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Fusion gene ID: 11197 |
FusionGeneSummary for EIF2AK1_PHF14 |
 Fusion gene summary |
| Fusion gene information | Fusion gene name: EIF2AK1_PHF14 | Fusion gene ID: 11197 | Hgene | Tgene | Gene symbol | EIF2AK1 | PHF14 | Gene ID | 27102 | 9678 |
| Gene name | eukaryotic translation initiation factor 2 alpha kinase 1 | PHD finger protein 14 | |
| Synonyms | HCR|HRI | - | |
| Cytomap | 7p22.1 | 7p21.3 | |
| Type of gene | protein-coding | protein-coding | |
| Description | eukaryotic translation initiation factor 2-alpha kinase 1heme regulated initiation factor 2 alpha kinaseheme sensitive initiation factor 2a kinaseheme-controlled repressorheme-regulated eukaryotic initiation factor eIF-2-alpha kinaseheme-regulated in | PHD finger protein 14 | |
| Modification date | 20180523 | 20180519 | |
| UniProtAcc | Q9BQI3 | O94880 | |
| Ensembl transtripts involved in fusion gene | ENST00000199389, ENST00000536084, ENST00000495565, | ENST00000403050, ENST00000445996, ENST00000469407, | |
| Fusion gene scores | * DoF score | 7 X 5 X 6=210 | 7 X 5 X 6=210 |
| # samples | 8 | 7 | |
| ** MAII score | log2(8/210*10)=-1.39231742277876 possibly effective Gene in Pan-Cancer Fusion Genes (peGinPCFGs). DoF>8 and MAII<0 | log2(7/210*10)=-1.58496250072116 possibly effective Gene in Pan-Cancer Fusion Genes (peGinPCFGs). DoF>8 and MAII<0 | |
| Context | PubMed: EIF2AK1 [Title/Abstract] AND PHF14 [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 | EIF2AK1 | GO:1990641 | response to iron ion starvation | 11036079 |
| 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 | RV | SARC | TCGA-JV-A75J-01A | EIF2AK1 | chr7 | 6094177 | - | PHF14 | chr7 | 11091239 | + |
| * 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 | ENST00000199389 | ENST00000403050 | EIF2AK1 | chr7 | 6094177 | - | PHF14 | chr7 | 11091239 | + |
| Frame-shift | ENST00000199389 | ENST00000445996 | EIF2AK1 | chr7 | 6094177 | - | PHF14 | chr7 | 11091239 | + |
| 5CDS-intron | ENST00000199389 | ENST00000469407 | EIF2AK1 | chr7 | 6094177 | - | PHF14 | chr7 | 11091239 | + |
| In-frame | ENST00000536084 | ENST00000403050 | EIF2AK1 | chr7 | 6094177 | - | PHF14 | chr7 | 11091239 | + |
| In-frame | ENST00000536084 | ENST00000445996 | EIF2AK1 | chr7 | 6094177 | - | PHF14 | chr7 | 11091239 | + |
| 5CDS-intron | ENST00000536084 | ENST00000469407 | EIF2AK1 | chr7 | 6094177 | - | PHF14 | chr7 | 11091239 | + |
| intron-3CDS | ENST00000495565 | ENST00000403050 | EIF2AK1 | chr7 | 6094177 | - | PHF14 | chr7 | 11091239 | + |
| intron-3CDS | ENST00000495565 | ENST00000445996 | EIF2AK1 | chr7 | 6094177 | - | PHF14 | chr7 | 11091239 | + |
| intron-intron | ENST00000495565 | ENST00000469407 | EIF2AK1 | chr7 | 6094177 | - | PHF14 | chr7 | 11091239 | + |
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FusionProtFeatures for EIF2AK1_PHF14 |
| Main function of each fusion partner protein. (from UniProt) |
| Hgene | Tgene |
| EIF2AK1 | PHF14 |
| 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 EIF2AK1_PHF14 |
| 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_EIF2AK1_ENST00000536084_chr7_6094177_-_PHF14_ENST00000403050_chr7_11091239_+_131aa MNQTHFVQDRCLSAVLGMXPGREQXHGSRYGHGNPTRWNQTIKEADXGTSEICSTGCATRTQEDSDKKHENQRTKTKLRSXGRKTXGKSS >In-frame_EIF2AK1_ENST00000536084_chr7_6094177_-_PHF14_ENST00000445996_chr7_11091239_+_191aa MNQTHFVQDRCLSAVLGMXPGREQXHGSRYGHGNPTRWNQTIKEADXGTSEICSTGCATRTQEDSDKKHENQRTKTKLRSXGRKTXGKSS XREKTKTVCVAKEAQGXRFKNXMCNLQGNWRQXKSCQVXXMQTLLPFWLFGSSFEKVSXTDRLRMDMSGMXFFIFQGRXKXSXKKKYISG |
| * Fusion transcript sequences (only coding sequence (CDS) region). |
| >In-frame_EIF2AK1_ENST00000536084_chr7_6094177_-_PHF14_ENST00000403050_chr7_11091239_+_394nt ATGAACCAAACCCACTTCGTTCAAGACAGGTGTTTAAGCGCAGTGCTCGGAATGTGACCAGGCAGGGAGCAGTGACATGGAAGCAGATAT GGCCATGGAAACCCTACCAGATGGAACCAAACGATCAAGGAGGCAGATTAAGGAACCAGTGAAATTTGTTCCACAGGATGTGCCACCAGA ACCCAAGAAGATTCCGATAAGAAACACGAGAACCAGAGGACGAAAACGAAGCTTCGTTCCTGAGGAAGAAAAACATGAGGAAAGAGTTCC TAGAGAGAGAAGACAAAGACAGTCTGTGTTGCAAAAGAAGCCCAAGGCTGAAGATTTAAGAACTGAATGTGCAACTTGCAAGGGAACTGG >In-frame_EIF2AK1_ENST00000536084_chr7_6094177_-_PHF14_ENST00000445996_chr7_11091239_+_574nt ATGAACCAAACCCACTTCGTTCAAGACAGGTGTTTAAGCGCAGTGCTCGGAATGTGACCAGGCAGGGAGCAGTGACATGGAAGCAGATAT GGCCATGGAAACCCTACCAGATGGAACCAAACGATCAAGGAGGCAGATTAAGGAACCAGTGAAATTTGTTCCACAGGATGTGCCACCAGA ACCCAAGAAGATTCCGATAAGAAACACGAGAACCAGAGGACGAAAACGAAGCTTCGTTCCTGAGGAAGAAAAACATGAGGAAAGAGTTCC TAGAGAGAGAAGACAAAGACAGTCTGTGTTGCAAAAGAAGCCCAAGGCTGAAGATTTAAGAACTGAATGTGCAACTTGCAAGGGAACTGG AGACAATGAAAATCTTGTCAGGTGTGATGAATGCAGACTCTGCTACCATTTTGGCTGTTTGGATCCTCCTTTGAAAAAGTCTCCTAAACA GACAGGCTACGGATGGATATGTCAGGAATGTGATTCTTCATCTTCCAAGGAAGATGAAAATGAAGCTGAAAGAAAAAATATATCTCAGGA |
| * Fusion transcript sequences (Full-length transcript). |
| >In-frame_EIF2AK1_ENST00000536084_chr7_6094177_-_PHF14_ENST00000403050_chr7_11091239_+_1870nt GGACGGCGCTAGCTGCAGCATCGGAGTGTGGCAGTGCTGGGCTGGCCGGCGGGCTGGGCTGCGGCCCGCGCGCGGCCGGCGATGCAGGGG GGCAACTCCGGGGTCCGCAAGCGCGAAGAGGAGGGCGACGGGGCTGGGGCTGTGGCTGCGCCGCCGGCCATCGACTTTCCCGCCGAGGGC CCGGACCCCGAATATGACGAATCTGATGTTCCAGCAGAAATCCAGGTGTTAAAAGAACCCCTACAACAGCCAACCTTCCCTTTTGCAGTT GCAAACCAACTCTTGCTGGTTTCTTTGCTGGAGCACTTGAGCCACGTGCATGAACCAAACCCACTTCGTTCAAGACAGGTGTTTAAGCGC AGTGCTCGGAATGTGACCAGGCAGGGAGCAGTGACATGGAAGCAGATATGGCCATGGAAACCCTACCAGATGGAACCAAACGATCAAGGA GGCAGATTAAGGAACCAGTGAAATTTGTTCCACAGGATGTGCCACCAGAACCCAAGAAGATTCCGATAAGAAACACGAGAACCAGAGGAC GAAAACGAAGCTTCGTTCCTGAGGAAGAAAAACATGAGGAAAGAGTTCCTAGAGAGAGAAGACAAAGACAGTCTGTGTTGCAAAAGAAGC CCAAGGCTGAAGATTTAAGAACTGAATGTGCAACTTGCAAGGGAACTGGAGACAATGAAAATCTTGTCAGATACCCTTCATGAGACCCAA CTCTGCCACAGCTCATCCTCGGAGGCAATCCCGGAAACCTCTTTTATAAGTGTGATTTTAAAAATGTGGATTAAACTCTCGATAGAGTAC ATAAAGTAAAGGAGAACAGCTATATTGTCCTTTCTATAAGCTTGTCACTGCAAAAAGTTGCCTTTTGCTTGTCAGGTTTGGATAGAATAT AATTGATTGGTTTGTTACTTGGACTAACAAGGCAGTAGATTTGCCTGTGTGGAATTTTTTTTCCTATTTTTCTTCTTTTTGCTTTTTTTG CACTTATCAGAAATATTTGATGTGTGCATTGTTGAAAAATACTGGATACATGTCTTGTCAGAATTGTCGTATTAAGTAATGTCTTTCCCT CTTGCTTCTTTGGCAAATGTTGATACACAGTGTTTGGACTTACTGAAGAGTTACTGAAGCCTGTGGGACTTAATAAATACAATATGCTAC TCCCTGTTGTGATTGAACAATACAAATAACAAACAAGAAAGACAATGCATTCCATTAGTCTGCTATTCTGTTTCCTTCAACTTCATACAT AGATTCATATATGAAGTACTGCATTGTAAAACAACTATAGACTCATATTAAATGTTATTTCTATTTATAATATTCAGCAAAAGTGAAAGA CTTGTGAAGCATATGACATTCTATTTTTGACTTATTAGTCCTAGTGTGAAAGCATTAATATTATTAGCATGAAATTTTTACTTCAGATTT TAAGCTCATGAATAAAGATATATCTGTGTTGATCTCTAGATATTTTTAGTAATACCCAAATATATTCAGTCCTTATTGTTTTAATATAAG CTTTCTGTGTTCAGTATAATTTTATTTTTCTCAACCTTAAATATGAACTTAGGAAATAAGGAGGGAAGTACAAAGATTATTGACTATACA ACCTACCAGCTGAAAGAAAGATCTTCATCAACATCTGTATCTTTCCAGAGGTATACAGAATTAAAATTTGATCTTCAAGCTTTAATGATC CAGTTTTAAGTCAACGGCAGAAGTATGTTGAATATTTCATCACTCAATCTTGAACTGATTTAGAAGAGACTCTTTGCTGAAATTGAATTG >In-frame_EIF2AK1_ENST00000536084_chr7_6094177_-_PHF14_ENST00000445996_chr7_11091239_+_893nt GGACGGCGCTAGCTGCAGCATCGGAGTGTGGCAGTGCTGGGCTGGCCGGCGGGCTGGGCTGCGGCCCGCGCGCGGCCGGCGATGCAGGGG GGCAACTCCGGGGTCCGCAAGCGCGAAGAGGAGGGCGACGGGGCTGGGGCTGTGGCTGCGCCGCCGGCCATCGACTTTCCCGCCGAGGGC CCGGACCCCGAATATGACGAATCTGATGTTCCAGCAGAAATCCAGGTGTTAAAAGAACCCCTACAACAGCCAACCTTCCCTTTTGCAGTT GCAAACCAACTCTTGCTGGTTTCTTTGCTGGAGCACTTGAGCCACGTGCATGAACCAAACCCACTTCGTTCAAGACAGGTGTTTAAGCGC AGTGCTCGGAATGTGACCAGGCAGGGAGCAGTGACATGGAAGCAGATATGGCCATGGAAACCCTACCAGATGGAACCAAACGATCAAGGA GGCAGATTAAGGAACCAGTGAAATTTGTTCCACAGGATGTGCCACCAGAACCCAAGAAGATTCCGATAAGAAACACGAGAACCAGAGGAC GAAAACGAAGCTTCGTTCCTGAGGAAGAAAAACATGAGGAAAGAGTTCCTAGAGAGAGAAGACAAAGACAGTCTGTGTTGCAAAAGAAGC CCAAGGCTGAAGATTTAAGAACTGAATGTGCAACTTGCAAGGGAACTGGAGACAATGAAAATCTTGTCAGGTGTGATGAATGCAGACTCT GCTACCATTTTGGCTGTTTGGATCCTCCTTTGAAAAAGTCTCCTAAACAGACAGGCTACGGATGGATATGTCAGGAATGTGATTCTTCAT |
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FusionGenePPI for EIF2AK1_PHF14 |
| 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 |
| EIF2AK1 | CDC37, HSP90AA1, LIG4, MDM2, FASLG, KIAA0141, CDK6, EAF1, DDX20, NAF1, ATRX, AP3B1, POLD1, RBM14, MFAP1 | PHF14 | H2AFY, PCBD2, MOV10, HIST1H2BA, IFI16, DAXX, HDAC1, HNRNPU, TCF20, KAT6A, CDK2AP1, TM9SF4, HMG20A, NLRP3, CEP170P1, H2AFX |
| - 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 EIF2AK1_PHF14 |
| 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 EIF2AK1_PHF14 |
| Diseases associated with fusion partners. (DisGeNet 4.0) |
| Partner | Gene | Disease ID | Disease name | # pubmeds | Source |
| Hgene | EIF2AK1 | C0002878 | Anemia, Hemolytic | 1 | CTD_human |
| Hgene | EIF2AK1 | C0035222 | Respiratory Distress Syndrome, Adult | 1 | CTD_human |
| Hgene | EIF2AK1 | C0038002 | Splenomegaly | 1 | CTD_human |
| Hgene | EIF2AK1 | C4277682 | Chemical and Drug Induced Liver Injury | 1 | CTD_human |
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