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![]() | Fusion Gene Summary |
![]() | Fusion Gene ORF analysis |
![]() | Fusion Genomic Features |
![]() | Fusion Protein Features |
![]() | Fusion Gene Sequence |
![]() | Fusion Gene PPI analysis |
![]() | Related Drugs |
![]() | Related Diseases |
Fusion gene:EMC3-CDH1 (FusionGDB2 ID:HG55831TG999) |
Fusion Gene Summary for EMC3-CDH1 |
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Fusion gene information | Fusion gene name: EMC3-CDH1 | Fusion gene ID: hg55831tg999 | Hgene | Tgene | Gene symbol | EMC3 | CDH1 | Gene ID | 55831 | 999 |
Gene name | ER membrane protein complex subunit 3 | cadherin 1 | |
Synonyms | POB|TMEM111 | Arc-1|BCDS1|CD324|CDHE|ECAD|LCAM|UVO | |
Cytomap | ('EMC3')('CDH1') 3p25.3 | 16q22.1 | |
Type of gene | protein-coding | protein-coding | |
Description | ER membrane protein complex subunit 330 kDa proteinpartial optokinetic response btransmembrane protein 111 | cadherin-1CAM 120/80E-cadherin 1cadherin 1, E-cadherin (epithelial)cadherin 1, type 1, E-cadherin (epithelial)calcium-dependent adhesion protein, epithelialcell-CAM 120/80epididymis secretory sperm binding proteinepithelial cadherinuvomorulin | |
Modification date | 20200313 | 20200329 | |
UniProtAcc | . | . | |
Ensembl transtripts involved in fusion gene | ENST00000245046, ENST00000429759, ENST00000497557, | ||
Fusion gene scores | * DoF score | 7 X 7 X 4=196 | 19 X 20 X 5=1900 |
# samples | 7 | 23 | |
** MAII score | log2(7/196*10)=-1.48542682717024 possibly effective Gene in Pan-Cancer Fusion Genes (peGinPCFGs). DoF>8 and MAII<0 | log2(23/1900*10)=-3.04629365227394 possibly effective Gene in Pan-Cancer Fusion Genes (peGinPCFGs). DoF>8 and MAII<0 | |
Context | PubMed: EMC3 [Title/Abstract] AND CDH1 [Title/Abstract] AND fusion [Title/Abstract] | ||
Most frequent breakpoint | EMC3(10018641)-CDH1(68867193), # samples:1 | ||
Anticipated loss of major functional domain due to fusion event. | EMC3-CDH1 seems lost the major protein functional domain in Hgene partner, which is a essential gene due to the frame-shifted ORF. EMC3-CDH1 seems lost the major protein functional domain in Tgene partner, which is a CGC due to the frame-shifted ORF. EMC3-CDH1 seems lost the major protein functional domain in Tgene 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) |
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Partner | Gene | GO ID | GO term | PubMed ID |
Tgene | CDH1 | GO:0042307 | positive regulation of protein import into nucleus | 16338932 |
Tgene | CDH1 | GO:0045893 | positive regulation of transcription, DNA-templated | 16338932 |
Tgene | CDH1 | GO:0071285 | cellular response to lithium ion | 12937339 |
Tgene | CDH1 | GO:0071681 | cellular response to indole-3-methanol | 10868478 |
Tgene | CDH1 | GO:0072659 | protein localization to plasma membrane | 17620337 |
Tgene | CDH1 | GO:0098609 | cell-cell adhesion | 16338932|18593713 |
![]() * 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. |
Source | Disease | Sample | Hgene | Hchr | Hbp | Hstrand | Tgene | Tchr | Tbp | Tstrand |
ChimerDB4 | STAD | TCGA-BR-A4PD-01A | EMC3 | chr3 | 10018641 | - | CDH1 | chr16 | 68867193 | + |
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Fusion Gene ORF analysis for EMC3-CDH1 |
![]() * 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 |
5CDS-3UTR | ENST00000245046 | ENST00000562836 | EMC3 | chr3 | 10018641 | - | CDH1 | chr16 | 68867193 | + |
5CDS-3UTR | ENST00000429759 | ENST00000562836 | EMC3 | chr3 | 10018641 | - | CDH1 | chr16 | 68867193 | + |
5UTR-3CDS | ENST00000497557 | ENST00000261769 | EMC3 | chr3 | 10018641 | - | CDH1 | chr16 | 68867193 | + |
5UTR-3CDS | ENST00000497557 | ENST00000422392 | EMC3 | chr3 | 10018641 | - | CDH1 | chr16 | 68867193 | + |
5UTR-3UTR | ENST00000497557 | ENST00000562836 | EMC3 | chr3 | 10018641 | - | CDH1 | chr16 | 68867193 | + |
Frame-shift | ENST00000245046 | ENST00000261769 | EMC3 | chr3 | 10018641 | - | CDH1 | chr16 | 68867193 | + |
Frame-shift | ENST00000245046 | ENST00000422392 | EMC3 | chr3 | 10018641 | - | CDH1 | chr16 | 68867193 | + |
Frame-shift | ENST00000429759 | ENST00000261769 | EMC3 | chr3 | 10018641 | - | CDH1 | chr16 | 68867193 | + |
Frame-shift | ENST00000429759 | ENST00000422392 | EMC3 | chr3 | 10018641 | - | CDH1 | chr16 | 68867193 | + |
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Henst | Tenst | Hgene | Hchr | Hbp | Hstrand | Tgene | Tchr | Tbp | Tstrand | Seq length (transcript) | BP loci (transcript) | Predicted start (transcript) | Predicted stop (transcript) | Seq length (amino acids) |
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Henst | Tenst | Hgene | Hchr | Hbp | Hstrand | Tgene | Tchr | Tbp | Tstrand | No-coding score | Coding score |
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Fusion Genomic Features for EMC3-CDH1 |
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Hgene | Hchr | Hbp | Hstrand | Tgene | Tchr | Tbp | Tstrand | 1-p | p (fusion gene breakpoint) |
EMC3 | chr3 | 10018640 | - | CDH1 | chr16 | 68867192 | + | 3.29E-09 | 1 |
EMC3 | chr3 | 10018640 | - | CDH1 | chr16 | 68867192 | + | 3.29E-09 | 1 |
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Fusion Protein Features for EMC3-CDH1 |
![]() Go to FGviewer search page for the most frequent breakpoint (https://ccsmweb.uth.edu/FGviewer/:10018641/:68867193) - 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. |
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Hgene | Tgene |
. | . |
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}. | 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}. |
![]() * 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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Fusion Gene Sequence for EMC3-CDH1 |
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Fusion Gene PPI Analysis for EMC3-CDH1 |
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Hgene | Hgene's interactors | Tgene | Tgene's interactors |
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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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Related Drugs for EMC3-CDH1 |
![]() (DrugBank Version 5.1.8 2021-05-08) |
Partner | Gene | UniProtAcc | DrugBank ID | Drug name | Drug activity | Drug type | Drug status |
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Related Diseases for EMC3-CDH1 |
![]() (DisGeNet 4.0) |
Partner | Gene | Disease ID | Disease name | # pubmeds | Source |
Tgene | C1708349 | Hereditary Diffuse Gastric Cancer | 15 | CLINGEN;CTD_human;GENOMICS_ENGLAND;ORPHANET;UNIPROT | |
Tgene | C0346153 | Breast Cancer, Familial | 12 | CLINGEN | |
Tgene | C0009405 | Hereditary Nonpolyposis Colorectal Neoplasms | 6 | CLINGEN | |
Tgene | C0024623 | Malignant neoplasm of stomach | 6 | CGI;CTD_human;UNIPROT | |
Tgene | C0038356 | Stomach Neoplasms | 6 | CGI;CTD_human | |
Tgene | C1112155 | Hereditary non-polyposis colorectal cancer syndrome | 6 | CLINGEN | |
Tgene | C1333990 | Hereditary Nonpolyposis Colorectal Cancer | 6 | CLINGEN | |
Tgene | C1333991 | Hereditary Non-Polyposis Colon Cancer Type 2 | 6 | CLINGEN | |
Tgene | C2936783 | Colorectal cancer, hereditary nonpolyposis, type 1 | 6 | CLINGEN | |
Tgene | C0006142 | Malignant neoplasm of breast | 4 | CTD_human;GENOMICS_ENGLAND;UNIPROT | |
Tgene | C0033578 | Prostatic Neoplasms | 4 | CTD_human | |
Tgene | C0376358 | Malignant neoplasm of prostate | 4 | CTD_human;GENOMICS_ENGLAND | |
Tgene | C0678222 | Breast Carcinoma | 4 | CTD_human | |
Tgene | C1257931 | Mammary Neoplasms, Human | 4 | CTD_human | |
Tgene | C1458155 | Mammary Neoplasms | 4 | CTD_human | |
Tgene | C4704874 | Mammary Carcinoma, Human | 4 | CTD_human | |
Tgene | C0007097 | Carcinoma | 3 | CTD_human | |
Tgene | C0205696 | Anaplastic carcinoma | 3 | CTD_human | |
Tgene | C0205697 | Carcinoma, Spindle-Cell | 3 | CTD_human | |
Tgene | C0205698 | Undifferentiated carcinoma | 3 | CTD_human | |
Tgene | C0205699 | Carcinomatosis | 3 | CTD_human | |
Tgene | C0005684 | Malignant neoplasm of urinary bladder | 2 | CTD_human | |
Tgene | C0005695 | Bladder Neoplasm | 2 | CTD_human | |
Tgene | C0009402 | Colorectal Carcinoma | 2 | CTD_human | |
Tgene | C0009404 | Colorectal Neoplasms | 2 | CTD_human | |
Tgene | C0019207 | Hepatoma, Morris | 2 | CTD_human | |
Tgene | C0019208 | Hepatoma, Novikoff | 2 | CTD_human | |
Tgene | C0021367 | Mammary Ductal Carcinoma | 2 | CTD_human | |
Tgene | C0023904 | Liver Neoplasms, Experimental | 2 | CTD_human | |
Tgene | C0027626 | Neoplasm Invasiveness | 2 | CTD_human | |
Tgene | C0027627 | Neoplasm Metastasis | 2 | CTD_human | |
Tgene | C0086404 | Experimental Hepatoma | 2 | CTD_human | |
Tgene | C0206692 | Carcinoma, Lobular | 2 | CGI;CTD_human;UNIPROT | |
Tgene | C1134719 | Invasive Ductal Breast Carcinoma | 2 | CTD_human | |
Tgene | C2931456 | Prostate cancer, familial | 2 | CTD_human | |
Tgene | C4551988 | BLEPHAROCHEILODONTIC SYNDROME 1 | 2 | GENOMICS_ENGLAND;UNIPROT | |
Tgene | C4722327 | PROSTATE CANCER, HEREDITARY, 1 | 2 | CTD_human | |
Tgene | C0007137 | Squamous cell carcinoma | 1 | CTD_human | |
Tgene | C0007621 | Neoplastic Cell Transformation | 1 | CTD_human | |
Tgene | C0009324 | Ulcerative Colitis | 1 | CTD_human | |
Tgene | C0010606 | Adenoid Cystic Carcinoma | 1 | CTD_human | |
Tgene | C0014170 | Endometrial Neoplasms | 1 | CTD_human | |
Tgene | C0014476 | Eperythrozoonosis | 1 | CTD_human | |
Tgene | C0024667 | Animal Mammary Neoplasms | 1 | CTD_human | |
Tgene | C0024668 | Mammary Neoplasms, Experimental | 1 | CTD_human | |
Tgene | C0025500 | Mesothelioma | 1 | CTD_human | |
Tgene | C0026936 | Mycoplasma Infections | 1 | CTD_human | |
Tgene | C0027645 | Neoplasm Seeding | 1 | CTD_human | |
Tgene | C0027659 | Neoplasms, Experimental | 1 | CTD_human | |
Tgene | C0027746 | Nerve Degeneration | 1 | CTD_human | |
Tgene | C0030297 | Pancreatic Neoplasm | 1 | CTD_human | |
Tgene | C0032927 | Precancerous Conditions | 1 | CTD_human | |
Tgene | C0036095 | Salivary Gland Neoplasms | 1 | CTD_human | |
Tgene | C0079487 | Helicobacter Infections | 1 | CTD_human | |
Tgene | C0158646 | Cleft palate with cleft lip | 1 | ORPHANET | |
Tgene | C0220636 | Malignant neoplasm of salivary gland | 1 | CTD_human | |
Tgene | C0235874 | Disease Exacerbation | 1 | CTD_human | |
Tgene | C0282313 | Condition, Preneoplastic | 1 | CTD_human | |
Tgene | C0282612 | Prostatic Intraepithelial Neoplasias | 1 | CTD_human | |
Tgene | C0346647 | Malignant neoplasm of pancreas | 1 | CTD_human | |
Tgene | C0476089 | Endometrial Carcinoma | 1 | CTD_human;GENOMICS_ENGLAND | |
Tgene | C0919267 | ovarian neoplasm | 1 | CTD_human | |
Tgene | C1140680 | Malignant neoplasm of ovary | 1 | CTD_human;GENOMICS_ENGLAND;UNIPROT | |
Tgene | C1176475 | Ductal Carcinoma | 1 | CTD_human | |
Tgene | C1257925 | Mammary Carcinoma, Animal | 1 | CTD_human | |
Tgene | C1861536 | Blepharo-cheilo-dontic syndrome | 1 | ORPHANET |