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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: 8174

FusionGeneSummary for COX6B1_SORL1

check button Fusion gene summary
Fusion gene informationFusion gene name: COX6B1_SORL1
Fusion gene ID: 8174
HgeneTgene
Gene symbol

COX6B1

SORL1

Gene ID

1340

6653

Gene namecytochrome c oxidase subunit 6B1sortilin related receptor 1
SynonymsCOX6B|COXG|COXVIb1C11orf32|LR11|LRP9|SORLA|SorLA-1|gp250
Cytomap

19q13.12

11q24.1

Type of geneprotein-codingprotein-coding
Descriptioncytochrome c oxidase subunit 6B1COX VIb-1cytochrome c oxidase subunit VIb polypeptide 1 (ubiquitous)sortilin-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 recept
Modification date2018052220180527
UniProtAcc

P14854

Q92673

Ensembl transtripts involved in fusion geneENST00000246554, ENST00000592141, 
ENST00000392201, 
ENST00000260197, 
ENST00000532451, ENST00000525532, 
ENST00000532694, ENST00000534286, 
ENST00000527934, 
Fusion gene scores* DoF score4 X 3 X 3=3611 X 10 X 6=660
# samples 510
** MAII scorelog2(5/36*10)=0.473931188332412
effective Gene in Pan-Cancer Fusion Genes (eGinPCFGs).
DoF>8 and MAII>0
log2(10/660*10)=-2.72246602447109
possibly effective Gene in Pan-Cancer Fusion Genes (peGinPCFGs).
DoF>8 and MAII<0
Context

PubMed: COX6B1 [Title/Abstract] AND SORL1 [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
TgeneSORL1

GO:0006605

protein targeting

16407538

TgeneSORL1

GO:0006622

protein targeting to lysosome

24523320

TgeneSORL1

GO:0006892

post-Golgi vesicle-mediated transport

17855360

TgeneSORL1

GO:0014910

regulation of smooth muscle cell migration

14764453

TgeneSORL1

GO:0032091

negative regulation of protein binding

16407538

TgeneSORL1

GO:0034067

protein localization to Golgi apparatus

17855360

TgeneSORL1

GO:0045053

protein retention in Golgi apparatus

17855360

TgeneSORL1

GO:0045732

positive regulation of protein catabolic process

24523320

TgeneSORL1

GO:0051604

protein maturation

17855360

TgeneSORL1

GO:1902430

negative regulation of amyloid-beta formation

16407538|22621900

TgeneSORL1

GO:1902960

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

16407538


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
ChiTaRS3.1AA573421COX6B1chr19

36149533

-SORL1chr11

121503206

-
* 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-3UTRENST00000246554ENST00000260197COX6B1chr19

36149533

-SORL1chr11

121503206

-
5CDS-intronENST00000246554ENST00000532451COX6B1chr19

36149533

-SORL1chr11

121503206

-
5CDS-intronENST00000246554ENST00000525532COX6B1chr19

36149533

-SORL1chr11

121503206

-
5CDS-intronENST00000246554ENST00000532694COX6B1chr19

36149533

-SORL1chr11

121503206

-
5CDS-intronENST00000246554ENST00000534286COX6B1chr19

36149533

-SORL1chr11

121503206

-
5CDS-intronENST00000246554ENST00000527934COX6B1chr19

36149533

-SORL1chr11

121503206

-
5CDS-3UTRENST00000592141ENST00000260197COX6B1chr19

36149533

-SORL1chr11

121503206

-
5CDS-intronENST00000592141ENST00000532451COX6B1chr19

36149533

-SORL1chr11

121503206

-
5CDS-intronENST00000592141ENST00000525532COX6B1chr19

36149533

-SORL1chr11

121503206

-
5CDS-intronENST00000592141ENST00000532694COX6B1chr19

36149533

-SORL1chr11

121503206

-
5CDS-intronENST00000592141ENST00000534286COX6B1chr19

36149533

-SORL1chr11

121503206

-
5CDS-intronENST00000592141ENST00000527934COX6B1chr19

36149533

-SORL1chr11

121503206

-
5CDS-3UTRENST00000392201ENST00000260197COX6B1chr19

36149533

-SORL1chr11

121503206

-
5CDS-intronENST00000392201ENST00000532451COX6B1chr19

36149533

-SORL1chr11

121503206

-
5CDS-intronENST00000392201ENST00000525532COX6B1chr19

36149533

-SORL1chr11

121503206

-
5CDS-intronENST00000392201ENST00000532694COX6B1chr19

36149533

-SORL1chr11

121503206

-
5CDS-intronENST00000392201ENST00000534286COX6B1chr19

36149533

-SORL1chr11

121503206

-
5CDS-intronENST00000392201ENST00000527934COX6B1chr19

36149533

-SORL1chr11

121503206

-

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FusionProtFeatures for COX6B1_SORL1


check buttonMain function of each fusion partner protein. (from UniProt)
HgeneTgene
COX6B1

P14854

SORL1

Q92673

Connects the two COX monomers into the physiologicaldimeric form. {ECO:0000250}. 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}.

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 COX6B1_SORL1


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 COX6B1_SORL1


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 COX6B1_SORL1


check button Drugs targeting genes involved in this fusion gene.
(DrugBank Version 5.1.0 2018-04-02)
PartnerGeneUniProtAccDrugBank IDDrug nameDrug activityDrug typeDrug status
HgeneCOX6B1P14854DB02659Cholic AcidCytochrome c oxidase subunit 6B1small moleculeapproved

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RelatedDiseases for COX6B1_SORL1


check button Diseases associated with fusion partners.
(DisGeNet 4.0)
PartnerGeneDisease IDDisease name# pubmedsSource
HgeneCOX6B1C0268237Cytochrome-c Oxidase Deficiency1CTD_human;ORPHANET;UNIPROT
TgeneSORL1C0008370Cholestasis1CTD_human
TgeneSORL1C0027626Neoplasm Invasiveness1CTD_human
TgeneSORL1C4277682Chemical and Drug Induced Liver Injury1CTD_human