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Fusion gene ID: 6704 |
FusionGeneSummary for CECR2_METAP2 |
 Fusion gene summary |
| Fusion gene information | Fusion gene name: CECR2_METAP2 | Fusion gene ID: 6704 | Hgene | Tgene | Gene symbol | CECR2 | METAP2 | Gene ID | 27443 | 10988 |
| Gene name | CECR2, histone acetyl-lysine reader | methionyl aminopeptidase 2 | |
| Synonyms | - | MAP2|MNPEP|p67eIF2 | |
| Cytomap | 22q11.1-q11.21 | 12q22 | |
| Type of gene | protein-coding | protein-coding | |
| Description | cat eye syndrome critical region protein 2cat eye syndrome chromosome region, candidate 2 | methionine aminopeptidase 2eIF-2-associated p67 homologinitiation factor 2-associated 67 kDa glycoproteinpeptidase M 2testicular tissue protein Li 17 | |
| Modification date | 20180519 | 20180519 | |
| UniProtAcc | Q9BXF3 | P50579 | |
| Ensembl transtripts involved in fusion gene | ENST00000342247, ENST00000400585, ENST00000497534, ENST00000400573, ENST00000262608, | ENST00000323666, ENST00000546753, ENST00000261220, ENST00000550777, ENST00000551840, | |
| Fusion gene scores | * DoF score | 4 X 4 X 1=16 | 3 X 3 X 2=18 |
| # samples | 4 | 3 | |
| ** MAII score | log2(4/16*10)=1.32192809488736 effective Gene in Pan-Cancer Fusion Genes (eGinPCFGs). DoF>8 and MAII>0 | log2(3/18*10)=0.736965594166206 effective Gene in Pan-Cancer Fusion Genes (eGinPCFGs). DoF>8 and MAII>0 | |
| Context | PubMed: CECR2 [Title/Abstract] AND METAP2 [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 | CECR2 | GO:0043044 | ATP-dependent chromatin remodeling | 15640247 |
| Hgene | CECR2 | GO:0097194 | execution phase of apoptosis | 12762840 |
| Tgene | METAP2 | GO:0016485 | protein processing | 8858118 |
| Tgene | METAP2 | GO:0018206 | peptidyl-methionine modification | 8858118 |
| Tgene | METAP2 | GO:0031365 | N-terminal protein amino acid modification | 8858118 |
| 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 |
| ChiTaRS3.1 | CN366199 | CECR2 | chr22 | 17982151 | + | METAP2 | chr12 | 95867988 | + |
| * 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 |
| Frame-shift | ENST00000342247 | ENST00000323666 | CECR2 | chr22 | 17982151 | + | METAP2 | chr12 | 95867988 | + |
| Frame-shift | ENST00000342247 | ENST00000546753 | CECR2 | chr22 | 17982151 | + | METAP2 | chr12 | 95867988 | + |
| Frame-shift | ENST00000342247 | ENST00000261220 | CECR2 | chr22 | 17982151 | + | METAP2 | chr12 | 95867988 | + |
| Frame-shift | ENST00000342247 | ENST00000550777 | CECR2 | chr22 | 17982151 | + | METAP2 | chr12 | 95867988 | + |
| Frame-shift | ENST00000342247 | ENST00000551840 | CECR2 | chr22 | 17982151 | + | METAP2 | chr12 | 95867988 | + |
| Frame-shift | ENST00000400585 | ENST00000323666 | CECR2 | chr22 | 17982151 | + | METAP2 | chr12 | 95867988 | + |
| Frame-shift | ENST00000400585 | ENST00000546753 | CECR2 | chr22 | 17982151 | + | METAP2 | chr12 | 95867988 | + |
| Frame-shift | ENST00000400585 | ENST00000261220 | CECR2 | chr22 | 17982151 | + | METAP2 | chr12 | 95867988 | + |
| Frame-shift | ENST00000400585 | ENST00000550777 | CECR2 | chr22 | 17982151 | + | METAP2 | chr12 | 95867988 | + |
| Frame-shift | ENST00000400585 | ENST00000551840 | CECR2 | chr22 | 17982151 | + | METAP2 | chr12 | 95867988 | + |
| intron-3CDS | ENST00000497534 | ENST00000323666 | CECR2 | chr22 | 17982151 | + | METAP2 | chr12 | 95867988 | + |
| intron-3CDS | ENST00000497534 | ENST00000546753 | CECR2 | chr22 | 17982151 | + | METAP2 | chr12 | 95867988 | + |
| intron-3CDS | ENST00000497534 | ENST00000261220 | CECR2 | chr22 | 17982151 | + | METAP2 | chr12 | 95867988 | + |
| intron-3CDS | ENST00000497534 | ENST00000550777 | CECR2 | chr22 | 17982151 | + | METAP2 | chr12 | 95867988 | + |
| intron-3CDS | ENST00000497534 | ENST00000551840 | CECR2 | chr22 | 17982151 | + | METAP2 | chr12 | 95867988 | + |
| Frame-shift | ENST00000400573 | ENST00000323666 | CECR2 | chr22 | 17982151 | + | METAP2 | chr12 | 95867988 | + |
| Frame-shift | ENST00000400573 | ENST00000546753 | CECR2 | chr22 | 17982151 | + | METAP2 | chr12 | 95867988 | + |
| Frame-shift | ENST00000400573 | ENST00000261220 | CECR2 | chr22 | 17982151 | + | METAP2 | chr12 | 95867988 | + |
| Frame-shift | ENST00000400573 | ENST00000550777 | CECR2 | chr22 | 17982151 | + | METAP2 | chr12 | 95867988 | + |
| Frame-shift | ENST00000400573 | ENST00000551840 | CECR2 | chr22 | 17982151 | + | METAP2 | chr12 | 95867988 | + |
| Frame-shift | ENST00000262608 | ENST00000323666 | CECR2 | chr22 | 17982151 | + | METAP2 | chr12 | 95867988 | + |
| Frame-shift | ENST00000262608 | ENST00000546753 | CECR2 | chr22 | 17982151 | + | METAP2 | chr12 | 95867988 | + |
| Frame-shift | ENST00000262608 | ENST00000261220 | CECR2 | chr22 | 17982151 | + | METAP2 | chr12 | 95867988 | + |
| Frame-shift | ENST00000262608 | ENST00000550777 | CECR2 | chr22 | 17982151 | + | METAP2 | chr12 | 95867988 | + |
| Frame-shift | ENST00000262608 | ENST00000551840 | CECR2 | chr22 | 17982151 | + | METAP2 | chr12 | 95867988 | + |
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FusionProtFeatures for CECR2_METAP2 |
| Main function of each fusion partner protein. (from UniProt) |
| Hgene | Tgene |
| CECR2 | METAP2 |
| Chromatin reader component of histone-modifyingcomplexes, such as the CERF (CECR2-containing-remodeling factor)complex and ISWI-type complex (PubMed:15640247, PubMed:26365797,PubMed:22464331). It thereby plays a role in various processesduring development: required during embryogenesis for neural tubeclosure and inner ear development. In adults, required forspermatogenesis, via the formation of ISWI-type chromatincomplexes (By similarity). In histone-modifying complexes, CECR2recognizes and binds acylated histones: binds histones that areacetylated and/or butyrylated (PubMed:26365797, PubMed:22464331).May also be involved through its interaction with LRPPRC in theintegration of cytoskeletal network with vesicular trafficking,nucleocytosolic shuttling, transcription, chromosome remodelingand cytokinesis (PubMed:11827465). {ECO:0000250|UniProtKB:E9Q2Z1,ECO:0000269|PubMed:11827465, ECO:0000269|PubMed:15640247,ECO:0000269|PubMed:22464331, ECO:0000269|PubMed:26365797}. | Cotranslationally removes the N-terminal methionine fromnascent proteins. The N-terminal methionine is often cleaved whenthe second residue in the primary sequence is small and uncharged(Met-Ala-, Cys, Gly, Pro, Ser, Thr, or Val). The catalyticactivity of human METAP2 toward Met-Val peptides is consistentlytwo orders of magnitude higher than that of METAP1, suggestingthat it is responsible for processing proteins containing N-terminal Met-Val and Met-Thr sequences in vivo. Protects eukaryotic initiation factor EIF2S1 fromtranslation-inhibiting phosphorylation by inhibitory kinases suchas EIF2AK2/PKR and EIF2AK1/HCR. Plays a critical role in theregulation of protein synthesis. |
| 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 CECR2_METAP2 |
| 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 CECR2_METAP2 |
| 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 |
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RelatedDrugs for CECR2_METAP2 |
| 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 |
| Tgene | METAP2 | P50579 | DB01422 | Nitroxoline | Methionine aminopeptidase 2 {ECO:0000255|HAMAP-Rule:MF_03175} | small molecule | approved |
| Tgene | METAP2 | P50579 | DB00134 | Methionine | Methionine aminopeptidase 2 {ECO:0000255|HAMAP-Rule:MF_03175} | small molecule | approved|nutraceutical |
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RelatedDiseases for CECR2_METAP2 |
| Diseases associated with fusion partners. (DisGeNet 4.0) |
| Partner | Gene | Disease ID | Disease name | # pubmeds | Source |
| Hgene | CECR2 | C0027794 | Neural Tube Defects | 1 | CTD_human |
Copyright 2018-Present -The University of Texas Health Science Center at Houston (UTHealth)
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