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Fusion gene ID: 2978 |
FusionGeneSummary for ASH1L_UBQLN4 |
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Fusion gene information | Fusion gene name: ASH1L_UBQLN4 | Fusion gene ID: 2978 | Hgene | Tgene | Gene symbol | ASH1L | UBQLN4 | Gene ID | 55870 | 56893 |
Gene name | ASH1 like histone lysine methyltransferase | ubiquilin 4 | |
Synonyms | ASH1|ASH1L1|KMT2H|MRD52 | A1U|A1Up|C1orf6|CIP75|UBIN | |
Cytomap | 1q22 | 1q22 | |
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 | ubiquilin-4ataxin-1 interacting ubiquitin-like proteinataxin-1 ubiquitin-like interacting proteinataxin-1 ubiquitin-like-interacting protein A1Uconnexin43-interacting protein of 75 kDa | |
Modification date | 20180519 | 20180519 | |
UniProtAcc | Q9NR48 | Q9NRR5 | |
Ensembl transtripts involved in fusion gene | ENST00000368346, ENST00000392403, ENST00000548830, | ENST00000368309, ENST00000472638, | |
Fusion gene scores | * DoF score | 27 X 14 X 13=4914 | 5 X 4 X 4=80 |
# samples | 30 | 5 | |
** MAII score | log2(30/4914*10)=-4.03386345186628 possibly effective Gene in Pan-Cancer Fusion Genes (peGinPCFGs). DoF>8 and MAII<0 | log2(5/80*10)=-0.678071905112638 possibly effective Gene in Pan-Cancer Fusion Genes (peGinPCFGs). DoF>8 and MAII<0 | |
Context | PubMed: ASH1L [Title/Abstract] AND UBQLN4 [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) |
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Partner | Gene | GO ID | GO term | PubMed ID |
Hgene | ASH1L | GO:0097676 | histone H3-K36 dimethylation | 26002201 |
![]() (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 | BLCA | TCGA-XF-AAMY-01A | ASH1L | chr1 | 155531944 | - | UBQLN4 | chr1 | 156021648 | - |
* LD: Li Ding group's fusion gene list RV: Roel Verhaak group's fusion gene list ChiTaRs fusion database |
![]() * 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-3CDS | ENST00000368346 | ENST00000368309 | ASH1L | chr1 | 155531944 | - | UBQLN4 | chr1 | 156021648 | - |
5UTR-5UTR | ENST00000368346 | ENST00000472638 | ASH1L | chr1 | 155531944 | - | UBQLN4 | chr1 | 156021648 | - |
5UTR-3CDS | ENST00000392403 | ENST00000368309 | ASH1L | chr1 | 155531944 | - | UBQLN4 | chr1 | 156021648 | - |
5UTR-5UTR | ENST00000392403 | ENST00000472638 | ASH1L | chr1 | 155531944 | - | UBQLN4 | chr1 | 156021648 | - |
5UTR-3CDS | ENST00000548830 | ENST00000368309 | ASH1L | chr1 | 155531944 | - | UBQLN4 | chr1 | 156021648 | - |
5UTR-5UTR | ENST00000548830 | ENST00000472638 | ASH1L | chr1 | 155531944 | - | UBQLN4 | chr1 | 156021648 | - |
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FusionProtFeatures for ASH1L_UBQLN4 |
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Hgene | Tgene |
ASH1L | UBQLN4 |
Histone methyltransferase specifically methylating 'Lys-36' of histone H3 (H3K36me). {ECO:0000269|PubMed:21239497}. | Plays a role in the regulation of protein degradationvia the ubiquitin-proteasome system (UPS). Mediates theproteasomal targeting of misfolded or accumulated proteins fordegradation by binding (via UBA domain) to their polyubiquitinchains and by interacting (via ubiquitin-like domain) with thesubunits of the proteasome (Ref. 6). Plays a role in theregulation of the proteasomal degradation of non-ubiquitinatedGJA1 (By similarity). Acts as an adapter protein that recruitsUBQLN1 to the autophagy machinery. Mediates the association ofUBQLN1 with autophagosomes and the autophagy-related protein LC3(MAP1LC3A/B/C) and may assist in the maturation of autophagosomesto autolysosomes by mediating autophagosome-lysosome fusion(PubMed:23459205). {ECO:0000250|UniProtKB:Q99NB8,ECO:0000269|PubMed:15280365, ECO:0000269|PubMed:23459205}. |
![]() * 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_UBQLN4 |
![]() (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_UBQLN4 |
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Hgene | Hgene's interactors | Tgene | Tgene's interactors |
ASH1L | HIST1H3A, H3F3A, SMAD7, THAP7, MORF4L1, PARD6A, SIKE1, MORF4L2, NXF2, CDX1 | UBQLN4 | SERPINH1, ATXN1, NAE1, SCG5, ZBTB22, SMARCB1, RXRA, EEF1A1, UNC119, PTN, HSPA5, PRL, FKBP7, CTSB, SPP1, HERPUD1, PSMD4, RNF185, GJA1, DNAJB11, TNFRSF14, PSMD2, ADPGK, AGR2, AREG, BAG6, IGLC1, EAPP, UBR7, C19orf10, C1QTNF1, RUNX1T1, CCL21, CD99, CDSN, COL8A1, CPSF6, CSTF2, CSTF2T, DAZAP2, DKK3, DTX2, EDN1, EFEMP2, ELF5, FGFBP1, FKBP2, RSRC2, KLHL26, CCDC134, ERP27, CCDC33, FZD7, GABRD, GKAP1, GPX7, HAVCR1, HK2, PLA2G16, IGFBP6, IGHM, KLHL42, ITPRIPL1, ZG16B, MDK, C1orf94, MLLT6, NME3, NPHP1, NPPA, CYB5R1, NXF1, PDIA5, PDLIM7, PELI2, PIN1, PIP4K2B, BPIFA1, PPIB, PPIC, SRGN, QSOX1, RAI2, RIC8A, RNPS1, RPN1, SCMH1, SEMG1, SERPINE1, SERPINI2, MIEF2, SPAG8, SPINT1, STAM2, HSPA13, TFF1, PMEPA1, TRIM32, UBQLN1, USMG5, VIP, LAT2, ZG16, ZNF205, UBQLN4, MIF4GD, ADAM33, ARL4C, ATPIF1, CEND1, ERP29, CACNA1G, CCDC14, COPB1, CRIPT, DMPK, EPDR1, FA2H, SUPT20H, PRPF40A, GDI1, HGS, IMMT, ANKRD13D, CCDC107, C11orf49, MOAP1, CCDC136, NOMO1, NOMO3, NOTCH2NL, OAT, PBXIP1, PCDH17, PCDH8, PNMA1, PICK1, PTPRN, PTPRN2, RBM10, ROBO2, SCG2, SRSF2, SCAF1, STMN1, TGFB1I1, TNRC6B, TRAF2, TRIB2, UBQLN2, UROS, WAC, YWHAQ, ZDHHC3, ZFPM2, RAD23A, IMPDH2, ZFYVE19, ZPR1, UBE2B, AHCYL1, UBXN1, UBE2A, VPS4B, USP34, TYMS, STAM, TXN, PRDX3, VPS26A, UBE2C, TTC9C, CD2BP2, MAP1LC3A, SMAD9, RNF11, SMAD3, ORC5, SHFM1, UBC, ASNS, RAD23B, GJA5, GJC1, GJB1, KDELR1, SLC17A2, MTNR1B |
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Partner | Gene | Hbp | Tbp | ENST | Strand | BPexon | TotalExon | Protein feature loci | *BPloci | TotalLen | Still interaction with |
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Partner | Gene | Hbp | Tbp | ENST | Strand | BPexon | TotalExon | Protein feature loci | *BPloci | TotalLen | Interaction lost with |
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Partner | Gene | Hbp | Tbp | ENST | Strand | BPexon | TotalExon | Protein feature loci | *BPloci | TotalLen | Interaction lost with |
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RelatedDrugs for ASH1L_UBQLN4 |
![]() (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_UBQLN4 |
![]() (DisGeNet 4.0) |
Partner | Gene | Disease ID | Disease name | # pubmeds | Source |
Hgene | ASH1L | C0023903 | Liver neoplasms | 1 | CTD_human |