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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: 35406

FusionGeneSummary for SORL1_DDX6

check button Fusion gene summary
Fusion gene informationFusion gene name: SORL1_DDX6
Fusion gene ID: 35406
HgeneTgene
Gene symbol

SORL1

DDX6

Gene ID

6653

1656

Gene namesortilin related receptor 1DEAD-box helicase 6
SynonymsC11orf32|LR11|LRP9|SORLA|SorLA-1|gp250HLR2|P54|RCK
Cytomap

11q24.1

11q23.3

Type of geneprotein-codingprotein-coding
Descriptionsortilin-related receptorLDLR relative with 11 ligand-binding repeatslow-density lipoprotein receptor relative with 11 ligand-binding repeatsmosaic protein LR11sortilin-related receptor, L(DLR class) A repeats containingsorting protein-related receptprobable ATP-dependent RNA helicase DDX6ATP-dependent RNA helicase p54DEAD (Asp-Glu-Ala-Asp) box helicase 6DEAD (Asp-Glu-Ala-Asp) box polypeptide 6DEAD box protein 6DEAD box-6DEAD/H (Asp-Glu-Ala-Asp/His) box polypeptide 6 (RNA helicase, 54kD)oncoge
Modification date2018052720180522
UniProtAcc

Q92673

P26196

Ensembl transtripts involved in fusion geneENST00000260197, ENST00000532451, 
ENST00000525532, ENST00000532694, 
ENST00000534286, ENST00000527934, 
ENST00000264018, ENST00000534980, 
ENST00000526070, 
Fusion gene scores* DoF score13 X 10 X 7=9102 X 2 X 2=8
# samples 142
** MAII scorelog2(14/910*10)=-2.70043971814109
possibly effective Gene in Pan-Cancer Fusion Genes (peGinPCFGs).
DoF>8 and MAII<0
log2(2/8*10)=1.32192809488736
Context

PubMed: SORL1 [Title/Abstract] AND DDX6 [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
HgeneSORL1

GO:0006605

protein targeting

16407538

HgeneSORL1

GO:0006622

protein targeting to lysosome

24523320

HgeneSORL1

GO:0006892

post-Golgi vesicle-mediated transport

17855360

HgeneSORL1

GO:0014910

regulation of smooth muscle cell migration

14764453

HgeneSORL1

GO:0032091

negative regulation of protein binding

16407538

HgeneSORL1

GO:0034067

protein localization to Golgi apparatus

17855360

HgeneSORL1

GO:0045053

protein retention in Golgi apparatus

17855360

HgeneSORL1

GO:0045732

positive regulation of protein catabolic process

24523320

HgeneSORL1

GO:0051604

protein maturation

17855360

HgeneSORL1

GO:1902430

negative regulation of amyloid-beta formation

16407538|22621900

HgeneSORL1

GO:1902960

negative regulation of aspartic-type endopeptidase activity involved in amyloid precursor protein catabolic process

16407538

TgeneDDX6

GO:0033962

cytoplasmic mRNA processing body assembly

20826699


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
TCGARVBRCATCGA-AR-A2LL-01ASORL1chr11

121403261

+DDX6chr11

118657227

-
* 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
5CDS-5UTRENST00000260197ENST00000264018SORL1chr11

121403261

+DDX6chr11

118657227

-
5CDS-5UTRENST00000260197ENST00000534980SORL1chr11

121403261

+DDX6chr11

118657227

-
5CDS-5UTRENST00000260197ENST00000526070SORL1chr11

121403261

+DDX6chr11

118657227

-
3UTR-5UTRENST00000532451ENST00000264018SORL1chr11

121403261

+DDX6chr11

118657227

-
3UTR-5UTRENST00000532451ENST00000534980SORL1chr11

121403261

+DDX6chr11

118657227

-
3UTR-5UTRENST00000532451ENST00000526070SORL1chr11

121403261

+DDX6chr11

118657227

-
intron-5UTRENST00000525532ENST00000264018SORL1chr11

121403261

+DDX6chr11

118657227

-
intron-5UTRENST00000525532ENST00000534980SORL1chr11

121403261

+DDX6chr11

118657227

-
intron-5UTRENST00000525532ENST00000526070SORL1chr11

121403261

+DDX6chr11

118657227

-
intron-5UTRENST00000532694ENST00000264018SORL1chr11

121403261

+DDX6chr11

118657227

-
intron-5UTRENST00000532694ENST00000534980SORL1chr11

121403261

+DDX6chr11

118657227

-
intron-5UTRENST00000532694ENST00000526070SORL1chr11

121403261

+DDX6chr11

118657227

-
intron-5UTRENST00000534286ENST00000264018SORL1chr11

121403261

+DDX6chr11

118657227

-
intron-5UTRENST00000534286ENST00000534980SORL1chr11

121403261

+DDX6chr11

118657227

-
intron-5UTRENST00000534286ENST00000526070SORL1chr11

121403261

+DDX6chr11

118657227

-
intron-5UTRENST00000527934ENST00000264018SORL1chr11

121403261

+DDX6chr11

118657227

-
intron-5UTRENST00000527934ENST00000534980SORL1chr11

121403261

+DDX6chr11

118657227

-
intron-5UTRENST00000527934ENST00000526070SORL1chr11

121403261

+DDX6chr11

118657227

-

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FusionProtFeatures for SORL1_DDX6


check buttonMain function of each fusion partner protein. (from UniProt)
HgeneTgene
SORL1

Q92673

DDX6

P26196

Likely to be a multifunctional endocytic receptor, thatmay be implicated in the uptake of lipoproteins and of proteases.Binds LDL, the major cholesterol-carrying lipoprotein of plasma,and transports it into cells by endocytosis. Binds the receptor-associated protein (RAP). Could play a role in cell-cellinteraction. Involved in APP trafficking to and from the Golgiapparatus. It probably acts as a sorting receptor that protectsAPP from trafficking to late endosome and from processing intoamyloid beta, thereby reducing the burden of amyloidogenic peptideformation. Involved in the regulation of smooth muscle cellsmigration, probably through PLAUR binding and decreasedinternalization. {ECO:0000269|PubMed:14764453,ECO:0000269|PubMed:16174740}. In the process of mRNA degradation, plays a role in mRNAdecapping (PubMed:16364915). Blocks autophagy in nutrient-richconditions by repressing the expression of ATG-related genesthrough degration of their transcripts (PubMed:26098573).{ECO:0000269|PubMed:16364915, ECO:0000269|PubMed:26098573}.

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 SORL1_DDX6


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 SORL1_DDX6


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
SORL1LRPAP1, GGA1, GGA2, PPP1CA, CUL1, COPS5, COPS6, FBXO6, CFTR, DYRK3, POP1, AURKA, APP, PACS1, FAM76B, HLA-DPA1, RSPO1, LGALS8, FGL1, LGALS9, DLD, FOSL2, WISP3, SP6, ZFP41, FOXI2, ZNF354C, TYW3, ZNF563, ZNF224, ZNF408, ZNF331, EGFL6, ZNF169, FAM19A3, OS9, ZBBX, ZNF517, ZNF264, PSG1, SREBF1, MDK, SCGB1D1, ZNF816, FAM19A4, SOST, CDHR5, ZNF549, GCNT3, CEP97DDX6YWHAQ, POLR1E, BCL6, AFF1, TSG101, CUL3, COPS5, CAND1, INPPL1, UBASH3B, CRK, AP2M1, RC3H1, WDR12, DCP1A, DCP1B, EDC3, FN1, VCAM1, SRPK2, FBXO6, TARDBP, YWHAB, SH3RF2, WWOX, ATXN2, ATXN2L, FAM195A, G3BP2, FAM195B, LSM12, LSM14B, NUFIP2, PATL1, BAG4, AES, GOLGA2, TRIM37, NONO, TRIM27, VPS52, TCF4, ZNF24, CALCOCO2, IKZF1, SDCCAG3, RUNDC3A, EIF4ENIF1, BIRC7, CEP70, PNMA5, KRT40, BEND7, KRTAP10-8, KRTAP10-3, ZBTB8A, CUL7, OBSL1, EED, PIM1, EDC4, PNRC1, PAK4, RPS6KB2, HNRNPA1, ADRBK1, ARHGAP17, CNOT7, COMMD4, LRPPRC, PPWD1, TIMM13, TIMM8B, NTRK1, XPO1, CRKL, CNOT1, MCM2, CDC5L, CDH1, TRIM25, G3BP1, BRCA1


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 SORL1_DDX6


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 SORL1_DDX6


check button Diseases associated with fusion partners.
(DisGeNet 4.0)
PartnerGeneDisease IDDisease name# pubmedsSource
HgeneSORL1C0008370Cholestasis1CTD_human
HgeneSORL1C0027626Neoplasm Invasiveness1CTD_human
HgeneSORL1C4277682Chemical and Drug Induced Liver Injury1CTD_human
TgeneDDX6C0003873Rheumatoid Arthritis1CTD_human