MAD1L1

chr7:2317735

chr7:2054277

ENST00000406869

46_632

406.0

719.0

Coiled coil

Ontology_term=ECO:0000255

Tgene

MAD1L1

chr7:2353962

chr7:2054277

ENST00000265854

46_632

406.0

719.0

Coiled coil

Ontology_term=ECO:0000255

Tgene

MAD1L1

chr7:2353962

chr7:2054277

ENST00000399654

46_632

406.0

719.0

Coiled coil

Ontology_term=ECO:0000255

Tgene

MAD1L1

chr7:2353962

chr7:2054277

ENST00000406869

46_632

406.0

719.0

Coiled coil

Ontology_term=ECO:0000255

Tgene

MAD1L1

chr7:2353963

chr7:2054277

ENST00000265854

46_632

406.0

719.0

Coiled coil

Ontology_term=ECO:0000255

Tgene

MAD1L1

chr7:2353963

chr7:2054277

ENST00000399654

46_632

406.0

719.0

Coiled coil

Ontology_term=ECO:0000255

Tgene

MAD1L1

chr7:2353963

chr7:2054277

ENST00000406869

46_632

406.0

719.0

Coiled coil

Ontology_term=ECO:0000255

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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
SNX8
MAD1L1

- 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 SNX8-MAD1L1

Drugs used for this fusion-positive patient.
(Manual curation of PubMed, 04-30-2022 + MyCancerGenome)

Hgene

Tgene

Drug

Source

PMID

Top

Related Diseases to SNX8-MAD1L1

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