|
||||||
|
 | |
| |
| |
| |
| |
|
Fusion gene ID: 12026 |
FusionGeneSummary for ERI3_CMPK1 |
 Fusion gene summary |
| Fusion gene information | Fusion gene name: ERI3_CMPK1 | Fusion gene ID: 12026 | Hgene | Tgene | Gene symbol | ERI3 | CMPK1 | Gene ID | 79033 | 51727 |
| Gene name | ERI1 exoribonuclease family member 3 | cytidine/uridine monophosphate kinase 1 | |
| Synonyms | PINT1|PRNPIP | CK|CMK|CMPK|UMK|UMP-CMPK|UMPK | |
| Cytomap | 1p34.1 | 1p33 | |
| Type of gene | protein-coding | protein-coding | |
| Description | ERI1 exoribonuclease 3enhanced RNAi three prime mRNA exonuclease homolog 3prion interactor 1prion protein-interacting protein | UMP-CMP kinaseUMP/CMP kinasecytidine monophosphate (UMP-CMP) kinase 1, cytosoliccytidylate kinasedCMP kinasedeoxycytidylate kinasenucleoside-diphosphate kinaseuridine monophosphate kinaseuridine monophosphate/cytidine monophosphate kinase | |
| Modification date | 20180523 | 20180519 | |
| UniProtAcc | O43414 | P30085 | |
| Ensembl transtripts involved in fusion gene | ENST00000372259, ENST00000372257, ENST00000537474, ENST00000495828, | ENST00000371873, ENST00000450808, ENST00000471289, | |
| Fusion gene scores | * DoF score | 4 X 4 X 4=64 | 5 X 3 X 3=45 |
| # samples | 4 | 5 | |
| ** MAII score | log2(4/64*10)=-0.678071905112638 possibly effective Gene in Pan-Cancer Fusion Genes (peGinPCFGs). DoF>8 and MAII<0 | log2(5/45*10)=0.15200309344505 effective Gene in Pan-Cancer Fusion Genes (eGinPCFGs). DoF>8 and MAII>0 | |
| Context | PubMed: ERI3 [Title/Abstract] AND CMPK1 [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 |
| Tgene | CMPK1 | GO:0006165 | nucleoside diphosphate phosphorylation | 23416111 |
| Tgene | CMPK1 | GO:0009142 | nucleoside triphosphate biosynthetic process | 23416111 |
| 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 | BRCA | TCGA-A7-A5ZV-01A | ERI3 | chr1 | 44820564 | - | CMPK1 | chr1 | 47834141 | + |
| * 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 |
| intron-3CDS | ENST00000372259 | ENST00000371873 | ERI3 | chr1 | 44820564 | - | CMPK1 | chr1 | 47834141 | + |
| intron-intron | ENST00000372259 | ENST00000450808 | ERI3 | chr1 | 44820564 | - | CMPK1 | chr1 | 47834141 | + |
| intron-intron | ENST00000372259 | ENST00000471289 | ERI3 | chr1 | 44820564 | - | CMPK1 | chr1 | 47834141 | + |
| In-frame | ENST00000372257 | ENST00000371873 | ERI3 | chr1 | 44820564 | - | CMPK1 | chr1 | 47834141 | + |
| 5CDS-intron | ENST00000372257 | ENST00000450808 | ERI3 | chr1 | 44820564 | - | CMPK1 | chr1 | 47834141 | + |
| 5CDS-intron | ENST00000372257 | ENST00000471289 | ERI3 | chr1 | 44820564 | - | CMPK1 | chr1 | 47834141 | + |
| intron-3CDS | ENST00000537474 | ENST00000371873 | ERI3 | chr1 | 44820564 | - | CMPK1 | chr1 | 47834141 | + |
| intron-intron | ENST00000537474 | ENST00000450808 | ERI3 | chr1 | 44820564 | - | CMPK1 | chr1 | 47834141 | + |
| intron-intron | ENST00000537474 | ENST00000471289 | ERI3 | chr1 | 44820564 | - | CMPK1 | chr1 | 47834141 | + |
| 5UTR-3CDS | ENST00000495828 | ENST00000371873 | ERI3 | chr1 | 44820564 | - | CMPK1 | chr1 | 47834141 | + |
| 5UTR-intron | ENST00000495828 | ENST00000450808 | ERI3 | chr1 | 44820564 | - | CMPK1 | chr1 | 47834141 | + |
| 5UTR-intron | ENST00000495828 | ENST00000471289 | ERI3 | chr1 | 44820564 | - | CMPK1 | chr1 | 47834141 | + |
Top |
FusionProtFeatures for ERI3_CMPK1 |
| Main function of each fusion partner protein. (from UniProt) |
| Hgene | Tgene |
| ERI3 | CMPK1 |
| Catalyzes the phosphorylation of pyrimidine nucleosidemonophosphates at the expense of ATP. Plays an important role inde novo pyrimidine nucleotide biosynthesis. Has preference for UMPand CMP as phosphate acceptors. Also displays broad nucleosidediphosphate kinase activity. {ECO:0000255|HAMAP-Rule:MF_03172,ECO:0000269|PubMed:10462544, ECO:0000269|PubMed:11912132,ECO:0000269|PubMed:23416111}. |
| 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 |
FusionGeneSequence for ERI3_CMPK1 |
| 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. |
| >In-frame_ERI3_ENST00000372257_chr1_44820564_-_CMPK1_ENST00000371873_chr1_47834141_+_217aa MATASPAADGGRGRPWEGGLVSWPPAPPLTLPWTWMGPSWGQHPGKYGYTHLSAGELLRDERKNPDSQYGELIEKYIKEGKIVPVEITIS LLKREMDQTMAANAQKNKFLIDGFPRNQDNLQGWNKTMDGKADVSFVLFFDCNNEICIERCLERGKSSGRSDDNRESLEKRIQTYLQSTK |
| * Fusion transcript sequences (only coding sequence (CDS) region). |
| >In-frame_ERI3_ENST00000372257_chr1_44820564_-_CMPK1_ENST00000371873_chr1_47834141_+_651nt ATGGCGACAGCCTCTCCCGCTGCTGACGGGGGGCGGGGGCGGCCCTGGGAAGGAGGGCTGGTCTCCTGGCCCCCCGCCCCTCCCCTTACT CTCCCCTGGACTTGGATGGGCCCGAGTTGGGGGCAACACCCCGGGAAATATGGCTACACACACCTTTCTGCAGGAGAGCTGCTTCGTGAT GAAAGGAAGAACCCAGATTCACAGTATGGTGAACTTATTGAAAAGTACATTAAAGAAGGAAAGATTGTACCAGTTGAGATAACCATCAGT TTATTAAAGAGGGAAATGGATCAGACAATGGCTGCCAATGCTCAGAAGAATAAATTCTTGATTGATGGGTTTCCAAGAAATCAAGACAAC CTTCAAGGATGGAACAAGACCATGGATGGGAAGGCAGATGTATCTTTCGTTCTCTTTTTTGACTGTAATAATGAGATTTGTATTGAACGA TGTCTTGAGAGGGGAAAGAGTAGTGGTAGGAGTGATGACAACAGAGAGAGCTTGGAAAAGAGAATTCAGACCTACCTTCAGTCAACAAAG CCAATTATTGACTTATATGAAGAAATGGGGAAAGTCAAGAAAATAGATGCTTCTAAATCTGTTGATGAAGTTTTTGATGAAGTTGTGCAG |
| * Fusion transcript sequences (Full-length transcript). |
| >In-frame_ERI3_ENST00000372257_chr1_44820564_-_CMPK1_ENST00000371873_chr1_47834141_+_2927nt CCGGGAACGGGCGGTGGGGAGCGGGCGGAGCTGGCCCTGCCTCTGCCTGGCCGGCGCCGCAGTCGGCGCGGGCCGCGCCCGCCGCCGCCA ACTGCCCTGAGCGCTTGCTGAGGCCGAGGGAGACGTCGGGGCCTGCACCTGGAGGGAGCCTGCCGCGCTGGCCCCGAGGAGGGGGCGTTG CCATGGCGACAGCCTCTCCCGCTGCTGACGGGGGGCGGGGGCGGCCCTGGGAAGGAGGGCTGGTCTCCTGGCCCCCCGCCCCTCCCCTTA CTCTCCCCTGGACTTGGATGGGCCCGAGTTGGGGGCAACACCCCGGGAAATATGGCTACACACACCTTTCTGCAGGAGAGCTGCTTCGTG ATGAAAGGAAGAACCCAGATTCACAGTATGGTGAACTTATTGAAAAGTACATTAAAGAAGGAAAGATTGTACCAGTTGAGATAACCATCA GTTTATTAAAGAGGGAAATGGATCAGACAATGGCTGCCAATGCTCAGAAGAATAAATTCTTGATTGATGGGTTTCCAAGAAATCAAGACA ACCTTCAAGGATGGAACAAGACCATGGATGGGAAGGCAGATGTATCTTTCGTTCTCTTTTTTGACTGTAATAATGAGATTTGTATTGAAC GATGTCTTGAGAGGGGAAAGAGTAGTGGTAGGAGTGATGACAACAGAGAGAGCTTGGAAAAGAGAATTCAGACCTACCTTCAGTCAACAA AGCCAATTATTGACTTATATGAAGAAATGGGGAAAGTCAAGAAAATAGATGCTTCTAAATCTGTTGATGAAGTTTTTGATGAAGTTGTGC AGATTTTTGACAAGGAAGGCTAATTCTAAACCTGAAGGCATCCTTGAAATCATGCTTGAATATTGCTTTGATAGCTGCTATCATGACCCC TTTTTAAGGCAATTCTAATCTTTCATAACTACATCTCAATTAGTGGCTGGAAAGTACATGGTAAAACAAAGTAAATTTTTTTATGTTCTT TTTTTTGGTCACAGGAGTAGACAGTGAATTCAGGTTTAACTTCACCTTAGTTATGGTGCTCACCAAACGAAGGGTATCAGCTATTTTTTT TAAAATTCAAAAAGAATATCCCTTTTATAGTTTGTGCCTTCTGTGAGCAAAACTTTTTAGTACGCGTATATATCCCTCTAGTAATCACAA CATTTTAGGATTTAGGGATACCCGCTTCCTCTTTTTCTTGCAAGTTTTAAATTTCCAACCTTAAGTGAATTTGTGGACCAAATTTCAAAG GAACTTTTTGTGTAGTCAGTTCTTGCACAATGTGTTTGGTAAACAAACTCAAAATGGATTCTTAGGAGCATTTTAGTGTTTATTAAATAA CTGACCATTTGCTGTAGAAAGATGAGAAAACTTAAGCTTTGTTTTACTACAACTTGTACAAAGTTGTATGACAGGGCATATTCTTTGCTT CCAAGATTTGGGTTGGGGGCACTAGGGGTTCAGAGCCTGGCAGAATTGTCAGCTTTAGTCTGACATAATCTAAGGGTATGGGGCAAGGAT CACATCTAATGCTTGTGTTCCTTATACTCTATTATATAGTGTTATTCATGATTCAGCTGATCTTAACAAAATTCGTAGCAGTGGAACCTT GAAATGCATGTGGCTAGATTTATGCTAAAATGATTCTCAGTTAGCATTTTAGTAACACTTCAAAGGTTTTTTTTTGTTTGTTTTCTAGAC TTAATAAAAGCTTAGGATTAATTAGAAGAAGCAATCTAGTTAAATTTCCCATTTGTATTTTATTTTCTTGAATACTTTTTTCATAGTTAT TTGTTTAAAAAGATTTAAAAATCATTGCACTTTGGTCAGAAAAATAATAAATATATCTTATAAATGTTTGATTCCCTTCCTTGCTATTTT TATTCAGTAGATTTTTGTTTGGCATCATGTTGAAGCACCGAAAGATAAATGATTTTTAAAAGGCTATAGAGTCCAAAGGAATATTCTTTT ACACCAATTCTTCCTTTAAAAATCTCTGAGGAATTTGTTTTCGCCTTACTTTTTTTTCTTCTGTCACAATGCTAAGTGGTATCCGAGGTT CTTAATATGAGATTTAAAATCTTAAAATGTTTCTTATTTTCAGCACTTACATCATTTGGTACACAGGGTCAAATAGGGCAAATAATTTTG TCTTTGTATAATAGATTTGATATTTAAAGTCACTGGAAATAGGACAAGTTAATGGATGTTTTTATATTTTAATAGAATCATTTATTTCTA TGTGTTATGAAATTCACTTAATGATAAATTTTTCAACATACTTGCCATTAGAAAACAAAGTATTGCTAAGTACTATAACATATTGGCCAC TAAAATTCATATTGAGATTATCTTGGTTTCTTGGAAGAGATAGGAATGAGTTCTTATCTAGTGTTGCAGGCCAGCAAATACAGAGGTGGT TTAATCAAACAGCTCTAGTATGAAGCAAGAGTAAAGACTAAGGTTTCGAGAGCATTCCTACTCACATAAGTGAAGAAATCTGTCAGATAG GAATCTAAATATTTATAGTGAGATTGTGAAAGCAACCTTAAAGTTTTGAAGAAGACTGATGAGACTAGGTGCTTTGCTTCCTTTCATCAG GTATCTTTCTGTGGCATTTGAGAACAGAAACCAAGAAACATGGTAATTACTAAATTATGAGGCTTTGCTTTTTGTTTGCTTTTAAGTAGA AAAACATGTTGGCAACATTGAGTTTTGGAGTTGATTGAGATAATATGACTTAACTAGTTTTGTCATTCCATTTGTTAAAGATACAGTCAC CAAGAATGTTTTGAGTTTTTTGAAAGACCCCAATTTAAGCCTTGCTTATTTTTAAATTATTTCCATTCAGTGATGTTGGATGTATATCAG |
Top |
FusionGenePPI for ERI3_CMPK1 |
| 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 |
| ERI3 | TTK, CENPO, RAPGEF2, KCNJ5, CELF5, PSMD9, ARHGAP22 | CMPK1 | ELAVL1, MOV10, NXF1, TTC19, ACOT13, ETFA, ECE2, NIT2, TATDN1, TRIM25 |
| - 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 |
RelatedDrugs for ERI3_CMPK1 |
| 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 | CMPK1 | P30085 | DB00441 | Gemcitabine | UMP-CMP kinase {ECO:0000255|HAMAP-Rule:MF_03172} | small molecule | approved |
Top |
RelatedDiseases for ERI3_CMPK1 |
| Diseases associated with fusion partners. (DisGeNet 4.0) |
| Partner | Gene | Disease ID | Disease name | # pubmeds | Source |
Copyright 2018-Present -The University of Texas Health Science Center at Houston (UTHealth)
|