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Fusion gene ID: 5254 |
FusionGeneSummary for CADM1_SORL1 |
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Fusion gene information | Fusion gene name: CADM1_SORL1 | Fusion gene ID: 5254 | Hgene | Tgene | Gene symbol | CADM1 | SORL1 | Gene ID | 23705 | 6653 |
Gene name | cell adhesion molecule 1 | sortilin related receptor 1 | |
Synonyms | BL2|IGSF4|IGSF4A|NECL2|Necl-2|RA175|ST17|SYNCAM|TSLC1|sTSLC-1|sgIGSF|synCAM1 | C11orf32|LR11|LRP9|SORLA|SorLA-1|gp250 | |
Cytomap | 11q23.3 | 11q24.1 | |
Type of gene | protein-coding | protein-coding | |
Description | cell 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 date | 20180523 | 20180527 | |
UniProtAcc | Q9BY67 | Q92673 | |
Ensembl transtripts involved in fusion gene | ENST00000452722, ENST00000537140, ENST00000542447, ENST00000537058, ENST00000536727, ENST00000331581, | ENST00000260197, ENST00000532451, ENST00000525532, ENST00000532694, ENST00000534286, ENST00000527934, | |
Fusion gene scores | * DoF score | 5 X 4 X 3=60 | 11 X 10 X 6=660 |
# samples | 5 | 10 | |
** MAII score | log2(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 annotation | Tumor 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) |
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Partner | Gene | GO ID | GO term | PubMed ID |
Hgene | CADM1 | GO:0001913 | T cell mediated cytotoxicity | 15811952 |
Hgene | CADM1 | GO:0008037 | cell recognition | 15811952 |
Hgene | CADM1 | GO:0042271 | susceptibility to natural killer cell mediated cytotoxicity | 15811952 |
Hgene | CADM1 | GO:0045954 | positive regulation of natural killer cell mediated cytotoxicity | 15811952 |
Hgene | CADM1 | GO:0050715 | positive regulation of cytokine secretion | 15811952 |
Hgene | CADM1 | GO:0050798 | activated T cell proliferation | 15811952 |
Hgene | CADM1 | GO:0051606 | detection of stimulus | 15811952 |
Tgene | SORL1 | GO:0006605 | protein targeting | 16407538 |
Tgene | SORL1 | GO:0006622 | protein targeting to lysosome | 24523320 |
Tgene | SORL1 | GO:0006892 | post-Golgi vesicle-mediated transport | 17855360 |
Tgene | SORL1 | GO:0014910 | regulation of smooth muscle cell migration | 14764453 |
Tgene | SORL1 | GO:0032091 | negative regulation of protein binding | 16407538 |
Tgene | SORL1 | GO:0034067 | protein localization to Golgi apparatus | 17855360 |
Tgene | SORL1 | GO:0045053 | protein retention in Golgi apparatus | 17855360 |
Tgene | SORL1 | GO:0045732 | positive regulation of protein catabolic process | 24523320 |
Tgene | SORL1 | GO:0051604 | protein maturation | 17855360 |
Tgene | SORL1 | GO:1902430 | negative regulation of amyloid-beta formation | 16407538|22621900 |
Tgene | SORL1 | GO:1902960 | negative regulation of aspartic-type endopeptidase activity involved in amyloid precursor protein catabolic process | 16407538 |
![]() (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 type | Source | Cancer type | Sample | Hgene | Hchr | Hbp | Hstrand | Tgene | Tchr | Tbp | Tstrand |
TCGA | RV | PRAD | TCGA-CH-5739-01A | CADM1 | chr11 | 115374989 | - | SORL1 | chr11 | 121424646 | + |
* LD: Li Ding group's fusion gene list RV: Roel Verhaak group's fusion gene list ChiTaRs fusion database |
![]() * Click on the break point to see the gene structure around the break point region using the UCSC Genome Browser. |
ORF | Henst | Tenst | Hgene | Hchr | Hbp | Hstrand | Tgene | Tchr | Tbp | Tstrand |
Frame-shift | ENST00000452722 | ENST00000260197 | CADM1 | chr11 | 115374989 | - | SORL1 | chr11 | 121424646 | + |
5CDS-intron | ENST00000452722 | ENST00000532451 | CADM1 | chr11 | 115374989 | - | SORL1 | chr11 | 121424646 | + |
5CDS-intron | ENST00000452722 | ENST00000525532 | CADM1 | chr11 | 115374989 | - | SORL1 | chr11 | 121424646 | + |
5CDS-intron | ENST00000452722 | ENST00000532694 | CADM1 | chr11 | 115374989 | - | SORL1 | chr11 | 121424646 | + |
5CDS-intron | ENST00000452722 | ENST00000534286 | CADM1 | chr11 | 115374989 | - | SORL1 | chr11 | 121424646 | + |
5CDS-intron | ENST00000452722 | ENST00000527934 | CADM1 | chr11 | 115374989 | - | SORL1 | chr11 | 121424646 | + |
5UTR-3CDS | ENST00000537140 | ENST00000260197 | CADM1 | chr11 | 115374989 | - | SORL1 | chr11 | 121424646 | + |
5UTR-intron | ENST00000537140 | ENST00000532451 | CADM1 | chr11 | 115374989 | - | SORL1 | chr11 | 121424646 | + |
5UTR-intron | ENST00000537140 | ENST00000525532 | CADM1 | chr11 | 115374989 | - | SORL1 | chr11 | 121424646 | + |
5UTR-intron | ENST00000537140 | ENST00000532694 | CADM1 | chr11 | 115374989 | - | SORL1 | chr11 | 121424646 | + |
5UTR-intron | ENST00000537140 | ENST00000534286 | CADM1 | chr11 | 115374989 | - | SORL1 | chr11 | 121424646 | + |
5UTR-intron | ENST00000537140 | ENST00000527934 | CADM1 | chr11 | 115374989 | - | SORL1 | chr11 | 121424646 | + |
Frame-shift | ENST00000542447 | ENST00000260197 | CADM1 | chr11 | 115374989 | - | SORL1 | chr11 | 121424646 | + |
5CDS-intron | ENST00000542447 | ENST00000532451 | CADM1 | chr11 | 115374989 | - | SORL1 | chr11 | 121424646 | + |
5CDS-intron | ENST00000542447 | ENST00000525532 | CADM1 | chr11 | 115374989 | - | SORL1 | chr11 | 121424646 | + |
5CDS-intron | ENST00000542447 | ENST00000532694 | CADM1 | chr11 | 115374989 | - | SORL1 | chr11 | 121424646 | + |
5CDS-intron | ENST00000542447 | ENST00000534286 | CADM1 | chr11 | 115374989 | - | SORL1 | chr11 | 121424646 | + |
5CDS-intron | ENST00000542447 | ENST00000527934 | CADM1 | chr11 | 115374989 | - | SORL1 | chr11 | 121424646 | + |
Frame-shift | ENST00000537058 | ENST00000260197 | CADM1 | chr11 | 115374989 | - | SORL1 | chr11 | 121424646 | + |
5CDS-intron | ENST00000537058 | ENST00000532451 | CADM1 | chr11 | 115374989 | - | SORL1 | chr11 | 121424646 | + |
5CDS-intron | ENST00000537058 | ENST00000525532 | CADM1 | chr11 | 115374989 | - | SORL1 | chr11 | 121424646 | + |
5CDS-intron | ENST00000537058 | ENST00000532694 | CADM1 | chr11 | 115374989 | - | SORL1 | chr11 | 121424646 | + |
5CDS-intron | ENST00000537058 | ENST00000534286 | CADM1 | chr11 | 115374989 | - | SORL1 | chr11 | 121424646 | + |
5CDS-intron | ENST00000537058 | ENST00000527934 | CADM1 | chr11 | 115374989 | - | SORL1 | chr11 | 121424646 | + |
Frame-shift | ENST00000536727 | ENST00000260197 | CADM1 | chr11 | 115374989 | - | SORL1 | chr11 | 121424646 | + |
5CDS-intron | ENST00000536727 | ENST00000532451 | CADM1 | chr11 | 115374989 | - | SORL1 | chr11 | 121424646 | + |
5CDS-intron | ENST00000536727 | ENST00000525532 | CADM1 | chr11 | 115374989 | - | SORL1 | chr11 | 121424646 | + |
5CDS-intron | ENST00000536727 | ENST00000532694 | CADM1 | chr11 | 115374989 | - | SORL1 | chr11 | 121424646 | + |
5CDS-intron | ENST00000536727 | ENST00000534286 | CADM1 | chr11 | 115374989 | - | SORL1 | chr11 | 121424646 | + |
5CDS-intron | ENST00000536727 | ENST00000527934 | CADM1 | chr11 | 115374989 | - | SORL1 | chr11 | 121424646 | + |
Frame-shift | ENST00000331581 | ENST00000260197 | CADM1 | chr11 | 115374989 | - | SORL1 | chr11 | 121424646 | + |
5CDS-intron | ENST00000331581 | ENST00000532451 | CADM1 | chr11 | 115374989 | - | SORL1 | chr11 | 121424646 | + |
5CDS-intron | ENST00000331581 | ENST00000525532 | CADM1 | chr11 | 115374989 | - | SORL1 | chr11 | 121424646 | + |
5CDS-intron | ENST00000331581 | ENST00000532694 | CADM1 | chr11 | 115374989 | - | SORL1 | chr11 | 121424646 | + |
5CDS-intron | ENST00000331581 | ENST00000534286 | CADM1 | chr11 | 115374989 | - | SORL1 | chr11 | 121424646 | + |
5CDS-intron | ENST00000331581 | ENST00000527934 | CADM1 | chr11 | 115374989 | - | SORL1 | chr11 | 121424646 | + |
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FusionProtFeatures for CADM1_SORL1 |
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Hgene | Tgene |
CADM1 | SORL1 |
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}. |
![]() * 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. |
Partner | Gene | Hbp | Tbp | ENST | Strand | BPexon | TotalExon | Protein feature loci | *BPloci | TotalLen | Protein feature | Protein feature note |
- In-frame and not-retained protein feature among the 13 regional features. |
Partner | Gene | Hbp | Tbp | ENST | Strand | BPexon | TotalExon | Protein feature loci | *BPloci | TotalLen | Protein feature | Protein feature note |
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FusionGeneSequence for CADM1_SORL1 |
![]() (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 |
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Hgene | Hgene's interactors | Tgene | Tgene's interactors |
CADM1 | MPP3, EPB41L3, PSMA6, LIN7A, LGALS3, CNBP, RPS15, PTPN4, CTDSPL, SPPL2B | SORL1 | LRPAP1, 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 |
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Partner | Gene | Hbp | Tbp | ENST | Strand | BPexon | TotalExon | Protein feature loci | *BPloci | TotalLen | Still interaction with |
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Partner | Gene | Hbp | Tbp | ENST | Strand | BPexon | TotalExon | Protein feature loci | *BPloci | TotalLen | Interaction lost with |
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Partner | Gene | Hbp | Tbp | ENST | Strand | BPexon | TotalExon | Protein feature loci | *BPloci | TotalLen | Interaction lost with |
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RelatedDrugs for CADM1_SORL1 |
![]() (DrugBank Version 5.1.0 2018-04-02) |
Partner | Gene | UniProtAcc | DrugBank ID | Drug name | Drug activity | Drug type | Drug status |
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RelatedDiseases for CADM1_SORL1 |
![]() (DisGeNet 4.0) |
Partner | Gene | Disease ID | Disease name | # pubmeds | Source |
Hgene | CADM1 | C0004352 | Autistic Disorder | 1 | CTD_human |
Hgene | CADM1 | C0011581 | Depressive disorder | 1 | CTD_human |
Hgene | CADM1 | C1458155 | Mammary Neoplasms | 1 | CTD_human |
Tgene | SORL1 | C0008370 | Cholestasis | 1 | CTD_human |
Tgene | SORL1 | C0027626 | Neoplasm Invasiveness | 1 | CTD_human |
Tgene | SORL1 | C4277682 | Chemical and Drug Induced Liver Injury | 1 | CTD_human |