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Center for Computational Systems Medicine
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Fusion Gene Summary

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Fusion Gene ORF analysis

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Fusion Genomic Features

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Fusion Protein Features

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Fusion Gene Sequence

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Fusion Gene PPI analysis

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Related Drugs

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Related Diseases

Fusion gene:C9orf96-SQSTM1 (FusionGDB2 ID:HG169436TG8878)

Fusion Gene Summary for C9orf96-SQSTM1

check button Fusion gene summary
Fusion gene informationFusion gene name: C9orf96-SQSTM1
Fusion gene ID: hg169436tg8878
HgeneTgene
Gene symbol

C9orf96

SQSTM1

Gene ID

169436

8878

Gene nameserine/threonine kinase like domain containing 1sequestosome 1
SynonymsC9orf96|SgK071|Sk521A170|DMRV|FTDALS3|NADGP|OSIL|PDB3|ZIP3|p60|p62|p62B
Cytomap('C9orf96')('SQSTM1')

9q34.2

5q35.3

Type of geneprotein-codingprotein-coding
Descriptionserine/threonine kinase-like domain-containing protein STKLD1probable inactive protein kinase-like protein SgK071serine/threonine kinase-like domain-containing protein 1sugen kinase 071sequestosome-1EBI3-associated protein of 60 kDaEBI3-associated protein p60EBIAPautophagy receptor p62oxidative stress induced likephosphotyrosine independent ligand for the Lck SH2 domain p62phosphotyrosine-independent ligand for the Lck SH2 domain
Modification date2020031320200327
UniProtAcc.

Q13501

Ensembl transtripts involved in fusion geneENST00000371957, ENST00000426926, 
ENST00000371955, ENST00000468046, 
Fusion gene scores* DoF score2 X 2 X 2=833 X 21 X 17=11781
# samples 238
** MAII scorelog2(2/8*10)=1.32192809488736log2(38/11781*10)=-4.95431877505661
possibly effective Gene in Pan-Cancer Fusion Genes (peGinPCFGs).
DoF>8 and MAII<0
Context

PubMed: C9orf96 [Title/Abstract] AND SQSTM1 [Title/Abstract] AND fusion [Title/Abstract]

Most frequent breakpointC9orf96(136253332)-SQSTM1(179263436), # samples:1
Anticipated loss of major functional domain due to fusion event.C9orf96-SQSTM1 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.
C9orf96-SQSTM1 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.
C9orf96-SQSTM1 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.
C9orf96-SQSTM1 seems lost the major protein functional domain in Hgene partner, which is a essential gene by not retaining the major functional domain in the partially deleted in-frame ORF.
* DoF score (Degree of Frequency) = # partners X # break points X # cancer types
** MAII score (Major Active Isofusion Index) = log2(# samples/DoF score*10)

check button Gene ontology of each fusion partner gene with evidence of Inferred from Direct Assay (IDA) from Entrez
PartnerGeneGO IDGO termPubMed ID
TgeneSQSTM1

GO:0006914

autophagy

20452972

TgeneSQSTM1

GO:0007032

endosome organization

27368102

TgeneSQSTM1

GO:0031397

negative regulation of protein ubiquitination

20452972

TgeneSQSTM1

GO:0061635

regulation of protein complex stability

25127057

TgeneSQSTM1

GO:1905719

protein localization to perinuclear region of cytoplasm

27368102


check buttonFusion gene breakpoints across C9orf96 (5'-gene)
* Click on the image to open the UCSC genome browser with custom track showing this image in a new window.
all structure
check buttonFusion gene breakpoints across SQSTM1 (3'-gene)
* Click on the image to open the UCSC genome browser with custom track showing this image in a new window.
all structure

check button 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.
SourceDiseaseSampleHgeneHchrHbpHstrandTgeneTchrTbpTstrand
ChimerDB4GBMTCGA-02-2486-01AC9orf96chr9

136253332

+SQSTM1chr5

179263436

+


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Fusion Gene ORF analysis for C9orf96-SQSTM1

check button 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.
ORFHenstTenstHgeneHchrHbpHstrandTgeneTchrTbpTstrand
5CDS-intronENST00000371957ENST00000360718C9orf96chr9

136253332

+SQSTM1chr5

179263436

+
5CDS-intronENST00000371957ENST00000389805C9orf96chr9

136253332

+SQSTM1chr5

179263436

+
5CDS-intronENST00000371957ENST00000402874C9orf96chr9

136253332

+SQSTM1chr5

179263436

+
5CDS-intronENST00000371957ENST00000506690C9orf96chr9

136253332

+SQSTM1chr5

179263436

+
5CDS-intronENST00000371957ENST00000510187C9orf96chr9

136253332

+SQSTM1chr5

179263436

+
5CDS-intronENST00000426926ENST00000360718C9orf96chr9

136253332

+SQSTM1chr5

179263436

+
5CDS-intronENST00000426926ENST00000389805C9orf96chr9

136253332

+SQSTM1chr5

179263436

+
5CDS-intronENST00000426926ENST00000402874C9orf96chr9

136253332

+SQSTM1chr5

179263436

+
5CDS-intronENST00000426926ENST00000506690C9orf96chr9

136253332

+SQSTM1chr5

179263436

+
5CDS-intronENST00000426926ENST00000510187C9orf96chr9

136253332

+SQSTM1chr5

179263436

+
5UTR-3CDSENST00000371955ENST00000376929C9orf96chr9

136253332

+SQSTM1chr5

179263436

+
5UTR-intronENST00000371955ENST00000360718C9orf96chr9

136253332

+SQSTM1chr5

179263436

+
5UTR-intronENST00000371955ENST00000389805C9orf96chr9

136253332

+SQSTM1chr5

179263436

+
5UTR-intronENST00000371955ENST00000402874C9orf96chr9

136253332

+SQSTM1chr5

179263436

+
5UTR-intronENST00000371955ENST00000506690C9orf96chr9

136253332

+SQSTM1chr5

179263436

+
5UTR-intronENST00000371955ENST00000510187C9orf96chr9

136253332

+SQSTM1chr5

179263436

+
In-frameENST00000371957ENST00000376929C9orf96chr9

136253332

+SQSTM1chr5

179263436

+
In-frameENST00000426926ENST00000376929C9orf96chr9

136253332

+SQSTM1chr5

179263436

+
intron-3CDSENST00000468046ENST00000376929C9orf96chr9

136253332

+SQSTM1chr5

179263436

+
intron-intronENST00000468046ENST00000360718C9orf96chr9

136253332

+SQSTM1chr5

179263436

+
intron-intronENST00000468046ENST00000389805C9orf96chr9

136253332

+SQSTM1chr5

179263436

+
intron-intronENST00000468046ENST00000402874C9orf96chr9

136253332

+SQSTM1chr5

179263436

+
intron-intronENST00000468046ENST00000506690C9orf96chr9

136253332

+SQSTM1chr5

179263436

+
intron-intronENST00000468046ENST00000510187C9orf96chr9

136253332

+SQSTM1chr5

179263436

+

check buttonORFfinder result based on the fusion transcript sequence of in-frame fusion genes.
HenstTenstHgeneHchrHbpHstrandTgeneTchrTbpTstrandSeq length
(transcript)		BP loci
(transcript)		Predicted start
(transcript)		Predicted stop
(transcript)		Seq length
(amino acids)
ENST00000426926C9orf96chr9136253332+ENST00000376929SQSTM1chr5179263436+226462484641185
ENST00000371957C9orf96chr9136253332+ENST00000376929SQSTM1chr5179263436+214350320061458182

check buttonDeepORF 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.
HenstTenstHgeneHchrHbpHstrandTgeneTchrTbpTstrandNo-coding scoreCoding score
ENST00000426926ENST00000376929C9orf96chr9136253332+SQSTM1chr5179263436+0.031581720.9684183
ENST00000371957ENST00000376929C9orf96chr9136253332+SQSTM1chr5179263436+0.030364490.96963555

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Fusion Genomic Features for C9orf96-SQSTM1


check buttonFusionAI 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.
HgeneHchrHbpHstrandTgeneTchrTbpTstrand1-pp (fusion gene breakpoint)
C9orf96chr9136253332+SQSTM1chr5179263435+4.98E-091
C9orf96chr9136253332+SQSTM1chr5179263435+4.98E-091

check buttonDistribution 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.
genomic feature

check buttonDistribution of 44 human genomic features loci across 20kb length fusion breakpoint regions that are ovelapped with the top 1% feature importance score regions. More details are in help page.
genomic feature of top 1%

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Fusion Protein Features for C9orf96-SQSTM1


check button Four levels of functional features of fusion genes
Go to FGviewer search page for the most frequent breakpoint (https://ccsmweb.uth.edu/FGviewer/chr9:136253332/chr5:179263436)
- 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.
FGviewer

check buttonMain function of each fusion partner protein. (from UniProt)
HgeneTgene
.SQSTM1

Q13501

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: Autophagy receptor required for selective macroautophagy (aggrephagy). Functions as a bridge between polyubiquitinated cargo and autophagosomes. Interacts directly with both the cargo to become degraded and an autophagy modifier of the MAP1 LC3 family (PubMed:16286508, PubMed:20168092, PubMed:24128730, PubMed:28404643, PubMed:22622177). Along with WDFY3, involved in the formation and autophagic degradation of cytoplasmic ubiquitin-containing inclusions (p62 bodies, ALIS/aggresome-like induced structures). Along with WDFY3, required to recruit ubiquitinated proteins to PML bodies in the nucleus (PubMed:24128730, PubMed:20168092). May regulate the activation of NFKB1 by TNF-alpha, nerve growth factor (NGF) and interleukin-1. May play a role in titin/TTN downstream signaling in muscle cells. May regulate signaling cascades through ubiquitination. Adapter that mediates the interaction between TRAF6 and CYLD (By similarity). May be involved in cell differentiation, apoptosis, immune response and regulation of K(+) channels. Involved in endosome organization by retaining vesicles in the perinuclear cloud: following ubiquitination by RNF26, attracts specific vesicle-associated adapters, forming a molecular bridge that restrains cognate vesicles in the perinuclear region and organizes the endosomal pathway for efficient cargo transport (PubMed:27368102). Promotes relocalization of 'Lys-63'-linked ubiquitinated STING1 to autophagosomes (PubMed:29496741). Acts as an activator of the NFE2L2/NRF2 pathway via interaction with KEAP1: interaction inactivates the BCR(KEAP1) complex, promoting nuclear accumulation of NFE2L2/NRF2 and subsequent expression of cytoprotective genes (PubMed:20452972, PubMed:28380357, PubMed:33393215). {ECO:0000250|UniProtKB:O08623, ECO:0000250|UniProtKB:Q64337, ECO:0000269|PubMed:10356400, ECO:0000269|PubMed:10747026, ECO:0000269|PubMed:11244088, ECO:0000269|PubMed:12471037, ECO:0000269|PubMed:15340068, ECO:0000269|PubMed:15802564, ECO:0000269|PubMed:15911346, ECO:0000269|PubMed:15953362, ECO:0000269|PubMed:16079148, ECO:0000269|PubMed:16286508, ECO:0000269|PubMed:19931284, ECO:0000269|PubMed:20168092, ECO:0000269|PubMed:20452972, ECO:0000269|PubMed:22622177, ECO:0000269|PubMed:24128730, ECO:0000269|PubMed:27368102, ECO:0000269|PubMed:28380357, ECO:0000269|PubMed:28404643, ECO:0000269|PubMed:29496741, ECO:0000269|PubMed:33393215}.

check buttonRetention 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.
PartnerGeneHbpTbpENSTStrandBPexonTotalExonProtein feature loci*BPlociTotalLenProtein featureProtein feature note
HgeneC9orf96chr9:136253332chr5:179263436ENST00000371957+51834_42132681.0Nucleotide bindingATP
TgeneSQSTM1chr9:136253332chr5:179263436ENST0000036071857389_434304357.0DomainUBA
TgeneSQSTM1chr9:136253332chr5:179263436ENST0000037692979389_434304357.0DomainUBA
TgeneSQSTM1chr9:136253332chr5:179263436ENST0000038980568389_434388441.0DomainUBA
TgeneSQSTM1chr9:136253332chr5:179263436ENST0000040287468389_434304357.0DomainUBA
TgeneSQSTM1chr9:136253332chr5:179263436ENST0000036071857336_341304357.0MotifNote=LIR
TgeneSQSTM1chr9:136253332chr5:179263436ENST0000037692979336_341304357.0MotifNote=LIR
TgeneSQSTM1chr9:136253332chr5:179263436ENST0000040287468336_341304357.0MotifNote=LIR
TgeneSQSTM1chr9:136253332chr5:179263436ENST0000036071857321_342304357.0RegionMAP1LC3B-binding
TgeneSQSTM1chr9:136253332chr5:179263436ENST0000037692979321_342304357.0RegionMAP1LC3B-binding
TgeneSQSTM1chr9:136253332chr5:179263436ENST0000040287468321_342304357.0RegionMAP1LC3B-binding

- In-frame and not-retained protein feature among the 13 regional features.
PartnerGeneHbpTbpENSTStrandBPexonTotalExonProtein feature loci*BPlociTotalLenProtein featureProtein feature note
HgeneC9orf96chr9:136253332chr5:179263436ENST00000371955+51628_2970214.0DomainProtein kinase
HgeneC9orf96chr9:136253332chr5:179263436ENST00000371957+51828_297132681.0DomainProtein kinase
HgeneC9orf96chr9:136253332chr5:179263436ENST00000371955+51634_420214.0Nucleotide bindingATP
TgeneSQSTM1chr9:136253332chr5:179263436ENST0000036071857272_294304357.0Compositional biasNote=Ser-rich
TgeneSQSTM1chr9:136253332chr5:179263436ENST0000037692979272_294304357.0Compositional biasNote=Ser-rich
TgeneSQSTM1chr9:136253332chr5:179263436ENST0000038980568272_294388441.0Compositional biasNote=Ser-rich
TgeneSQSTM1chr9:136253332chr5:179263436ENST0000040287468272_294304357.0Compositional biasNote=Ser-rich
TgeneSQSTM1chr9:136253332chr5:179263436ENST00000360718573_102304357.0DomainPB1
TgeneSQSTM1chr9:136253332chr5:179263436ENST00000376929793_102304357.0DomainPB1
TgeneSQSTM1chr9:136253332chr5:179263436ENST00000389805683_102388441.0DomainPB1
TgeneSQSTM1chr9:136253332chr5:179263436ENST00000402874683_102304357.0DomainPB1
TgeneSQSTM1chr9:136253332chr5:179263436ENST0000036071857228_233304357.0MotifNote=TRAF6-binding
TgeneSQSTM1chr9:136253332chr5:179263436ENST0000037692979228_233304357.0MotifNote=TRAF6-binding
TgeneSQSTM1chr9:136253332chr5:179263436ENST0000038980568228_233388441.0MotifNote=TRAF6-binding
TgeneSQSTM1chr9:136253332chr5:179263436ENST0000038980568336_341388441.0MotifNote=LIR
TgeneSQSTM1chr9:136253332chr5:179263436ENST0000040287468228_233304357.0MotifNote=TRAF6-binding
TgeneSQSTM1chr9:136253332chr5:179263436ENST0000036071857170_220304357.0RegionNote=LIM protein-binding (LB)
TgeneSQSTM1chr9:136253332chr5:179263436ENST0000037692979170_220304357.0RegionNote=LIM protein-binding (LB)
TgeneSQSTM1chr9:136253332chr5:179263436ENST0000038980568170_220388441.0RegionNote=LIM protein-binding (LB)
TgeneSQSTM1chr9:136253332chr5:179263436ENST0000038980568321_342388441.0RegionMAP1LC3B-binding
TgeneSQSTM1chr9:136253332chr5:179263436ENST0000040287468170_220304357.0RegionNote=LIM protein-binding (LB)
TgeneSQSTM1chr9:136253332chr5:179263436ENST0000036071857122_167304357.0Zinc fingerZZ-type
TgeneSQSTM1chr9:136253332chr5:179263436ENST0000037692979122_167304357.0Zinc fingerZZ-type
TgeneSQSTM1chr9:136253332chr5:179263436ENST0000038980568122_167388441.0Zinc fingerZZ-type
TgeneSQSTM1chr9:136253332chr5:179263436ENST0000040287468122_167304357.0Zinc fingerZZ-type


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Fusion Gene Sequence for C9orf96-SQSTM1


check button 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.
>12165_12165_1_C9orf96-SQSTM1_C9orf96_chr9_136253332_ENST00000371957_SQSTM1_chr5_179263436_ENST00000376929_length(transcript)=2143nt_BP=503nt
AGTGCCTCGAGGGCGCCGTTCGGGCGGGGAGGATCCCGCGGGTCCCACTGACCCACGCGGGGTGGGGCCAGGGGTGGACGCTCGCCCGTA
CGCGGTCGCTACTGATCATGCTTGGGCCAGGGTCCAATCGCAGGCGCCCCACGCAGGGGGAGCGAGGCCCAGGGTCCCCCGGAGAGCCCA
TGGAGAAGTACCAGGTTTTGTACCAGCTGAATCCTGGGGCCTTGGGGGTGAACCTGGTGGTGGAGGAAATGGAAACCAAAGTCAAGCATG
TGATAAAGCAGGTGGAATGCATGGATGACCATTACGCCAGTCAGGCCCTGGAGGAGCTGATGCCACTGCTGAAGCTGCGGCACGCCCACA
TCTCTGTGTACCAGGAGCTGTTCATCACGTGGAATGGGGAGATCTCTTCTCTGTACCTCTGCCTGGTGATGGAGTTCAATGAGCTCAGCT
TCCAGGAGGTCATTGAGGATAAGAGGAAGGCAAAGAAAATCATTGACTCTGAGAGGCTGACCCGCGGCTGATTGAGTCCCTCTCCCAGAT
GCTGTCCATGGGCTTCTCTGATGAAGGCGGCTGGCTCACCAGGCTCCTGCAGACCAAGAACTATGACATCGGAGCGGCTCTGGACACCAT
CCAGTATTCAAAGCATCCCCCGCCGTTGTGACCACTTTTGCCCACCTCTTCTGCGTGCCCCTCTTCTGTCTCATAGTTGTGTTAAGCTTG
CGTAGAATTGCAGGTCTCTGTACGGGCCAGTTTCTCTGCCTTCTTCCAGGATCAGGGGTTAGGGTGCAAGAAGCCATTTAGGGCAGCAAA
ACAAGTGACATGAAGGGAGGGTCCCTGTGTGTGTGTGTGCTGATGTTTCCTGGGTGCCCTGGCTCCTTGCAGCAGGGCTGGGCCTGCGAG
ACCCAAGGCTCACTGCAGCGCGCTCCTGACCCCTCCCTGCAGGGGCTACGTTAGCAGCCCAGCACATAGCTTGCCTAATGGCTTTCACTT
TCTCTTTTGTTTTAAATGACTCATAGGTCCCTGACATTTAGTTGATTATTTTCTGCTACAGACCTGGTACACTCTGATTTTAGATAAAGT
AAGCCTAGGTGTTGTCAGCAGGCAGGCTGGGGAGGCCAGTGTTGTGGGCTTCCTGCTGGGACTGAGAAGGCTCACGAAGGGCATCCGCAA
TGTTGGTTTCACTGAGAGCTGCCTCCTGGTCTCTTCACCACTGTAGTTCTCTCATTTCCAAACCATCAGCTGCTTTTAAAATAAGATCTC
TTTGTAGCCATCCTGTTAAATTTGTAAACAATCTAATTAAATGGCATCAGCACTTTAACCAATGACGTTTGCATAGAGAGAAATGATTGA
CAGTAAGTTTATTGTTAATGGTTCTTACAGAGTATCTTTAAAAGTGCCTTAGGGGAACCCTGTCCCTCCTAACAAGTGTATCTCGATTAA
TAACCTGCCAGTCCCAGATCACACATCATCATCGAAGTCTTCCCCAGTTATAAAGAGGTCACATAGTCGTGTGGGTCGAGGATTCTGTGC
CTCCAGGACCAGGGGCCCACCCTCTGCCCAGGGAGTCCTTGCGTCCCATGAGGTCTTCCCGCAAGGCCTCTCAGACCCAGATGTGACGGG
GTGTGTGGCCCGAGGAAGCTGGACAGCGGCAGTGGGCCTGCTGAGGCCTTCTCTTGAGGCCTGTGCTCTGGGGGTCCCTTGCTTAGCCTG
TGCTGGACCAGCTGGCCTGGGGTCCCTCTGAAGAGACCTTGGCTGCTCACTGTCCACATGTGAACTTTTTCTAGGTGGCAGGACAAATTG
CGCCCATTTAGAGGATGTGGCTGTAACCTGCTGGATGGGACTCCATAGCTCCTTCCCAGGACCCCTCAGCTCCCCGGCACTGCAGTCTGC
AGAGTTCTCCTGGAGGCAGGGGCTGCTGCCTTGTTTCACCTTCCATGTCAGGCCAGCCTGTCCCTGAAAGAGAAGATGGCCATGCCCTCC
ATGTGTAAGAACAATGCCAGGGCCCAGGAGGACCGCCTGCCCTGCCTGGGCCTTGGCTGGGCCTCTGGTTCTGACACTTTCTGCTGGAAG

>12165_12165_1_C9orf96-SQSTM1_C9orf96_chr9_136253332_ENST00000371957_SQSTM1_chr5_179263436_ENST00000376929_length(amino acids)=182AA_BP=
MGPGIVLTHGGHGHLLFQGQAGLTWKVKQGSSPCLQENSADCSAGELRGPGKELWSPIQQVTATSSKWAQFVLPPRKSSHVDSEQPRSLQ
RDPRPAGPAQAKQGTPRAQASREGLSRPTAAVQLPRATHPVTSGSERPCGKTSWDARTPWAEGGPLVLEAQNPRPTRLCDLFITGEDFDD

--------------------------------------------------------------
>12165_12165_2_C9orf96-SQSTM1_C9orf96_chr9_136253332_ENST00000426926_SQSTM1_chr5_179263436_ENST00000376929_length(transcript)=2264nt_BP=624nt
ACGCTGGAGGCCCCGCCCGCCGCGCGCAGGCCCTGCGGTCCCTCCCGGCCCGGCGGAACGCGTCCCTTTTAAGGGGGCGGGGACCTGGGG
GTCTGGGGCCAGCGCGCGGGAGGGACGCCTGAGTGCCTCGAGGGCGCCGTTCGGGCGGGGAGGATCCCGCGGGTCCCACTGACCCACGCG
GGGTGGGGCCAGGGGTGGACGCTCGCCCGTACGCGGTCGCTACTGATCATGCTTGGGCCAGGGTCCAATCGCAGGCGCCCCACGCAGGGG
GAGCGAGGCCCAGGGTCCCCCGGAGAGCCCATGGAGAAGTACCAGGTTTTGTACCAGCTGAATCCTGGGGCCTTGGGGGTGAACCTGGTG
GTGGAGGAAATGGAAACCAAAGTCAAGCATGTGATAAAGCAGGTGGAATGCATGGATGACCATTACGCCAGTCAGGCCCTGGAGGAGCTG
ATGCCACTGCTGAAGCTGCGGCACGCCCACATCTCTGTGTACCAGGAGCTGTTCATCACGTGGAATGGGGAGATCTCTTCTCTGTACCTC
TGCCTGGTGATGGAGTTCAATGAGCTCAGCTTCCAGGAGGTCATTGAGGATAAGAGGAAGGCAAAGAAAATCATTGACTCTGAGAGGCTG
ACCCGCGGCTGATTGAGTCCCTCTCCCAGATGCTGTCCATGGGCTTCTCTGATGAAGGCGGCTGGCTCACCAGGCTCCTGCAGACCAAGA
ACTATGACATCGGAGCGGCTCTGGACACCATCCAGTATTCAAAGCATCCCCCGCCGTTGTGACCACTTTTGCCCACCTCTTCTGCGTGCC
CCTCTTCTGTCTCATAGTTGTGTTAAGCTTGCGTAGAATTGCAGGTCTCTGTACGGGCCAGTTTCTCTGCCTTCTTCCAGGATCAGGGGT
TAGGGTGCAAGAAGCCATTTAGGGCAGCAAAACAAGTGACATGAAGGGAGGGTCCCTGTGTGTGTGTGTGCTGATGTTTCCTGGGTGCCC
TGGCTCCTTGCAGCAGGGCTGGGCCTGCGAGACCCAAGGCTCACTGCAGCGCGCTCCTGACCCCTCCCTGCAGGGGCTACGTTAGCAGCC
CAGCACATAGCTTGCCTAATGGCTTTCACTTTCTCTTTTGTTTTAAATGACTCATAGGTCCCTGACATTTAGTTGATTATTTTCTGCTAC
AGACCTGGTACACTCTGATTTTAGATAAAGTAAGCCTAGGTGTTGTCAGCAGGCAGGCTGGGGAGGCCAGTGTTGTGGGCTTCCTGCTGG
GACTGAGAAGGCTCACGAAGGGCATCCGCAATGTTGGTTTCACTGAGAGCTGCCTCCTGGTCTCTTCACCACTGTAGTTCTCTCATTTCC
AAACCATCAGCTGCTTTTAAAATAAGATCTCTTTGTAGCCATCCTGTTAAATTTGTAAACAATCTAATTAAATGGCATCAGCACTTTAAC
CAATGACGTTTGCATAGAGAGAAATGATTGACAGTAAGTTTATTGTTAATGGTTCTTACAGAGTATCTTTAAAAGTGCCTTAGGGGAACC
CTGTCCCTCCTAACAAGTGTATCTCGATTAATAACCTGCCAGTCCCAGATCACACATCATCATCGAAGTCTTCCCCAGTTATAAAGAGGT
CACATAGTCGTGTGGGTCGAGGATTCTGTGCCTCCAGGACCAGGGGCCCACCCTCTGCCCAGGGAGTCCTTGCGTCCCATGAGGTCTTCC
CGCAAGGCCTCTCAGACCCAGATGTGACGGGGTGTGTGGCCCGAGGAAGCTGGACAGCGGCAGTGGGCCTGCTGAGGCCTTCTCTTGAGG
CCTGTGCTCTGGGGGTCCCTTGCTTAGCCTGTGCTGGACCAGCTGGCCTGGGGTCCCTCTGAAGAGACCTTGGCTGCTCACTGTCCACAT
GTGAACTTTTTCTAGGTGGCAGGACAAATTGCGCCCATTTAGAGGATGTGGCTGTAACCTGCTGGATGGGACTCCATAGCTCCTTCCCAG
GACCCCTCAGCTCCCCGGCACTGCAGTCTGCAGAGTTCTCCTGGAGGCAGGGGCTGCTGCCTTGTTTCACCTTCCATGTCAGGCCAGCCT
GTCCCTGAAAGAGAAGATGGCCATGCCCTCCATGTGTAAGAACAATGCCAGGGCCCAGGAGGACCGCCTGCCCTGCCTGGGCCTTGGCTG
GGCCTCTGGTTCTGACACTTTCTGCTGGAAGCTGTCAGGCTGGGACAGGCTTTGATTTTGAGGGTTAGCAAGACAAAGCAAATAAATGCC

>12165_12165_2_C9orf96-SQSTM1_C9orf96_chr9_136253332_ENST00000426926_SQSTM1_chr5_179263436_ENST00000376929_length(amino acids)=185AA_BP=
MGVWGQRAGGTPECLEGAVRAGRIPRVPLTHAGWGQGWTLARTRSLLIMLGPGSNRRRPTQGERGPGSPGEPMEKYQVLYQLNPGALGVN
LVVEEMETKVKHVIKQVECMDDHYASQALEELMPLLKLRHAHISVYQELFITWNGEISSLYLCLVMEFNELSFQEVIEDKRKAKKIIDSE

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Fusion Gene PPI Analysis for C9orf96-SQSTM1


check button Go to ChiPPI (Chimeric Protein-Protein interactions) to see the chimeric PPI interaction in

ChiPPI page.


check button Protein-protein interactors with each fusion partner protein in wild-type (BIOGRID-3.4.160)
HgeneHgene's interactorsTgeneTgene's interactors


check button - Retained PPIs in in-frame fusion.
PartnerGeneHbpTbpENSTStrandBPexonTotalExonProtein feature loci*BPlociTotalLenStill interaction with
TgeneSQSTM1chr9:136253332chr5:179263436ENST0000036071857347_352304.3333333333333357.0KEAP1
TgeneSQSTM1chr9:136253332chr5:179263436ENST0000037692979347_352304.3333333333333357.0KEAP1
TgeneSQSTM1chr9:136253332chr5:179263436ENST0000040287468347_352304.3333333333333357.0KEAP1


check button - Lost PPIs in in-frame fusion.
PartnerGeneHbpTbpENSTStrandBPexonTotalExonProtein feature loci*BPlociTotalLenInteraction lost with
TgeneSQSTM1chr9:136253332chr5:179263436ENST0000036071857122_224304.3333333333333357.0GABRR3
TgeneSQSTM1chr9:136253332chr5:179263436ENST0000037692979122_224304.3333333333333357.0GABRR3
TgeneSQSTM1chr9:136253332chr5:179263436ENST0000038980568122_224388.3333333333333441.0GABRR3
TgeneSQSTM1chr9:136253332chr5:179263436ENST0000040287468122_224304.3333333333333357.0GABRR3
TgeneSQSTM1chr9:136253332chr5:179263436ENST0000038980568347_352388.3333333333333441.0KEAP1
TgeneSQSTM1chr9:136253332chr5:179263436ENST00000360718572_50304.3333333333333357.0LCK
TgeneSQSTM1chr9:136253332chr5:179263436ENST00000376929792_50304.3333333333333357.0LCK
TgeneSQSTM1chr9:136253332chr5:179263436ENST00000389805682_50388.3333333333333441.0LCK
TgeneSQSTM1chr9:136253332chr5:179263436ENST00000402874682_50304.3333333333333357.0LCK
TgeneSQSTM1chr9:136253332chr5:179263436ENST0000036071857269_440304.3333333333333357.0NTRK1
TgeneSQSTM1chr9:136253332chr5:179263436ENST0000037692979269_440304.3333333333333357.0NTRK1
TgeneSQSTM1chr9:136253332chr5:179263436ENST0000038980568269_440388.3333333333333441.0NTRK1
TgeneSQSTM1chr9:136253332chr5:179263436ENST0000040287468269_440304.3333333333333357.0NTRK1
TgeneSQSTM1chr9:136253332chr5:179263436ENST000003607185750_80304.3333333333333357.0PAWR
TgeneSQSTM1chr9:136253332chr5:179263436ENST000003769297950_80304.3333333333333357.0PAWR
TgeneSQSTM1chr9:136253332chr5:179263436ENST000003898056850_80388.3333333333333441.0PAWR
TgeneSQSTM1chr9:136253332chr5:179263436ENST000004028746850_80304.3333333333333357.0PAWR
TgeneSQSTM1chr9:136253332chr5:179263436ENST000003607185743_107304.3333333333333357.0PRKCZ and dimerization
TgeneSQSTM1chr9:136253332chr5:179263436ENST000003769297943_107304.3333333333333357.0PRKCZ and dimerization
TgeneSQSTM1chr9:136253332chr5:179263436ENST000003898056843_107388.3333333333333441.0PRKCZ and dimerization
TgeneSQSTM1chr9:136253332chr5:179263436ENST000004028746843_107304.3333333333333357.0PRKCZ and dimerization


check button - Retained PPIs, but lost function due to frame-shift fusion.
PartnerGeneHbpTbpENSTStrandBPexonTotalExonProtein feature loci*BPlociTotalLenInteraction lost with


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Related Drugs for C9orf96-SQSTM1


check button Drugs targeting genes involved in this fusion gene.
(DrugBank Version 5.1.8 2021-05-08)
PartnerGeneUniProtAccDrugBank IDDrug nameDrug activityDrug typeDrug status

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Related Diseases for C9orf96-SQSTM1


check button Diseases associated with fusion partners.
(DisGeNet 4.0)
PartnerGeneDisease IDDisease name# pubmedsSource
TgeneC4085252PAGET DISEASE OF BONE 39GENOMICS_ENGLAND;UNIPROT
TgeneC0002736Amyotrophic Lateral Sclerosis5CTD_human;ORPHANET
TgeneC4225326FRONTOTEMPORAL DEMENTIA AND/OR AMYOTROPHIC LATERAL SCLEROSIS 34CTD_human;UNIPROT
TgeneC0029463Osteosarcoma2GENOMICS_ENGLAND
TgeneC0221054Welander Distal Myopathy1ORPHANET
TgeneC0242383Age related macular degeneration1CTD_human
TgeneC0393554Amyotrophic Lateral Sclerosis With Dementia1CTD_human
TgeneC0543859Amyotrophic Lateral Sclerosis, Guam Form1CTD_human
TgeneC1853926NONAKA MYOPATHY1CTD_human;GENOMICS_ENGLAND
TgeneC2931290Welander distal myopathy, Swedish type1ORPHANET
TgeneC3888102Frontotemporal Dementia With Motor Neuron Disease1ORPHANET
TgeneC4011788Behavioral variant of frontotemporal dementia1ORPHANET