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Fusion gene ID: 12146 |
FusionGeneSummary for ETNK1_CMAS |
Fusion gene summary |
Fusion gene information | Fusion gene name: ETNK1_CMAS | Fusion gene ID: 12146 | Hgene | Tgene | Gene symbol | ETNK1 | CMAS | Gene ID | 55500 | 55907 |
Gene name | ethanolamine kinase 1 | cytidine monophosphate N-acetylneuraminic acid synthetase | |
Synonyms | EKI|EKI 1|EKI1|Nbla10396 | CSS | |
Cytomap | 12p12.1 | 12p12.1 | |
Type of gene | protein-coding | protein-coding | |
Description | ethanolamine kinase 1putative protein product of Nbla10396 | N-acylneuraminate cytidylyltransferaseCMP-N-acetylneuraminic acid synthaseCMP-N-acetylneuraminic acid synthetaseCMP-Neu5Ac synthetaseCMP-NeuNAc synthaseCMP-NeuNAc synthetaseCMP-sialic acid synthetasecytidine 5'-monophosphate N-acetylneuraminic acid | |
Modification date | 20180519 | 20180523 | |
UniProtAcc | Q9HBU6 | Q8NFW8 | |
Ensembl transtripts involved in fusion gene | ENST00000266517, ENST00000335148, | ENST00000229329, | |
Fusion gene scores | * DoF score | 8 X 6 X 6=288 | 7 X 5 X 4=140 |
# samples | 9 | 7 | |
** MAII score | log2(9/288*10)=-1.67807190511264 possibly effective Gene in Pan-Cancer Fusion Genes (peGinPCFGs). DoF>8 and MAII<0 | log2(7/140*10)=-1 possibly effective Gene in Pan-Cancer Fusion Genes (peGinPCFGs). DoF>8 and MAII<0 | |
Context | PubMed: ETNK1 [Title/Abstract] AND CMAS [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 | ETNK1 | GO:0006646 | phosphatidylethanolamine biosynthetic process | 11044454 |
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 | LUSC | TCGA-77-8143-01A | ETNK1 | chr12 | 22812088 | + | CMAS | chr12 | 22208083 | + |
* 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 |
In-frame | ENST00000266517 | ENST00000229329 | ETNK1 | chr12 | 22812088 | + | CMAS | chr12 | 22208083 | + |
intron-3CDS | ENST00000335148 | ENST00000229329 | ETNK1 | chr12 | 22812088 | + | CMAS | chr12 | 22208083 | + |
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FusionProtFeatures for ETNK1_CMAS |
Main function of each fusion partner protein. (from UniProt) |
Hgene | Tgene |
ETNK1 | CMAS |
Highly specific for ethanolamine phosphorylation. May bea rate-controlling step in phosphatidylethanolamine biosynthesis. | Catalyzes the activation of N-acetylneuraminic acid(NeuNAc) to cytidine 5'-monophosphate N-acetylneuraminic acid(CMP-NeuNAc), a substrate required for the addition of sialicacid. Has some activity toward NeuNAc, N-glycolylneuraminic acid(Neu5Gc) or 2-keto-3-deoxy-D-glycero-D-galacto-nononic acid (KDN). |
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 |
Hgene | ETNK1 | chr12:22812088 | chr12:22208083 | ENST00000266517 | + | 3 | 8 | 73_83 | 274 | 453 | Compositional bias | Note=Poly-Val |
Tgene | >CMAS | chr12:22812088 | chr12:22208083 | ENST00000229329 | + | 0 | 8 | 200_206 | 86 | 435 | Motif | Note=BC2 motif |
Tgene | >CMAS | chr12:22812088 | chr12:22208083 | ENST00000229329 | + | 0 | 8 | 269_276 | 86 | 435 | Motif | Note=BC3 motif |
- 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 |
Hgene | >ETNK1 | chr12:22812088 | chr12:22208083 | ENST00000335148 | + | 1 | 3 | 73_83 | -8 | 259 | Compositional bias | Note=Poly-Val |
Tgene | CMAS | chr12:22812088 | chr12:22208083 | ENST00000229329 | + | 0 | 8 | 15_31 | 86 | 435 | Motif | Note=BC1 motif |
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FusionGeneSequence for ETNK1_CMAS |
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_ETNK1_ENST00000266517_chr12_22812088_+_CMAS_ENST00000229329_chr12_22208083_+_623aa MLCGRPRSSSDNRNFLRERAGLSSAAVQTRIGNSAASRRSPAARPPVPAPPALPRGRPGTEGSTSLSAPAVLVVAVAVVVVVVSAVAWAM ANYIHVPPGSPEVPKLNVTVQDQEEHRCREGALSLLQHLRPHWDPQEVTLQLFTDGITNKLIGCYVGNTMEDVVLVRIYGNKTELLVDRD EEVKSFRVLQAHGCAPQLYCTFNNGLCYEFIQGEALDPKHVCNPAIFRLIARQLAKIHAIHAHNGWIPKSNLWLKMGKYFSLIPTGFADE DINKSVWVSTDHDEIENVAKQFGAQVHRRSSEVSKDSSTSLDAIIEFLNYHNEVDIVGNIQATSPCLHPTDLQKVAEMIREEGYDSVFSV VRRHQFRWSEIQKGVREVTEPLNLNPAKRPRRQDWDGELYENGSFYFAKRHLIEMGYLQGGKMAYYEMRAEHSVDIDVDIDWPIAEQRVL RYGYFGKEKLKEIKLLVCNIDGCLTNGHIYVSGDQKEIISYDVKDAIGISLLKKSGIEVRLISERACSKQTLSSLKLDCKMEVSVSDKLA |
* Fusion transcript sequences (only coding sequence (CDS) region). |
>In-frame_ETNK1_ENST00000266517_chr12_22812088_+_CMAS_ENST00000229329_chr12_22208083_+_1869nt ATGCTCTGCGGCCGCCCGCGGTCCAGCTCCGACAACAGGAATTTTCTCCGAGAGCGGGCCGGGCTCAGTTCAGCTGCTGTCCAGACCCGG ATCGGCAACAGTGCCGCCTCCAGACGTTCTCCTGCCGCTCGCCCGCCCGTCCCAGCGCCCCCAGCCCTCCCGCGAGGGCGCCCCGGGACG GAAGGATCCACCAGTCTGTCGGCGCCCGCCGTTCTCGTGGTCGCCGTCGCCGTCGTCGTGGTGGTAGTCTCCGCCGTCGCCTGGGCCATG GCCAATTACATCCACGTCCCTCCCGGCTCCCCGGAGGTGCCCAAGCTGAACGTCACCGTTCAGGATCAGGAGGAGCATCGCTGCCGGGAG GGGGCCCTGAGCCTCCTGCAACACCTGCGGCCTCACTGGGACCCCCAGGAGGTGACCCTGCAGCTCTTCACAGATGGAATCACAAATAAA CTTATTGGCTGTTACGTGGGAAACACCATGGAGGATGTAGTCCTGGTGAGAATTTATGGCAATAAGACTGAGTTATTAGTCGATCGAGAT GAGGAAGTAAAGAGTTTTCGAGTGTTGCAGGCTCATGGGTGTGCACCACAACTCTACTGTACCTTCAATAATGGACTATGCTATGAATTT ATACAAGGAGAAGCACTGGATCCAAAGCATGTCTGCAACCCAGCCATTTTCAGGCTAATAGCTCGTCAGCTTGCTAAAATCCATGCTATT CATGCACACAATGGCTGGATCCCCAAATCTAATCTTTGGCTAAAGATGGGAAAGTATTTCTCTCTCATTCCCACAGGATTTGCAGATGAA GACATTAATAAAAGTGTATGGGTTTCGACAGACCATGATGAAATTGAGAATGTGGCCAAACAATTTGGTGCACAAGTTCATCGAAGAAGT TCTGAAGTTTCAAAAGACAGCTCTACCTCACTAGATGCCATCATAGAATTTCTTAATTATCATAATGAGGTTGACATTGTAGGAAATATT CAAGCTACTTCTCCATGTTTACATCCTACTGATCTTCAAAAAGTTGCAGAAATGATTCGAGAAGAAGGATATGATTCTGTTTTCTCTGTT GTGAGACGCCATCAGTTTCGATGGAGTGAAATTCAGAAAGGAGTTCGTGAAGTGACCGAACCTCTGAATTTAAATCCAGCTAAACGGCCT CGTCGACAAGACTGGGATGGAGAATTATATGAAAATGGCTCATTTTATTTTGCTAAAAGACATTTGATAGAGATGGGTTACTTGCAGGGT GGAAAAATGGCATACTACGAAATGCGAGCTGAACATAGTGTGGATATAGATGTGGATATTGATTGGCCTATTGCAGAGCAAAGAGTATTA AGATATGGCTATTTTGGCAAAGAGAAGCTTAAGGAAATAAAACTTTTGGTTTGCAATATTGATGGATGTCTCACCAATGGCCACATTTAT GTATCAGGAGACCAAAAAGAAATAATATCTTATGATGTAAAAGATGCTATTGGGATAAGTTTATTAAAGAAAAGTGGTATTGAGGTGAGG CTAATCTCAGAAAGGGCCTGTTCAAAGCAGACGCTGTCTTCTTTAAAACTGGATTGCAAAATGGAAGTCAGTGTATCAGACAAGCTAGCA GTTGTAGATGAATGGAGAAAAGAAATGGGCCTGTGCTGGAAAGAAGTGGCATATCTTGGAAATGAAGTGTCTGATGAAGAGTGCTTGAAG AGAGTGGGCCTAAGTGGCGCTCCTGCTGATGCCTGTTCTACTGCCCAGAAGGCTGTTGGATACATTTGCAAATGTAATGGTGGCCGTGGT |
* Fusion transcript sequences (Full-length transcript). |
>In-frame_ETNK1_ENST00000266517_chr12_22812088_+_CMAS_ENST00000229329_chr12_22208083_+_2310nt GTGACCGGAGGCGAGAAACCCCGCCTCGGCACCCTGACGCAGCGCAGGACCCGCCCCGCGCGTGACGCCAGCGTCAGGCCAGCCCCGGCA TGCTCTGCGGCCGCCCGCGGTCCAGCTCCGACAACAGGAATTTTCTCCGAGAGCGGGCCGGGCTCAGTTCAGCTGCTGTCCAGACCCGGA TCGGCAACAGTGCCGCCTCCAGACGTTCTCCTGCCGCTCGCCCGCCCGTCCCAGCGCCCCCAGCCCTCCCGCGAGGGCGCCCCGGGACGG AAGGATCCACCAGTCTGTCGGCGCCCGCCGTTCTCGTGGTCGCCGTCGCCGTCGTCGTGGTGGTAGTCTCCGCCGTCGCCTGGGCCATGG CCAATTACATCCACGTCCCTCCCGGCTCCCCGGAGGTGCCCAAGCTGAACGTCACCGTTCAGGATCAGGAGGAGCATCGCTGCCGGGAGG GGGCCCTGAGCCTCCTGCAACACCTGCGGCCTCACTGGGACCCCCAGGAGGTGACCCTGCAGCTCTTCACAGATGGAATCACAAATAAAC TTATTGGCTGTTACGTGGGAAACACCATGGAGGATGTAGTCCTGGTGAGAATTTATGGCAATAAGACTGAGTTATTAGTCGATCGAGATG AGGAAGTAAAGAGTTTTCGAGTGTTGCAGGCTCATGGGTGTGCACCACAACTCTACTGTACCTTCAATAATGGACTATGCTATGAATTTA TACAAGGAGAAGCACTGGATCCAAAGCATGTCTGCAACCCAGCCATTTTCAGGCTAATAGCTCGTCAGCTTGCTAAAATCCATGCTATTC ATGCACACAATGGCTGGATCCCCAAATCTAATCTTTGGCTAAAGATGGGAAAGTATTTCTCTCTCATTCCCACAGGATTTGCAGATGAAG ACATTAATAAAAGTGTATGGGTTTCGACAGACCATGATGAAATTGAGAATGTGGCCAAACAATTTGGTGCACAAGTTCATCGAAGAAGTT CTGAAGTTTCAAAAGACAGCTCTACCTCACTAGATGCCATCATAGAATTTCTTAATTATCATAATGAGGTTGACATTGTAGGAAATATTC AAGCTACTTCTCCATGTTTACATCCTACTGATCTTCAAAAAGTTGCAGAAATGATTCGAGAAGAAGGATATGATTCTGTTTTCTCTGTTG TGAGACGCCATCAGTTTCGATGGAGTGAAATTCAGAAAGGAGTTCGTGAAGTGACCGAACCTCTGAATTTAAATCCAGCTAAACGGCCTC GTCGACAAGACTGGGATGGAGAATTATATGAAAATGGCTCATTTTATTTTGCTAAAAGACATTTGATAGAGATGGGTTACTTGCAGGGTG GAAAAATGGCATACTACGAAATGCGAGCTGAACATAGTGTGGATATAGATGTGGATATTGATTGGCCTATTGCAGAGCAAAGAGTATTAA GATATGGCTATTTTGGCAAAGAGAAGCTTAAGGAAATAAAACTTTTGGTTTGCAATATTGATGGATGTCTCACCAATGGCCACATTTATG TATCAGGAGACCAAAAAGAAATAATATCTTATGATGTAAAAGATGCTATTGGGATAAGTTTATTAAAGAAAAGTGGTATTGAGGTGAGGC TAATCTCAGAAAGGGCCTGTTCAAAGCAGACGCTGTCTTCTTTAAAACTGGATTGCAAAATGGAAGTCAGTGTATCAGACAAGCTAGCAG TTGTAGATGAATGGAGAAAAGAAATGGGCCTGTGCTGGAAAGAAGTGGCATATCTTGGAAATGAAGTGTCTGATGAAGAGTGCTTGAAGA GAGTGGGCCTAAGTGGCGCTCCTGCTGATGCCTGTTCTACTGCCCAGAAGGCTGTTGGATACATTTGCAAATGTAATGGTGGCCGTGGTG CCATCCGAGAATTTGCAGAGCACATTTGCCTACTAATGGAAAAGGTTAATAATTCATGCCAAAAATAGAAATTAGCGTAATATTGAGAAA AAAATGATACAGCCTTCTTCAGCCAGTTTGCTTTTATTTTTGATTAAGTAAATTCCATGTTGTAATGTTACAGAGAGTGTGATTTGGTTT GTGATATATATATATTGTGCTCTACTTTTCTCTTTACGCAAGATAATTATTTAGAGACTGATTACAGTCTTTCTCAGATTTTTAGTAAAT GCAAGTAAGAACATCATCAAAGTTCACTTTGTATTGTACCCTGTAAAACTGTGTGTTTGTGTGCTTTCAAAGATGTTGGGATTTTATTTA |
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FusionGenePPI for ETNK1_CMAS |
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 |
ETNK1 | UBQLN1, ACAD10, PNLIP, NASP, WDTC1, LRRN2, CCRN4L, SLC18A1, NAPRT, EVA1C | CMAS | APP, FBXO6, BRCA1, FGL1, LIMS1, LUC7L, DBNL, COG3, FIG4, NAA10, DDB1, NAA15, HIST1H2BG, HIST1H3A, RC3H1, CHCHD10, FAM98A |
- 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 ETNK1_CMAS |
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 ETNK1_CMAS |
Diseases associated with fusion partners. (DisGeNet 4.0) |
Partner | Gene | Disease ID | Disease name | # pubmeds | Source |
Hgene | ETNK1 | C3495559 | Juvenile arthritis | 1 | CTD_human |