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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: 35410

FusionGeneSummary for SORL1_NEK4

check button Fusion gene summary
Fusion gene informationFusion gene name: SORL1_NEK4
Fusion gene ID: 35410
HgeneTgene
Gene symbol

SORL1

NEK4

Gene ID

6653

6787

Gene namesortilin related receptor 1NIMA related kinase 4
SynonymsC11orf32|LR11|LRP9|SORLA|SorLA-1|gp250NRK2|STK2|pp12301
Cytomap

11q24.1

3p21.1

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 receptserine/threonine-protein kinase Nek4NIMA (never in mitosis gene a)-related kinase 4never in mitosis A-related kinase 4nimA-related protein kinase 4serine/threonine kinase 2serine/threonine protein kinase-2serine/threonine-protein kinase NRK2serine/
Modification date2018052720180523
UniProtAcc

Q92673

P51957

Ensembl transtripts involved in fusion geneENST00000260197, ENST00000532451, 
ENST00000525532, ENST00000532694, 
ENST00000534286, ENST00000527934, 
ENST00000233027, ENST00000535191, 
ENST00000383721, 
Fusion gene scores* DoF score13 X 10 X 7=9103 X 3 X 3=27
# samples 143
** MAII scorelog2(14/910*10)=-2.70043971814109
possibly effective Gene in Pan-Cancer Fusion Genes (peGinPCFGs).
DoF>8 and MAII<0		log2(3/27*10)=0.15200309344505
effective Gene in Pan-Cancer Fusion Genes (eGinPCFGs).
DoF>8 and MAII>0
Context

PubMed: SORL1 [Title/Abstract] AND NEK4 [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


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
TCGALDPRADTCGA-EJ-8472-01ASORL1chr11

121483541

+NEK4chr3

52743951

-
* 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-intronENST00000260197ENST00000233027SORL1chr11

121483541

+NEK4chr3

52743951

-
5CDS-intronENST00000260197ENST00000535191SORL1chr11

121483541

+NEK4chr3

52743951

-
5CDS-intronENST00000260197ENST00000383721SORL1chr11

121483541

+NEK4chr3

52743951

-
intron-intronENST00000532451ENST00000233027SORL1chr11

121483541

+NEK4chr3

52743951

-
intron-intronENST00000532451ENST00000535191SORL1chr11

121483541

+NEK4chr3

52743951

-
intron-intronENST00000532451ENST00000383721SORL1chr11

121483541

+NEK4chr3

52743951

-
5CDS-intronENST00000525532ENST00000233027SORL1chr11

121483541

+NEK4chr3

52743951

-
5CDS-intronENST00000525532ENST00000535191SORL1chr11

121483541

+NEK4chr3

52743951

-
5CDS-intronENST00000525532ENST00000383721SORL1chr11

121483541

+NEK4chr3

52743951

-
5CDS-intronENST00000532694ENST00000233027SORL1chr11

121483541

+NEK4chr3

52743951

-
5CDS-intronENST00000532694ENST00000535191SORL1chr11

121483541

+NEK4chr3

52743951

-
5CDS-intronENST00000532694ENST00000383721SORL1chr11

121483541

+NEK4chr3

52743951

-
5CDS-intronENST00000534286ENST00000233027SORL1chr11

121483541

+NEK4chr3

52743951

-
5CDS-intronENST00000534286ENST00000535191SORL1chr11

121483541

+NEK4chr3

52743951

-
5CDS-intronENST00000534286ENST00000383721SORL1chr11

121483541

+NEK4chr3

52743951

-
5CDS-intronENST00000527934ENST00000233027SORL1chr11

121483541

+NEK4chr3

52743951

-
5CDS-intronENST00000527934ENST00000535191SORL1chr11

121483541

+NEK4chr3

52743951

-
5CDS-intronENST00000527934ENST00000383721SORL1chr11

121483541

+NEK4chr3

52743951

-

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FusionProtFeatures for SORL1_NEK4


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

Q92673

NEK4

P51957

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}. Protein kinase that seems to act exclusively uponthreonine residues (By similarity). Required for normal entry intoproliferative arrest after a limited number of cell divisions,also called replicative senescence. Required for normal cell cyclearrest in response to double-stranded DNA damage.{ECO:0000250|UniProtKB:Q9Z1J2, ECO:0000269|PubMed:22851694}.

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_NEK4


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_NEK4


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, CEP97NEK4ANKRD28, C4BPB, CTDSP2, SPACA1, NRG1, DNAJB2, PLAUR, TXNDC15, HLA-B, HLA-C, SDF4, HLA-E, SKAP1, CBWD1, CBWD2, ISLR, RPGRIP1L, RPGRIP1, XPO1, C1orf85, CD79A, PCDHA12, PRKAB1, LAMP3, SLC18A1, PCDHB11, PCDHGB1, TUBA3C, TUBB1, SLC25A4, HSP90AB2P, CTNNA1, HSP90AB3P, BLM, NPHP4, RPGR


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_NEK4


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_NEK4


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
TgeneNEK4C0005586Bipolar Disorder2PSYGENET