Aliases for ASH1L Gene
Aliases for ASH1L Gene
External Ids for ASH1L Gene
- HGNC: 19088
- Entrez Gene: 55870
- Ensembl: ENSG00000116539
- OMIM: 607999
- UniProtKB: Q9NR48
Previous GeneCards Identifiers for ASH1L Gene
- GC01M152084
- GC01M152523
- GC01M152119
- GC01M153571
- GC01M155305
- GC01M126666
Summaries for ASH1L Gene
-
This gene encodes a member of the trithorax group of transcriptional activators. The protein contains four AT hooks, a SET domain, a PHD-finger motif, and a bromodomain. It is localized to many small speckles in the nucleus, and also to cell-cell tight junctions. [provided by RefSeq, Jul 2008]
GeneCards Summary for ASH1L Gene
ASH1L (ASH1 Like Histone Lysine Methyltransferase) is a Protein Coding gene. Diseases associated with ASH1L include Intellectual Disability And/Or Autism Spectrum Disorder, Ash1l-Related and Dental Pulp Disease. Among its related pathways are Lysine degradation and PKMTs methylate histone lysines. GO annotations related to this gene include chromatin binding and histone methyltransferase activity (H3-K4 specific). An important paralog of this gene is SETD2.
UniProtKB/Swiss-Prot for ASH1L Gene
-
Histone methyltransferase specifically methylating Lys-36 of histone H3 (H3K36me).
No data available for CIViC summary , Tocris Summary , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for ASH1L Gene
Genomics for ASH1L Gene
Regulatory Elements for ASH1L Gene
Enhancers for ASH1L Gene
- Elite enhancer and/or Elite enhancer-gene association
Download GeneHancer data dump
Enhancers around ASH1L on UCSC Golden Path with GeneCards custom track
Regulatory Element Products
Genomic Location for ASH1L Gene
- Chromosome:
- 1
- Start:
- 155,335,261 bp from pter
- End:
- 155,562,850 bp from pter
- Size:
- 227,590 bases
- Orientation:
- Minus strand
Genomic View for ASH1L Gene
Genes around ASH1L on UCSC Golden Path with GeneCards custom track
- Cytogenetic band:
-
- 1q22 by Ensembl
- 1q22 by Entrez Gene
- 1q22 by HGNC
ASH1L Gene in genomic location: bands according to
Ensembl, locations according to GeneLoc
(and/or Entrez Gene and/or Ensembl if different)
Genomic Neighborhood
• Exon Structure
• Gene Density
RefSeq DNA sequence for ASH1L Gene
Proteins for ASH1L Gene
-
Protein details for ASH1L Gene (UniProtKB/Swiss-Prot)
- Protein Symbol:
- Q9NR48-ASH1L_HUMAN
- Recommended name:
- Histone-lysine N-methyltransferase ASH1L
- Protein Accession:
- Q9NR48
- Q59GP1
- Q5T714
- Q5T715
- Q9P2C7
Protein attributes for ASH1L Gene
- Size:
- 2969 amino acids
- Molecular mass:
- 332790 Da
- Quaternary structure:
- No Data Available
- SequenceCaution:
-
- Sequence=BAA92658.1; Type=Erroneous initiation; Note=Translation N-terminally shortened.; Evidence={ECO:0000305};
Three dimensional structures from OCA and Proteopedia for ASH1L Gene
Protein Expression for ASH1L Gene
Selected DME Specific Peptides for ASH1L Gene
- Q9NR48:
-
- NHSCDPN
- QKWSVNG
Post-translational modifications for ASH1L Gene
Other Protein References for ASH1L Gene
Antibody Products
- EMD Millipore Complete listing of Mono and Polychlonal Antibodies for ASH1L
- Novus Biologicals Antibodies for ASH1L
-
Abcam antibodies for ASH1L
- antibodies-online Antibodies for ASH1L: See all 36
- GeneTex ASH1L antibody for ASH1L
-
Santa Cruz Biotechnology (SCBT) Antibodies for ASH1L
Protein Products
- Search Origene for Purified Proteins, MassSpec and Protein Over-expression Lysates for ASH1L
- Origene Custom Protein Services for ASH1L
- Novus Biologicals proteins for ASH1L
- antibodies-online Proteins for ASH1L: See all 3
- Search antibodies-online for peptides
- Search GeneTex for Proteins for ASH1L
-
Abcam proteins for ASH1L
Assay Products
- antibodies-online Kits for ASH1L: See all 21
Domains & Families for ASH1L Gene
Gene Families for ASH1L Gene
Protein Domains for ASH1L Gene
Suggested Antigen Peptide Sequences for ASH1L Gene
- GenScript: Design optimal peptide antigens:
Graphical View of Domain Structure for InterPro Entry
Q9NR48UniProtKB/Swiss-Prot:
ASH1L_HUMAN :- Belongs to the class V-like SAM-binding methyltransferase superfamily. Histone-lysine methyltransferase family. SET2 subfamily.
- Family:
-
- Belongs to the class V-like SAM-binding methyltransferase superfamily. Histone-lysine methyltransferase family. SET2 subfamily.
Function for ASH1L Gene
Molecular function for ASH1L Gene
- UniProtKB/Swiss-Prot CatalyticActivity:
- S-adenosyl-L-methionine + L-lysine-[histone] = S-adenosyl-L-homocysteine + N(6)-methyl-L-lysine-[histone].
- UniProtKB/Swiss-Prot Function:
- Histone methyltransferase specifically methylating Lys-36 of histone H3 (H3K36me).
Enzyme Numbers (IUBMB) for ASH1L Gene
| GO ID | Qualified GO term | Evidence | PubMed IDs |
|---|---|---|---|
| GO:0003677 | DNA binding | IEA | -- |
| GO:0003682 | chromatin binding | IEA | -- |
| GO:0008168 | methyltransferase activity | IEA | -- |
| GO:0008270 | zinc ion binding | IEA | -- |
| GO:0016740 | transferase activity | IEA | -- |
Phenotypes for ASH1L Gene
- MGI mutant phenotypes for ASH1L:
-
inferred from 3 alleles
- mortality/aging
- behavior/neurological phenotype
- growth/size/body region phenotype
- immune system phenotype
- homeostasis/metabolism phenotype
- cardiovascular system phenotype
- respiratory system phenotype
- reproductive system phenotype
- endocrine/exocrine gland phenotype
- vision/eye phenotype
- integument phenotype
- skeleton phenotype
- embryo phenotype
- hematopoietic system phenotype
- renal/urinary system phenotype
- adipose tissue phenotype
- GenomeRNAi human phenotypes for ASH1L:
Animal Models for ASH1L Gene
- MGI Knock Outs for ASH1L:
-
- Ash1l tm2b(EUCOMM)Hmgu
Animal Model Products
- Taconic Biosciences: Generate A Custom CRISPR Mouse Model For Your Study
- Cyagen custom Knockout/knockin (KOKI) mouse models for ASH1L
-
-
ViGene Biosciences lentiviral particle packaged cDNA for ASH1L gene
-
ViGene Biosciences ready-to-package AAV shRNAs for ASH1L gene
- Search ViGene Biosciences for ASH1L
CRISPR Products
-
OriGene CRISPR knockouts for ASH1L
-
Santa Cruz Biotechnology (SCBT) CRISPR for ASH1L
- GenScript: Design CRISPR guide RNA sequences for ASH1L
miRNA for ASH1L Gene
- miRTarBase miRNAs that target ASH1L
-
- hsa-mir-103a-3p (MIRT027138)
- hsa-mir-16-5p (MIRT031796)
- hsa-mir-877-3p (MIRT037090)
- hsa-mir-625-5p (MIRT039596)
- hsa-mir-193b-3p (MIRT041462)
- hsa-mir-361-5p (MIRT044085)
- hsa-mir-185-5p (MIRT045370)
- hsa-mir-17-5p (MIRT050880)
- hsa-mir-1277-5p (MIRT111511)
- hsa-mir-5011-5p (MIRT111513)
- hsa-mir-214-3p (MIRT181245)
- hsa-mir-761 (MIRT181247)
- hsa-mir-3619-5p (MIRT181252)
- hsa-mir-548t-3p (MIRT181258)
- hsa-mir-548aa (MIRT181261)
- hsa-mir-548ap-3p (MIRT181263)
- hsa-mir-514b-3p (MIRT456296)
- hsa-mir-514a-3p (MIRT456297)
- hsa-mir-6864-5p (MIRT456298)
- hsa-mir-4696 (MIRT456299)
- hsa-mir-3179 (MIRT456300)
- hsa-mir-154-5p (MIRT456301)
- hsa-mir-302f (MIRT456302)
- hsa-mir-5692a (MIRT456303)
- hsa-mir-6083 (MIRT549263)
- hsa-mir-374b-3p (MIRT549264)
- hsa-mir-4524b-5p (MIRT549265)
- hsa-mir-4524a-5p (MIRT549266)
- hsa-mir-3140-3p (MIRT549267)
- hsa-mir-4729 (MIRT549268)
- hsa-mir-7157-5p (MIRT549269)
- hsa-mir-4310 (MIRT549270)
- hsa-mir-656-3p (MIRT549271)
- hsa-mir-646 (MIRT549272)
- hsa-mir-651-3p (MIRT549273)
- hsa-mir-503-5p (MIRT549274)
- hsa-mir-15b-5p (MIRT549275)
- hsa-mir-424-5p (MIRT549276)
- hsa-mir-195-5p (MIRT549277)
- hsa-mir-15a-5p (MIRT549278)
- hsa-mir-497-5p (MIRT549279)
- hsa-mir-6838-5p (MIRT549280)
- hsa-mir-107 (MIRT549281)
- hsa-mir-190a-3p (MIRT549282)
- hsa-mir-4789-5p (MIRT549283)
- hsa-mir-3941 (MIRT549284)
- hsa-mir-4789-3p (MIRT549285)
- hsa-mir-603 (MIRT549286)
- hsa-mir-362-3p (MIRT549287)
- hsa-mir-329-3p (MIRT549288)
- hsa-mir-8485 (MIRT549289)
- hsa-mir-718 (MIRT559414)
- hsa-mir-8061 (MIRT559415)
- hsa-mir-4760-5p (MIRT559416)
- hsa-mir-138-2-3p (MIRT559417)
- hsa-mir-574-5p (MIRT559418)
- hsa-mir-6867-5p (MIRT559419)
- hsa-mir-223-5p (MIRT559420)
- hsa-mir-6833-3p (MIRT660455)
- hsa-mir-4768-5p (MIRT660456)
- hsa-mir-627-3p (MIRT660457)
- hsa-mir-548x-3p (MIRT660458)
- hsa-mir-548j-3p (MIRT660459)
- hsa-mir-548aq-3p (MIRT660460)
- hsa-mir-548am-3p (MIRT660461)
- hsa-mir-548aj-3p (MIRT660462)
- hsa-mir-548ah-3p (MIRT660463)
- hsa-mir-548ae-3p (MIRT660464)
- hsa-mir-183-5p (MIRT660465)
- hsa-mir-96-5p (MIRT660466)
- hsa-mir-1271-5p (MIRT660467)
- hsa-mir-377-3p (MIRT705500)
- hsa-mir-3650 (MIRT705501)
- hsa-mir-3665 (MIRT705502)
- hsa-mir-3934-5p (MIRT705503)
- hsa-mir-4705 (MIRT705504)
miRNA Products
- Search ViGene Biosciences for ASH1L
Inhibitory RNA Products
- Origene RNAi, siRNA, and shRNA products in human, mouse, rat for ASH1L
- Browse OriGene Inhibitory RNA Products For ASH1L
-
ViGene Biosciences ready-to-package AAV shRNAs for ASH1L gene
Clone Products
- Vector BioLabs ready-to-use adenovirus/AAV for human, mouse, rat
- Addgene plasmids for ASH1L
- VectorBuilder custom plasmid, inducible vectors for ASH1L
- VectorBuilder custom lentivirus, adenovirus, AAV vector/virus packaging for ASH1L
-
VectorBuilder Other custom vectors
- Mammalian expression: PiggyBac
- Mammalian Tet-on expression: plasmid
- Mammalian conditional (Cre-Lox): plasmid and PiggyBac
- Mammalian shRNA knockdown: lentiviral, adenoviral, AAV, and PiggyBac
- CRISPR: plasmid gRNA, lentiviral gRNA, and donor plasmid
- Bacterial expression: pET, pBAD, and pCS
- Yeast expression
Cell Line Products
-
Horizon Cell Lines for ASH1L
-
ViGene Biosciences adenoviral particle packaged cDNA for ASH1L gene
-
ViGene Biosciences lentiviral particle packaged cDNA for ASH1L gene
-
ViGene Biosciences ready-to-package AAV shRNAs for ASH1L gene
Flow Cytometry Products
No data available for Human Phenotype Ontology , Transcription Factor Targets and HOMER Transcription for ASH1L Gene
Localization for ASH1L Gene
Subcellular locations from UniProtKB/Swiss-Prot for ASH1L Gene
- Nucleus. Cell junction, tight junction. Chromosome. Note=The relevance of tight junction localization is however unclear.
| Compartment | Confidence |
|---|---|
| extracellular | 5 |
| nucleus | 5 |
| golgi apparatus | 5 |
| cytosol | 3 |
| GO ID | Qualified GO term | Evidence | PubMed IDs |
|---|---|---|---|
| GO:0005634 | nucleus | TAS | 10860993 |
| GO:0005654 | nucleoplasm | TAS | -- |
| GO:0005694 | chromosome | IEA | -- |
| GO:0005794 | Golgi apparatus | IDA | -- |
| GO:0005923 | bicellular tight junction | TAS,IEA | -- |
Pathways & Interactions for ASH1L Gene
| SuperPathway | Contained pathways | ||
|---|---|---|---|
| 1 | Chromatin organization | ||
| 2 | PKMTs methylate histone lysines | ||
| 3 | Lysine degradation | ||
Pathways by source for ASH1L Gene
1 BioSystems pathway for ASH1L Gene
3 Reactome pathways for ASH1L Gene
1 KEGG pathway for ASH1L Gene
Interacting Proteins for ASH1L Gene
Selected Interacting proteins:
ENSP00000376204
Q9NR48-ASH1L_HUMAN
for ASH1L Gene via
STRING
MINT
IID
| GO ID | Qualified GO term | Evidence | PubMed IDs |
|---|---|---|---|
| GO:0001501 | skeletal system development | IEA | -- |
| GO:0002674 | negative regulation of acute inflammatory response | IEA | -- |
| GO:0006323 | DNA packaging | TAS | 10860993 |
| GO:0006351 | transcription, DNA-templated | IEA | -- |
| GO:0006355 | regulation of transcription, DNA-templated | IEA | -- |
No data available for SIGNOR curated interactions for ASH1L Gene
Transcripts for ASH1L Gene
mRNA/cDNA for ASH1L Gene
- (12) REFSEQ mRNAs :
- (5) Additional mRNA sequences :
- (204) Selected AceView cDNA sequences:
- (7) Ensembl transcripts including schematic representations, and UCSC links where relevant :
Unigene Clusters for ASH1L Gene
CRISPR Products
-
OriGene CRISPR knockouts for ASH1L
-
Santa Cruz Biotechnology (SCBT) CRISPR for ASH1L
- GenScript: Design CRISPR guide RNA sequences for ASH1L
miRNA Products
- Search ViGene Biosciences for ASH1L
Inhibitory RNA Products
- Origene RNAi, siRNA, and shRNA products in human, mouse, rat for ASH1L
- Browse OriGene Inhibitory RNA Products For ASH1L
-
ViGene Biosciences ready-to-package AAV shRNAs for ASH1L gene
Clone Products
- Vector BioLabs ready-to-use adenovirus/AAV for human, mouse, rat
- Addgene plasmids for ASH1L
- VectorBuilder custom plasmid, inducible vectors for ASH1L
- VectorBuilder custom lentivirus, adenovirus, AAV vector/virus packaging for ASH1L
-
VectorBuilder Other custom vectors
- Mammalian expression: PiggyBac
- Mammalian Tet-on expression: plasmid
- Mammalian conditional (Cre-Lox): plasmid and PiggyBac
- Mammalian shRNA knockdown: lentiviral, adenoviral, AAV, and PiggyBac
- CRISPR: plasmid gRNA, lentiviral gRNA, and donor plasmid
- Bacterial expression: pET, pBAD, and pCS
- Yeast expression
Flow Cytometry Products
| ExUns: | 1 | ^ | 2 | ^ | 3 | ^ | 4 | ^ | 5a | · | 5b | ^ | 6 | ^ | 7 | ^ | 8a | · | 8b | · | 8c | ^ | 9 | ^ | 10 | ^ | 11 | ^ | 12 | ^ | 13 | ^ | 14 | ^ | 15 | ^ | 16 | ^ | 17 | ^ | 18 | ^ | 19 | ^ | 20 | ^ | 21a | · | 21b | ^ | 22 | ^ |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| SP1: | - | |||||||||||||||||||||||||||||||||||||||||||||||||||
| SP2: | - | |||||||||||||||||||||||||||||||||||||||||||||||||||
| SP3: | - | |||||||||||||||||||||||||||||||||||||||||||||||||||
| SP4: | - | |||||||||||||||||||||||||||||||||||||||||||||||||||
| SP5: | ||||||||||||||||||||||||||||||||||||||||||||||||||||
| SP6: | ||||||||||||||||||||||||||||||||||||||||||||||||||||
| SP7: |
| ExUns: | 23a | · | 23b | ^ | 24 | ^ | 25a | · | 25b | · | 25c | ^ | 26 | ^ | 27 | ^ | 28a | · | 28b | ^ | 29 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| SP1: | - | - | |||||||||||||||||||
| SP2: | |||||||||||||||||||||
| SP3: | |||||||||||||||||||||
| SP4: | - | ||||||||||||||||||||
| SP5: | |||||||||||||||||||||
| SP6: | |||||||||||||||||||||
| SP7: |
Expression for ASH1L Gene
mRNA expression in embryonic tissues and stem cells from LifeMap Discovery
-
Gonad (Reproductive System)
- Testis Somatic Cells Primitive Gonad
-
Testis (Reproductive System)
- Testis Somatic Cells Primitive Gonad
- Thyroid (Endocrine System)
- Ovary (Reproductive System)
This gene is overexpressed in Fetal Brain (53.3).
Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB, PaxDb, MaxQB, and MOPED for ASH1L Gene
NURSA nuclear receptor signaling pathways regulating expression of ASH1L Gene:
ASH1LSOURCE GeneReport for Unigene cluster for ASH1L Gene:
Hs.491060mRNA Expression by UniProt/SwissProt for ASH1L Gene:
Q9NR48-ASH1L_HUMAN
Tissue specificity:
Widely expressed, with highest level in brain, heart and kidney.
Evidence on tissue expression from TISSUES for ASH1L Gene
- Nervous system(4.7)
Primer Products
-
OriGene qPCR primer pairs for ASH1L
No data available for mRNA differential expression in normal tissues and Phenotype-based relationships between genes and organs from Gene ORGANizer for ASH1L Gene
Orthologs for ASH1L Gene
This gene was present in the common ancestor of animals and fungi.
| Organism | Taxonomy | Gene | Similarity | Type | Details |
|---|---|---|---|---|---|
| chimpanzee (Pan troglodytes) |
Mammalia | ASH1L 34 35 |
|
||
| cow (Bos Taurus) |
Mammalia | ASH1L 34 35 |
|
||
| dog (Canis familiaris) |
Mammalia | ASH1L 34 35 |
|
||
| platypus (Ornithorhynchus anatinus) |
Mammalia | ASH1L 35 |
|
OneToOne | |
| rat (Rattus norvegicus) |
Mammalia | Ash1l 34 |
|
||
| mouse (Mus musculus) |
Mammalia | Ash1l 34 16 35 |
|
||
| oppossum (Monodelphis domestica) |
Mammalia | ASH1L 35 |
|
OneToOne | |
| chicken (Gallus gallus) |
Aves | ASH1L 34 35 |
|
||
| lizard (Anolis carolinensis) |
Reptilia | ASH1L 35 |
|
OneToOne | |
| tropical clawed frog (Silurana tropicalis) |
Amphibia | Str.20154 34 |
|
||
| African clawed frog (Xenopus laevis) |
Amphibia | Xl.4459 34 |
|
||
| zebrafish (Danio rerio) |
Actinopterygii | ash1l 35 |
|
OneToOne | |
| wufi34d11 34 |
|
||||
| fruit fly (Drosophila melanogaster) |
Insecta | ash1 35 |
|
OneToOne | |
| worm (Caenorhabditis elegans) |
Secernentea | set-25 35 |
|
ManyToMany | |
| baker's yeast (Saccharomyces cerevisiae) |
Saccharomycetes | BYE1 37 |
|
|
|
| sea squirt (Ciona savignyi) |
Ascidiacea | -- 35 |
|
ManyToMany | |
| sea squirt (Ciona intestinalis) |
Ascidiacea | Cin.2897 34 |
|
- Species where no ortholog for ASH1L was found in the sources mined by GeneCards:
-
- A. gosspyii yeast (Ashbya gossypii)
- Actinobacteria (Mycobacterium tuberculosis)
- African malaria mosquito (Anopheles gambiae)
- Alicante grape (Vitis vinifera)
- alpha proteobacteria (Wolbachia pipientis)
- amoeba (Dictyostelium discoideum)
- Archea (Pyrococcus horikoshii)
- barley (Hordeum vulgare)
- beta proteobacteria (Neisseria meningitidis)
- bread mold (Neurospora crassa)
- Chromalveolata (Phytophthora infestans)
- common water flea (Daphnia pulex)
- corn (Zea mays)
- E. coli (Escherichia coli)
- filamentous fungi (Aspergillus nidulans)
- Firmicute bacteria (Streptococcus pneumoniae)
- fission yeast (Schizosaccharomyces pombe)
- green algae (Chlamydomonas reinhardtii)
- honey bee (Apis mellifera)
- K. lactis yeast (Kluyveromyces lactis)
- loblloly pine (Pinus taeda)
- malaria parasite (Plasmodium falciparum)
- medicago trunc (Medicago Truncatula)
- moss (Physcomitrella patens)
- orangutan (Pongo pygmaeus)
- pig (Sus scrofa)
- rainbow trout (Oncorhynchus mykiss)
- rice (Oryza sativa)
- rice blast fungus (Magnaporthe grisea)
- schistosome parasite (Schistosoma mansoni)
- sea anemone (Nematostella vectensis)
- sea urchin (Strongylocentrotus purpuratus)
- sorghum (Sorghum bicolor)
- soybean (Glycine max)
- stem rust fungus (Puccinia graminis)
- sugarcane (Saccharum officinarum)
- thale cress (Arabidopsis thaliana)
- tomato (Lycopersicon esculentum)
- toxoplasmosis (Toxoplasma gondii)
- Trichoplax (Trichoplax adhaerens)
- wheat (Triticum aestivum)
Paralogs for ASH1L Gene
Variants for ASH1L Gene
| SNP ID | Clin | Chr 01 pos | Sequence Context | AA Info | Type |
|---|---|---|---|---|---|
| rs1000034706 | -- | 155,418,459(+) | GATTA(A/C)AGAAA | intron-variant | |
| rs1000058487 | -- | 155,496,452(+) | ATGCA(C/T)TCATG | intron-variant | |
| rs1000096410 | -- | 155,525,982(+) | ACTGT(A/G)CTTTA | intron-variant | |
| rs1000096454 | -- | 155,545,668(+) | TATTC(C/T)TATTA | intron-variant | |
| rs1000098786 | -- | 155,402,359(+) | TTTTA(C/T)TGCAC | intron-variant |
| Variant ID | Type | Subtype | PubMed ID |
|---|---|---|---|
| dgv3n68 | CNV | loss | 17160897 |
| esv2476624 | CNV | deletion | 19546169 |
| esv2718418 | CNV | deletion | 23290073 |
| esv2758971 | CNV | gain | 17122850 |
| esv33869 | CNV | loss | 17666407 |
| esv3587623 | CNV | loss | 21293372 |
| esv3587625 | CNV | loss | 21293372 |
| esv3587626 | CNV | loss | 21293372 |
| esv3890671 | CNV | gain | 25118596 |
| nsv1145374 | CNV | deletion | 24896259 |
| nsv1150150 | CNV | duplication | 26484159 |
| nsv831636 | CNV | loss | 17160897 |
| nsv946415 | CNV | duplication | 23825009 |
| nsv946416 | CNV | duplication | 23825009 |
| nsv946417 | CNV | duplication | 23825009 |
Residual Variation Intolerance Score:
0.319% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score:
4.92;
67.79% of all genes are more intolerant (likely to be disease-causing)
Relevant External Links for ASH1L Gene
No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for ASH1L Gene
Disorders for ASH1L Gene
| Disorder | Aliases | PubMed IDs |
|---|---|---|
| intellectual disability and/or autism spectrum disorder, ash1l-related |
|
|
| dental pulp disease |
|
|
Search ASH1L in MalaCards
View complete list of genes associated with diseases
Relevant External Links for ASH1L
- Atlas of Genetics and Cytogenetics in Oncology and Haematology:
- ASH1L
No data available for UniProtKB/Swiss-Prot and Genatlas for ASH1L Gene
Publications for ASH1L Gene
- huASH1 protein, a putative transcription factor encoded by a human homologue of the Drosophila ash1 gene, localizes to both nuclei and cell-cell tight junctions. (PMID: 10860993) Nakamura T. … Canaani E. (Proc. Natl. Acad. Sci. U.S.A. 2000) 2 3 4 22 64
- Crystal structure of the human histone methyltransferase ASH1L catalytic domain and its implications for the regulatory mechanism. (PMID: 21239497) An S. … Song J.J. (J. Biol. Chem. 2011) 3 4 64
- An anthropoid-specific segmental duplication on human chromosome 1q22. (PMID: 16545939) Kuryshev V.Y. … Wiemann S. (Genomics 2006) 2 3 64
- The DNA sequence and biological annotation of human chromosome 1. (PMID: 16710414) Gregory S.G. … Bentley D.R. (Nature 2006) 3 4 64
- Prediction of the coding sequences of unidentified human genes. XVI. The complete sequences of 150 new cDNA clones from brain which code for large proteins in vitro. (PMID: 10718198) Nagase T. … Ohara O. (DNA Res. 2000) 3 4 64
Products for ASH1L Gene
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- Browse OriGene ELISA Kits
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- Search Origene for Purified Proteins, MassSpec and Protein Over-expression Lysates for ASH1L
- Origene Custom Protein Services for ASH1L
- Origene shRNA, siRNA, and RNAi products in human, mouse, rat for ASH1L
- Browse OriGene Inhibitory RNA Products For ASH1L
- OriGene qPCR primer pairs for ASH1L
- OriGene CRISPR knockouts for ASH1L
- Custom cloning services - gene synthesis, subcloning, mutagenesis, variant library, vector shuttling
- Browse OriGene miRNA Products For ASH1L
- GenScript: Next-day shipping cDNA ORF clone for ASH1L in any vector
- GenScript Custom Purified and Recombinant Proteins Services for ASH1L
- GenScript Custom Assay Services for ASH1L
- GenScript Custom overexpressing Cell Line Services for ASH1L
- GenScript: Design CRISPR guide RNA sequences for ASH1L
- Design optimal peptide antigens
- CloneReady with Over 120,000 Genes
- Gene Synthesis: Any Gene in Any Vector
- Vector-based siRNA and miRNA, Ready for Transfection
- Gene Mutant Library, Variants up to 10^11
- Plasmid Preparation
- GenScript Custom Peptide Services for ASH1L
- Browse Sino Biological cDNA Clones
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- Sino Biological ELISA Kits and Pair Sets
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- Sino Biological Transfection Reagents
- Novus Biologicals Antibodies for ASH1L
- Novus Biologicals proteins for ASH1L
- Novus Biologicals
- Novus Biologicals Tissue Microarrays
- Abcam antibodies for ASH1L
- Abcam proteins for ASH1L
- Search for Assays for ASH1L at Abcam
- Find your target
- Search knockout validated antibodies
- Browse monoclonal antibodies
- Vector BioLabs ready-to-use adenovirus/AAV for human, mouse, rat
- Addgene plasmids for ASH1L
- antibodies-online Antibodies for ASH1L: See all 36
- antibodies-online Kits for ASH1L: See all 21
- antibodies-online Proteins for ASH1L: See all 3
- Search antibodies-online for peptides
- GeneTex ASH1L antibody for ASH1L
- Search GeneTex for Proteins for ASH1L
- ViGene Biosciences adenoviral particle packaged cDNA for ASH1L gene
- ViGene Biosciences lentiviral particle packaged cDNA for ASH1L gene
- ViGene Biosciences ready-to-package AAV shRNAs for ASH1L gene
- Search ViGene Biosciences for ASH1L
- Santa Cruz Biotechnology (SCBT) Antibodies for ASH1L
- Search Santa Cruz Biotechnology (SCBT) for ASH1L siRNA/shRNA
- Santa Cruz Biotechnology (SCBT) CRISPR for ASH1L
- Horizon Cell Lines for ASH1L
- Cyagen custom Knockout/knockin (KOKI) mouse models for ASH1L
- VectorBuilder custom plasmid, inducible vectors for ASH1L
- VectorBuilder custom lentivirus, adenovirus, AAV vector/virus packaging for ASH1L
- VectorBuilder Other custom vectors
- Mammalian expression: PiggyBac
- Mammalian Tet-on expression: plasmid
- Mammalian conditional (Cre-Lox): plasmid and PiggyBac
- Mammalian shRNA knockdown: lentiviral, adenoviral, AAV, and PiggyBac
- CRISPR: plasmid gRNA, lentiviral gRNA, and donor plasmid
- Bacterial expression: pET, pBAD, and pCS
- Yeast expression
Sources for ASH1L Gene
- (1) GeneCards
- (2) HGNC
- (3) EntrezGene
- (4) Swiss-Prot
- (5) Ensembl
- (6) OMIM
- (7) GeneLoc
- (8) Gene Wiki
- (9) UCSC
- (10) PhosphoSitePlus
- (11) GO
- (12) TrEMBL
- (13) InterPro
- (14) ProtoNet
- (15) Blocks
- (16) MGI
- (17) IUBMB
- (18) KEGG
- (19) MINT
- (20) STRING
- (21) IntAct
- (22) Novoseek
- (23) PharmGKB
- (24) DrugBank
- (25) HMDB
- (26) UniGene
- (27) AceView
- (28) RNAdb
- (29) ASD
- (30) ECgene
- (31) GeneAnnot
- (32) CGAP SAGE
- (33) SOURCE
- (34) HomoloGene
- (35) PanEnsembl
- (36) euGenes
- (37) SGD
- (38) FlyBase
- (39) WormBase
- (40) Pseudogene
- (41) DGV
- (42) dbSNP
- (43) GenAtlas
- (44) GeneTests
- (45) HGMD
- (46) GAD
- (47) LSDB
- (48) BGMUT
- (49) HuGE
- (50) eBioscience
- (51) Atlas
- (52) Cell Signaling Technology
- (53) GenBank
- (54) H-invDB
- (55) HORDE
- (56) HUGE
- (57) IMGT
- (58) Leiden
- (59) MILLIPORE
- (60) miRBase
- (61) DME
- (62) NCBI
- (63) OriGene
- (64) PubMed
- (65) R&D Systems
- (66) TGDB
- (67) Tocris
- (68) Abcam
- (69) Novus
- (70) ProSpec
- (71) Sino Biological
- (72) GenScript
- (73) Qiagen
- (74) Cloud-Clone Corp.
- (75) Enzo Life Sciences
- (76) OCA
- (77) Proteopedia
- (78) MOPED
- (79) SPIRE
- (80) neXtProt
- (81) Reactome
- (82) GeneGo (Thomson Reuters)
- (83) fRNAdb
- (84) DISEASES
- (85) SIMAP
- (86) GenomeRNAi
- (87) LifeMap
- (88) miRTarBase
- (89) MalaCards
- (90) Invitrogen
- (91) BitterDB
- (92) Vector BioLabs
- (93) ESI-BIO
- (94) RefSeq
- (95) BioSystems
- (96) MaxQB
- (97) IUPHAR
- (98) BioGPS
- (99) Illumina
- (100) COMPARTMENTS
- (101) HOMER
- (102) PaxDb
- (103) ApexBio
- (104) Addgene
- (105) antibodies-online
- (106) CYP
- (107) NONCODE
- (108) SwitchGear Genomics
- (109) TreeFam
- (110) PathCards
- (111) GeneReviews
- (112) GeneTex
- (113) Taconic Biosciences
- (114) GTEx
- (115) ProteomicsDB
- (116) SCBT
- (117) DGIdb
- (118) ClinicalTrials
- (119) FDA Approved Drugs
- (120) RVIS
- (121) SIGNOR
- (122) diseasecard
- (123) NIH Rare Diseases
- (124) Orphanet
- (125) UMLS
- (126) GTR
- (127) Disease Ontology
- (128) Genetics Home Reference
- (129) MeSH
- (130) MedlinePlus
- (131) CDC
- (132) NINDS
- (133) NCBI Bookshelf
- (134) ClinVar
- (135) Gene Damage Index
- (136) ViGene Biosciences
- (137) HPO
- (138) UDN
- (139) VISTA
- (140) FANTOM5
- (141) ENCODE
- (142) ProSci
- (143) Horizon
- (144) NURSA
- (145) IID
- (146) Cyagen
- (147) VectorBuilder
- (148) SNPedia
- (149) BRCA Exchange
- (150) St John's Lab
- (151) CIViC
- (152) ProteoGenix
- (153) dbSUPER
- (154) TISSUES
- (155) Gene ORGANizer