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Fusion gene ID: 16469 |
FusionGeneSummary for HMGCS1_NTMT1 |
 Fusion gene summary |
| Fusion gene information | Fusion gene name: HMGCS1_NTMT1 | Fusion gene ID: 16469 | Hgene | Tgene | Gene symbol | HMGCS1 | NTMT1 | Gene ID | 3157 | 28989 |
| Gene name | 3-hydroxy-3-methylglutaryl-CoA synthase 1 | N-terminal Xaa-Pro-Lys N-methyltransferase 1 | |
| Synonyms | HMGCS | AD-003|C9orf32|HOMT1A|METTL11A|NRMT|NRMT1|NTM1A | |
| Cytomap | 5p12 | 9q34.11 | |
| Type of gene | protein-coding | protein-coding | |
| Description | hydroxymethylglutaryl-CoA synthase, cytoplasmic3-hydroxy-3-methylglutaryl coenzyme A (HMG-CoA) synthase3-hydroxy-3-methylglutaryl-CoA synthase 1 (soluble)3-hydroxy-3-methylglutaryl-Coenzyme A synthase 1 (soluble) | N-terminal Xaa-Pro-Lys N-methyltransferase 1N-terminal RCC1 methyltransferaseX-Pro-Lys N-terminal protein methyltransferase 1Aalpha N-terminal protein methyltransferase 1Amethyltransferase-like protein 11A | |
| Modification date | 20180523 | 20180523 | |
| UniProtAcc | Q01581 | Q9BV86 | |
| Ensembl transtripts involved in fusion gene | ENST00000325110, ENST00000433297, | ENST00000372486, ENST00000372483, ENST00000459968, ENST00000482347, ENST00000372481, ENST00000372480, ENST00000486391, | |
| Fusion gene scores | * DoF score | 5 X 6 X 4=120 | 2 X 2 X 2=8 |
| # samples | 6 | 2 | |
| ** MAII score | log2(6/120*10)=-1 possibly effective Gene in Pan-Cancer Fusion Genes (peGinPCFGs). DoF>8 and MAII<0 | log2(2/8*10)=1.32192809488736 | |
| Context | PubMed: HMGCS1 [Title/Abstract] AND NTMT1 [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 | NTMT1 | GO:0016571 | histone methylation | 26543159 |
| Tgene | NTMT1 | GO:0018013 | N-terminal peptidyl-glycine methylation | 26543159 |
| Tgene | NTMT1 | GO:0018016 | N-terminal peptidyl-proline dimethylation | 20481588|20668449 |
| Tgene | NTMT1 | GO:0035572 | N-terminal peptidyl-serine dimethylation | 20668449 |
| Tgene | NTMT1 | GO:0035573 | N-terminal peptidyl-serine trimethylation | 20668449 |
| 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 | AF130074 | HMGCS1 | chr5 | 43302564 | + | NTMT1 | chr9 | 132395217 | + |
| * 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-intron | ENST00000325110 | ENST00000372486 | HMGCS1 | chr5 | 43302564 | + | NTMT1 | chr9 | 132395217 | + |
| intron-intron | ENST00000325110 | ENST00000372483 | HMGCS1 | chr5 | 43302564 | + | NTMT1 | chr9 | 132395217 | + |
| intron-intron | ENST00000325110 | ENST00000459968 | HMGCS1 | chr5 | 43302564 | + | NTMT1 | chr9 | 132395217 | + |
| intron-intron | ENST00000325110 | ENST00000482347 | HMGCS1 | chr5 | 43302564 | + | NTMT1 | chr9 | 132395217 | + |
| intron-intron | ENST00000325110 | ENST00000372481 | HMGCS1 | chr5 | 43302564 | + | NTMT1 | chr9 | 132395217 | + |
| intron-intron | ENST00000325110 | ENST00000372480 | HMGCS1 | chr5 | 43302564 | + | NTMT1 | chr9 | 132395217 | + |
| intron-intron | ENST00000325110 | ENST00000486391 | HMGCS1 | chr5 | 43302564 | + | NTMT1 | chr9 | 132395217 | + |
| intron-intron | ENST00000433297 | ENST00000372486 | HMGCS1 | chr5 | 43302564 | + | NTMT1 | chr9 | 132395217 | + |
| intron-intron | ENST00000433297 | ENST00000372483 | HMGCS1 | chr5 | 43302564 | + | NTMT1 | chr9 | 132395217 | + |
| intron-intron | ENST00000433297 | ENST00000459968 | HMGCS1 | chr5 | 43302564 | + | NTMT1 | chr9 | 132395217 | + |
| intron-intron | ENST00000433297 | ENST00000482347 | HMGCS1 | chr5 | 43302564 | + | NTMT1 | chr9 | 132395217 | + |
| intron-intron | ENST00000433297 | ENST00000372481 | HMGCS1 | chr5 | 43302564 | + | NTMT1 | chr9 | 132395217 | + |
| intron-intron | ENST00000433297 | ENST00000372480 | HMGCS1 | chr5 | 43302564 | + | NTMT1 | chr9 | 132395217 | + |
| intron-intron | ENST00000433297 | ENST00000486391 | HMGCS1 | chr5 | 43302564 | + | NTMT1 | chr9 | 132395217 | + |
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FusionProtFeatures for HMGCS1_NTMT1 |
| Main function of each fusion partner protein. (from UniProt) |
| Hgene | Tgene |
| HMGCS1 | NTMT1 |
| This enzyme condenses acetyl-CoA with acetoacetyl-CoA toform HMG-CoA, which is the substrate for HMG-CoA reductase. | Distributive alpha-N-methyltransferase that methylatesthe N-terminus of target proteins containing the N-terminal motif[Ala/Gly/Pro/Ser]-Pro-Lys when the initiator Met is cleaved.Specifically catalyzes mono-, di- or tri-methylation of theexposed alpha-amino group of the Ala, Gly or Ser residue in the[Ala/Gly/Ser]-Pro-Lys motif and mono- or di-methylation of Pro inthe Pro-Pro-Lys motif. Some of the substrates may be primed byMETTL11B-mediated monomethylation (PubMed:24090352). Catalyzes thetrimethylation of the N-terminal Gly in CENPA (after removal ofMet-1). Responsible for the N-terminal methylation of KLHL31,MYL2, MYL3, RB1, RCC1, RPL23A and SET. Required during mitosis fornormal bipolar spindle formation and chromosome segregation viaits action on RCC1. {ECO:0000269|PubMed:20481588,ECO:0000269|PubMed:20668449, ECO:0000269|PubMed:24090352,ECO:0000269|PubMed:26543159}. |
| 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 HMGCS1_NTMT1 |
| 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 HMGCS1_NTMT1 |
| 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 HMGCS1_NTMT1 |
| 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 HMGCS1_NTMT1 |
| 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)
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