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Fusion gene ID: 12498 |
FusionGeneSummary for FAM118A_SETDB1 |
 Fusion gene summary |
| Fusion gene information | Fusion gene name: FAM118A_SETDB1 | Fusion gene ID: 12498 | Hgene | Tgene | Gene symbol | FAM118A | SETDB1 | Gene ID | 55007 | 9869 |
| Gene name | family with sequence similarity 118 member A | SET domain bifurcated 1 | |
| Synonyms | C22orf8 | ESET|H3-K9-HMTase4|KG1T|KMT1E|TDRD21 | |
| Cytomap | 22q13.31 | 1q21.3 | |
| Type of gene | protein-coding | protein-coding | |
| Description | protein FAM118AbK268H5.C22.4 | histone-lysine N-methyltransferase SETDB1ERG-associated protein with SET domainERG-associated protein with a SET domain, ESETH3-K9-HMTase 4histone H3-K9 methyltransferase 4histone-lysine N-methyltransferase, H3lysine-9 specific 4lysine N-methyltrans | |
| Modification date | 20180522 | 20180519 | |
| UniProtAcc | Q9NWS6 | Q15047 | |
| Ensembl transtripts involved in fusion gene | ENST00000491671, ENST00000216214, ENST00000441876, ENST00000405673, ENST00000405548, | ENST00000271640, ENST00000368962, ENST00000368969, ENST00000368963, ENST00000459773, | |
| Fusion gene scores | * DoF score | 7 X 4 X 6=168 | 2 X 2 X 1=4 |
| # samples | 7 | 2 | |
| ** MAII score | log2(7/168*10)=-1.26303440583379 possibly effective Gene in Pan-Cancer Fusion Genes (peGinPCFGs). DoF>8 and MAII<0 | log2(2/4*10)=2.32192809488736 | |
| Context | PubMed: FAM118A [Title/Abstract] AND SETDB1 [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 |
| 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 | BG953460 | FAM118A | chr22 | 45712656 | - | SETDB1 | chr1 | 150936054 | - |
| * 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 | ENST00000491671 | ENST00000271640 | FAM118A | chr22 | 45712656 | - | SETDB1 | chr1 | 150936054 | - |
| intron-intron | ENST00000491671 | ENST00000368962 | FAM118A | chr22 | 45712656 | - | SETDB1 | chr1 | 150936054 | - |
| intron-intron | ENST00000491671 | ENST00000368969 | FAM118A | chr22 | 45712656 | - | SETDB1 | chr1 | 150936054 | - |
| intron-intron | ENST00000491671 | ENST00000368963 | FAM118A | chr22 | 45712656 | - | SETDB1 | chr1 | 150936054 | - |
| intron-intron | ENST00000491671 | ENST00000459773 | FAM118A | chr22 | 45712656 | - | SETDB1 | chr1 | 150936054 | - |
| intron-3CDS | ENST00000216214 | ENST00000271640 | FAM118A | chr22 | 45712656 | - | SETDB1 | chr1 | 150936054 | - |
| intron-intron | ENST00000216214 | ENST00000368962 | FAM118A | chr22 | 45712656 | - | SETDB1 | chr1 | 150936054 | - |
| intron-intron | ENST00000216214 | ENST00000368969 | FAM118A | chr22 | 45712656 | - | SETDB1 | chr1 | 150936054 | - |
| intron-intron | ENST00000216214 | ENST00000368963 | FAM118A | chr22 | 45712656 | - | SETDB1 | chr1 | 150936054 | - |
| intron-intron | ENST00000216214 | ENST00000459773 | FAM118A | chr22 | 45712656 | - | SETDB1 | chr1 | 150936054 | - |
| intron-3CDS | ENST00000441876 | ENST00000271640 | FAM118A | chr22 | 45712656 | - | SETDB1 | chr1 | 150936054 | - |
| intron-intron | ENST00000441876 | ENST00000368962 | FAM118A | chr22 | 45712656 | - | SETDB1 | chr1 | 150936054 | - |
| intron-intron | ENST00000441876 | ENST00000368969 | FAM118A | chr22 | 45712656 | - | SETDB1 | chr1 | 150936054 | - |
| intron-intron | ENST00000441876 | ENST00000368963 | FAM118A | chr22 | 45712656 | - | SETDB1 | chr1 | 150936054 | - |
| intron-intron | ENST00000441876 | ENST00000459773 | FAM118A | chr22 | 45712656 | - | SETDB1 | chr1 | 150936054 | - |
| intron-3CDS | ENST00000405673 | ENST00000271640 | FAM118A | chr22 | 45712656 | - | SETDB1 | chr1 | 150936054 | - |
| intron-intron | ENST00000405673 | ENST00000368962 | FAM118A | chr22 | 45712656 | - | SETDB1 | chr1 | 150936054 | - |
| intron-intron | ENST00000405673 | ENST00000368969 | FAM118A | chr22 | 45712656 | - | SETDB1 | chr1 | 150936054 | - |
| intron-intron | ENST00000405673 | ENST00000368963 | FAM118A | chr22 | 45712656 | - | SETDB1 | chr1 | 150936054 | - |
| intron-intron | ENST00000405673 | ENST00000459773 | FAM118A | chr22 | 45712656 | - | SETDB1 | chr1 | 150936054 | - |
| intron-3CDS | ENST00000405548 | ENST00000271640 | FAM118A | chr22 | 45712656 | - | SETDB1 | chr1 | 150936054 | - |
| intron-intron | ENST00000405548 | ENST00000368962 | FAM118A | chr22 | 45712656 | - | SETDB1 | chr1 | 150936054 | - |
| intron-intron | ENST00000405548 | ENST00000368969 | FAM118A | chr22 | 45712656 | - | SETDB1 | chr1 | 150936054 | - |
| intron-intron | ENST00000405548 | ENST00000368963 | FAM118A | chr22 | 45712656 | - | SETDB1 | chr1 | 150936054 | - |
| intron-intron | ENST00000405548 | ENST00000459773 | FAM118A | chr22 | 45712656 | - | SETDB1 | chr1 | 150936054 | - |
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FusionProtFeatures for FAM118A_SETDB1 |
| Main function of each fusion partner protein. (from UniProt) |
| Hgene | Tgene |
| FAM118A | SETDB1 |
| Histone methyltransferase that specificallytrimethylates 'Lys-9' of histone H3. H3 'Lys-9' trimethylationrepresents a specific tag for epigenetic transcriptionalrepression by recruiting HP1 (CBX1, CBX3 and/or CBX5) proteins tomethylated histones. Mainly functions in euchromatin regions,thereby playing a central role in the silencing of euchromaticgenes. H3 'Lys-9' trimethylation is coordinated with DNAmethylation. Probably forms a complex with MBD1 and ATF7IP thatrepresses transcription and couples DNA methylation and histone'Lys-9' trimethylation. Its activity is dependent on MBD1 and isheritably maintained through DNA replication by being recruited byCAF-1. SETDB1 is targeted to histone H3 by TRIM28/TIF1B, a factorrecruited by KRAB zinc-finger proteins. Probably forms acorepressor complex required for activated KRAS-mediated promoterhypermethylation and transcriptional silencing of tumor suppressorgenes (TSGs) or other tumor-related genes in colorectal cancer(CRC) cells (PubMed:24623306). Also required to maintain atranscriptionally repressive state of genes in undifferentiatedembryonic stem cells (ESCs) (PubMed:24623306). Associates atpromoter regions of tumor suppressor genes (TSGs) leading to theirgene silencing (PubMed:24623306). The SETDB1-TRIM28-ZNF274 complexmay play a role in recruiting ATRX to the 3'-exons of zinc-fingercoding genes with atypical chromatin signatures to establish ormaintain/protect H3K9me3 at these transcriptionally active regions(PubMed:27029610). {ECO:0000269|PubMed:12869583,ECO:0000269|PubMed:14536086, ECO:0000269|PubMed:15327775,ECO:0000269|PubMed:17952062, ECO:0000269|PubMed:24623306,ECO:0000269|PubMed:27029610}. |
| 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 FAM118A_SETDB1 |
| 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 FAM118A_SETDB1 |
| 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 FAM118A_SETDB1 |
| 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 FAM118A_SETDB1 |
| Diseases associated with fusion partners. (DisGeNet 4.0) |
| Partner | Gene | Disease ID | Disease name | # pubmeds | Source |
| Tgene | SETDB1 | C0025202 | melanoma | 1 | CTD_human |
| Tgene | SETDB1 | C0036341 | Schizophrenia | 1 | PSYGENET |
| Tgene | SETDB1 | C0178417 | Anhedonia | 1 | PSYGENET |
| Tgene | SETDB1 | C0345967 | Malignant mesothelioma | 1 | CTD_human |
Copyright 2018-Present -The University of Texas Health Science Center at Houston (UTHealth)
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