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Fusion gene ID: 2965 |
FusionGeneSummary for ASH1L_INSRR |
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Fusion gene information | Fusion gene name: ASH1L_INSRR | Fusion gene ID: 2965 | Hgene | Tgene | Gene symbol | ASH1L | INSRR | Gene ID | 55870 | 3645 |
Gene name | ASH1 like histone lysine methyltransferase | insulin receptor related receptor | |
Synonyms | ASH1|ASH1L1|KMT2H|MRD52 | IRR | |
Cytomap | 1q22 | 1q23.1 | |
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 | insulin receptor-related proteinIR-related receptor | |
Modification date | 20180519 | 20180523 | |
UniProtAcc | Q9NR48 | P14616 | |
Ensembl transtripts involved in fusion gene | ENST00000368346, ENST00000392403, ENST00000548830, | ENST00000368195, | |
Fusion gene scores | * DoF score | 27 X 14 X 13=4914 | 3 X 2 X 2=12 |
# samples | 30 | 3 | |
** MAII score | log2(30/4914*10)=-4.03386345186628 possibly effective Gene in Pan-Cancer Fusion Genes (peGinPCFGs). DoF>8 and MAII<0 | log2(3/12*10)=1.32192809488736 effective Gene in Pan-Cancer Fusion Genes (eGinPCFGs). DoF>8 and MAII>0 | |
Context | PubMed: ASH1L [Title/Abstract] AND INSRR [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 |
Tgene | INSRR | GO:0031532 | actin cytoskeleton reorganization | 21641549 |
Tgene | INSRR | GO:0071469 | cellular response to alkaline pH | 21641549 |
![]() (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 | LUAD | TCGA-91-A4BC-01A | ASH1L | chr1 | 155490891 | - | INSRR | chr1 | 156824095 | - |
* 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 |
Frame-shift | ENST00000368346 | ENST00000368195 | ASH1L | chr1 | 155490891 | - | INSRR | chr1 | 156824095 | - |
Frame-shift | ENST00000392403 | ENST00000368195 | ASH1L | chr1 | 155490891 | - | INSRR | chr1 | 156824095 | - |
Frame-shift | ENST00000548830 | ENST00000368195 | ASH1L | chr1 | 155490891 | - | INSRR | chr1 | 156824095 | - |
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FusionProtFeatures for ASH1L_INSRR |
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Hgene | Tgene |
ASH1L | INSRR |
Histone methyltransferase specifically methylating 'Lys-36' of histone H3 (H3K36me). {ECO:0000269|PubMed:21239497}. | Receptor with tyrosine-protein kinase activity.Functions as a pH sensing receptor which is activated by increasedextracellular pH. Activates an intracellular signaling pathwaythat involves IRS1 and AKT1/PKB. {ECO:0000269|PubMed:21641549}. |
![]() * 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_INSRR |
![]() (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_INSRR |
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Hgene | Hgene's interactors | Tgene | Tgene's interactors |
ASH1L | HIST1H3A, H3F3A, SMAD7, THAP7, MORF4L1, PARD6A, SIKE1, MORF4L2, NXF2, CDX1 | INSRR | INSR, HSP90AA1, CTDSP2, STYX |
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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_INSRR |
![]() (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_INSRR |
![]() (DisGeNet 4.0) |
Partner | Gene | Disease ID | Disease name | # pubmeds | Source |
Hgene | ASH1L | C0023903 | Liver neoplasms | 1 | CTD_human |
Tgene | INSRR | C0010606 | Adenoid Cystic Carcinoma | 1 | CTD_human |