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Fusion gene ID: 2971 |
FusionGeneSummary for ASH1L_RIT1 |
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Fusion gene information | Fusion gene name: ASH1L_RIT1 | Fusion gene ID: 2971 | Hgene | Tgene | Gene symbol | ASH1L | RIT1 | Gene ID | 55870 | 64919 |
Gene name | ASH1 like histone lysine methyltransferase | B cell CLL/lymphoma 11B | |
Synonyms | ASH1|ASH1L1|KMT2H|MRD52 | ATL1|ATL1-alpha|ATL1-beta|ATL1-delta|ATL1-gamma|CTIP-2|CTIP2|IMD49|RIT1|ZNF856B|hRIT1-alpha | |
Cytomap | 1q22 | 14q32.2 | |
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 | B-cell lymphoma/leukemia 11BB-cell CLL/lymphoma 11B (zinc finger protein)B-cell CLL/lymphoma 11B/T-cell receptor delta constant region fusion proteinB-cell lymphoma/leukaemia 11BBCL-11BBCL11B/TRDC fusionCOUP-TF-interacting protein 2hRit1radiation- | |
Modification date | 20180519 | 20180523 | |
UniProtAcc | Q9NR48 | Q92963 | |
Ensembl transtripts involved in fusion gene | ENST00000368346, ENST00000392403, ENST00000548830, | ENST00000368323, ENST00000539040, ENST00000368322, | |
Fusion gene scores | * DoF score | 27 X 14 X 13=4914 | 2 X 1 X 3=6 |
# 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(3/6*10)=2.32192809488736 | |
Context | PubMed: ASH1L [Title/Abstract] AND RIT1 [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 | SARC | TCGA-IW-A3M5-01A | ASH1L | chr1 | 155307880 | - | RIT1 | chr1 | 155874595 | - |
* 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 | ENST00000368323 | ASH1L | chr1 | 155307880 | - | RIT1 | chr1 | 155874595 | - |
Frame-shift | ENST00000368346 | ENST00000539040 | ASH1L | chr1 | 155307880 | - | RIT1 | chr1 | 155874595 | - |
Frame-shift | ENST00000368346 | ENST00000368322 | ASH1L | chr1 | 155307880 | - | RIT1 | chr1 | 155874595 | - |
Frame-shift | ENST00000392403 | ENST00000368323 | ASH1L | chr1 | 155307880 | - | RIT1 | chr1 | 155874595 | - |
Frame-shift | ENST00000392403 | ENST00000539040 | ASH1L | chr1 | 155307880 | - | RIT1 | chr1 | 155874595 | - |
Frame-shift | ENST00000392403 | ENST00000368322 | ASH1L | chr1 | 155307880 | - | RIT1 | chr1 | 155874595 | - |
intron-3CDS | ENST00000548830 | ENST00000368323 | ASH1L | chr1 | 155307880 | - | RIT1 | chr1 | 155874595 | - |
intron-3CDS | ENST00000548830 | ENST00000539040 | ASH1L | chr1 | 155307880 | - | RIT1 | chr1 | 155874595 | - |
intron-3CDS | ENST00000548830 | ENST00000368322 | ASH1L | chr1 | 155307880 | - | RIT1 | chr1 | 155874595 | - |
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FusionProtFeatures for ASH1L_RIT1 |
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Hgene | Tgene |
ASH1L | RIT1 |
Histone methyltransferase specifically methylating 'Lys-36' of histone H3 (H3K36me). {ECO:0000269|PubMed:21239497}. | Plays a crucial role in coupling NGF stimulation to theactivation of both EPHB2 and MAPK14 signaling pathways and in NGF-dependent neuronal differentiation. Involved in ELK1transactivation through the Ras-MAPK signaling cascade thatmediates a wide variety of cellular functions, including cellproliferation, survival, and differentiation.{ECO:0000269|PubMed:15632082, ECO:0000269|PubMed:23791108}. |
![]() * 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_RIT1 |
![]() (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_RIT1 |
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Hgene | Hgene's interactors | Tgene | Tgene's interactors |
ASH1L | HIST1H3A, H3F3A, SMAD7, THAP7, MORF4L1, PARD6A, SIKE1, MORF4L2, NXF2, CDX1 | RIT1 | RALGDS, PTN, LRIF1, MLLT4, RLF, VHL, NF2, KLHL12, ASB4, SRPK2, LZTR1, CAMKV, RIT2, MAD2L1BP |
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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_RIT1 |
![]() (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_RIT1 |
![]() (DisGeNet 4.0) |
Partner | Gene | Disease ID | Disease name | # pubmeds | Source |
Hgene | ASH1L | C0023903 | Liver neoplasms | 1 | CTD_human |
Tgene | RIT1 | C3809233 | NOONAN SYNDROME 8 | 2 | UNIPROT |
Tgene | RIT1 | C0023893 | Liver Cirrhosis, Experimental | 1 | CTD_human |