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mutLBSgeneDB |
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| Gene summary for ASH2L |
 Gene summary |
| Basic gene Info. | Gene symbol | ASH2L |
| Gene name | ash2 (absent, small, or homeotic)-like (Drosophila) | |
| Synonyms | ASH2|ASH2L1|ASH2L2|Bre2 | |
| Cytomap | UCSC genome browser: 8p11.2 | |
| Type of gene | protein-coding | |
| RefGenes | NM_001105214.2, NM_001261832.1,NM_001282272.1,NM_004674.4, | |
| Description | ASH2-like proteinset1/Ash2 histone methyltransferase complex subunit ASH2 | |
| Modification date | 20141207 | |
| dbXrefs | MIM : 604782 | |
| HGNC : HGNC | ||
| Ensembl : ENSG00000129691 | ||
| HPRD : 05309 | ||
| Vega : OTTHUMG00000164016 | ||
| Protein | UniProt: Q9UBL3 go to UniProt's Cross Reference DB Table | |
| Expression | CleanEX: HS_ASH2L | |
| BioGPS: 9070 | ||
| Pathway | NCI Pathway Interaction Database: ASH2L | |
| KEGG: ASH2L | ||
| REACTOME: ASH2L | ||
| Pathway Commons: ASH2L | ||
| Context | iHOP: ASH2L | |
| ligand binding site mutation search in PubMed: ASH2L | ||
| UCL Cancer Institute: ASH2L | ||
| Assigned class in mutLBSgeneDB | C: This gene just belongs to mutLBSgenes. | |
| Gene ontology having evidence of Inferred from Direct Assay (IDA) from Entrez |
| GO ID | GO Term | PubMed ID | GO:0006974 | cellular response to DNA damage stimulus | 17500065 | GO:0043627 | response to estrogen | 16603732 | GO:0051568 | histone H3-K4 methylation | 17355966 |
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| Ligand binding site mutations for ASH2L |
| Lollipop-style diagram of mutations at LBS in amino-acid sequence. We represented ligand binding site mutations only. (You can see big image via clicking.)  : non-synonymous mutation on LBS, Circle size denotes number of samples. |
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| Cancer type specific mutLBS sorted by frequency |
| LBS | AAchange of nsSNV | Cancer type | # samples | R437 | G439D | COAD | 1 | F468,Q470 | H469N | LUSC | 1 | C147 | H146N | UCEC | 1 | Y569 | L568M | UCEC | 1 |
| cf) Cancer type abbreviation. BLCA: Bladder urothelial carcinoma, BRCA: Breast invasive carcinoma, CESC: Cervical squamous cell carcinoma and endocervical adenocarcinoma, COAD: Colon adenocarcinoma, GBM: Glioblastoma multiforme, LGG: Brain lower grade glioma, HNSC: Head and neck squamous cell carcinoma, KICH: Kidney chromophobe, KIRC: Kidney renal clear cell carcinoma, KIRP: Kidney renal papillary cell carcinoma, LAML: Acute myeloid leukemia, LUAD: Lung adenocarcinoma, LUSC: Lung squamous cell carcinoma, OV: Ovarian serous cystadenocarcinoma, PAAD: Pancreatic adenocarcinoma, PRAD: Prostate adenocarcinoma, SKCM: Skin cutaneous melanoma, STAD: Stomach adenocarcinoma, THCA: Thyroid carcinoma, UCEC: Uterine corpus endometrial carcinoma. |
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| Protein structure related information for ASH2L |
| Relative protein structure stability change (ΔΔE) using Mupro 1.1 Mupro score denotes assessment of the effect of mutations on thermodynamic stability. (ΔΔE<0: mutation decreases stability, ΔΔE>0: mutation increases stability) |
 : nsSNV at non-LBS : nsSNV at LBS |
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| nsSNVs sorted by the relative stability change of protein structure by each mutation Blue: mutations of positive stability change. and red : the most recurrent mutation for this gene. |
| LBS | AAchange of nsSNV | Relative stability change | Y569 | L568M | -1.3728894 | C147 | H146N | -1.1890828 | Q470 | H469N | -1.0248039 | F468 | H469N | -1.0248039 | R437 | G439D | -0.64560771 |
| (MuPro1.1: Jianlin Cheng et al., Prediction of Protein Stability Changes for Single-Site Mutations Using Support Vector Machines, PROTEINS: Structure, Function, and Bioinformatics. 2006, 62:1125-1132) |
| Structure image for ASH2L from PDB |
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| Differential gene expression and gene-gene network for ASH2L |
| Differential gene expression between mutated and non-mutated LBS samples in all 16 major cancer types |
| Differential co-expressed gene network based on protein-protein interaction data (CePIN) |
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| Phenotype information for ASH2L |
| Gene level disease information (DisGeNet) |
| Disease ID | Disease name | # PubMed | Association type |
| Mutation level pathogenic information (ClinVar annotation) |
| Allele ID | AA change | Clinical significance | Origin | Phenotype IDs |
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| Pharmacological information for ASH2L |
| Gene expression profile of anticancer drug treated cell-lines (CCLE) Heatmap showing the correlation between gene expression and drug response across all the cell-lines. We chose the top 20 among 138 drugs.We used Pearson's correlation coefficient. |
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| Drug information targeting mutLBSgene (Approved drugs only) |
| Drug status | DrugBank ID | Name | Type | Drug structure |
| Gene-centered ligand-gene interaction network |
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| Ligands binding to mutated ligand binding site of ASH2L go to BioLip |
| Ligand ID | Ligand short name | Ligand long name | PDB ID | PDB name | mutLBS | ZN | ZINC(2+) | 3s32 | A | C147 |
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| Conservation information for LBS of ASH2L |
| Multiple alignments for Q9UBL3 in multiple species |
| LBS | AA sequence | # species | Species | A435 | MPPDTAARLGW | 2 | Homo sapiens, Mus musculus | A435 | GDDGAHVRIGV | 1 | Schizosaccharomyces pombe (strain 972 / ATCC 24843) | A435 | MPDGAATRLGW | 1 | Drosophila melanogaster | C117 | EVELQCGICTK | 2 | Homo sapiens, Mus musculus | C117 | FPDLQCSVCLN | 1 | Schizosaccharomyces pombe (strain 972 / ATCC 24843) | C117 | IVELLCATCSR | 1 | Drosophila melanogaster | C120 | LQCGICTKWFT | 2 | Homo sapiens, Mus musculus | C120 | LQCSVCLNMFH | 1 | Schizosaccharomyces pombe (strain 972 / ATCC 24843) | C120 | LLCATCSRWVH | 1 | Drosophila melanogaster | C147 | NYSFHCNVCHH | 2 | Homo sapiens, Mus musculus | C147 | NYQFVCKHCTE | 1 | Schizosaccharomyces pombe (strain 972 / ATCC 24843) | C147 | NYVFVCKNCSA | 1 | Drosophila melanogaster | C150 | FHCNVCHHSGN | 2 | Homo sapiens, Mus musculus | C150 | FVCKHCTEDGF | 1 | Schizosaccharomyces pombe (strain 972 / ATCC 24843) | C150 | FVCKNCSASGL | 1 | Drosophila melanogaster | F468 | KKGTKFHQSIG | 2 | Homo sapiens, Mus musculus | F468 | LGGQKVHMSRP | 1 | Schizosaccharomyces pombe (strain 972 / ATCC 24843) | F468 | RKGTKFTESHG | 1 | Drosophila melanogaster | G406 | VVGEKGYSMVR | 2 | Homo sapiens, Mus musculus | G406 | ATVEKGFRMAR | 1 | Schizosaccharomyces pombe (strain 972 / ATCC 24843) | G406 | VTGERGYCMVR | 1 | Drosophila melanogaster | G473 | FHQSIGKHYSS | 2 | Homo sapiens, Mus musculus | G473 | VHMSRPRNFMD | 1 | Schizosaccharomyces pombe (strain 972 / ATCC 24843) | G473 | FTESHGKHYSD | 1 | Drosophila melanogaster | I472 | KFHQSIGKHYS | 2 | Homo sapiens, Mus musculus | I472 | KVHMSRPRNFM | 1 | Schizosaccharomyces pombe (strain 972 / ATCC 24843) | I472 | KFTESHGKHYS | 1 | Drosophila melanogaster | K463 | YSWRSKKGTKF | 2 | Homo sapiens, Mus musculus | K463 | YGLRDLGGQKV | 1 | Schizosaccharomyces pombe (strain 972 / ATCC 24843) | K463 | YSWRSRKGTKF | 1 | Drosophila melanogaster | P450 | GNLQAPLGYDK | 3 | Homo sapiens, Drosophila melanogaster, Mus musculus | P450 | APLDAPVGYDA | 1 | Schizosaccharomyces pombe (strain 972 / ATCC 24843) | Q470 | GTKFHQSIGKH | 2 | Homo sapiens, Mus musculus | Q470 | GQKVHMSRPRN | 1 | Schizosaccharomyces pombe (strain 972 / ATCC 24843) | Q470 | GTKFTESHGKH | 1 | Drosophila melanogaster | R437 | PDTAARLGWSQ | 2 | Homo sapiens, Mus musculus | R437 | DGAHVRIGVSR | 1 | Schizosaccharomyces pombe (strain 972 / ATCC 24843) | R437 | DGAATRLGWGR | 1 | Drosophila melanogaster | R461 | FSYSWRSKKGT | 2 | Homo sapiens, Mus musculus | R461 | YSYGLRDLGGQ | 1 | Schizosaccharomyces pombe (strain 972 / ATCC 24843) | R461 | FGYSWRSRKGT | 1 | Drosophila melanogaster | S471 | TKFHQSIGKHY | 2 | Homo sapiens, Mus musculus | S471 | QKVHMSRPRNF | 1 | Schizosaccharomyces pombe (strain 972 / ATCC 24843) | S471 | TKFTESHGKHY | 1 | Drosophila melanogaster | Y407 | VGEKGYSMVRA | 2 | Homo sapiens, Mus musculus | Y407 | TVEKGFRMARS | 1 | Schizosaccharomyces pombe (strain 972 / ATCC 24843) | Y407 | TGERGYCMVRA | 1 | Drosophila melanogaster | Y453 | QAPLGYDKFSY | 2 | Homo sapiens, Mus musculus | Y453 | DAPVGYDAYSY | 1 | Schizosaccharomyces pombe (strain 972 / ATCC 24843) | Y453 | QAPLGYDKFGY | 1 | Drosophila melanogaster | Y569 | PAISLYKSCTV | 2 | Homo sapiens, Mus musculus | Y569 | PSISMYGGGIA | 1 | Schizosaccharomyces pombe (strain 972 / ATCC 24843) | Y569 | PAISIHKSATV | 1 | Drosophila melanogaster |
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