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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: 5254

FusionGeneSummary for CADM1_SORL1

check button Fusion gene summary
Fusion gene informationFusion gene name: CADM1_SORL1
Fusion gene ID: 5254
HgeneTgene
Gene symbol

CADM1

SORL1

Gene ID

23705

6653

Gene namecell adhesion molecule 1sortilin related receptor 1
SynonymsBL2|IGSF4|IGSF4A|NECL2|Necl-2|RA175|ST17|SYNCAM|TSLC1|sTSLC-1|sgIGSF|synCAM1C11orf32|LR11|LRP9|SORLA|SorLA-1|gp250
Cytomap

11q23.3

11q24.1

Type of geneprotein-codingprotein-coding
Descriptioncell adhesion molecule 1TSLC-1TSLC1/Nectin-like 2/IGSF4immunoglobulin superfamily member 4immunoglobulin superfamily, member 4D variant 1immunoglobulin superfamily, member 4D variant 2nectin-like 2nectin-like protein 2spermatogenic immunoglobulin 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 date2018052320180527
UniProtAcc

Q9BY67

Q92673

Ensembl transtripts involved in fusion geneENST00000452722, ENST00000537140, 
ENST00000542447, ENST00000537058, 
ENST00000536727, ENST00000331581, 
ENST00000260197, ENST00000532451, 
ENST00000525532, ENST00000532694, 
ENST00000534286, ENST00000527934, 
Fusion gene scores* DoF score5 X 4 X 3=6011 X 10 X 6=660
# samples 510
** MAII scorelog2(5/60*10)=-0.263034405833794
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: CADM1 [Title/Abstract] AND SORL1 [Title/Abstract] AND fusion [Title/Abstract]

Functional or gene categories assigned by FusionGDB annotationTumor suppressor gene involved fusion gene, retained protein feature but frameshift.
DDR (DNA damage repair) gene involved fusion gene, in-frame but not retained their domain.
* 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
HgeneCADM1

GO:0001913

T cell mediated cytotoxicity

15811952

HgeneCADM1

GO:0008037

cell recognition

15811952

HgeneCADM1

GO:0042271

susceptibility to natural killer cell mediated cytotoxicity

15811952

HgeneCADM1

GO:0045954

positive regulation of natural killer cell mediated cytotoxicity

15811952

HgeneCADM1

GO:0050715

positive regulation of cytokine secretion

15811952

HgeneCADM1

GO:0050798

activated T cell proliferation

15811952

HgeneCADM1

GO:0051606

detection of stimulus

15811952

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
TCGARVPRADTCGA-CH-5739-01ACADM1chr11

115374989

-SORL1chr11

121424646

+
* 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-shiftENST00000452722ENST00000260197CADM1chr11

115374989

-SORL1chr11

121424646

+
5CDS-intronENST00000452722ENST00000532451CADM1chr11

115374989

-SORL1chr11

121424646

+
5CDS-intronENST00000452722ENST00000525532CADM1chr11

115374989

-SORL1chr11

121424646

+
5CDS-intronENST00000452722ENST00000532694CADM1chr11

115374989

-SORL1chr11

121424646

+
5CDS-intronENST00000452722ENST00000534286CADM1chr11

115374989

-SORL1chr11

121424646

+
5CDS-intronENST00000452722ENST00000527934CADM1chr11

115374989

-SORL1chr11

121424646

+
5UTR-3CDSENST00000537140ENST00000260197CADM1chr11

115374989

-SORL1chr11

121424646

+
5UTR-intronENST00000537140ENST00000532451CADM1chr11

115374989

-SORL1chr11

121424646

+
5UTR-intronENST00000537140ENST00000525532CADM1chr11

115374989

-SORL1chr11

121424646

+
5UTR-intronENST00000537140ENST00000532694CADM1chr11

115374989

-SORL1chr11

121424646

+
5UTR-intronENST00000537140ENST00000534286CADM1chr11

115374989

-SORL1chr11

121424646

+
5UTR-intronENST00000537140ENST00000527934CADM1chr11

115374989

-SORL1chr11

121424646

+
Frame-shiftENST00000542447ENST00000260197CADM1chr11

115374989

-SORL1chr11

121424646

+
5CDS-intronENST00000542447ENST00000532451CADM1chr11

115374989

-SORL1chr11

121424646

+
5CDS-intronENST00000542447ENST00000525532CADM1chr11

115374989

-SORL1chr11

121424646

+
5CDS-intronENST00000542447ENST00000532694CADM1chr11

115374989

-SORL1chr11

121424646

+
5CDS-intronENST00000542447ENST00000534286CADM1chr11

115374989

-SORL1chr11

121424646

+
5CDS-intronENST00000542447ENST00000527934CADM1chr11

115374989

-SORL1chr11

121424646

+
Frame-shiftENST00000537058ENST00000260197CADM1chr11

115374989

-SORL1chr11

121424646

+
5CDS-intronENST00000537058ENST00000532451CADM1chr11

115374989

-SORL1chr11

121424646

+
5CDS-intronENST00000537058ENST00000525532CADM1chr11

115374989

-SORL1chr11

121424646

+
5CDS-intronENST00000537058ENST00000532694CADM1chr11

115374989

-SORL1chr11

121424646

+
5CDS-intronENST00000537058ENST00000534286CADM1chr11

115374989

-SORL1chr11

121424646

+
5CDS-intronENST00000537058ENST00000527934CADM1chr11

115374989

-SORL1chr11

121424646

+
Frame-shiftENST00000536727ENST00000260197CADM1chr11

115374989

-SORL1chr11

121424646

+
5CDS-intronENST00000536727ENST00000532451CADM1chr11

115374989

-SORL1chr11

121424646

+
5CDS-intronENST00000536727ENST00000525532CADM1chr11

115374989

-SORL1chr11

121424646

+
5CDS-intronENST00000536727ENST00000532694CADM1chr11

115374989

-SORL1chr11

121424646

+
5CDS-intronENST00000536727ENST00000534286CADM1chr11

115374989

-SORL1chr11

121424646

+
5CDS-intronENST00000536727ENST00000527934CADM1chr11

115374989

-SORL1chr11

121424646

+
Frame-shiftENST00000331581ENST00000260197CADM1chr11

115374989

-SORL1chr11

121424646

+
5CDS-intronENST00000331581ENST00000532451CADM1chr11

115374989

-SORL1chr11

121424646

+
5CDS-intronENST00000331581ENST00000525532CADM1chr11

115374989

-SORL1chr11

121424646

+
5CDS-intronENST00000331581ENST00000532694CADM1chr11

115374989

-SORL1chr11

121424646

+
5CDS-intronENST00000331581ENST00000534286CADM1chr11

115374989

-SORL1chr11

121424646

+
5CDS-intronENST00000331581ENST00000527934CADM1chr11

115374989

-SORL1chr11

121424646

+

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FusionProtFeatures for CADM1_SORL1


check buttonMain function of each fusion partner protein. (from UniProt)
HgeneTgene
CADM1

Q9BY67

SORL1

Q92673

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 CADM1_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 CADM1_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
CADM1MPP3, EPB41L3, PSMA6, LIN7A, LGALS3, CNBP, RPS15, PTPN4, CTDSPL, SPPL2BSORL1LRPAP1, 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 CADM1_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 CADM1_SORL1


check button Diseases associated with fusion partners.
(DisGeNet 4.0)
PartnerGeneDisease IDDisease name# pubmedsSource
HgeneCADM1C0004352Autistic Disorder1CTD_human
HgeneCADM1C0011581Depressive disorder1CTD_human
HgeneCADM1C1458155Mammary Neoplasms1CTD_human
TgeneSORL1C0008370Cholestasis1CTD_human
TgeneSORL1C0027626Neoplasm Invasiveness1CTD_human
TgeneSORL1C4277682Chemical and Drug Induced Liver Injury1CTD_human