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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:CD81-NOTCH1 (FusionGDB2 ID:14720)

Fusion Gene Summary for CD81-NOTCH1

check button Fusion gene summary
Fusion gene informationFusion gene name: CD81-NOTCH1
Fusion gene ID: 14720
HgeneTgene
Gene symbol

CD81

NOTCH1

Gene ID

975

4851

Gene nameCD81 moleculenotch receptor 1
SynonymsCVID6|S5.7|TAPA1|TSPAN28AOS5|AOVD1|TAN1|hN1
Cytomap

11p15.5

9q34.3

Type of geneprotein-codingprotein-coding
DescriptionCD81 antigen26 kDa cell surface protein TAPA-1CD81 antigen (target of antiproliferative antibody 1)tetraspanin-28tspan-28neurogenic locus notch homolog protein 1Notch homolog 1, translocation-associatednotch 1translocation-associated notch protein TAN-1
Modification date2020032720200329
UniProtAcc

P60033

P46531

Ensembl transtripts involved in fusion geneENST00000263645, ENST00000492627, 
ENST00000381036, ENST00000526072, 
ENST00000524805, ENST00000481687, 
ENST00000277541, ENST00000491649, 
Fusion gene scores* DoF score18 X 10 X 10=18009 X 11 X 9=891
# samples 2011
** MAII scorelog2(20/1800*10)=-3.16992500144231
possibly effective Gene in Pan-Cancer Fusion Genes (peGinPCFGs).
DoF>8 and MAII<0		log2(11/891*10)=-3.01792190799726
possibly effective Gene in Pan-Cancer Fusion Genes (peGinPCFGs).
DoF>8 and MAII<0
Context

PubMed: CD81 [Title/Abstract] AND NOTCH1 [Title/Abstract] AND fusion [Title/Abstract]

Most frequent breakpointCD81(2398845)-NOTCH1(139414017), # samples:2
Anticipated loss of major functional domain due to fusion event.CD81-NOTCH1 seems lost the major protein functional domain in Hgene partner, which is a essential gene due to the frame-shifted ORF.
CD81-NOTCH1 seems lost the major protein functional domain in Tgene partner, which is a CGC due to the frame-shifted ORF.
CD81-NOTCH1 seems lost the major protein functional domain in Tgene partner, which is a tumor suppressor due to the frame-shifted ORF.
CD81-NOTCH1 seems lost the major protein functional domain in Tgene partner, which is a IUPHAR drug target 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
HgeneCD81

GO:0000187

activation of MAPK activity

14676841

HgeneCD81

GO:0008104

protein localization

14676841

HgeneCD81

GO:0008284

positive regulation of cell proliferation

14676841

HgeneCD81

GO:0030890

positive regulation of B cell proliferation

10400713

HgeneCD81

GO:0034238

macrophage fusion

12796480

HgeneCD81

GO:0035783

CD4-positive, alpha-beta T cell costimulation

22307619

HgeneCD81

GO:0043128

positive regulation of 1-phosphatidylinositol 4-kinase activity

14676841

HgeneCD81

GO:0050731

positive regulation of peptidyl-tyrosine phosphorylation

14676841

HgeneCD81

GO:0072659

protein localization to plasma membrane

27881302

HgeneCD81

GO:1903911

positive regulation of receptor clustering

23858057

HgeneCD81

GO:2000553

positive regulation of T-helper 2 cell cytokine production

8766544

HgeneCD81

GO:2000563

positive regulation of CD4-positive, alpha-beta T cell proliferation

22307619

HgeneCD81

GO:2001190

positive regulation of T cell activation via T cell receptor contact with antigen bound to MHC molecule on antigen presenting cell

8766544

TgeneNOTCH1

GO:0007050

cell cycle arrest

11306509

TgeneNOTCH1

GO:0007219

Notch signaling pathway

11306509

TgeneNOTCH1

GO:0008284

positive regulation of cell proliferation

17849174

TgeneNOTCH1

GO:0008285

negative regulation of cell proliferation

11306509|20616313

TgeneNOTCH1

GO:0010629

negative regulation of gene expression

11306509

TgeneNOTCH1

GO:0010812

negative regulation of cell-substrate adhesion

16501043

TgeneNOTCH1

GO:0035924

cellular response to vascular endothelial growth factor stimulus

20616313

TgeneNOTCH1

GO:0045944

positive regulation of transcription by RNA polymerase II

20616313

TgeneNOTCH1

GO:0045967

negative regulation of growth rate

11306509

TgeneNOTCH1

GO:0046579

positive regulation of Ras protein signal transduction

11306509

TgeneNOTCH1

GO:0070374

positive regulation of ERK1 and ERK2 cascade

11306509

TgeneNOTCH1

GO:0071372

cellular response to follicle-stimulating hormone stimulus

20613903

TgeneNOTCH1

GO:0090051

negative regulation of cell migration involved in sprouting angiogenesis

20616313

TgeneNOTCH1

GO:2001027

negative regulation of endothelial cell chemotaxis

20616313


check buttonFusion gene breakpoints across CD81 (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 NOTCH1 (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
ChimerDB4ESCATCGA-VR-A8EUCD81chr11

2398845

+NOTCH1chr9

139414017

-
ChimerDB4ESCATCGA-VR-A8EUCD81chr11

2398845

+NOTCH1chr9

139414017

-


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Fusion Gene ORF analysis for CD81-NOTCH1

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-shiftENST00000263645ENST00000277541CD81chr11

2398845

+NOTCH1chr9

139414017

-
5CDS-intronENST00000263645ENST00000491649CD81chr11

2398845

+NOTCH1chr9

139414017

-
intron-3CDSENST00000492627ENST00000277541CD81chr11

2398845

+NOTCH1chr9

139414017

-
intron-intronENST00000492627ENST00000491649CD81chr11

2398845

+NOTCH1chr9

139414017

-
intron-3CDSENST00000381036ENST00000277541CD81chr11

2398845

+NOTCH1chr9

139414017

-
intron-intronENST00000381036ENST00000491649CD81chr11

2398845

+NOTCH1chr9

139414017

-
intron-3CDSENST00000526072ENST00000277541CD81chr11

2398845

+NOTCH1chr9

139414017

-
intron-intronENST00000526072ENST00000491649CD81chr11

2398845

+NOTCH1chr9

139414017

-
intron-3CDSENST00000524805ENST00000277541CD81chr11

2398845

+NOTCH1chr9

139414017

-
intron-intronENST00000524805ENST00000491649CD81chr11

2398845

+NOTCH1chr9

139414017

-
intron-3CDSENST00000481687ENST00000277541CD81chr11

2398845

+NOTCH1chr9

139414017

-
intron-intronENST00000481687ENST00000491649CD81chr11

2398845

+NOTCH1chr9

139414017

-

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 CD81-NOTCH1


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)

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.

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Fusion Protein Features for CD81-NOTCH1


check button Go to

FGviewer for the breakpoints of :-:

.
- FGviewer provides the online visualization of the retention search of the protein functional features across DNA, RNA, protein, and pathological levels.
FGviewer

check buttonMain function of each fusion partner protein. (from UniProt)
HgeneTgene
CD81

P60033

NOTCH1

P46531

FUNCTION: Structural component of specialized membrane microdomains known as tetraspanin-enriched microdomains (TERMs), which act as platforms for receptor clustering and signaling. Essential for trafficking and compartmentalization of CD19 receptor on the surface of activated B cells (PubMed:20237408, PubMed:27881302, PubMed:16449649). Upon initial encounter with microbial pathogens, enables the assembly of CD19-CR2/CD21 and B cell receptor (BCR) complexes at signaling TERMs, lowering the threshold dose of antigen required to trigger B cell clonal expansion and antibody production (PubMed:15161911, PubMed:20237408). In T cells, facilitates the localization of CD247/CD3 zeta at antigen-induced synapses with B cells, providing for costimulation and polarization toward T helper type 2 phenotype (PubMed:22307619, PubMed:23858057, PubMed:8766544). Present in MHC class II compartments, may also play a role in antigen presentation (PubMed:8409388, PubMed:8766544). Can act both as positive and negative regulator of homotypic or heterotypic cell-cell fusion processes. Positively regulates sperm-egg fusion and may be involved in acrosome reaction (By similarity). In myoblasts, associates with CD9 and PTGFRN and inhibits myotube fusion during muscle regeneration (By similarity). In macrophages, associates with CD9 and beta-1 and beta-2 integrins, and prevents macrophage fusion into multinucleated giant cells specialized in ingesting complement-opsonized large particles (PubMed:12796480). Also prevents the fusion of mononuclear cell progenitors into osteoclasts in charge of bone resorption (By similarity). May regulate the compartmentalization of enzymatic activities. In T cells, defines the subcellular localization of dNTPase SAMHD1 and permits its degradation by the proteasome, thereby controlling intracellular dNTP levels (PubMed:28871089). Also involved in cell adhesion and motility. Positively regulates integrin-mediated adhesion of macrophages, particularly relevant for the inflammatory response in the lung (By similarity). {ECO:0000250|UniProtKB:P35762, ECO:0000269|PubMed:12796480, ECO:0000269|PubMed:15161911, ECO:0000269|PubMed:16449649, ECO:0000269|PubMed:20237408, ECO:0000269|PubMed:22307619, ECO:0000269|PubMed:23858057, ECO:0000269|PubMed:27881302, ECO:0000269|PubMed:28871089, ECO:0000269|PubMed:8409388, ECO:0000269|PubMed:8766544}.; FUNCTION: (Microbial infection) Acts as a receptor for hepatitis C virus (HCV) in hepatocytes. Association with CLDN1 and the CLDN1-CD81 receptor complex is essential for HCV entry into host cell. {ECO:0000269|PubMed:20375010, ECO:0000269|PubMed:21516087, ECO:0000269|PubMed:26116703}.; FUNCTION: (Microbial infection) Involved in SAMHD1-dependent restriction of HIV-1 replication. May support early replication of both R5- and X4-tropic HIV-1 viruses in T cells, likely via proteasome-dependent degradation of SAMHD1. {ECO:0000269|PubMed:28871089}.; FUNCTION: (Microbial infection) Specifically required for Plasmodium falciparum infectivity of hepatocytes, controlling sporozoite entry into hepatocytes via the parasitophorous vacuole and subsequent parasite differentiation to exoerythrocytic forms. {ECO:0000269|PubMed:12483205}.FUNCTION: Functions as a receptor for membrane-bound ligands Jagged-1 (JAG1), Jagged-2 (JAG2) and Delta-1 (DLL1) to regulate cell-fate determination. Upon ligand activation through the released notch intracellular domain (NICD) it forms a transcriptional activator complex with RBPJ/RBPSUH and activates genes of the enhancer of split locus. Affects the implementation of differentiation, proliferation and apoptotic programs. Involved in angiogenesis; negatively regulates endothelial cell proliferation and migration and angiogenic sprouting. Involved in the maturation of both CD4(+) and CD8(+) cells in the thymus. Important for follicular differentiation and possibly cell fate selection within the follicle. During cerebellar development, functions as a receptor for neuronal DNER and is involved in the differentiation of Bergmann glia. Represses neuronal and myogenic differentiation. May play an essential role in postimplantation development, probably in some aspect of cell specification and/or differentiation. May be involved in mesoderm development, somite formation and neurogenesis. May enhance HIF1A function by sequestering HIF1AN away from HIF1A. Required for the THBS4 function in regulating protective astrogenesis from the subventricular zone (SVZ) niche after injury. Involved in determination of left/right symmetry by modulating the balance between motile and immotile (sensory) cilia at the left-right organiser (LRO). {ECO:0000269|PubMed:20616313}.

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 CD81-NOTCH1


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 CD81-NOTCH1


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 CD81-NOTCH1


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 CD81-NOTCH1


check button Diseases associated with fusion partners.
(DisGeNet 4.0)
PartnerGeneDisease IDDisease name# pubmedsSource
HgeneCD81C0009447Common Variable Immunodeficiency1CTD_human;ORPHANET
HgeneCD81C0019196Hepatitis C1CTD_human
HgeneCD81C0086438Hypogammaglobulinemia1GENOMICS_ENGLAND
HgeneCD81C3150741IMMUNODEFICIENCY, COMMON VARIABLE, 61GENOMICS_ENGLAND
TgeneNOTCH1C1961099Precursor T-Cell Lymphoblastic Leukemia-Lymphoma5CGI;CTD_human
TgeneNOTCH1C3887892Aortic Valve Disease 14CTD_human;GENOMICS_ENGLAND;ORPHANET
TgeneNOTCH1C4707243Familial thoracic aortic aneurysm and aortic dissection4CLINGEN;GENOMICS_ENGLAND
TgeneNOTCH1C0006142Malignant neoplasm of breast2CGI;CTD_human
TgeneNOTCH1C0149630Bicuspid aortic valve2CTD_human;ORPHANET
TgeneNOTCH1C0678222Breast Carcinoma2CGI;CTD_human
TgeneNOTCH1C1257931Mammary Neoplasms, Human2CTD_human
TgeneNOTCH1C1458155Mammary Neoplasms2CTD_human
TgeneNOTCH1C4704874Mammary Carcinoma, Human2CTD_human
TgeneNOTCH1C0000768Congenital Abnormality1CTD_human
TgeneNOTCH1C0004114Astrocytoma1CTD_human
TgeneNOTCH1C0006663Calcinosis1CTD_human
TgeneNOTCH1C0007102Malignant tumor of colon1CTD_human
TgeneNOTCH1C0007114Malignant neoplasm of skin1CTD_human
TgeneNOTCH1C0007137Squamous cell carcinoma1CGI;CTD_human
TgeneNOTCH1C0007621Neoplastic Cell Transformation1CTD_human
TgeneNOTCH1C0007873Uterine Cervical Neoplasm1CTD_human
TgeneNOTCH1C0009375Colonic Neoplasms1CTD_human
TgeneNOTCH1C0009782Connective Tissue Diseases1GENOMICS_ENGLAND
TgeneNOTCH1C0010606Adenoid Cystic Carcinoma1CTD_human
TgeneNOTCH1C0017636Glioblastoma1CTD_human
TgeneNOTCH1C0018824Heart valve disease1CTD_human
TgeneNOTCH1C0019193Hepatitis, Toxic1CTD_human
TgeneNOTCH1C0023449Acute lymphocytic leukemia1GENOMICS_ENGLAND
TgeneNOTCH1C0023452Childhood Acute Lymphoblastic Leukemia1GENOMICS_ENGLAND
TgeneNOTCH1C0023492Leukemia, T-Cell1CTD_human
TgeneNOTCH1C0024299Lymphoma1CTD_human
TgeneNOTCH1C0027765nervous system disorder1CTD_human
TgeneNOTCH1C0036439Scoliosis, unspecified1CTD_human
TgeneNOTCH1C0037286Skin Neoplasms1CTD_human
TgeneNOTCH1C0038002Splenomegaly1CTD_human
TgeneNOTCH1C0205768Subependymal Giant Cell Astrocytoma1CTD_human
TgeneNOTCH1C0263628Tumoral calcinosis1CTD_human
TgeneNOTCH1C0265268Adams Oliver syndrome1ORPHANET
TgeneNOTCH1C0279626Squamous cell carcinoma of esophagus1CTD_human
TgeneNOTCH1C0280783Juvenile Pilocytic Astrocytoma1CTD_human
TgeneNOTCH1C0280785Diffuse Astrocytoma1CTD_human
TgeneNOTCH1C0334579Anaplastic astrocytoma1CTD_human
TgeneNOTCH1C0334580Protoplasmic astrocytoma1CTD_human
TgeneNOTCH1C0334581Gemistocytic astrocytoma1CTD_human
TgeneNOTCH1C0334582Fibrillary Astrocytoma1CTD_human
TgeneNOTCH1C0334583Pilocytic Astrocytoma1CTD_human
TgeneNOTCH1C0334588Giant Cell Glioblastoma1CTD_human
TgeneNOTCH1C0338070Childhood Cerebral Astrocytoma1CTD_human
TgeneNOTCH1C0345050Congenital aneurysm of ascending aorta1GENOMICS_ENGLAND
TgeneNOTCH1C0376634Craniofacial Abnormalities1CTD_human
TgeneNOTCH1C0428791Aortic valve calcification1CTD_human;ORPHANET
TgeneNOTCH1C0521174Microcalcification1CTD_human
TgeneNOTCH1C0547065Mixed oligoastrocytoma1CTD_human
TgeneNOTCH1C0750935Cerebral Astrocytoma1CTD_human
TgeneNOTCH1C0750936Intracranial Astrocytoma1CTD_human
TgeneNOTCH1C0751606Adult Acute Lymphocytic Leukemia1GENOMICS_ENGLAND
TgeneNOTCH1C0860207Drug-Induced Liver Disease1CTD_human
TgeneNOTCH1C0887833Carcinoma, Pancreatic Ductal1CTD_human
TgeneNOTCH1C1260873Aortic valve disorder1ORPHANET
TgeneNOTCH1C1262760Hepatitis, Drug-Induced1CTD_human
TgeneNOTCH1C1621958Glioblastoma Multiforme1CTD_human
TgeneNOTCH1C1704230Grade I Astrocytoma1CTD_human
TgeneNOTCH1C3658290Drug-Induced Acute Liver Injury1CTD_human
TgeneNOTCH1C4014970ADAMS-OLIVER SYNDROME 51GENOMICS_ENGLAND;UNIPROT
TgeneNOTCH1C4048328cervical cancer1CTD_human
TgeneNOTCH1C4277682Chemical and Drug Induced Liver Injury1CTD_human
TgeneNOTCH1C4279912Chemically-Induced Liver Toxicity1CTD_human
TgeneNOTCH1C4551482Adams-Oliver syndrome 11CTD_human;GENOMICS_ENGLAND