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Fusion gene ID: 11220 |
FusionGeneSummary for EIF2B3_CNTNAP2 |
 Fusion gene summary |
| Fusion gene information | Fusion gene name: EIF2B3_CNTNAP2 | Fusion gene ID: 11220 | Hgene | Tgene | Gene symbol | EIF2B3 | CNTNAP2 | Gene ID | 8891 | 26047 |
| Gene name | eukaryotic translation initiation factor 2B subunit gamma | contactin associated protein like 2 | |
| Synonyms | EIF-2B|EIF2Bgamma | AUTS15|CASPR2|CDFE|NRXN4|PTHSL1 | |
| Cytomap | 1p34.1 | 7q35-q36.1 | |
| Type of gene | protein-coding | protein-coding | |
| Description | translation initiation factor eIF-2B subunit gammaeIF-2B GDP-GTP exchange factor subunit gammaeukaryotic translation initiation factor 2B, subunit 3 gamma, 58kDa | contactin-associated protein-like 2cell recognition molecule Caspr2homolog of Drosophila neurexin IV | |
| Modification date | 20180519 | 20180519 | |
| UniProtAcc | Q9NR50 | Q9UHC6 | |
| Ensembl transtripts involved in fusion gene | ENST00000360403, ENST00000372183, ENST00000480675, | ENST00000361727, ENST00000538075, ENST00000463592, | |
| Fusion gene scores | * DoF score | 4 X 2 X 4=32 | 8 X 8 X 7=448 |
| # samples | 4 | 9 | |
| ** MAII score | log2(4/32*10)=0.321928094887362 effective Gene in Pan-Cancer Fusion Genes (eGinPCFGs). DoF>8 and MAII>0 | log2(9/448*10)=-2.31550182572793 possibly effective Gene in Pan-Cancer Fusion Genes (peGinPCFGs). DoF>8 and MAII<0 | |
| Context | PubMed: EIF2B3 [Title/Abstract] AND CNTNAP2 [Title/Abstract] AND fusion [Title/Abstract] | ||
| Functional or gene categories assigned by FusionGDB annotation | |||
| * 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 | EIF2B3 | GO:0006413 | translational initiation | 10900014|16289705 |
| Hgene | EIF2B3 | GO:0050852 | T cell receptor signaling pathway | 8626696 |
| Fusion gene information from three resources (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 | LD | OV | TCGA-57-1583-01A | EIF2B3 | chr1 | 45392300 | - | CNTNAP2 | chr7 | 147340479 | + |
| * LD: Li Ding group's fusion gene list RV: Roel Verhaak group's fusion gene list ChiTaRs fusion database |
| 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 |
| 5CDS-intron | ENST00000360403 | ENST00000361727 | EIF2B3 | chr1 | 45392300 | - | CNTNAP2 | chr7 | 147340479 | + |
| 5CDS-intron | ENST00000360403 | ENST00000538075 | EIF2B3 | chr1 | 45392300 | - | CNTNAP2 | chr7 | 147340479 | + |
| 5CDS-intron | ENST00000360403 | ENST00000463592 | EIF2B3 | chr1 | 45392300 | - | CNTNAP2 | chr7 | 147340479 | + |
| 5CDS-intron | ENST00000372183 | ENST00000361727 | EIF2B3 | chr1 | 45392300 | - | CNTNAP2 | chr7 | 147340479 | + |
| 5CDS-intron | ENST00000372183 | ENST00000538075 | EIF2B3 | chr1 | 45392300 | - | CNTNAP2 | chr7 | 147340479 | + |
| 5CDS-intron | ENST00000372183 | ENST00000463592 | EIF2B3 | chr1 | 45392300 | - | CNTNAP2 | chr7 | 147340479 | + |
| 5UTR-intron | ENST00000480675 | ENST00000361727 | EIF2B3 | chr1 | 45392300 | - | CNTNAP2 | chr7 | 147340479 | + |
| 5UTR-intron | ENST00000480675 | ENST00000538075 | EIF2B3 | chr1 | 45392300 | - | CNTNAP2 | chr7 | 147340479 | + |
| 5UTR-intron | ENST00000480675 | ENST00000463592 | EIF2B3 | chr1 | 45392300 | - | CNTNAP2 | chr7 | 147340479 | + |
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FusionProtFeatures for EIF2B3_CNTNAP2 |
| Main function of each fusion partner protein. (from UniProt) |
| Hgene | Tgene |
| EIF2B3 | CNTNAP2 |
| Catalyzes the exchange of eukaryotic initiation factor2-bound GDP for GTP. | Required, with CNTNAP1, for radial and longitudinalorganization of myelinated axons. Plays a role in the formation offunctional distinct domains critical for saltatory conduction ofnerve impulses in myelinated nerve fibers. Demarcates thejuxtaparanodal region of the axo-glial junction.{ECO:0000250|UniProtKB:Q9CPW0}. |
| 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 |
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FusionGeneSequence for EIF2B3_CNTNAP2 |
| For in-frame fusion transcripts, we provide the fusion transcript sequences and fusion amino acid sequences. (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 EIF2B3_CNTNAP2 |
| 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 |
| EIF2B3 | EIF2B1, STC2, NDUFB8, EIF2B5, EIF2B4, EIF2B2, EGFR, FBXO6, ABCF1, C14orf166, RTCB, NELFB, YBX3, DDX1, DHX9, DIMT1, EDC4, EIF3C, FKBP3, FLII, G3BP1, HNRNPM, HNRNPU, IGF2BP3, ILF2, MRE11A, NMT1, QARS, RFC4, VTI1B, STX12, ECH1, CA14, GPR183, PNKD, P2RX4, OPN3, SPN, PTGER3, SCN2B, PVRL4, HNRNPA1, XPO1, CDC42, ZWINT, GYPB, SYT1, SIGLECL1, EPHA1, TMEM206, UXS1, FZD10, CD70, CD4, HTR2C, SMDT1 | CNTNAP2 | CNTN2, EPB41L3, CASK, CTR9, ZMIZ1, MACF1, IQCB1, MEOX2 |
| - 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 |
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RelatedDrugs for EIF2B3_CNTNAP2 |
| Drugs targeting genes involved in this fusion gene. (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 EIF2B3_CNTNAP2 |
| Diseases associated with fusion partners. (DisGeNet 4.0) |
| Partner | Gene | Disease ID | Disease name | # pubmeds | Source |
| Hgene | EIF2B3 | C1858991 | Childhood Ataxia with Central Nervous System Hypomyelinization | 3 | ORPHANET;UNIPROT |
| Tgene | CNTNAP2 | C0004352 | Autistic Disorder | 4 | CTD_human |
| Tgene | CNTNAP2 | C1510586 | Autism Spectrum Disorders | 4 | CTD_human |
| Tgene | CNTNAP2 | C0023014 | Language Development Disorders | 3 | CTD_human |
| Tgene | CNTNAP2 | C0014544 | Epilepsy | 2 | CTD_human;HPO |
| Tgene | CNTNAP2 | C0001973 | Alcoholic Intoxication, Chronic | 1 | PSYGENET |
| Tgene | CNTNAP2 | C0005586 | Bipolar Disorder | 1 | PSYGENET |
| Tgene | CNTNAP2 | C0036341 | Schizophrenia | 1 | CTD_human |
| Tgene | CNTNAP2 | C0038506 | Stuttering | 1 | CTD_human |
| Tgene | CNTNAP2 | C0041696 | Unipolar Depression | 1 | PSYGENET |
| Tgene | CNTNAP2 | C0149925 | Small cell carcinoma of lung | 1 | CTD_human |
| Tgene | CNTNAP2 | C0424295 | Hyperactive behavior | 1 | CTD_human;HPO |
| Tgene | CNTNAP2 | C1269683 | Major Depressive Disorder | 1 | PSYGENET |
| Tgene | CNTNAP2 | C1970431 | PITT-HOPKINS SYNDROME | 1 | CTD_human |
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