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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: 24999

FusionGeneSummary for NTM_SORL1

check button Fusion gene summary
Fusion gene informationFusion gene name: NTM_SORL1
Fusion gene ID: 24999
HgeneTgene
Gene symbol

NTM

SORL1

Gene ID

50863

6653

Gene nameneurotriminsortilin related receptor 1
SynonymsCEPU-1|HNT|IGLON2|NTRIC11orf32|LR11|LRP9|SORLA|SorLA-1|gp250
Cytomap

11q25

11q24.1

Type of geneprotein-codingprotein-coding
DescriptionneurotriminIgLON family member 2sortilin-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

Q9P121

Q92673

Ensembl transtripts involved in fusion geneENST00000374791, ENST00000539799, 
ENST00000427481, ENST00000374786, 
ENST00000425719, ENST00000374784, 
ENST00000474900, 
ENST00000260197, 
ENST00000532451, ENST00000525532, 
ENST00000532694, ENST00000534286, 
ENST00000527934, 
Fusion gene scores* DoF score5 X 4 X 4=8011 X 10 X 6=660
# samples 510
** MAII scorelog2(5/80*10)=-0.678071905112638
possibly effective Gene in Pan-Cancer Fusion Genes (peGinPCFGs).
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: NTM [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
TCGARVSARCTCGA-K1-A6RV-01ANTMchr11

131781542

+SORL1chr11

121475822

+
* 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
Frame-shiftENST00000374791ENST00000260197NTMchr11

131781542

+SORL1chr11

121475822

+
5CDS-intronENST00000374791ENST00000532451NTMchr11

131781542

+SORL1chr11

121475822

+
5CDS-intronENST00000374791ENST00000525532NTMchr11

131781542

+SORL1chr11

121475822

+
5CDS-intronENST00000374791ENST00000532694NTMchr11

131781542

+SORL1chr11

121475822

+
5CDS-intronENST00000374791ENST00000534286NTMchr11

131781542

+SORL1chr11

121475822

+
5CDS-intronENST00000374791ENST00000527934NTMchr11

131781542

+SORL1chr11

121475822

+
Frame-shiftENST00000539799ENST00000260197NTMchr11

131781542

+SORL1chr11

121475822

+
5CDS-intronENST00000539799ENST00000532451NTMchr11

131781542

+SORL1chr11

121475822

+
5CDS-intronENST00000539799ENST00000525532NTMchr11

131781542

+SORL1chr11

121475822

+
5CDS-intronENST00000539799ENST00000532694NTMchr11

131781542

+SORL1chr11

121475822

+
5CDS-intronENST00000539799ENST00000534286NTMchr11

131781542

+SORL1chr11

121475822

+
5CDS-intronENST00000539799ENST00000527934NTMchr11

131781542

+SORL1chr11

121475822

+
Frame-shiftENST00000427481ENST00000260197NTMchr11

131781542

+SORL1chr11

121475822

+
5CDS-intronENST00000427481ENST00000532451NTMchr11

131781542

+SORL1chr11

121475822

+
5CDS-intronENST00000427481ENST00000525532NTMchr11

131781542

+SORL1chr11

121475822

+
5CDS-intronENST00000427481ENST00000532694NTMchr11

131781542

+SORL1chr11

121475822

+
5CDS-intronENST00000427481ENST00000534286NTMchr11

131781542

+SORL1chr11

121475822

+
5CDS-intronENST00000427481ENST00000527934NTMchr11

131781542

+SORL1chr11

121475822

+
Frame-shiftENST00000374786ENST00000260197NTMchr11

131781542

+SORL1chr11

121475822

+
5CDS-intronENST00000374786ENST00000532451NTMchr11

131781542

+SORL1chr11

121475822

+
5CDS-intronENST00000374786ENST00000525532NTMchr11

131781542

+SORL1chr11

121475822

+
5CDS-intronENST00000374786ENST00000532694NTMchr11

131781542

+SORL1chr11

121475822

+
5CDS-intronENST00000374786ENST00000534286NTMchr11

131781542

+SORL1chr11

121475822

+
5CDS-intronENST00000374786ENST00000527934NTMchr11

131781542

+SORL1chr11

121475822

+
Frame-shiftENST00000425719ENST00000260197NTMchr11

131781542

+SORL1chr11

121475822

+
5CDS-intronENST00000425719ENST00000532451NTMchr11

131781542

+SORL1chr11

121475822

+
5CDS-intronENST00000425719ENST00000525532NTMchr11

131781542

+SORL1chr11

121475822

+
5CDS-intronENST00000425719ENST00000532694NTMchr11

131781542

+SORL1chr11

121475822

+
5CDS-intronENST00000425719ENST00000534286NTMchr11

131781542

+SORL1chr11

121475822

+
5CDS-intronENST00000425719ENST00000527934NTMchr11

131781542

+SORL1chr11

121475822

+
Frame-shiftENST00000374784ENST00000260197NTMchr11

131781542

+SORL1chr11

121475822

+
5CDS-intronENST00000374784ENST00000532451NTMchr11

131781542

+SORL1chr11

121475822

+
5CDS-intronENST00000374784ENST00000525532NTMchr11

131781542

+SORL1chr11

121475822

+
5CDS-intronENST00000374784ENST00000532694NTMchr11

131781542

+SORL1chr11

121475822

+
5CDS-intronENST00000374784ENST00000534286NTMchr11

131781542

+SORL1chr11

121475822

+
5CDS-intronENST00000374784ENST00000527934NTMchr11

131781542

+SORL1chr11

121475822

+
intron-3CDSENST00000474900ENST00000260197NTMchr11

131781542

+SORL1chr11

121475822

+
intron-intronENST00000474900ENST00000532451NTMchr11

131781542

+SORL1chr11

121475822

+
intron-intronENST00000474900ENST00000525532NTMchr11

131781542

+SORL1chr11

121475822

+
intron-intronENST00000474900ENST00000532694NTMchr11

131781542

+SORL1chr11

121475822

+
intron-intronENST00000474900ENST00000534286NTMchr11

131781542

+SORL1chr11

121475822

+
intron-intronENST00000474900ENST00000527934NTMchr11

131781542

+SORL1chr11

121475822

+

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FusionProtFeatures for NTM_SORL1


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

Q9P121

SORL1

Q92673

Neural cell adhesion molecule. 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 NTM_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 NTM_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
NTMAPP, LSAMP, NEGR1, NTM, CCKBR, KRTAP5-9, KRTAP3-2, C19orf47, HAX1, NUFIP1, DGUOK, OPCML, CALR, PDIA5, FBXO2SORL1LRPAP1, 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, CEP97


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 NTM_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

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RelatedDiseases for NTM_SORL1


check button Diseases associated with fusion partners.
(DisGeNet 4.0)
PartnerGeneDisease IDDisease name# pubmedsSource
HgeneNTMC0041696Unipolar Depression1PSYGENET
HgeneNTMC1269683Major Depressive Disorder1PSYGENET
TgeneSORL1C0008370Cholestasis1CTD_human
TgeneSORL1C0027626Neoplasm Invasiveness1CTD_human
TgeneSORL1C4277682Chemical and Drug Induced Liver Injury1CTD_human