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Center for Computational Systems Medicine
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FusionGeneSummary

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FusionProtFeature

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FusionGeneSequence

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FusionGenePPI

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RelatedDrugs

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RelatedDiseases

Fusion gene ID: 17550

FusionGeneSummary for INS-IGF2_SQSTM1

check button Fusion gene summary
Fusion gene informationFusion gene name: INS-IGF2_SQSTM1
Fusion gene ID: 17550
HgeneTgene
Gene symbol

INS-IGF2

SQSTM1

Gene ID

723961

8878

Gene nameINS-IGF2 readthroughsequestosome 1
SynonymsINSIGFA170|DMRV|FTDALS3|NADGP|OSIL|PDB3|ZIP3|p60|p62|p62B
Cytomap

11p15.5

5q35.3

Type of geneprotein-codingprotein-coding
Descriptioninsulin, isoform 2INS-IGF2 readthrough transcript proteininsulin- insulin-like growth factor 2 read-through productsequestosome-1EBI3-associated protein of 60 kDaEBI3-associated protein p60EBIAPoxidative stress induced likephosphotyrosine independent ligand for the Lck SH2 domain p62phosphotyrosine-independent ligand for the Lck SH2 domain of 62 kDaubiquitin-bi
Modification date2018052220180523
UniProtAcc

F8WCM5

Q13501

Ensembl transtripts involved in fusion geneENST00000481781, ENST00000397270, 
ENST00000376929, ENST00000506690, 
ENST00000389805, ENST00000402874, 
ENST00000510187, ENST00000360718, 
Fusion gene scores* DoF score22 X 31 X 1=68217 X 12 X 8=1632
# samples 3323
** MAII scorelog2(33/682*10)=-1.04730571477836
possibly effective Gene in Pan-Cancer Fusion Genes (peGinPCFGs).
DoF>8 and MAII<0
log2(23/1632*10)=-2.82693529102712
possibly effective Gene in Pan-Cancer Fusion Genes (peGinPCFGs).
DoF>8 and MAII<0
Context

PubMed: INS-IGF2 [Title/Abstract] AND SQSTM1 [Title/Abstract] AND fusion [Title/Abstract]

Functional or gene categories assigned by FusionGDB annotation
* 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:0007032

endosome organization

27368102

TgeneSQSTM1

GO:0061635

regulation of protein complex stability

25127057

TgeneSQSTM1

GO:1905719

protein localization to perinuclear region of cytoplasm

27368102


check button Fusion gene information from three resources
(ChiTars (NAR, 2018), tumorfusions (NAR, 2018), Gao et al. (Cell, 2018))
* 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.
Data typeSourceCancer typeSampleHgeneHchrHbpHstrandTgeneTchrTbpTstrand
ChiTaRS3.1BU076816INS-IGF2chr11

2150536

+SQSTM1chr5

179263539

+
* LD: Li Ding group's fusion gene list
  RV: Roel Verhaak group's fusion gene list
  ChiTaRs fusion database

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
intron-3CDSENST00000481781ENST00000376929INS-IGF2chr11

2150536

+SQSTM1chr5

179263539

+
intron-intronENST00000481781ENST00000506690INS-IGF2chr11

2150536

+SQSTM1chr5

179263539

+
intron-intronENST00000481781ENST00000389805INS-IGF2chr11

2150536

+SQSTM1chr5

179263539

+
intron-intronENST00000481781ENST00000402874INS-IGF2chr11

2150536

+SQSTM1chr5

179263539

+
intron-intronENST00000481781ENST00000510187INS-IGF2chr11

2150536

+SQSTM1chr5

179263539

+
intron-intronENST00000481781ENST00000360718INS-IGF2chr11

2150536

+SQSTM1chr5

179263539

+
intron-3CDSENST00000397270ENST00000376929INS-IGF2chr11

2150536

+SQSTM1chr5

179263539

+
intron-intronENST00000397270ENST00000506690INS-IGF2chr11

2150536

+SQSTM1chr5

179263539

+
intron-intronENST00000397270ENST00000389805INS-IGF2chr11

2150536

+SQSTM1chr5

179263539

+
intron-intronENST00000397270ENST00000402874INS-IGF2chr11

2150536

+SQSTM1chr5

179263539

+
intron-intronENST00000397270ENST00000510187INS-IGF2chr11

2150536

+SQSTM1chr5

179263539

+
intron-intronENST00000397270ENST00000360718INS-IGF2chr11

2150536

+SQSTM1chr5

179263539

+

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FusionProtFeatures for INS-IGF2_SQSTM1


check buttonMain function of each fusion partner protein. (from UniProt)
HgeneTgene
INS-IGF2

F8WCM5

SQSTM1

Q13501

Autophagy receptor required for selective macroautophagy(aggrephagy). Functions as a bridge between polyubiquitinatedcargo and autophagosomes. Interacts directly with both the cargoto become degraded and an autophagy modifier of the MAP1 LC3family (PubMed:16286508, PubMed:20168092, PubMed:24128730,PubMed:28404643, PubMed:22622177). Along with WDFY3, involved inthe formation and autophagic degradation of cytoplasmic ubiquitin-containing inclusions (p62 bodies, ALIS/aggresome-like inducedstructures). Along with WDFY3, required to recruit ubiquitinatedproteins 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 arole in titin/TTN downstream signaling in muscle cells. Mayregulate signaling cascades through ubiquitination. Adapter thatmediates the interaction between TRAF6 and CYLD (By similarity).May be involved in cell differentiation, apoptosis, immuneresponse and regulation of K(+) channels. Involved in endosomeorganization by retaining vesicles in the perinuclear cloud:following ubiquitination by RNF26, attracts specific vesicle-associated adapters, forming a molecular bridge that restrainscognate vesicles in the perinuclear region and organizes theendosomal pathway for efficient cargo transport (PubMed:27368102).{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:22622177, ECO:0000269|PubMed:24128730,ECO:0000269|PubMed:27368102, ECO:0000269|PubMed:28404643}.

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

- In-frame and not-retained protein feature among the 13 regional features.
PartnerGeneHbpTbpENSTStrandBPexonTotalExonProtein feature loci*BPlociTotalLenProtein featureProtein feature note


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FusionGeneSequence for INS-IGF2_SQSTM1


check button For in-frame fusion transcripts, we provide the fusion transcript sequences and fusion amino acid sequences.
(nt: nucleotides, aa: amino acids)

* Fusion amino acid sequences.

* Fusion transcript sequences (only coding sequence (CDS) region).

* Fusion transcript sequences (Full-length transcript).

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FusionGenePPI for INS-IGF2_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


check button - Lost PPIs in in-frame fusion.
PartnerGeneHbpTbpENSTStrandBPexonTotalExonProtein feature loci*BPlociTotalLenInteraction lost with


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


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RelatedDrugs for INS-IGF2_SQSTM1


check button Drugs targeting genes involved in this fusion gene.
(DrugBank Version 5.1.0 2018-04-02)
PartnerGeneUniProtAccDrugBank IDDrug nameDrug activityDrug typeDrug status

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RelatedDiseases for INS-IGF2_SQSTM1


check button Diseases associated with fusion partners.
(DisGeNet 4.0)
PartnerGeneDisease IDDisease name# pubmedsSource
TgeneSQSTM1C4085252PAGET DISEASE OF BONE 312UNIPROT
TgeneSQSTM1C4225326FRONTOTEMPORAL DEMENTIA AND/OR AMYOTROPHIC LATERAL SCLEROSIS 33UNIPROT
TgeneSQSTM1C0002736Amyotrophic Lateral Sclerosis1CTD_human;HPO;ORPHANET
TgeneSQSTM1C0242383Age related macular degeneration1CTD_human