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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: 35900

FusionGeneSummary for SQSTM1_PPM1K

check button Fusion gene summary
Fusion gene informationFusion gene name: SQSTM1_PPM1K
Fusion gene ID: 35900
HgeneTgene
Gene symbol

SQSTM1

PPM1K

Gene ID

8878

152926

Gene namesequestosome 1protein phosphatase, Mg2+/Mn2+ dependent 1K
SynonymsA170|DMRV|FTDALS3|NADGP|OSIL|PDB3|ZIP3|p60|p62|p62BBDP|MSUDMV|PP2Ckappa|PP2Cm|PTMP|UG0882E07
Cytomap

5q35.3

4q22.1

Type of geneprotein-codingprotein-coding
Descriptionsequestosome-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-biprotein phosphatase 1K, mitochondrialPP2C domain-containing protein phosphatase 1KPP2C-kappaPP2C-type mitochondrial phosphoprotein phosphatasebranched-chain I+/--ketoacid dehydrogenase phosphatasebranched-chain alpha-ketoacid dehydrogenase phosphatas
Modification date2018052320180519
UniProtAcc

Q13501

Q8N3J5

Ensembl transtripts involved in fusion geneENST00000376929, ENST00000506690, 
ENST00000389805, ENST00000402874, 
ENST00000510187, ENST00000360718, 
ENST00000608933, ENST00000295908, 
ENST00000508256, ENST00000506423, 
ENST00000315194, ENST00000514204, 
Fusion gene scores* DoF score17 X 18 X 7=21421 X 1 X 1=1
# samples 211
** MAII scorelog2(21/2142*10)=-3.35049724708413
possibly effective Gene in Pan-Cancer Fusion Genes (peGinPCFGs).
DoF>8 and MAII<0
log2(1/1*10)=3.32192809488736
Context

PubMed: SQSTM1 [Title/Abstract] AND PPM1K [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
HgeneSQSTM1

GO:0007032

endosome organization

27368102

HgeneSQSTM1

GO:0061635

regulation of protein complex stability

25127057

HgeneSQSTM1

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
ChiTaRS3.1BF376523SQSTM1chr5

179258273

+PPM1Kchr4

89194378

-
* 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-intronENST00000376929ENST00000608933SQSTM1chr5

179258273

+PPM1Kchr4

89194378

-
intron-intronENST00000376929ENST00000295908SQSTM1chr5

179258273

+PPM1Kchr4

89194378

-
intron-intronENST00000376929ENST00000508256SQSTM1chr5

179258273

+PPM1Kchr4

89194378

-
intron-intronENST00000376929ENST00000506423SQSTM1chr5

179258273

+PPM1Kchr4

89194378

-
intron-intronENST00000376929ENST00000315194SQSTM1chr5

179258273

+PPM1Kchr4

89194378

-
intron-intronENST00000376929ENST00000514204SQSTM1chr5

179258273

+PPM1Kchr4

89194378

-
intron-intronENST00000506690ENST00000608933SQSTM1chr5

179258273

+PPM1Kchr4

89194378

-
intron-intronENST00000506690ENST00000295908SQSTM1chr5

179258273

+PPM1Kchr4

89194378

-
intron-intronENST00000506690ENST00000508256SQSTM1chr5

179258273

+PPM1Kchr4

89194378

-
intron-intronENST00000506690ENST00000506423SQSTM1chr5

179258273

+PPM1Kchr4

89194378

-
intron-intronENST00000506690ENST00000315194SQSTM1chr5

179258273

+PPM1Kchr4

89194378

-
intron-intronENST00000506690ENST00000514204SQSTM1chr5

179258273

+PPM1Kchr4

89194378

-
intron-intronENST00000389805ENST00000608933SQSTM1chr5

179258273

+PPM1Kchr4

89194378

-
intron-intronENST00000389805ENST00000295908SQSTM1chr5

179258273

+PPM1Kchr4

89194378

-
intron-intronENST00000389805ENST00000508256SQSTM1chr5

179258273

+PPM1Kchr4

89194378

-
intron-intronENST00000389805ENST00000506423SQSTM1chr5

179258273

+PPM1Kchr4

89194378

-
intron-intronENST00000389805ENST00000315194SQSTM1chr5

179258273

+PPM1Kchr4

89194378

-
intron-intronENST00000389805ENST00000514204SQSTM1chr5

179258273

+PPM1Kchr4

89194378

-
intron-intronENST00000402874ENST00000608933SQSTM1chr5

179258273

+PPM1Kchr4

89194378

-
intron-intronENST00000402874ENST00000295908SQSTM1chr5

179258273

+PPM1Kchr4

89194378

-
intron-intronENST00000402874ENST00000508256SQSTM1chr5

179258273

+PPM1Kchr4

89194378

-
intron-intronENST00000402874ENST00000506423SQSTM1chr5

179258273

+PPM1Kchr4

89194378

-
intron-intronENST00000402874ENST00000315194SQSTM1chr5

179258273

+PPM1Kchr4

89194378

-
intron-intronENST00000402874ENST00000514204SQSTM1chr5

179258273

+PPM1Kchr4

89194378

-
intron-intronENST00000510187ENST00000608933SQSTM1chr5

179258273

+PPM1Kchr4

89194378

-
intron-intronENST00000510187ENST00000295908SQSTM1chr5

179258273

+PPM1Kchr4

89194378

-
intron-intronENST00000510187ENST00000508256SQSTM1chr5

179258273

+PPM1Kchr4

89194378

-
intron-intronENST00000510187ENST00000506423SQSTM1chr5

179258273

+PPM1Kchr4

89194378

-
intron-intronENST00000510187ENST00000315194SQSTM1chr5

179258273

+PPM1Kchr4

89194378

-
intron-intronENST00000510187ENST00000514204SQSTM1chr5

179258273

+PPM1Kchr4

89194378

-
intron-intronENST00000360718ENST00000608933SQSTM1chr5

179258273

+PPM1Kchr4

89194378

-
intron-intronENST00000360718ENST00000295908SQSTM1chr5

179258273

+PPM1Kchr4

89194378

-
intron-intronENST00000360718ENST00000508256SQSTM1chr5

179258273

+PPM1Kchr4

89194378

-
intron-intronENST00000360718ENST00000506423SQSTM1chr5

179258273

+PPM1Kchr4

89194378

-
intron-intronENST00000360718ENST00000315194SQSTM1chr5

179258273

+PPM1Kchr4

89194378

-
intron-intronENST00000360718ENST00000514204SQSTM1chr5

179258273

+PPM1Kchr4

89194378

-

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FusionProtFeatures for SQSTM1_PPM1K


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

Q13501

PPM1K

Q8N3J5

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 SQSTM1_PPM1K


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 SQSTM1_PPM1K


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 SQSTM1_PPM1K


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 SQSTM1_PPM1K


check button Diseases associated with fusion partners.
(DisGeNet 4.0)
PartnerGeneDisease IDDisease name# pubmedsSource
HgeneSQSTM1C4085252PAGET DISEASE OF BONE 312UNIPROT
HgeneSQSTM1C4225326FRONTOTEMPORAL DEMENTIA AND/OR AMYOTROPHIC LATERAL SCLEROSIS 33UNIPROT
HgeneSQSTM1C0002736Amyotrophic Lateral Sclerosis1CTD_human;HPO;ORPHANET
HgeneSQSTM1C0242383Age related macular degeneration1CTD_human