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	Fusion Gene Summary
	Fusion Gene ORF analysis
	Fusion Genomic Features
	Fusion Protein Features
	Fusion Gene Sequence
	Fusion Gene PPI analysis
	Related Drugs
	Related Diseases

Fusion gene:ATXN2-ADAM10 (FusionGDB2 ID:HG6311TG102)

Fusion Gene Summary for ATXN2-ADAM10

Fusion gene summary

Fusion gene information	Fusion gene name: ATXN2-ADAM10
	Fusion gene ID: hg6311tg102
		Hgene	Tgene
	Gene symbol	ATXN2	ADAM10
	Gene ID	6311	102
	Gene name	ataxin 2	ADAM metallopeptidase domain 10
	Synonyms	ATX2\|SCA2\|TNRC13	AD10\|AD18\|CD156c\|CDw156\|HsT18717\|MADM\|RAK\|kuz
	Cytomap	('ATXN2')('ADAM10') 12q24.12	15q21.3
	Type of gene	protein-coding	protein-coding
	Description	ataxin-2spinocerebellar ataxia type 2 proteintrinucleotide repeat-containing gene 13 protein	disintegrin and metalloproteinase domain-containing protein 10a disintegrin and metalloprotease domain 10kuzbanian protein homologmammalian disintegrin-metalloprotease
	Modification date	20200313	20200329
	UniProtAcc	.	.
	Ensembl transtripts involved in fusion gene	ENST00000377617, ENST00000389153, ENST00000535949, ENST00000542287, ENST00000550104, ENST00000608853, ENST00000549455,
Fusion gene scores	* DoF score	22 X 21 X 8=3696	12 X 10 X 8=960
	# samples	25	13
	** MAII score	log2(25/3696*10)=-3.88596475675397 possibly effective Gene in Pan-Cancer Fusion Genes (peGinPCFGs). DoF>8 and MAII<0	log2(13/960*10)=-2.88452278258006 possibly effective Gene in Pan-Cancer Fusion Genes (peGinPCFGs). DoF>8 and MAII<0
Context	PubMed: ATXN2 [Title/Abstract] AND ADAM10 [Title/Abstract] AND fusion [Title/Abstract]
Most frequent breakpoint	ATXN2(111947353)-ADAM10(58974513), # samples:1
Anticipated loss of major functional domain due to fusion event.	ATXN2-ADAM10 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. ATXN2-ADAM10 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. ATXN2-ADAM10 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. ATXN2-ADAM10 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. ATXN2-ADAM10 seems lost the major protein functional domain in Tgene partner, which is a IUPHAR drug target 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	ADAM10	GO:0006509	membrane protein ectodomain proteolysis	12714508\|17557115\|18355449\|18419754\|18676862\|19114711
Tgene	ADAM10	GO:0007162	negative regulation of cell adhesion	12714508
Tgene	ADAM10	GO:0034612	response to tumor necrosis factor	11831872
Tgene	ADAM10	GO:0051089	constitutive protein ectodomain proteolysis	12714508

Fusion gene breakpoints across ATXN2 (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 ADAM10 (3'-gene)
* Click on the image to open the UCSC genome browser with custom track showing this image in a new window.

Fusion gene information
* All genome coordinats were lifted-over on hg19.
* Click on the break point to see the gene structure around the break point region using the UCSC Genome Browser.

Source	Disease	Sample	Hgene	Hchr	Hbp	Hstrand	Tgene	Tchr	Tbp	Tstrand
ChimerDB4	PRAD	TCGA-V1-A9ZG-01A	ATXN2	chr12	111947353	-	ADAM10	chr15	58974513	-

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Fusion Gene ORF analysis for ATXN2-ADAM10

Open reading frame (ORF) analsis of fusion genes based on Ensembl gene isoform structure.
* Click on the break point to see the gene structure around the break point region using the UCSC Genome Browser.

ORF	Henst	Tenst	Hgene	Hchr	Hbp	Hstrand	Tgene	Tchr	Tbp	Tstrand
5CDS-5UTR	ENST00000377617	ENST00000558733	ATXN2	chr12	111947353	-	ADAM10	chr15	58974513	-
5CDS-5UTR	ENST00000389153	ENST00000558733	ATXN2	chr12	111947353	-	ADAM10	chr15	58974513	-
5CDS-5UTR	ENST00000535949	ENST00000558733	ATXN2	chr12	111947353	-	ADAM10	chr15	58974513	-
5CDS-5UTR	ENST00000542287	ENST00000558733	ATXN2	chr12	111947353	-	ADAM10	chr15	58974513	-
5CDS-5UTR	ENST00000550104	ENST00000558733	ATXN2	chr12	111947353	-	ADAM10	chr15	58974513	-
5CDS-5UTR	ENST00000608853	ENST00000558733	ATXN2	chr12	111947353	-	ADAM10	chr15	58974513	-
5CDS-intron	ENST00000377617	ENST00000396140	ATXN2	chr12	111947353	-	ADAM10	chr15	58974513	-
5CDS-intron	ENST00000377617	ENST00000402627	ATXN2	chr12	111947353	-	ADAM10	chr15	58974513	-
5CDS-intron	ENST00000377617	ENST00000561288	ATXN2	chr12	111947353	-	ADAM10	chr15	58974513	-
5CDS-intron	ENST00000389153	ENST00000396140	ATXN2	chr12	111947353	-	ADAM10	chr15	58974513	-
5CDS-intron	ENST00000389153	ENST00000402627	ATXN2	chr12	111947353	-	ADAM10	chr15	58974513	-
5CDS-intron	ENST00000389153	ENST00000561288	ATXN2	chr12	111947353	-	ADAM10	chr15	58974513	-
5CDS-intron	ENST00000535949	ENST00000396140	ATXN2	chr12	111947353	-	ADAM10	chr15	58974513	-
5CDS-intron	ENST00000535949	ENST00000402627	ATXN2	chr12	111947353	-	ADAM10	chr15	58974513	-
5CDS-intron	ENST00000535949	ENST00000561288	ATXN2	chr12	111947353	-	ADAM10	chr15	58974513	-
5CDS-intron	ENST00000542287	ENST00000396140	ATXN2	chr12	111947353	-	ADAM10	chr15	58974513	-
5CDS-intron	ENST00000542287	ENST00000402627	ATXN2	chr12	111947353	-	ADAM10	chr15	58974513	-
5CDS-intron	ENST00000542287	ENST00000561288	ATXN2	chr12	111947353	-	ADAM10	chr15	58974513	-
5CDS-intron	ENST00000550104	ENST00000396140	ATXN2	chr12	111947353	-	ADAM10	chr15	58974513	-
5CDS-intron	ENST00000550104	ENST00000402627	ATXN2	chr12	111947353	-	ADAM10	chr15	58974513	-
5CDS-intron	ENST00000550104	ENST00000561288	ATXN2	chr12	111947353	-	ADAM10	chr15	58974513	-
5CDS-intron	ENST00000608853	ENST00000396140	ATXN2	chr12	111947353	-	ADAM10	chr15	58974513	-
5CDS-intron	ENST00000608853	ENST00000402627	ATXN2	chr12	111947353	-	ADAM10	chr15	58974513	-
5CDS-intron	ENST00000608853	ENST00000561288	ATXN2	chr12	111947353	-	ADAM10	chr15	58974513	-
Frame-shift	ENST00000377617	ENST00000260408	ATXN2	chr12	111947353	-	ADAM10	chr15	58974513	-
Frame-shift	ENST00000389153	ENST00000260408	ATXN2	chr12	111947353	-	ADAM10	chr15	58974513	-
Frame-shift	ENST00000535949	ENST00000260408	ATXN2	chr12	111947353	-	ADAM10	chr15	58974513	-
Frame-shift	ENST00000542287	ENST00000260408	ATXN2	chr12	111947353	-	ADAM10	chr15	58974513	-
Frame-shift	ENST00000608853	ENST00000260408	ATXN2	chr12	111947353	-	ADAM10	chr15	58974513	-
In-frame	ENST00000550104	ENST00000260408	ATXN2	chr12	111947353	-	ADAM10	chr15	58974513	-
intron-3CDS	ENST00000549455	ENST00000260408	ATXN2	chr12	111947353	-	ADAM10	chr15	58974513	-
intron-5UTR	ENST00000549455	ENST00000558733	ATXN2	chr12	111947353	-	ADAM10	chr15	58974513	-
intron-intron	ENST00000549455	ENST00000396140	ATXN2	chr12	111947353	-	ADAM10	chr15	58974513	-
intron-intron	ENST00000549455	ENST00000402627	ATXN2	chr12	111947353	-	ADAM10	chr15	58974513	-
intron-intron	ENST00000549455	ENST00000561288	ATXN2	chr12	111947353	-	ADAM10	chr15	58974513	-

ORFfinder result based on the fusion transcript sequence of in-frame fusion genes.

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)

ENST00000550104

ATXN2

chr12

111947353

ENST00000260408

ADAM10

chr15

58974513

6961

2577

162

2621

819

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
ENST00000550104	ENST00000260408	ATXN2	chr12	111947353	-	ADAM10	chr15	58974513	-	0.000971116	0.9990289

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Fusion Genomic Features for ATXN2-ADAM10

FusionAI prediction of the potential fusion gene breakpoint based on the pre-mature RNA sequence context (+/- 5kb of individual partner genes, total 20kb length sequence). FusionAI is a fusion gene breakpoint classifier based on convolutional neural network by comparing the fusion positive and negative sequence context of ~ 20K fusion gene data. From here, we can have the relative potentency of the 20K genomic sequence how individual sequnce will be likely used as the gene fusion breakpoints.

Hgene

Hchr

Hbp

Hstrand

Tgene

Tchr

Tbp

Tstrand

1-p

p (fusion gene breakpoint)

Distribution of 44 human genomic features loci across 20kb length fusion breakpoint regions. We integrated a total of 44 different types of human genomic feature loci information across five big categories including virus integration sites, repeats, structural variants, chromatin states, and gene expression regulation. More details are in help page.

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Fusion Protein Features for ATXN2-ADAM10

Four levels of functional features of fusion genes
Go to FGviewer search page for the most frequent breakpoint (https://ccsmweb.uth.edu/FGviewer/chr12:111947353/chr15:58974513)
- FGviewer provides the online visualization of the retention search of the protein functional features across DNA, RNA, protein, and pathological levels.
- How to search
1. Put your fusion gene symbol.
2. Press the tab key until there will be shown the breakpoint information filled.
4. Go down and press 'Search' tab twice.
4. Go down to have the hyperlink of the search result.
5. Click the hyperlink.
6. See the FGviewer result for your fusion gene.

Main function of each fusion partner protein. (from UniProt)

Hgene	Tgene
.	.
FUNCTION: Transcriptional activator which is required for calcium-dependent dendritic growth and branching in cortical neurons. Recruits CREB-binding protein (CREBBP) to nuclear bodies. Component of the CREST-BRG1 complex, a multiprotein complex that regulates promoter activation by orchestrating a calcium-dependent release of a repressor complex and a recruitment of an activator complex. In resting neurons, transcription of the c-FOS promoter is inhibited by BRG1-dependent recruitment of a phospho-RB1-HDAC1 repressor complex. Upon calcium influx, RB1 is dephosphorylated by calcineurin, which leads to release of the repressor complex. At the same time, there is increased recruitment of CREBBP to the promoter by a CREST-dependent mechanism, which leads to transcriptional activation. The CREST-BRG1 complex also binds to the NR2B promoter, and activity-dependent induction of NR2B expression involves a release of HDAC1 and recruitment of CREBBP (By similarity). {ECO:0000250}.	FUNCTION: Transcriptional activator which is required for calcium-dependent dendritic growth and branching in cortical neurons. Recruits CREB-binding protein (CREBBP) to nuclear bodies. Component of the CREST-BRG1 complex, a multiprotein complex that regulates promoter activation by orchestrating a calcium-dependent release of a repressor complex and a recruitment of an activator complex. In resting neurons, transcription of the c-FOS promoter is inhibited by BRG1-dependent recruitment of a phospho-RB1-HDAC1 repressor complex. Upon calcium influx, RB1 is dephosphorylated by calcineurin, which leads to release of the repressor complex. At the same time, there is increased recruitment of CREBBP to the promoter by a CREST-dependent mechanism, which leads to transcriptional activation. The CREST-BRG1 complex also binds to the NR2B promoter, and activity-dependent induction of NR2B expression involves a release of HDAC1 and recruitment of CREBBP (By similarity). {ECO:0000250}.

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.

- In-frame and 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

ATXN2

chr12:111947353

chr15:58974513

ENST00000377617

166_187

805

1314.0

Compositional bias

Note=Poly-Gln

Hgene

ATXN2

chr12:111947353

chr15:58974513

ENST00000377617

213_223

805

1314.0

Compositional bias

Note=Poly-Ser

Hgene

ATXN2

chr12:111947353

chr15:58974513

ENST00000377617

47_158

805

1314.0

Compositional bias

Note=Pro-rich

Hgene

ATXN2

chr12:111947353

chr15:58974513

ENST00000377617

551_734

805

1314.0

Compositional bias

Note=Pro-rich

Hgene

ATXN2

chr12:111947353

chr15:58974513

ENST00000377617

55_64

805

1314.0

Compositional bias

Note=Poly-Pro

Hgene

ATXN2

chr12:111947353

chr15:58974513

ENST00000550104

166_187

805

1015.3333333333334

Compositional bias

Note=Poly-Gln

Hgene

ATXN2

chr12:111947353

chr15:58974513

ENST00000550104

213_223

805

1015.3333333333334

Compositional bias

Note=Poly-Ser

Hgene

ATXN2

chr12:111947353

chr15:58974513

ENST00000550104

47_158

805

1015.3333333333334

Compositional bias

Note=Pro-rich

Hgene

ATXN2

chr12:111947353

chr15:58974513

ENST00000550104

551_734

805

1015.3333333333334

Compositional bias

Note=Pro-rich

Hgene

ATXN2

chr12:111947353

chr15:58974513

ENST00000550104

55_64

805

1015.3333333333334

Compositional bias

Note=Poly-Pro

Tgene

ADAM10

chr12:111947353

chr15:58974513

ENST00000260408

555_673

749.0

Compositional bias

Cys-rich

Tgene

ADAM10

chr12:111947353

chr15:58974513

ENST00000260408

220_456

749.0

Domain

Peptidase M12B

Tgene

ADAM10

chr12:111947353

chr15:58974513

ENST00000260408

457_551

749.0

Domain

Disintegrin

Tgene

ADAM10

chr12:111947353

chr15:58974513

ENST00000260408

171_178

749.0

Motif

Cysteine switch

Tgene

ADAM10

chr12:111947353

chr15:58974513

ENST00000260408

708_715

749.0

Motif

SH3-binding

Tgene

ADAM10

chr12:111947353

chr15:58974513

ENST00000260408

722_728

749.0

Motif

SH3-binding

Tgene

ADAM10

chr12:111947353

chr15:58974513

ENST00000260408

694_748

749.0

Topological domain

Cytoplasmic

Tgene

ADAM10

chr12:111947353

chr15:58974513

ENST00000260408

673_693

749.0

Transmembrane

Helical

- In-frame and 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

ATXN2

chr12:111947353

chr15:58974513

ENST00000377617

929_1085

805

1314.0

Compositional bias

Note=Pro-rich

Hgene

ATXN2

chr12:111947353

chr15:58974513

ENST00000550104

929_1085

805

1015.3333333333334

Compositional bias

Note=Pro-rich

Tgene

ADAM10

chr12:111947353

chr15:58974513

ENST00000260408

20_672

749.0

Topological domain

Extracellular

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Fusion Gene Sequence for ATXN2-ADAM10

For in-frame fusion transcripts, we provide the fusion transcript sequences and fusion amino acid sequences. To have fusion amino acid sequence, we ran ORFfinder and chose the longest ORF among the all predicted ones.

>8414_8414_1_ATXN2-ADAM10_ATXN2_chr12_111947353_ENST00000550104_ADAM10_chr15_58974513_ENST00000260408_length(transcript)=6961nt_BP=2577nt
ACCCCCGAGAAAGCAACCCAGCGCGCCGCCCGCTCCTCACGTGTCCCTCCCGGCCCCGGGGCCACCTCACGTTCTGCTTCCGTCTGACCC
CTCCGACTTCCGGTAAAGAGTCCCTATCCGCACCTCCGCTCCCACCCGGCGCCTCGGCGCGCCCGCCCTCCGATGCGCTCAGCGGCCGCA
GCTCCTCGGAGTCCCGCGGTGGCCACCGAGTCTCGCCGCTTCGCCGCAGCCAGGTGGCCCGGGTGGCGCTCGCTCCAGCGGCCGGCGCGG
CGGAGCGGGCGGGGCGGCGGTGGCGCGGCCCCGGGACCGTATCCCTCCGCCGCCCCTCCCCCGCCCGGCCCCGGCCCCCCTCCCTCCCGG
CAGAGCTCGCCTCCCTCCGCCTCAGACTGTTTTGGTAGCAACGGCAACGGCGGCGGCGCGTTTCGGCCCGGCTCCCGGCGGCTCCTTGGT
CTCGGCGGGCCTCCCCGCCCCTTCGTCGTCCTCCTTCTCCCCCTCGCCAGCCCGGGCGCCCCTCCGGCCGCGCCAACCCGCGCCTCCCCG
CTCGGCGCCCGCGCGTCCCCGCCGCGTTCCGGCGTCTCCTTGGCGCGCCCGGCTCCCGGCTGTCCCCGCCCGGCGTGCGAGCCGGTGTAT
GGGCCCCTCACCATGTCGCTGAAGCCCCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAACAGCAGCAGCAGCAGCAGCAG
CAGCAGCCGCCGCCCGCGGCTGCCAATGTCCGCAAGCCCGGCGGCAGCGGCCTTCTAGCGTCGCCCGCCGCCGCGCCTTCGCCGTCCTCG
TCCTCGGTCTCCTCGTCCTCGGCCACGGCTCCCTCCTCGGTGGTCGCGGCGACCTCCGGCGGCGGGAGGCCCGGCCTGGGCAGAGGTCGA
AACAGTAACAAAGGACTGCCTCAGTCTACGATTTCTTTTGATGGAATCTATGCAAATATGAGGATGGTTCATATACTTACATCAGTTGTT
GGCTCCAAATGTGAAGTACAAGTGAAAAATGGAGGTATATATGAAGGAGTTTTTAAAACTTACAGTCCGAAGTGTGATTTGGTACTTGAT
GCCGCACATGAGAAAAGTACAGAATCCAGTTCGGGGCCGAAACGTGAAGAAATAATGGAGAGTATTTTGTTCAAATGTTCAGACTTTGTT
GTGGTACAGTTTAAAGATATGGACTCCAGTTATGCAAAAAGAGATGCTTTTACTGACTCTGCTATCAGTGCTAAAGTGAATGGCGAACAC
AAAGAGAAGGACCTGGAGCCCTGGGATGCAGGTGAACTCACAGCCAATGAGGAACTTGAGGCTTTGGAAAATGACGTATCTAATGGATGG
GATCCCAATGATATGTTTCGATATAATGAAGAAAATTATGGTGTAGTGTCTACGTATGATAGCAGTTTATCTTCGTATACAGTGCCCTTA
GAAAGAGATAACTCAGAAGAATTTTTAAAACGGGAAGCAAGGGCAAACCAGTTAGCAGAAGAAATTGAGTCAAGTGCCCAGTACAAAGCT
CGAGTGGCCCTGGAAAATGATGATAGGAGTGAGGAAGAAAAATACACAGCAGTTCAGAGAAATTCCAGTGAACGTGAGGGGCACAGCATA
AACACTAGGGAAAATAAATATATTCCTCCTGGACAAAGAAATAGAGAAGTCATATCCTGGGGAAGTGGGAGACAGAATTCACCGCGTATG
GGCCAGCCTGGATCGGGCTCCATGCCATCAAGATCCACTTCTCACACTTCAGATTTCAACCCGAATTCTGGTTCAGACCAAAGAGTAGTT
AATGGAGGTGTTCCCTGGCCATCGCCTTGCCCATCTCCTTCCTCTCGCCCACCTTCTCGCTACCAGTCAGGTCCCAACTCTCTTCCACCT
CGGGCAGCCACCCCTACACGGCCGCCCTCCAGGCCCCCCTCGCGGCCATCCAGACCCCCGTCTCACCCCTCTGCTCATGGTTCTCCAGCT
CCTGTCTCTACTATGCCTAAACGCATGTCTTCAGAAGGGCCTCCAAGGATGTCCCCAAAGGCCCAGCGACATCCTCGAAATCACAGAGTT
TCTGCTGGGAGGGGTTCCATATCCAGTGGCCTAGAATTTGTATCCCACAACCCACCCAGTGAAGCAGCTACTCCTCCAGTAGCAAGGACC
AGTCCCTCGGGGGGAACGTGGTCATCAGTGGTCAGTGGGGTTCCAAGATTATCCCCTAAAACTCATAGACCCAGGTCTCCCAGACAGAAC
AGTATTGGAAATACCCCCAGTGGGCCAGTTCTTGCTTCTCCCCAAGCTGGTATTATTCCAACTGAAGCTGTTGCCATGCCTATTCCAGCT
GCATCTCCTACGCCTGCTAGTCCTGCATCGAACAGAGCTGTTACCCCTTCTAGTGAGGCTAAAGATTCCAGGCTTCAAGATCAGAGGCAG
AACTCTCCTGCAGGGAATAAAGAAAATATTAAACCCAATGAAACATCACCTAGCTTCTCAAAAGCTGAAAACAAAGGTATATCACCAGTT
GTTTCTGAACATAGAAAACAGATTGATGATTTAAAGAAATTTAAGAATGATTTTAGGACATTTCAACCTACGAATGAAGAGGGACACTTC
CCTTTTCAGTGATGAATTTAAAGTAGAAACATCAAATAAAGTACTTGATTATGATACCTCTCATATTTACACTGGACATATTTATGGTGA
AGAAGGAAGTTTTAGCCATGGGTCTGTTATTGATGGAAGATTTGAAGGATTCATCCAGACTCGTGGTGGCACATTTTATGTTGAGCCAGC
AGAGAGATATATTAAAGACCGAACTCTGCCATTTCACTCTGTCATTTATCATGAAGATGATATTAACTATCCCCATAAATACGGTCCTCA
GGGGGGCTGTGCAGATCATTCAGTATTTGAAAGAATGAGGAAATACCAGATGACTGGTGTAGAGGAAGTAACACAGATACCTCAAGAAGA
ACATGCTGCTAATGGTCCAGAACTTCTGAGGAAAAAACGTACAACTTCAGCTGAAAAAAATACTTGTCAGCTTTATATTCAGACTGATCA
TTTGTTCTTTAAATATTACGGAACACGAGAAGCTGTGATTGCCCAGATATCCAGTCATGTTAAAGCGATTGATACAATTTACCAGACCAC
AGACTTCTCCGGAATCCGTAACATCAGTTTCATGGTGAAACGCATAAGAATCAATACAACTGCTGATGAGAAGGACCCTACAAATCCTTT
CCGTTTCCCAAATATTGGTGTGGAGAAGTTTCTGGAATTGAATTCTGAGCAGAATCATGATGACTACTGTTTGGCCTATGTCTTCACAGA
CCGAGATTTTGATGATGGCGTACTTGGTCTGGCTTGGGTTGGAGCACCTTCAGGAAGCTCTGGAGGAATATGTGAAAAAAGTAAACTCTA
TTCAGATGGTAAGAAGAAGTCCTTAAACACTGGAATTATTACTGTTCAGAACTATGGGTCTCATGTACCTCCCAAAGTCTCTCACATTAC
TTTTGCTCACGAAGTTGGACATAACTTTGGATCCCCACATGATTCTGGAACAGAGTGCACACCAGGAGAATCTAAGAATTTGGGTCAAAA
AGAAAATGGCAATTACATCATGTATGCAAGAGCAACATCTGGGGACAAACTTAACAACAATAAATTCTCACTCTGTAGTATTAGAAATAT
AAGCCAAGTTCTTGAGAAGAAGAGAAACAACTGTTTTGTTGAATCTGGCCAACCTATTTGTGGAAATGGAATGGTAGAACAAGGTGAAGA
ATGTGATTGTGGCTATAGTGACCAGTGTAAAGATGAATGCTGCTTCGATGCAAATCAACCAGAGGGAAGAAAATGCAAACTGAAACCTGG
GAAACAGTGCAGTCCAAGTCAAGGTCCTTGTTGTACAGCACAGTGTGCATTCAAGTCAAAGTCTGAGAAGTGTCGGGATGATTCAGACTG
TGCAAGGGAAGGAATATGTAATGGCTTCACAGCTCTCTGCCCAGCATCTGACCCTAAACCAAACTTCACAGACTGTAATAGGCATACACA
AGTGTGCATTAATGGGCAATGTGCAGGTTCTATCTGTGAGAAATATGGCTTAGAGGAGTGTACGTGTGCCAGTTCTGATGGCAAAGATGA
TAAAGAATTATGCCATGTATGCTGTATGAAGAAAATGGACCCATCAACTTGTGCCAGTACAGGGTCTGTGCAGTGGAGTAGGCACTTCAG
TGGTCGAACCATCACCCTGCAACCTGGATCCCCTTGCAACGATTTTAGAGGTTACTGTGATGTTTTCATGCGGTGCAGATTAGTAGATGC
TGATGGTCCTCTAGCTAGGCTTAAAAAAGCAATTTTTAGTCCAGAGCTCTATGAAAACATTGCTGAATGGATTGTGGCTCATTGGTGGGC
AGTATTACTTATGGGAATTGCTCTGATCATGCTAATGGCTGGATTTATTAAGATATGCAGTGTTCATACTCCAAGTAGTAATCCAAAGTT
GCCTCCTCCTAAACCACTTCCAGGCACTTTAAAGAGGAGGAGACCTCCACAGCCCATTCAGCAACCCCAGCGTCAGCGGCCCCGAGAGAG
TTATCAAATGGGACACATGAGACGCTAACTGCAGCTTTTGCCTTGGTTCTTCCTAGTGCCTACAATGGGAAAACTTCACTCCAAAGAGAA
ACCTATTAAGTCATCATCTCCAAACTAAACCCTCACAAGTAACAGTTGAAGAAAAAATGGCAAGAGATCATATCCTCAGACCAGGTGGAA
TTACTTAAATTTTAAAGCCTGAAAATTCCAATTTGGGGGTGGGAGGTGGAAAAGGAACCCAATTTTCTTATGAACAGATATTTTTAACTT
AATGGCACAAAGTCTTAGAATATTATTATGTGCCCCGTGTTCCCTGTTCTTCGTTGCTGCATTTTCTTCACTTGCAGGCAAACTTGGCTC
TCAATAAACTTTTACCACAAATTGAAATAAATATATTTTTTTCAACTGCCAATCAAGGCTAGGAGGCTCGACCACCTCAACATTGGAGAC
ATCACTTGCCAATGTACATACCTTGTTATATGCAGACATGTATTTCTTACGTACACTGTACTTCTGTGTGCAATTGTAAACAGAAATTGC
AATATGGATGTTTCTTTGTATTATAAAATTTTTCCGCTCTTAATTAAAAATTACTGTTTAATTGACATACTCAGGATAACAGAGAATGGT
GGTATTCAGTGGTCCAGGATTCTGTAATGCTTTACACAGGCAGTTTTGAAATGAAAATCAATTTACCTTTCTGTTACGATGGAGTTGGTT
TTGATACTCATTTTTTCTTTATCACATGGCTGCTACGGGCACAAGTGACTATACTGAAGAACACAGTTAAGTGTTGTGCAAACTGGACAT
AGCAGCACATACTACTTCAGAGTTCATGATGTAGATGTCTGGTTTCTGCTTACGTCTTTTAAACTTTCTAATTCAATTCCATTTTTCAAT
TAATAGGTGAAATTTTATTCATGCTTTGATAGAAATTATGTCAATGAAATGATTCTTTTTATTTGTAGCCTACTTATTTGTGTTTTTCAT
ATATCTGAAATATGCTAATTATGTTTTCTGTCTGATATGGAAAAGAAAAGCTGTGTCTTTATCAAAATATTTAAACGGTTTTTTCAGCAT
ATCATCACTGATCATTGGTAACCACTAAAGATGAGTAATTTGCTTAAGTAGTAGTTAAAATTGTAGATAGGCCTTCTGACATTTTTTTTC
CTAAAATTTTTAACAGCATTGAAGGTGAAACAGCACAATGTCCCATTCCAAATTTATTTTTGAAACAGATGTAAATAATTGGCATTTTAA
AGAGAAAGCAAAAACATTTAATGTATTAACAGGCTTATTGCTATGCAGGAAATAGAAGGGGCATTACAAAAATTGAAGCTTGTGACATAT
TTATTGCTTCTGTTTTCCAACTACATCACTTCAACTAGAAGTAAAGCTATGATTTTCCTGACTTCACATAGGAGGCAAATTTAGAGAAAG
TTGTAAAGATTTCTATGTTTTGGGTTTTTTTTTTTCCTTTTTTTTTTTAAGAGTATAAGGTTTACACAATCATTCTCATAATGTGACGCA
AGCCAGCAAGGCCAAAAATGCTAGAGAAAATAACGGGATCTCTTCCTTGTAAACTTGTACAGTATGTGGTGACTTTTTCAAAATACAGCT
TTTTGTACATGATTTAGAGACAAATTTTGTACATGAAACCCCAGATAGACTATAAATAATTCTAAACAAACAAGTAGGTAGATATGTATG
TAATTGCTTTTAAATCATTTAAATGCCTTTGTTTTTGGACTGTGCAAAGGTTGGAAGTGGGTTTGCATTTCTAAAATGGTGACTTTTATT
CTGCAAGAGTTCTTAGTAACTTCTTGAGTGTGGTAGACTTTGGAACATGTAAATTTTTTGCTTGTAATGTTATCCTGTGGTAGGATTTTG
GCAGGTACACACACTGCCCTATTTTATTTTGAGTCTAAGTTAAATGTTTTCTGAAAAGAGATACATGCACTGAACTCTTTCCACTGCGAA
TCAAGATGTGGTAATATAAAAGGATCAAGACAAATGAGATCTAATACTACTGTCAGTTTTAATGTCCACTGTGTTTTATACAGTATCTTT
TTTTGTTCACTTTGGAAATTTTTACTAAAAATTGCAAAAAATAAAGTATTGTGCAAAGATGTAAGGTTTTTTGAAACTTGAAATGCATTA
ATAAATAGACGATTAAATCAACTTGAAGGTTCTATACTCTTTGAACTCTGAGAACTATCACAAGAAGCTTCCCACAAGGCAGTGTTTTCT
TACAGTTGTCTCTTCCTACAAAAGTATAGATTATCTTTATTCTTAATACTTTGGAATCCATGTAGAAAATTTCCAGTTAGATACTCTGCG

>8414_8414_1_ATXN2-ADAM10_ATXN2_chr12_111947353_ENST00000550104_ADAM10_chr15_58974513_ENST00000260408_length(amino acids)=819AA_BP=
MRSAAAAPRSPAVATESRRFAAARWPGWRSLQRPARRSGRGGGGAAPGPYPSAAPPPPGPGPPPSRQSSPPSASDCFGSNGNGGGAFRPG
SRRLLGLGGPPRPFVVLLLPLASPGAPPAAPTRASPLGARASPPRSGVSLARPAPGCPRPACEPVYGPLTMSLKPQQQQQQQQQQQQQQQ
QQQQQQQQPPPAAANVRKPGGSGLLASPAAAPSPSSSSVSSSSATAPSSVVAATSGGGRPGLGRGRNSNKGLPQSTISFDGIYANMRMVH
ILTSVVGSKCEVQVKNGGIYEGVFKTYSPKCDLVLDAAHEKSTESSSGPKREEIMESILFKCSDFVVVQFKDMDSSYAKRDAFTDSAISA
KVNGEHKEKDLEPWDAGELTANEELEALENDVSNGWDPNDMFRYNEENYGVVSTYDSSLSSYTVPLERDNSEEFLKREARANQLAEEIES
SAQYKARVALENDDRSEEEKYTAVQRNSSEREGHSINTRENKYIPPGQRNREVISWGSGRQNSPRMGQPGSGSMPSRSTSHTSDFNPNSG
SDQRVVNGGVPWPSPCPSPSSRPPSRYQSGPNSLPPRAATPTRPPSRPPSRPSRPPSHPSAHGSPAPVSTMPKRMSSEGPPRMSPKAQRH
PRNHRVSAGRGSISSGLEFVSHNPPSEAATPPVARTSPSGGTWSSVVSGVPRLSPKTHRPRSPRQNSIGNTPSGPVLASPQAGIIPTEAV
AMPIPAASPTPASPASNRAVTPSSEAKDSRLQDQRQNSPAGNKENIKPNETSPSFSKAENKGISPVVSEHRKQIDDLKKFKNDFRTFQPT

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Fusion Gene PPI Analysis for ATXN2-ADAM10

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 (BIOGRID-3.4.160)

Hgene

Hgene's interactors

Tgene

Tgene's interactors

- Retained PPIs in in-frame fusion.

Partner	Gene	Hbp	Tbp	ENST	Strand	BPexon	TotalExon	Protein feature loci	*BPloci	TotalLen	Still interaction with
Tgene	ADAM10	chr12:111947353	chr15:58974513	ENST00000260408		1	16	734_748	68.66666666666667	749.0	AP2A1%2C AP2A2 and AP2M1

- Lost PPIs in in-frame fusion.

Partner

Gene

Hbp

Tbp

ENST

Strand

BPexon

TotalExon

Protein feature loci

*BPloci

TotalLen

Interaction lost with

- Retained PPIs, but lost function due to frame-shift fusion.

Partner

Gene

Hbp

Tbp

ENST

Strand

BPexon

TotalExon

Protein feature loci

*BPloci

TotalLen

Interaction lost with

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Related Drugs for ATXN2-ADAM10

Drugs targeting genes involved in this fusion gene.
(DrugBank Version 5.1.8 2021-05-08)

Partner

Gene

UniProtAcc

DrugBank ID

Drug name

Drug activity

Drug type

Drug status

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Related Diseases for ATXN2-ADAM10

Diseases associated with fusion partners.
(DisGeNet 4.0)

Partner	Gene	Disease ID	Disease name	# pubmeds	Source
Hgene	ATXN2	C0752121	Spinocerebellar Ataxia Type 2	3	CTD_human;GENOMICS_ENGLAND;ORPHANET
Hgene	ATXN2	C0002736	Amyotrophic Lateral Sclerosis	2	CTD_human;ORPHANET
Hgene	ATXN2	C0087012	Ataxia, Spinocerebellar	2	CTD_human
Hgene	ATXN2	C0752120	Spinocerebellar Ataxia Type 1	2	CTD_human
Hgene	ATXN2	C0752122	Spinocerebellar Ataxia Type 4	2	CTD_human
Hgene	ATXN2	C0752123	Spinocerebellar Ataxia Type 5	2	CTD_human
Hgene	ATXN2	C0752124	Spinocerebellar Ataxia Type 6 (disorder)	2	CTD_human
Hgene	ATXN2	C0752125	Spinocerebellar Ataxia Type 7	2	CTD_human
Hgene	ATXN2	C0017612	Glaucoma, Open-Angle	1	CTD_human
Hgene	ATXN2	C0036341	Schizophrenia	1	PSYGENET
Hgene	ATXN2	C0271148	Secondary Open Angle Glaucoma	1	CTD_human
Hgene	ATXN2	C0339573	Glaucoma, Primary Open Angle	1	CTD_human
Hgene	ATXN2	C0393554	Amyotrophic Lateral Sclerosis With Dementia	1	CTD_human
Hgene	ATXN2	C0543859	Amyotrophic Lateral Sclerosis, Guam Form	1	CTD_human
Tgene		C3810041	ALZHEIMER DISEASE 18	2	CTD_human;UNIPROT
Tgene		C0002395	Alzheimer's Disease	1	CTD_human
Tgene		C0006142	Malignant neoplasm of breast	1	CTD_human
Tgene		C0011265	Presenile dementia	1	CTD_human
Tgene		C0276496	Familial Alzheimer Disease (FAD)	1	CTD_human
Tgene		C0406811	Reticulate acropigmentation of Kitamura	1	CTD_human;GENOMICS_ENGLAND;ORPHANET;UNIPROT
Tgene		C0494463	Alzheimer Disease, Late Onset	1	CTD_human
Tgene		C0546126	Acute Confusional Senile Dementia	1	CTD_human
Tgene		C0678222	Breast Carcinoma	1	CTD_human
Tgene		C0750900	Alzheimer's Disease, Focal Onset	1	CTD_human
Tgene		C0750901	Alzheimer Disease, Early Onset	1	CTD_human
Tgene		C1257931	Mammary Neoplasms, Human	1	CTD_human
Tgene		C1458155	Mammary Neoplasms	1	CTD_human
Tgene		C4704874	Mammary Carcinoma, Human	1	CTD_human

Fusion Gene Studies in Kim Lab

Fusion gene:ATXN2-ADAM10 (FusionGDB2 ID:HG6311TG102)

Fusion Gene Summary for ATXN2-ADAM10

Fusion Gene ORF analysis for ATXN2-ADAM10

Fusion Genomic Features for ATXN2-ADAM10

Fusion Protein Features for ATXN2-ADAM10

Fusion Gene Sequence for ATXN2-ADAM10

Fusion Gene PPI Analysis for ATXN2-ADAM10

Related Drugs for ATXN2-ADAM10

Related Diseases for ATXN2-ADAM10

Fusion Gene Studies
in Kim Lab