|
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:CD3D-KIAA0100 (FusionGDB2 ID:14530) |
Fusion Gene Summary for CD3D-KIAA0100 |
Fusion gene summary |
Fusion gene information | Fusion gene name: CD3D-KIAA0100 | Fusion gene ID: 14530 | Hgene | Tgene | Gene symbol | CD3D | KIAA0100 | Gene ID | 915 | 9703 |
Gene name | CD3d molecule | KIAA0100 | |
Synonyms | CD3-DELTA|IMD19|T3D | BCOX|BCOX1|CT101|FMP27 | |
Cytomap | 11q23.3 | 17q11.2 | |
Type of gene | protein-coding | protein-coding | |
Description | T-cell surface glycoprotein CD3 delta chainCD3 antigen, delta subunitCD3 deltaCD3d antigen, delta polypeptide (TiT3 complex)CD3d molecule, delta (CD3-TCR complex)OKT3, delta chainT-cell receptor T3 delta chain | protein KIAA0100U937-associated antigenantigen MLAA-22breast cancer overexpressed gene 1breast cancer-overexpressed gene 1 proteincancer/testis antigen 101 | |
Modification date | 20200313 | 20200320 | |
UniProtAcc | P04234 | Q14667 | |
Ensembl transtripts involved in fusion gene | ENST00000300692, ENST00000529594, ENST00000392884, | ENST00000528896, ENST00000544884, ENST00000389003, ENST00000579924, | |
Fusion gene scores | * DoF score | 2 X 2 X 1=4 | 5 X 5 X 3=75 |
# samples | 2 | 5 | |
** MAII score | log2(2/4*10)=2.32192809488736 | log2(5/75*10)=-0.584962500721156 possibly effective Gene in Pan-Cancer Fusion Genes (peGinPCFGs). DoF>8 and MAII<0 | |
Context | PubMed: CD3D [Title/Abstract] AND KIAA0100 [Title/Abstract] AND fusion [Title/Abstract] | ||
Most frequent breakpoint | CD3D(118212582)-KIAA0100(26962070), # samples:1 | ||
Anticipated loss of major functional domain due to fusion event. |
* DoF score (Degree of Frequency) = # partners X # break points X # cancer types ** MAII score (Major Active Isofusion Index) = log2(# samples/DoF score*10) |
Gene ontology of each fusion partner gene with evidence of Inferred from Direct Assay (IDA) from Entrez |
Partner | Gene | GO ID | GO term | PubMed ID |
Hgene | CD3D | GO:0030217 | T cell differentiation | 2017177 |
Hgene | CD3D | GO:0045944 | positive regulation of transcription by RNA polymerase II | 2017177 |
Fusion gene breakpoints across CD3D (5'-gene) * Click on the image to open the UCSC genome browser with custom track showing this image in a new window. |
Fusion gene breakpoints across KIAA0100 (3'-gene) * Click on the image to open the UCSC genome browser with custom track showing this image in a new window. |
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. |
Source | Disease | Sample | Hgene | Hchr | Hbp | Hstrand | Tgene | Tchr | Tbp | Tstrand |
ChiTaRS5.0 | N/A | BF802522 | CD3D | chr11 | 118212582 | + | KIAA0100 | chr17 | 26962070 | + |
Top |
Fusion Gene ORF analysis for CD3D-KIAA0100 |
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. |
ORF | Henst | Tenst | Hgene | Hchr | Hbp | Hstrand | Tgene | Tchr | Tbp | Tstrand |
intron-3CDS | ENST00000300692 | ENST00000528896 | CD3D | chr11 | 118212582 | + | KIAA0100 | chr17 | 26962070 | + |
intron-3CDS | ENST00000300692 | ENST00000544884 | CD3D | chr11 | 118212582 | + | KIAA0100 | chr17 | 26962070 | + |
intron-3CDS | ENST00000300692 | ENST00000389003 | CD3D | chr11 | 118212582 | + | KIAA0100 | chr17 | 26962070 | + |
intron-intron | ENST00000300692 | ENST00000579924 | CD3D | chr11 | 118212582 | + | KIAA0100 | chr17 | 26962070 | + |
intron-3CDS | ENST00000529594 | ENST00000528896 | CD3D | chr11 | 118212582 | + | KIAA0100 | chr17 | 26962070 | + |
intron-3CDS | ENST00000529594 | ENST00000544884 | CD3D | chr11 | 118212582 | + | KIAA0100 | chr17 | 26962070 | + |
intron-3CDS | ENST00000529594 | ENST00000389003 | CD3D | chr11 | 118212582 | + | KIAA0100 | chr17 | 26962070 | + |
intron-intron | ENST00000529594 | ENST00000579924 | CD3D | chr11 | 118212582 | + | KIAA0100 | chr17 | 26962070 | + |
intron-3CDS | ENST00000392884 | ENST00000528896 | CD3D | chr11 | 118212582 | + | KIAA0100 | chr17 | 26962070 | + |
intron-3CDS | ENST00000392884 | ENST00000544884 | CD3D | chr11 | 118212582 | + | KIAA0100 | chr17 | 26962070 | + |
intron-3CDS | ENST00000392884 | ENST00000389003 | CD3D | chr11 | 118212582 | + | KIAA0100 | chr17 | 26962070 | + |
intron-intron | ENST00000392884 | ENST00000579924 | CD3D | chr11 | 118212582 | + | KIAA0100 | chr17 | 26962070 | + |
ORFfinder result based on the fusion transcript sequence of in-frame fusion genes. |
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) |
DeepORF 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. |
Henst | Tenst | Hgene | Hchr | Hbp | Hstrand | Tgene | Tchr | Tbp | Tstrand | No-coding score | Coding score |
Top |
Fusion Genomic Features for CD3D-KIAA0100 |
FusionAI 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. |
Hgene | Hchr | Hbp | Hstrand | Tgene | Tchr | Tbp | Tstrand | 1-p | p (fusion gene breakpoint) |
Distribution 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. |
Distribution 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. |
Top |
Fusion Protein Features for CD3D-KIAA0100 |
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. |
Main function of each fusion partner protein. (from UniProt) |
Hgene | Tgene |
CD3D | KIAA0100 |
FUNCTION: Part of the TCR-CD3 complex present on T-lymphocyte cell surface that plays an essential role in adaptive immune response. When antigen presenting cells (APCs) activate T-cell receptor (TCR), TCR-mediated signals are transmitted across the cell membrane by the CD3 chains CD3D, CD3E, CD3G and CD3Z. All CD3 chains contain immunoreceptor tyrosine-based activation motifs (ITAMs) in their cytoplasmic domain. Upon TCR engagement, these motifs become phosphorylated by Src family protein tyrosine kinases LCK and FYN, resulting in the activation of downstream signaling pathways (PubMed:2470098). In addition of this role of signal transduction in T-cell activation, CD3D plays an essential role in thymocyte differentiation. Indeed, participates in correct intracellular TCR-CD3 complex assembly and surface expression. In absence of a functional TCR-CD3 complex, thymocytes are unable to differentiate properly. Interacts with CD4 and CD8 and thus serves to establish a functional link between the TCR and coreceptors CD4 and CD8, which is needed for activation and positive selection of CD4 or CD8 T-cells(PubMed:12215456). {ECO:0000269|PubMed:12215456, ECO:0000269|PubMed:12507424, ECO:0000269|PubMed:2470098}. | FUNCTION: May be involved in membrane trafficking. {ECO:0000250|UniProtKB:K7VLR4}. |
Retention 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 * 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 |
Top |
Fusion Gene Sequence for CD3D-KIAA0100 |
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. |
Top |
Fusion Gene PPI Analysis for CD3D-KIAA0100 |
Go to ChiPPI (Chimeric Protein-Protein interactions) to see the chimeric PPI interaction in |
Protein-protein interactors with each fusion partner protein in wild-type (BIOGRID-3.4.160) |
Hgene | Hgene's interactors | Tgene | Tgene's interactors |
- Retained PPIs in in-frame fusion. |
Partner | Gene | Hbp | Tbp | ENST | Strand | BPexon | TotalExon | Protein feature loci | *BPloci | TotalLen | Still interaction with |
- Lost PPIs in in-frame fusion. |
Partner | Gene | Hbp | Tbp | ENST | Strand | BPexon | TotalExon | Protein feature loci | *BPloci | TotalLen | Interaction lost with |
- Retained PPIs, but lost function due to frame-shift fusion. |
Partner | Gene | Hbp | Tbp | ENST | Strand | BPexon | TotalExon | Protein feature loci | *BPloci | TotalLen | Interaction lost with |
Top |
Related Drugs for CD3D-KIAA0100 |
Drugs targeting genes involved in this fusion gene. (DrugBank Version 5.1.8 2021-05-08) |
Partner | Gene | UniProtAcc | DrugBank ID | Drug name | Drug activity | Drug type | Drug status |
Hgene | CD3D | P04234 | DB00075 | Muromonab | Biotech | Approved|Investigational | |
Hgene | CD3D | P04234 | DB00075 | Muromonab | Biotech | Approved|Investigational | |
Hgene | CD3D | P04234 | DB09052 | Blinatumomab | Activator | Biotech | Approved|Investigational |
Hgene | CD3D | P04234 | DB09052 | Blinatumomab | Activator | Biotech | Approved|Investigational |
Top |
Related Diseases for CD3D-KIAA0100 |
Diseases associated with fusion partners. (DisGeNet 4.0) |
Partner | Gene | Disease ID | Disease name | # pubmeds | Source |
Hgene | CD3D | C0008312 | Primary biliary cirrhosis | 1 | CTD_human |
Hgene | CD3D | C0023892 | Biliary cirrhosis | 1 | CTD_human |
Hgene | CD3D | C0023895 | Liver diseases | 1 | CTD_human |
Hgene | CD3D | C0085110 | Severe Combined Immunodeficiency | 1 | CTD_human;GENOMICS_ENGLAND |
Hgene | CD3D | C0086565 | Liver Dysfunction | 1 | CTD_human |
Hgene | CD3D | C0149504 | Encephalopathy, Toxic | 1 | CTD_human |
Hgene | CD3D | C0154659 | Toxic Encephalitis | 1 | CTD_human |
Hgene | CD3D | C0162820 | Dermatitis, Allergic Contact | 1 | CTD_human |
Hgene | CD3D | C0235032 | Neurotoxicity Syndromes | 1 | CTD_human |
Hgene | CD3D | C0238065 | Secondary Biliary Cholangitis | 1 | CTD_human |
Hgene | CD3D | C0242583 | Bare Lymphocyte Syndrome | 1 | CTD_human |
Hgene | CD3D | C2700553 | Omenn Syndrome | 1 | CTD_human |
Hgene | CD3D | C4551595 | Biliary Cirrhosis, Primary, 1 | 1 | CTD_human |