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Fusion gene ID: 2969 |
FusionGeneSummary for ASH1L_RC3H1 |
 Fusion gene summary |
| Fusion gene information | Fusion gene name: ASH1L_RC3H1 | Fusion gene ID: 2969 | Hgene | Tgene | Gene symbol | ASH1L | RC3H1 | Gene ID | 55870 | 149041 |
| Gene name | ASH1 like histone lysine methyltransferase | ring finger and CCCH-type domains 1 | |
| Synonyms | ASH1|ASH1L1|KMT2H|MRD52 | RNF198|ROQUIN | |
| Cytomap | 1q22 | 1q25.1 | |
| Type of gene | protein-coding | protein-coding | |
| Description | histone-lysine N-methyltransferase ASH1LASH1-like proteinabsent small and homeotic disks protein 1 homologash1 (absent, small, or homeotic)-likelysine N-methyltransferase 2Hprobable histone-lysine N-methyltransferase ASH1L | roquin-1RING finger and C3H zinc finger protein 1RING finger and CCCH-type zinc finger domain-containing protein 1RING finger protein 198probable E3 ubiquitin-protein ligase Roquin | |
| Modification date | 20180519 | 20180523 | |
| UniProtAcc | Q9NR48 | Q5TC82 | |
| Ensembl transtripts involved in fusion gene | ENST00000368346, ENST00000392403, ENST00000548830, | ENST00000258349, ENST00000367696, ENST00000367694, | |
| Fusion gene scores | * DoF score | 27 X 14 X 13=4914 | 2 X 2 X 2=8 |
| # samples | 30 | 2 | |
| ** MAII score | log2(30/4914*10)=-4.03386345186628 possibly effective Gene in Pan-Cancer Fusion Genes (peGinPCFGs). DoF>8 and MAII<0 | log2(2/8*10)=1.32192809488736 | |
| Context | PubMed: ASH1L [Title/Abstract] AND RC3H1 [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 | ASH1L | GO:0097676 | histone H3-K36 dimethylation | 26002201 |
| Tgene | RC3H1 | GO:0000209 | protein polyubiquitination | 26489670 |
| Tgene | RC3H1 | GO:0000956 | nuclear-transcribed mRNA catabolic process | 25026078 |
| 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-DX-AB2S-01A | ASH1L | chr1 | 155531944 | - | RC3H1 | chr1 | 173962273 | - |
| * 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 |
| 5UTR-intron | ENST00000368346 | ENST00000258349 | ASH1L | chr1 | 155531944 | - | RC3H1 | chr1 | 173962273 | - |
| 5UTR-5UTR | ENST00000368346 | ENST00000367696 | ASH1L | chr1 | 155531944 | - | RC3H1 | chr1 | 173962273 | - |
| 5UTR-intron | ENST00000368346 | ENST00000367694 | ASH1L | chr1 | 155531944 | - | RC3H1 | chr1 | 173962273 | - |
| 5UTR-intron | ENST00000392403 | ENST00000258349 | ASH1L | chr1 | 155531944 | - | RC3H1 | chr1 | 173962273 | - |
| 5UTR-5UTR | ENST00000392403 | ENST00000367696 | ASH1L | chr1 | 155531944 | - | RC3H1 | chr1 | 173962273 | - |
| 5UTR-intron | ENST00000392403 | ENST00000367694 | ASH1L | chr1 | 155531944 | - | RC3H1 | chr1 | 173962273 | - |
| 5UTR-intron | ENST00000548830 | ENST00000258349 | ASH1L | chr1 | 155531944 | - | RC3H1 | chr1 | 173962273 | - |
| 5UTR-5UTR | ENST00000548830 | ENST00000367696 | ASH1L | chr1 | 155531944 | - | RC3H1 | chr1 | 173962273 | - |
| 5UTR-intron | ENST00000548830 | ENST00000367694 | ASH1L | chr1 | 155531944 | - | RC3H1 | chr1 | 173962273 | - |
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FusionProtFeatures for ASH1L_RC3H1 |
| Main function of each fusion partner protein. (from UniProt) |
| Hgene | Tgene |
| ASH1L | RC3H1 |
| Histone methyltransferase specifically methylating 'Lys-36' of histone H3 (H3K36me). {ECO:0000269|PubMed:21239497}. | Post-transcriptional repressor of mRNAs containing aconserved stem loop motif, called constitutive decay element(CDE), which is often located in the 3'-UTR, as in HMGXB3, ICOS,IER3, NFKBID, NFKBIZ, PPP1R10, TNF, TNFRSF4 and in many more mRNAs(PubMed:25026078). Cleaves translationally inactive mRNAsharboring a stem-loop (SL), often located in their 3'-UTRs, duringthe early phase of inflammation in a helicase UPF1-independentmanner (By similarity). Binds to CDE and promotes mRNAdeadenylation and degradation. This process does not involvemiRNAs (By similarity). In follicular helper T (Tfh) cells,represses of ICOS and TNFRSF4 expression, thus preventingspontaneous Tfh cell differentiation, germinal center B-celldifferentiation in the absence of immunization and autoimmunity(By similarity). In resting or LPS-stimulated macrophages,controls inflammation by suppressing TNF expression (Bysimilarity). Also recognizes CDE in its own mRNA and in that ofparalogous RC3H2, possibly leading to feedback loop regulation (Bysimilarity). Recognizes and binds mRNAs containing an hexaloopstem-loop motif, called alternative decay element (ADE) (Bysimilarity). Able to interact with double-stranded RNA (dsRNA)(PubMed:25504471, PubMed:25026078). miRNA-binding protein thatregulates microRNA homeostasis. Enhances DICER-mediated processingof pre-MIR146a but reduces mature MIR146a levels through anincrease of 3' end uridylation. Both inhibits ICOS mRNA expressionand they may act together to exert the suppression(PubMed:25697406). Acts as a ubiquitin E3 ligase. Pairs with E2enzymes UBE2A, UBE2B, UBE2D2, UBE2F, UBE2G1, UBE2G2 and UBE2L3 andproduces polyubiquitin chains (PubMed:26489670). Show thestrongest activity when paired with UBE2N:UBE2V1 or UBE2N:UBE2V2E2 complexes and generate both short and long polyubiquitin chains(PubMed:26489670). {ECO:0000250|UniProtKB:Q4VGL6,ECO:0000269|PubMed:25026078, ECO:0000269|PubMed:25504471,ECO:0000269|PubMed:25697406, ECO:0000269|PubMed:26489670}. |
| 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 ASH1L_RC3H1 |
| 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 ASH1L_RC3H1 |
| 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 |
| ASH1L | HIST1H3A, H3F3A, SMAD7, THAP7, MORF4L1, PARD6A, SIKE1, MORF4L2, NXF2, CDX1 | RC3H1 | CDA, DDX6, DDX1, ZC3H7B, WWOX, TNF, UBE2B, UBE2D2, UBE2G2, UBE2A, UBE2L3, UBE2F, UBE2G1, UBE2N, UBE2V1, UBE2V2, ACTG1, AKAP8L, ALB, ATP5A1, ATP5C1, C11orf84, CNOT11, CAD, CCDC124, CCT6A, CD2BP2, CIRBP, CKM, CLASP2, CMAS, CNOT1, CNOT10, CNOT2, CNOT3, CNOT6L, CNOT7, CNOT8, YBX3, DCD, DDX17, DDX46, E2F7, EDF1, EEF1D, EIF3I, EIF4B, EIF4G1, ERH, FARSA, FAU, FBL, FUS, GCN1L1, HIST1H1C, HNRNPA2B1, HNRNPK, HNRNPR, HNRNPU, HSPA5, HSPA6, HSPD1, IRS4, CAMSAP3, CCAR2, KIF11, KRT2, KRT5, KRT9, LARP1, LUC7L, LUC7L2, MAP7, MATR3, MCM7, MGA, MRPL14, MRPL24, NCAPH, NCL, NONO, NPM1, NUFIP2, OGT, OTUD4, PABPN1, PARP1, PEG10, PHGDH, PPIA, PPIB, PRDX4, PRPF31, PRPF6, PRSS3, PSMC3, PSMD11, PUM1, RAN, RAVER1, RBM3, RC3H2, RCC2, RIOK1, RNF219, RPL11, RPL12, RPL13, RPL18, RPL22, RPL23, RPL23A, RPL24, RPL27A, RPL28, RPL29, RPL30, RPL38, RPL4, RPL7, RPL8, RPL9, RPN1, RPS10, RPS11, RPS13, RPS14, RPS15A, RPS16, RPS17, RPS19, RPS2, RPS20, RPS24, RPS25, RPS3, RPS3A, RPS5, RPS6, RPS7, RPS8, RQCD1, SEC16A, SERBP1, SF3B2, SFPQ, SLC25A11, SLC25A3, SLC25A5, SMC2, SNRNP200, SNRPD2, SNRPD3, SRRM2, STAU1, STK38, STK38L, TNKS1BP1, TPM2, TRIM21, TRIM28, TYRP1, UBAP2L, VARS, VIM, WIZ, XRCC6, ZC3H4, ZBTB14, ZNF326, ZRANB2, 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 |
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RelatedDrugs for ASH1L_RC3H1 |
| 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 ASH1L_RC3H1 |
| Diseases associated with fusion partners. (DisGeNet 4.0) |
| Partner | Gene | Disease ID | Disease name | # pubmeds | Source |
| Hgene | ASH1L | C0023903 | Liver neoplasms | 1 | CTD_human |
Copyright 2018-Present -The University of Texas Health Science Center at Houston (UTHealth)
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