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Center for Computational Systems Medicine
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Fusion Gene Summary

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Fusion Gene ORF analysis

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Fusion Genomic Features

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Fusion Protein Features

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Fusion Gene Sequence

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Fusion Gene PPI analysis

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Related Drugs

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Related Diseases

Fusion gene:CADM1-SORL1 (FusionGDB2 ID:12446)

Fusion Gene Summary for CADM1-SORL1

check button Fusion gene summary
Fusion gene informationFusion gene name: CADM1-SORL1
Fusion gene ID: 12446
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 date2020031320200327
UniProtAcc

Q9BY67

.
Ensembl transtripts involved in fusion geneENST00000331581, ENST00000452722, 
ENST00000536727, ENST00000537058, 
ENST00000542447, ENST00000537140, 
ENST00000525532, ENST00000527934, 
ENST00000532451, ENST00000532694, 
ENST00000534286, ENST00000260197, 
Fusion gene scores* DoF score7 X 5 X 4=14015 X 16 X 6=1440
# samples 816
** MAII scorelog2(8/140*10)=-0.807354922057604
possibly effective Gene in Pan-Cancer Fusion Genes (peGinPCFGs).
DoF>8 and MAII<0		log2(16/1440*10)=-3.16992500144231
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]

Most frequent breakpointCADM1(115374989)-SORL1(121424646), # samples:3
Anticipated loss of major functional domain due to fusion event.CADM1-SORL1 seems lost the major protein functional domain in Hgene partner, which is a essential gene due to the frame-shifted ORF.
CADM1-SORL1 seems lost the major protein functional domain in Hgene partner, which is a tumor suppressor due to the frame-shifted ORF.
* 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|21385844|27322061

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:0038020

insulin receptor recycling

27322061

TgeneSORL1

GO:0045053

protein retention in Golgi apparatus

17855360

TgeneSORL1

GO:0045732

positive regulation of protein catabolic process

24523320

TgeneSORL1

GO:0046628

positive regulation of insulin receptor signaling pathway

27322061

TgeneSORL1

GO:0051604

protein maturation

17855360

TgeneSORL1

GO:1900168

positive regulation of glial cell-derived neurotrophic factor secretion

21994944

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

TgeneSORL1

GO:1904179

positive regulation of adipose tissue development

27322061


check buttonFusion gene breakpoints across CADM1 (5'-gene)
* Click on the image to open the UCSC genome browser with custom track showing this image in a new window.

check buttonFusion gene breakpoints across SORL1 (3'-gene)
* Click on the image to open the UCSC genome browser with custom track showing this image in a new window.

check button Fusion gene information from two resources (ChiTars 5.0 and ChimerDB 4.0)
* 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.
SourceDiseaseSampleHgeneHchrHbpHstrandTgeneTchrTbpTstrand
ChimerDB4PRADTCGA-CH-5739-01ACADM1chr11

115374989

-SORL1chr11

121424646

+
ChimerDB4PRADTCGA-CH-5739CADM1chr11

115374988

-SORL1chr11

121424645

+
ChimerDB4PRADTCGA-CH-5739CADM1chr11

115374989

-SORL1chr11

121424646

+


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Fusion Gene ORF analysis for CADM1-SORL1

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-intronENST00000331581ENST00000525532CADM1chr11

115374989

-SORL1chr11

121424646

+
5CDS-intronENST00000331581ENST00000525532CADM1chr11

115374988

-SORL1chr11

121424645

+
5CDS-intronENST00000331581ENST00000527934CADM1chr11

115374989

-SORL1chr11

121424646

+
5CDS-intronENST00000331581ENST00000527934CADM1chr11

115374988

-SORL1chr11

121424645

+
5CDS-intronENST00000331581ENST00000532451CADM1chr11

115374989

-SORL1chr11

121424646

+
5CDS-intronENST00000331581ENST00000532451CADM1chr11

115374988

-SORL1chr11

121424645

+
5CDS-intronENST00000331581ENST00000532694CADM1chr11

115374989

-SORL1chr11

121424646

+
5CDS-intronENST00000331581ENST00000532694CADM1chr11

115374988

-SORL1chr11

121424645

+
5CDS-intronENST00000331581ENST00000534286CADM1chr11

115374989

-SORL1chr11

121424646

+
5CDS-intronENST00000331581ENST00000534286CADM1chr11

115374988

-SORL1chr11

121424645

+
5CDS-intronENST00000452722ENST00000525532CADM1chr11

115374989

-SORL1chr11

121424646

+
5CDS-intronENST00000452722ENST00000525532CADM1chr11

115374988

-SORL1chr11

121424645

+
5CDS-intronENST00000452722ENST00000527934CADM1chr11

115374989

-SORL1chr11

121424646

+
5CDS-intronENST00000452722ENST00000527934CADM1chr11

115374988

-SORL1chr11

121424645

+
5CDS-intronENST00000452722ENST00000532451CADM1chr11

115374989

-SORL1chr11

121424646

+
5CDS-intronENST00000452722ENST00000532451CADM1chr11

115374988

-SORL1chr11

121424645

+
5CDS-intronENST00000452722ENST00000532694CADM1chr11

115374989

-SORL1chr11

121424646

+
5CDS-intronENST00000452722ENST00000532694CADM1chr11

115374988

-SORL1chr11

121424645

+
5CDS-intronENST00000452722ENST00000534286CADM1chr11

115374989

-SORL1chr11

121424646

+
5CDS-intronENST00000452722ENST00000534286CADM1chr11

115374988

-SORL1chr11

121424645

+
5CDS-intronENST00000536727ENST00000525532CADM1chr11

115374989

-SORL1chr11

121424646

+
5CDS-intronENST00000536727ENST00000525532CADM1chr11

115374988

-SORL1chr11

121424645

+
5CDS-intronENST00000536727ENST00000527934CADM1chr11

115374989

-SORL1chr11

121424646

+
5CDS-intronENST00000536727ENST00000527934CADM1chr11

115374988

-SORL1chr11

121424645

+
5CDS-intronENST00000536727ENST00000532451CADM1chr11

115374989

-SORL1chr11

121424646

+
5CDS-intronENST00000536727ENST00000532451CADM1chr11

115374988

-SORL1chr11

121424645

+
5CDS-intronENST00000536727ENST00000532694CADM1chr11

115374989

-SORL1chr11

121424646

+
5CDS-intronENST00000536727ENST00000532694CADM1chr11

115374988

-SORL1chr11

121424645

+
5CDS-intronENST00000536727ENST00000534286CADM1chr11

115374989

-SORL1chr11

121424646

+
5CDS-intronENST00000536727ENST00000534286CADM1chr11

115374988

-SORL1chr11

121424645

+
5CDS-intronENST00000537058ENST00000525532CADM1chr11

115374989

-SORL1chr11

121424646

+
5CDS-intronENST00000537058ENST00000525532CADM1chr11

115374988

-SORL1chr11

121424645

+
5CDS-intronENST00000537058ENST00000527934CADM1chr11

115374989

-SORL1chr11

121424646

+
5CDS-intronENST00000537058ENST00000527934CADM1chr11

115374988

-SORL1chr11

121424645

+
5CDS-intronENST00000537058ENST00000532451CADM1chr11

115374989

-SORL1chr11

121424646

+
5CDS-intronENST00000537058ENST00000532451CADM1chr11

115374988

-SORL1chr11

121424645

+
5CDS-intronENST00000537058ENST00000532694CADM1chr11

115374989

-SORL1chr11

121424646

+
5CDS-intronENST00000537058ENST00000532694CADM1chr11

115374988

-SORL1chr11

121424645

+
5CDS-intronENST00000537058ENST00000534286CADM1chr11

115374989

-SORL1chr11

121424646

+
5CDS-intronENST00000537058ENST00000534286CADM1chr11

115374988

-SORL1chr11

121424645

+
5CDS-intronENST00000542447ENST00000525532CADM1chr11

115374989

-SORL1chr11

121424646

+
5CDS-intronENST00000542447ENST00000525532CADM1chr11

115374988

-SORL1chr11

121424645

+
5CDS-intronENST00000542447ENST00000527934CADM1chr11

115374989

-SORL1chr11

121424646

+
5CDS-intronENST00000542447ENST00000527934CADM1chr11

115374988

-SORL1chr11

121424645

+
5CDS-intronENST00000542447ENST00000532451CADM1chr11

115374989

-SORL1chr11

121424646

+
5CDS-intronENST00000542447ENST00000532451CADM1chr11

115374988

-SORL1chr11

121424645

+
5CDS-intronENST00000542447ENST00000532694CADM1chr11

115374989

-SORL1chr11

121424646

+
5CDS-intronENST00000542447ENST00000532694CADM1chr11

115374988

-SORL1chr11

121424645

+
5CDS-intronENST00000542447ENST00000534286CADM1chr11

115374989

-SORL1chr11

121424646

+
5CDS-intronENST00000542447ENST00000534286CADM1chr11

115374988

-SORL1chr11

121424645

+
5UTR-3CDSENST00000537140ENST00000260197CADM1chr11

115374989

-SORL1chr11

121424646

+
5UTR-3CDSENST00000537140ENST00000260197CADM1chr11

115374988

-SORL1chr11

121424645

+
5UTR-intronENST00000537140ENST00000525532CADM1chr11

115374989

-SORL1chr11

121424646

+
5UTR-intronENST00000537140ENST00000525532CADM1chr11

115374988

-SORL1chr11

121424645

+
5UTR-intronENST00000537140ENST00000527934CADM1chr11

115374989

-SORL1chr11

121424646

+
5UTR-intronENST00000537140ENST00000527934CADM1chr11

115374988

-SORL1chr11

121424645

+
5UTR-intronENST00000537140ENST00000532451CADM1chr11

115374989

-SORL1chr11

121424646

+
5UTR-intronENST00000537140ENST00000532451CADM1chr11

115374988

-SORL1chr11

121424645

+
5UTR-intronENST00000537140ENST00000532694CADM1chr11

115374989

-SORL1chr11

121424646

+
5UTR-intronENST00000537140ENST00000532694CADM1chr11

115374988

-SORL1chr11

121424645

+
5UTR-intronENST00000537140ENST00000534286CADM1chr11

115374989

-SORL1chr11

121424646

+
5UTR-intronENST00000537140ENST00000534286CADM1chr11

115374988

-SORL1chr11

121424645

+
Frame-shiftENST00000331581ENST00000260197CADM1chr11

115374989

-SORL1chr11

121424646

+
Frame-shiftENST00000331581ENST00000260197CADM1chr11

115374988

-SORL1chr11

121424645

+
Frame-shiftENST00000452722ENST00000260197CADM1chr11

115374989

-SORL1chr11

121424646

+
Frame-shiftENST00000452722ENST00000260197CADM1chr11

115374988

-SORL1chr11

121424645

+
Frame-shiftENST00000536727ENST00000260197CADM1chr11

115374989

-SORL1chr11

121424646

+
Frame-shiftENST00000536727ENST00000260197CADM1chr11

115374988

-SORL1chr11

121424645

+
Frame-shiftENST00000537058ENST00000260197CADM1chr11

115374989

-SORL1chr11

121424646

+
Frame-shiftENST00000537058ENST00000260197CADM1chr11

115374988

-SORL1chr11

121424645

+
Frame-shiftENST00000542447ENST00000260197CADM1chr11

115374989

-SORL1chr11

121424646

+
Frame-shiftENST00000542447ENST00000260197CADM1chr11

115374988

-SORL1chr11

121424645

+

check buttonORFfinder result based on the fusion transcript sequence of in-frame fusion genes.
HenstTenstHgeneHchrHbpHstrandTgeneTchrTbpTstrandSeq length
(transcript)		BP loci
(transcript)		Predicted start
(transcript)		Predicted stop
(transcript)		Seq length
(amino acids)

check buttonDeepORF prediction of the coding potential based on the fusion transcript sequence of in-frame fusion genes. DeepORF is a coding potential classifier based on convolutional neural network by comparing the real Ribo-seq data. If the no-coding score < 0.5 and coding score > 0.5, then the in-frame fusion transcript is predicted as being likely translated.
HenstTenstHgeneHchrHbpHstrandTgeneTchrTbpTstrandNo-coding scoreCoding score

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Fusion Genomic Features for CADM1-SORL1


check buttonFusionAI prediction of the potential fusion gene breakpoint based on the pre-mature RNA sequence context (+/- 5kb of individual partner genes, total 20kb length sequence). FusionAI is a fusion gene breakpoint classifier based on convolutional neural network by comparing the fusion positive and negative sequence context of ~ 20K fusion gene data. From here, we can have the relative potentency of the 20K genomic sequence how individual sequnce will be likely used as the gene fusion breakpoints.
HgeneHchrHbpHstrandTgeneTchrTbpTstrand1-pp (fusion gene breakpoint)
CADM1chr11115374988-SORL1chr11121424645+0.0002753850.99972457
CADM1chr11115374988-SORL1chr11121424645+0.0002753850.99972457
CADM1chr11115374988-SORL1chr11121424645+0.0002753850.99972457
CADM1chr11115374988-SORL1chr11121424645+0.0002753850.99972457

check buttonDistribution of 44 human genomic features loci across 20kb length fusion breakpoint regions. We integrated a total of 44 different types of human genomic feature loci information across five big categories including virus integration sites, repeats, structural variants, chromatin states, and gene expression regulation. More details are in help page.

check buttonDistribution of 44 human genomic features loci across 20kb length fusion breakpoint regions that are ovelapped with the top 1% feature importance score regions. More details are in help page.
genomic feature of top 1%

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Fusion Protein Features for CADM1-SORL1


check button Four levels of functional features of fusion genes
Go to FGviewer search page for the most frequent breakpoint (https://ccsmweb.uth.edu/FGviewer/:115374989/:121424646)
- FGviewer provides the online visualization of the retention search of the protein functional features across DNA, RNA, protein, and pathological levels.
- How to search
1. Put your fusion gene symbol.
2. Press the tab key until there will be shown the breakpoint information filled.
4. Go down and press 'Search' tab twice.
4. Go down to have the hyperlink of the search result.
5. Click the hyperlink.
6. See the FGviewer result for your fusion gene.
FGviewer

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

Q9BY67

.
FUNCTION: Mediates homophilic cell-cell adhesion in a Ca(2+)-independent manner (PubMed:22438059, PubMed:12050160). Also mediates heterophilic cell-cell adhesion with CADM3 and NECTIN3 in a Ca(2+)-independent manner (By similarity). Interaction with CRTAM promotes natural killer (NK) cell cytotoxicity and interferon-gamma (IFN-gamma) secretion by CD8+ cells in vitro as well as NK cell-mediated rejection of tumors expressing CADM1 in vivo (PubMed:15811952). In mast cells, may mediate attachment to and promote communication with nerves (PubMed:15905536). CADM1, together with MITF, is essential for development and survival of mast cells in vivo (PubMed:22438059). By interacting with CRTAM and thus promoting the adhesion between CD8+ T-cells and CD8+ dendritic cells, regulates the retention of activated CD8+ T-cell within the draining lymph node (By similarity). Required for the intestinal retention of intraepithelial CD4+ CD8+ T-cells and, to a lesser extent, intraepithelial and lamina propria CD8+ T-cells and CD4+ T-cells (By similarity). Interaction with CRTAM promotes the adhesion to gut-associated CD103+ dendritic cells, which may facilitate the expression of gut-homing and adhesion molecules on T-cells and the conversion of CD4+ T-cells into CD4+ CD8+ T-cells (By similarity). Acts as a synaptic cell adhesion molecule and plays a role in the formation of dendritic spines and in synapse assembly (By similarity). May be involved in neuronal migration, axon growth, pathfinding, and fasciculation on the axons of differentiating neurons (By similarity). May play diverse roles in the spermatogenesis including in the adhesion of spermatocytes and spermatids to Sertoli cells and for their normal differentiation into mature spermatozoa (By similarity). Acts as a tumor suppressor in non-small-cell lung cancer (NSCLC) cells (PubMed:11279526, PubMed:12234973). May contribute to the less invasive phenotypes of lepidic growth tumor cells (PubMed:12920246). {ECO:0000250|UniProtKB:Q8R5M8, ECO:0000269|PubMed:11279526, ECO:0000269|PubMed:12050160, ECO:0000269|PubMed:12234973, ECO:0000269|PubMed:12920246, ECO:0000269|PubMed:15811952, ECO:0000269|PubMed:15905536, ECO:0000269|PubMed:22438059}.FUNCTION: Transcriptional activator which is required for calcium-dependent dendritic growth and branching in cortical neurons. Recruits CREB-binding protein (CREBBP) to nuclear bodies. Component of the CREST-BRG1 complex, a multiprotein complex that regulates promoter activation by orchestrating a calcium-dependent release of a repressor complex and a recruitment of an activator complex. In resting neurons, transcription of the c-FOS promoter is inhibited by BRG1-dependent recruitment of a phospho-RB1-HDAC1 repressor complex. Upon calcium influx, RB1 is dephosphorylated by calcineurin, which leads to release of the repressor complex. At the same time, there is increased recruitment of CREBBP to the promoter by a CREST-dependent mechanism, which leads to transcriptional activation. The CREST-BRG1 complex also binds to the NR2B promoter, and activity-dependent induction of NR2B expression involves a release of HDAC1 and recruitment of CREBBP (By similarity). {ECO:0000250}.

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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Fusion Gene Sequence for CADM1-SORL1


check button For in-frame fusion transcripts, we provide the fusion transcript sequences and fusion amino acid sequences. To have fusion amino acid sequence, we ran ORFfinder and chose the longest ORF among the all predicted ones.

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Fusion Gene PPI Analysis 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


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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Related Drugs for CADM1-SORL1


check button Drugs targeting genes involved in this fusion gene.
(DrugBank Version 5.1.8 2021-05-08)
PartnerGeneUniProtAccDrugBank IDDrug nameDrug activityDrug typeDrug status

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Related Diseases for CADM1-SORL1


check button Diseases associated with fusion partners.
(DisGeNet 4.0)
PartnerGeneDisease IDDisease name# pubmedsSource