![]() |
||||||
|
![]() | |
![]() | |
![]() | |
![]() | |
![]() | |
![]() |
Fusion gene ID: 2968 |
FusionGeneSummary for ASH1L_PKLR |
![]() |
Fusion gene information | Fusion gene name: ASH1L_PKLR | Fusion gene ID: 2968 | Hgene | Tgene | Gene symbol | ASH1L | PKLR | Gene ID | 55870 | 5313 |
Gene name | ASH1 like histone lysine methyltransferase | pyruvate kinase L/R | |
Synonyms | ASH1|ASH1L1|KMT2H|MRD52 | PK1|PKL|PKR|PKRL|RPK | |
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 | pyruvate kinase PKLRR-type/L-type pyruvate kinasepyruvate kinase 1pyruvate kinase isozyme R/Lpyruvate kinase isozymes L/Rpyruvate kinase isozymes R/Lpyruvate kinase type Lpyruvate kinase, liver and RBCpyruvate kinase, liver and blood cellred cell | |
Modification date | 20180519 | 20180523 | |
UniProtAcc | Q9NR48 | P30613 | |
Ensembl transtripts involved in fusion gene | ENST00000368346, ENST00000392403, ENST00000548830, | ENST00000392414, ENST00000342741, | |
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 PKLR [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) |
![]() |
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 | LD | BLCA | TCGA-K4-A5RH-01A | ASH1L | chr1 | 155531944 | - | PKLR | chr1 | 155271207 | - |
* 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-intron | ENST00000368346 | ENST00000392414 | ASH1L | chr1 | 155531944 | - | PKLR | chr1 | 155271207 | - |
5UTR-5UTR | ENST00000368346 | ENST00000342741 | ASH1L | chr1 | 155531944 | - | PKLR | chr1 | 155271207 | - |
5UTR-intron | ENST00000392403 | ENST00000392414 | ASH1L | chr1 | 155531944 | - | PKLR | chr1 | 155271207 | - |
5UTR-5UTR | ENST00000392403 | ENST00000342741 | ASH1L | chr1 | 155531944 | - | PKLR | chr1 | 155271207 | - |
5UTR-intron | ENST00000548830 | ENST00000392414 | ASH1L | chr1 | 155531944 | - | PKLR | chr1 | 155271207 | - |
5UTR-5UTR | ENST00000548830 | ENST00000342741 | ASH1L | chr1 | 155531944 | - | PKLR | chr1 | 155271207 | - |
Top |
FusionProtFeatures for ASH1L_PKLR |
![]() |
Hgene | Tgene |
ASH1L | PKLR |
Histone methyltransferase specifically methylating 'Lys-36' of histone H3 (H3K36me). {ECO:0000269|PubMed:21239497}. | Plays a key role in glycolysis. {ECO:0000250}. |
![]() * 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 |
Top |
FusionGeneSequence for ASH1L_PKLR |
![]() (nt: nucleotides, aa: amino acids) |
* Fusion amino acid sequences. |
* Fusion transcript sequences (only coding sequence (CDS) region). |
* Fusion transcript sequences (Full-length transcript). |
Top |
FusionGenePPI for ASH1L_PKLR |
![]() |
![]() |
Hgene | Hgene's interactors | Tgene | Tgene's interactors |
ASH1L | HIST1H3A, H3F3A, SMAD7, THAP7, MORF4L1, PARD6A, SIKE1, MORF4L2, NXF2, CDX1 | PKLR | KIF23, ARHGEF6, PXN, PAK1, OTUD5, USP3, USPL1, PCNA, CLEC4G, WWOX, NT5DC1, EEF1A2, PAICS, MRAS, CYP4B1 |
![]() |
Partner | Gene | Hbp | Tbp | ENST | Strand | BPexon | TotalExon | Protein feature loci | *BPloci | TotalLen | Still interaction with |
![]() |
Partner | Gene | Hbp | Tbp | ENST | Strand | BPexon | TotalExon | Protein feature loci | *BPloci | TotalLen | Interaction lost with |
![]() |
Partner | Gene | Hbp | Tbp | ENST | Strand | BPexon | TotalExon | Protein feature loci | *BPloci | TotalLen | Interaction lost with |
Top |
RelatedDrugs for ASH1L_PKLR |
![]() (DrugBank Version 5.1.0 2018-04-02) |
Partner | Gene | UniProtAcc | DrugBank ID | Drug name | Drug activity | Drug type | Drug status |
Top |
RelatedDiseases for ASH1L_PKLR |
![]() (DisGeNet 4.0) |
Partner | Gene | Disease ID | Disease name | # pubmeds | Source |
Hgene | ASH1L | C0023903 | Liver neoplasms | 1 | CTD_human |
Tgene | PKLR | C0340968 | Deficiency of pyruvate kinase | 16 | CTD_human;ORPHANET;UNIPROT |
Tgene | PKLR | C0011853 | Diabetes Mellitus, Experimental | 1 | CTD_human |
Tgene | PKLR | C0023893 | Liver Cirrhosis, Experimental | 1 | CTD_human |
Tgene | PKLR | C1863224 | Adenosine Triphosphate, Elevated, Of Erythrocytes | 1 | CTD_human;UNIPROT |