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Asxl1
Gene Detail
Symbol

Name
ID
Asxl1
additional sex combs like 1
MGI:2684063
Synonyms
mKIAA0978
Feature Type
protein coding gene
Genetic Map
Chromosome 2
75.41 cM
Detailed Genetic Map ± 1 cM


Mapping data(2)
Sequence Map
Chr2:153345845-153404007 bp, + strand
From VEGA annotation of GRCm38

  58163 bp   ±  kb flank

VEGA Genome Browser | Ensembl Genome Browser | UCSC Browser | NCBI Map Viewer


Mouse Genome Browser
Vertebrate
homology
HomoloGene:9098  Vertebrate Homology Class
1 human; 1 mouse; 1 rat; 1 chimpanzee; 1 rhesus macaque; 1 cattle; 1 dog; 1 chicken

Gene Tree: Asxl1

Human
homologs
Human Homolog ASXL1, additional sex combs like transcriptional regulator 1
NCBI Gene ID 171023
neXtProt AC  NX_Q8IXJ9
Human Synonyms  BOPS, MDS
Human Chr (Location)  20q11; chr20:32358334-32439319 (+)  GRCh38
Disease Associations  (2) Diseases Associated with Human ASXL1
Mutations,
alleles, and
phenotypes
All mutations/alleles(110) : Gene trapped(102) Targeted(8)
Incidental mutations (data from Mutagenetix , APF )
 
Disruption of this gene causes alterations in lymphocyte development in adult mice. Mice homozygous for a different knock-out allele exhibit complete lethality. Mice heterozygous for this allele exhibit eye opacity and abnormal vertebrae morphology.
 
Human Diseases Modeled Using Mouse Asxl1 (1)    Alleles Annotated to Human Diseases(2)   
Interactions
Asxl1 interacts with 324 markers (Mir1a-1, Mir1a-2, Mir1b, ...)
Gene Ontology
(GO)
classifications
All GO classifications: (27 annotations)
Process bone development, chromatin modification, ...
Component extracellular vesicular exosome, nuclear chromatin, ...
Function DNA binding, metal ion binding, ...
External Resources: FuncBase
Expression
Literature Summary: (4 records)
Data Summary: Results (128)    Tissues (122)    Tissue x Stage Matrix (view)
Assay TypeResults
RNA in situ 116
Northern blot 12
cDNA source data(15)
External Resources: Allen Institute   GEO   Expression Atlas
Molecular
reagents
All nucleic(15) cDNA(15)
Microarray probesets(7)
Other database
links
VEGA Gene ModelOTTMUSG00000019852 (Evidence)
Ensembl Gene ModelENSMUSG00000042548 (Evidence)
Entrez Gene228790 (Evidence)
DFCITC1574296, TC1675267
DoTSDT.529543, DT.110712783
NIA Mouse Gene IndexU042386
Consensus CDS ProjectCCDS38285.1
International Mouse Knockout Project StatusAsxl1
Sequences
Representative SequencesLengthStrain/SpeciesFlank
genomic OTTMUSG00000019852 VEGA Gene Model | MGI Sequence Detail 58163 C57BL/6J ±  kb
transcript OTTMUST00000040633 VEGA | MGI Sequence Detail 6968 Not Applicable 
polypeptide OTTMUSP00000018159 VEGA | MGI Sequence Detail 1514 Not Applicable 

For the selected sequences
All sequences(48) RefSeq(5) UniProt(5)
Polymorphisms
SNPs within 2kb(330 from dbSNP Build 137)
Protein-related
information
ResourceIDDescription
InterPro IPR024815 ASX-like protein 1
InterPro IPR007759 DNA-directed RNA polymerase delta subunit
InterPro IPR024811 Polycomb protein ASX/ASX-like
InterPro IPR026905 Protein ASX-like, PHD domain
Protein Ontology PR:000031577 Polycomb group protein ASXL1
References
(Earliest) J:83413 Okazaki N, et al., Prediction of the coding sequences of mouse homologues of KIAA gene: II. The complete nucleotide sequences of 400 mouse KIAA-homologous cDNAs identified by screening of terminal sequences of cDNA clones randomly sampled from size-fractionated libraries. DNA Res. 2003 Feb 28;10(1):35-48
(Latest) J:213577 McGinley AL, et al., Additional sex combs-like family genes are required for normal cardiovascular development. Genesis. 2014 Jul;52(7):671-86
All references(54)
Disease annotation references (2)

Contributing Projects:
Mouse Genome Database (MGD), Gene Expression Database (GXD), Mouse Tumor Biology (MTB), Gene Ontology (GO), MouseCyc
Citing These Resources
Funding Information
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last database update
11/11/2014
MGI 5.20
The Jackson Laboratory