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Category Symbol Source: HGNC EntrezGene Ensembl GeneCards RNA genes CroW21

GIFtS
-

ASXL1 Gene

protein-coding GIFtS: 54
GCID: GC20P030946

additional sex combs like 1 (Drosophila)

Explore 19 diseases affiliated with
ASXL1 via

MalaCards

our new
Human Malady Compendium

(According to ¹HGNC, ²Entrez Gene,
³UniProtKB/Swiss-Prot, ⁴UniProtKB/TrEMBL, ⁵OMIM, ⁶GeneLoc, ⁷Ensembl, ⁸DME, ⁹miRBase, and/or ¹⁰fRNAdb)
About This Section

Aliases
Additional Sex Combs Like 1 (Drosophila)¹ ²
KIAA0978¹ ³ ⁵
Additional Sex Combs-Like Protein 1² ³
BOPS²
MDS²
Putative Polycomb Group Protein ASXL1²

External Ids:	HGNC: 18318¹	Entrez Gene: 171023²	Ensembl: ENSG00000171456⁷	OMIM: 612990⁵	UniProtKB: Q8IXJ9³

Export aliases for ASXL1 gene to outside databases

Previous GC identifers: GC00U991178 GC20M030694 GC20P031644 GC20P031691 GC20P030409 GC20P027742

(According to Entrez Gene, Tocris Bioscience, Wikipedia's Gene Wiki, PharmGKB,
UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL)
About This Section

Entrez Gene summary for ASXL1:

This gene is similar to the Drosophila additional sex combs gene, which encodes a chromatin-binding protein required

for normal determination of segment identity in the developing embryo. The protein is a member of the Polycomb group

of proteins, which are necessary for the maintenance of stable repression of homeotic and other loci. The protein is

thought to disrupt chromatin in localized areas, enhancing transcription of certain genes while repressing the

transcription of other genes. The protein encoded by this gene functions as a ligand-dependent co-activator for

retinoic acid receptor in cooperation with nuclear receptor coactivator 1. Mutations in this gene are associated with

myelodysplastic syndromes and chronic myelomonocytic leukemia. Alternative splicing results in multiple transcript

variants. (provided by RefSeq, Sep 2009)

UniProtKB/Swiss-Prot: ASXL1_HUMAN, Q8IXJ9

Function: Probable Polycomb group (PcG) protein involved in transcriptional regulation mediated by ligand-bound nuclear

hormone receptors, such as retinoic acid receptors (RARs) and peroxisome proliferator-activated receptor gamma

(PPARG). Acts as coactivator of RARA and RXRA through association with NCOA1. Acts as corepressor through recruitment

of KDM1A and CBX5 to target genes in a cell-type specific manner; the function seems to involve differential

recruitment of methylated histone H3 to respective promoters. Acts as corepressor for PPARG and suppresses its

adipocyte differentiation-inducing activity (By similarity). Non-catalytic component of the PR-DUB complex, a complex

that specifically mediates deubiquitination of histone H2A monoubiquitinated at 'Lys-119' (H2AK119ub1)

Gene Wiki entry for ASXL1

(According to GeneLoc and/or HGNC, and/or
Entrez Gene (NCBI build 37),
and/or miRBase,
Genomic Views according to UCSC (hg19) and Ensembl (release 69), Regulatory elements and Epigenetics data according to QIAGEN, SABiosciences, and/or SwitchGear Genomics)
About This Section

RefSeq DNA sequence:

NC_000020.10 NC_018931.1 NT_011362.10

Regulatory elements:

SABiosciences Regulatory transcription factor binding sites in the ASXL1 gene promoter:
AhR AML1a HSF1 (long) LCR-F1 NF-E2 p45 HNF-1A HNF-1 ARP-1 HSF1short NF-E2
Other transcription factors

SwitchGear Promoter luciferase reporter plasmid: ASXL1 promoter sequence

Search SABiosciences Chromatin IP Primers for ASXL1

Epigenetics:

QIAGEN PyroMark CpG Assay predesigned Pyrosequencing DNA Methylation assays in human, mouse, rat ASXL1

Genomic Location:
Genomic View: UCSC Golden Path with GeneCards custom track

Entrez Gene cytogenetic band: 20q11 Ensembl cytogenetic band: 20q11.21 HGNC cytogenetic band: 20q11

ASXL1 Gene in genomic location: bands according to Ensembl, locations according to (and/or Entrez Gene and/or Ensembl if different)
ASXL1 gene location

GeneLoc information about chromosome 20 GeneLoc Exon Structure

GeneLoc location for GC20P030946: view genomic region (about GC identifiers)

Start:	30,946,147 bp from pter	End:	31,027,122 bp from pter
Size:	80,976 bases	Orientation:	plus strand

(According to ¹UniProtKB, HORDE, neXtProt, Ensembl, and/or Reactome, Modification sites according to ²PhosphoSitePlus, Specific Peptides from DME, Protein expression images according to data from SPIRE MOPED and PaxDb, RefSeq according to NCBI, PDB rendering according to OCA and/or Proteopedia, Recombinant Proteins from EMD Millipore, R&D Systems, GenScript, Enzo Life Sciences, OriGene, Novus Biologicals, Sino Biological, ProSpec, and/or Uscn,
Biochemical Assays by EMD Millipore, R&D Systems, OriGene, GenScript, Cell Signaling Technology, Enzo Life Sciences, and/or Uscn, Ontologies according to Gene Ontology Consortium 01 Mar 2013 and Entrez Gene, Antibodies by EMD Millipore, R&D Systems, GenScript, Cell Signaling Technology, OriGene, Novus Biologicals, Thermo Fisher Scientific, Abcam, and/or Uscn)
About This Section

UniProtKB/Swiss-Prot: ASXL1_HUMAN, Q8IXJ9 (See protein sequence)

Recommended Name: Putative Polycomb group protein ASXL1

Size: 1541 amino acids; 165448 Da

Subunit: Component of the PR-DUB complex, at least composed of BAP1 and ASXL1. Interacts with RARA, RXRA, NCOA1, KDM1A

and CBX5. Interacts with PPARA, PPARG, CBX1 and CBX3 (By similarity)

Subcellular location: Nucleus (By similarity)

Secondary accessions: B2RP59 Q5JWS9 Q8IYY7 Q9H466 Q9NQF8 Q9UFJ0 Q9UFP8 Q9Y2I4

Alternative splicing: 2 isoforms: Q8IXJ9-1 Q8IXJ9-2 (Derived from EST data. No experimental confirmation available)

Explore the universe of human proteins at neXtProt for ASXL1: NX_Q8IXJ9

Post-translational modifications:

View modification sites using PhosphoSitePlus²

View neXtProt modification sites for NX_Q8IXJ9

ASXL1 Protein expression data from MOPED and PaxDb: About this image

REFSEQ proteins (2 alternative transcripts):

NP_001158075.1 NP_056153.2

ENSEMBL proteins:

ENSP00000364839 ENSP00000451216 ENSP00000364841 ENSP00000451444 ENSP00000438654

ENSP00000305119

Human Recombinant Protein Products for ASXL1:

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	Novus Biologicals ASXL1 Protein Novus Biologicals ASXL1 Lysates
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	Browse ProSpec Recombinant Proteins
	Uscn Proteins for ASXL1

Gene Ontology (GO): 2 cellular component terms (GO ID links to tree view): About this table

GO ID	Qualified GO term	Evidence	PubMed IDs
GO:0000790	nuclear chromatin	ISS	--
GO:0035517	PR-DUB complex	IDA	--

ASXL1 for ontologies About GeneDecksing

ASXL1 Antibody Products:

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	Search ThermoFisher Antibodies for ASXL1

Assay Products for ASXL1:

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	Uscn ELISAs and CLIAs for ASXL1

(According to InterPro, ProtoNet, UniProtKB, and/or BLOCKS, Sets of similar genes according to GeneDecks)
About This Section

ASXL1 for domains About GeneDecksing

3 InterPro domains/families:

IPR024815 ASXL1

IPR024811 ASX/ASX-like

IPR026905 ASX-like_PHD

Graphical View of Domain Structure for InterPro Entry Q8IXJ9

ProtoNet protein and cluster: Q8IXJ9

UniProtKB/Swiss-Prot: ASXL1_HUMAN, Q8IXJ9

Domain: Contains one Leu-Xaa-Xaa-Leu-Leu (LXXLL) motif, which may be required for an association with nuclear receptors

Similarity: Belongs to the Asx family

Similarity: Contains 1 PHD-type zinc finger

(According to ¹UniProtKB, Genatlas, LifeMap Discovery™, IUBMB, and/or ²DME, Human phenotypes from GenomeRNAi, Animal models from MGI Mar 06 2013, inGenious Targeting Laboratory,
bound targets from SABiosciences, miRNA Gene Targets from miRTarBase, shRNA from OriGene, Sirion Biotech, RNAi from EMD Millipore, siRNAs from OriGene, QIAGEN, microRNA from QIAGEN, Gene Editing from DNA2.0, Sirion Biotech, Clones from EMD Millipore, OriGene, SwitchGear Genomics, GenScript, Sino Biological, DNA2.0, and Vector BioLabs, Cell Lines from GenScript, LifeMap BioReagents, Sirion Biotech, In Situ Hybridization Assays from Advanced Cell Diagnostics, Ontologies according to Gene Ontology Consortium 01 Mar 2013 via Entrez Gene.)
About This Section

Molecular Function:

UniProtKB/Swiss-Prot Summary: ASXL1_HUMAN, Q8IXJ9

Function: Probable Polycomb group (PcG) protein involved in transcriptional regulation mediated by ligand-bound nuclear

hormone receptors, such as retinoic acid receptors (RARs) and peroxisome proliferator-activated receptor gamma

(PPARG). Acts as coactivator of RARA and RXRA through association with NCOA1. Acts as corepressor through recruitment

of KDM1A and CBX5 to target genes in a cell-type specific manner; the function seems to involve differential

recruitment of methylated histone H3 to respective promoters. Acts as corepressor for PPARG and suppresses its

adipocyte differentiation-inducing activity (By similarity). Non-catalytic component of the PR-DUB complex, a complex

that specifically mediates deubiquitination of histone H2A monoubiquitinated at 'Lys-119' (H2AK119ub1)

Gene Ontology (GO): 5/7 molecular function terms (GO ID links to tree view) (see all 7): About this table

GO ID	Qualified GO term	Evidence	PubMed IDs
GO:0003677	DNA binding	IEA	--
GO:0003713	transcription coactivator activity	ISS	--
GO:0003714	transcription corepressor activity	ISS	--
GO:0005515	protein binding	IPI	--
GO:0042974	retinoic acid receptor binding	ISS	--

ASXL1 for ontologies About GeneDecksing

Phenotypes:
6 MGI mutant phenotypes (inferred from 2 alleles) (MGI details for Asxl1):

cellular	hematopoietic system	immune system	mortality/aging	skeleton
vision/eye

ASXL1 for phenotypes About GeneDecksing

Animal Models:
Mouse knock-out Asxl1^tm1Bc for ASXL1

inGenious Targeting Laboratory - Customizable classic, inducible, and humanized mouse model solutions for ASXL1

miRNA Products:		OriGene 3'-UTR Clone (see all 2): ASXL1 Browse MicroRNA Expression Plasmids
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		8/40 QIAGEN miScript miRNA Assays for microRNAs that regulate ASXL1 (see all 40):
		hsa-miR-4291 hsa-miR-200a hsa-miR-141 hsa-miR-9 hsa-miR-654-5p hsa-miR-155 hsa-miR-23a hsa-miR-4273

		SwitchGear 3'UTR luciferase reporter plasmid: ASXL1 3' UTR sequence

Inhib. RNA Products:		Browse for Gene Knock-down Tools from EMD Millipore
		OriGene 29mer shRNA kits in GFP-retroviral vector in human, mouse, rat for ASXL1 (see all 4) OriGene shRNA RFP: ASXL1 OriGene siRNA: ASXL1
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In Situ Assay
Products:

Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for ASXL1

(Pathways according to EMD Millipore, R&D Systems, Cell Signaling Technology, KEGG, PharmGKB, BioSystems, Reactome, Tocris Bioscience, GeneGo (Thomson Reuters), QIAGEN, and/or UniProtKB, Sets of similar genes according to GeneDecks, Interaction Networks according to SABiosciences, and/or STRING, Interactions according to ¹UniProtKB, ²MINT, ³I2D, and/or ⁴STRING, with links to IntAct and Ensembl, Ontologies according to Gene Ontology Consortium 01 Mar 2013 via Entrez Gene).
About This Section

Interactions:

Search SABiosciences Gene Network Central^TM Interacting Genes and Proteins Networks for ASXL1

STRING Interaction Network Preview (showing 5 interactants - click image to see 25)

5/49 Interacting proteins for ASXL1 (Q8IXJ9^{1, 2, 3} ENSP00000364839⁴) via UniProtKB, MINT, STRING, and/or I2D (see all 49)

Interactant		Interaction Details
GeneCard	External ID(s)	Interaction Details
BAP1	Q92560¹^,³, ENSP00000417132⁴	EBI-1646500,EBI-2558090 I2D: score=2 STRING: ENSP00000417132
AKT1	P31749¹^,³, ENSP00000270202⁴	EBI-1646500,EBI-296087 I2D: score=2 STRING: ENSP00000270202
HIST1H1C	P16403³, ENSP00000339566⁴	I2D: score=1 STRING: ENSP00000339566
HIST2H2AC	Q16777³, ENSP00000332194⁴	I2D: score=1 STRING: ENSP00000332194
MYC	P01106³, ENSP00000367207⁴	I2D: score=1 STRING: ENSP00000367207

About this table

Gene Ontology (GO): 5/9 biological process terms (GO ID links to tree view) (see all 9): About this table

GO ID	Qualified GO term	Evidence	PubMed IDs
GO:0000122	negative regulation of transcription from RNA polymerase II promoter	ISS	--
GO:0006351	transcription, DNA-dependent	IEA	--
GO:0032526	response to retinoic acid	ISS	--
GO:0035359	negative regulation of peroxisome proliferator activated receptor signaling pathway	ISS	--
GO:0035522	monoubiquitinated histone H2A deubiquitination	IDA	--

ASXL1 for ontologies About GeneDecksing

(Chemical Compounds according to UniProtKB, Enzo Life Sciences, EMD Millipore, Tocris Bioscience HMDB, BitterDB, and/or Novoseek, and Drugs according to DrugBank, Enzo Life Sciences, and/or PharmGKB, with drugs/clinical trials/news search links to CenterWatch)
About This Section

Browse Small Molecules at EMD Millipore

Browse drugs & compounds from Enzo Life Sciences

Browse Tocris compounds for ASXL1
Search CenterWatch for drugs/clinical trials and news about ASXL1

(Secondary structures according to fRNAdb,
GenBank/EMBL/DDBJ Accessions according to
Unigene (Build 235 Homo sapiens; Mar 10 2013) or GenBank,
RefSeq according to Entrez Gene,
DOTS (version 10), and/or AceView, transcript ids from Ensembl with links to UCSC,
exon structure from GeneLoc, alternative splicing isoforms according to ASD and/or ECgene,
RNAi Products from EMD Millipore,
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Tagged/untagged cDNA clones from OriGene, SwitchGear Genomics, GenScript, DNA2.0, Vector BioLabs, Primers from OriGene, SABiosciences, and/or QIAGEN )
About This Section

REFSEQ mRNAs for ASXL1 gene (2 alternative transcripts):

NM_001164603.1 NM_015338.5

Unigene Cluster for ASXL1:

Additional sex combs like 1 (Drosophila)

Hs.374043 [show with all ESTs]

Unigene Representative Sequence: NM_015338

9 Ensembl transcripts including schematic representations, and UCSC links where relevant:

ENST00000375687(uc002wxt.3 uc002wxs.3 uc021wbw.1 uc010geb.3)

ENST00000497249 ENST00000375689 ENST00000555343 ENST00000470145 ENST00000553345

ENST00000555564 ENST00000542461(uc002wxr.2) ENST00000306058

miRNA Products:		OriGene 3'-UTR Clone (see all 2): ASXL1 Browse OriGene MicroRNA Expression Plasmids
		QIAGEN Custom miScript Target Protector blocks miRNA-binding site of human, mouse, rat ASXL1
		8/40 QIAGEN miScript miRNA Assays for microRNAs that regulate ASXL1 (see all 40):
		hsa-miR-4291 hsa-miR-200a hsa-miR-141 hsa-miR-9 hsa-miR-654-5p hsa-miR-155 hsa-miR-23a hsa-miR-4273

		SwitchGear 3'UTR luciferase reporter plasmid: ASXL1 3' UTR sequence

Inhib. RNA Products:		Browse for Gene Knock-down Tools from EMD Millipore
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		Sirion Biotech Custom design and validation of potent shRNA sequences against ASXL1

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		QIAGEN QuantiTect SYBR Green Assays in human, mouse, rat ASXL1
		QIAGEN QuantiFast Probe-based Assays in human, mouse, rat ASXL1

Additional cDNA sequence:

AB023195.2 AB084280.1 AJ438952.2 AK025756.1 AK122923.1 AL117518.1 AL117647.1 BC033284.1

BC064984.1 BC100280.1 BC137278.1 BC137280.1

16 DOTS entries:

DT.99942504 DT.443133 DT.120813501 DT.75140530 DT.97825009 DT.120813514 DT.86839152 DT.100655996

DT.95233769 DT.97836454 DT.40314056 DT.75105867 DT.75117106 DT.95331739 DT.95358310 DT.120649788

24/297 AceView cDNA sequences (see all 297):

AB084280 BF222238 BM712734 BX088803 AA923585 BX333013 AL705053 BM712675

AI097038 AI040600 CB054811 AI698966 BU685659 BF446401 AJ438952 BM718875

AL117518 R29282 AB023195 AI632803 AI290539 BF435420 BM717334 BM684383

GeneLoc Exon Structure

5/11 Alternative Splicing Database (ASD) splice patterns (SP) for ASXL1 (see all 11) About this scheme

ExUns:	1	^	2	^	3	^	4	^	5	^	6	^	7	^	8	^	9	^	10	^	11	^	12	^	13	^	14	^	15	^	16a	·	16b	^	17	^	18	^	19a	·	19b	^	20	^	21a	·	21b
SP1:							-		-						-		-						-				-				-		-
SP2:			-		-		-		-						-		-						-				-				-		-
SP3:					-		-		-						-		-						-				-		-		-		-
SP4:			-		-		-		-								-
SP5:

ECgene alternative splicing isoforms for ASXL1

(RNA expression data according to H-InvDB, NONCODE, miRBase, and RNAdb, Expression images according to data from BioGPS, Illumina Human BodyMap, and CGAP SAGE, Sets of similar genes according to GeneDecks, in vivo and in vitro expression data from LifeMap Discovery™, plus additional links to Genevestigator, and/or SOURCE, and/or BioGPS, and/or UniProtKB,
PCR Arrays from SABiosciences, Primers from OriGene, SABiosciences, and/or QIAGEN, In Situ Hybridization Assays from Advanced Cell Diagnostics)
About This Section

ASXL1 expression in normal human tissues (normalized intensities)
See probesets specificity/sensitivity at GeneAnnot
About this imageBioGPS
CGAP TAG: AGGCTGCCCA

About this image

ASXL1 expression in embryonic tissues and stem cells
Expression by the Database of Embryonic development, Stem cell research, and Regenerative medicine About this table

1 LifeMap In Vivo Development Anatomical Compartment/Cell

Tissue

Anatomical Compartment

Cell

Category (developmental path)

Reproductive System

Early Gonad

Testis Somatic Cells

Testis

Expression:

Positive

Negative

Selective marker

Experimental details:

Curated

Microarrays

In-situ hybridization

See ASXL1 Protein Expression from SPIRE MOPED and PaxDB
Genevestigator expression for ASXL1

SOURCE GeneReport for Unigene cluster: Hs.374043

UniProtKB/Swiss-Prot: ASXL1_HUMAN, Q8IXJ9

Tissue specificity: Widely expressed at low level. Expressed in heart, brain, skeletal muscle, placenta, pancreas,

spleen, prostate, small intestine, colon, peripheral blood, leukocytes, bone marrow and fetal liver. Highly expressed

in testes

SABiosciences Expression via Pathway-Focused PCR Arrays including ASXL1:

Polycomb & Trithorax Complexes in human mouse rat

Epigenetic Chromatin Remodeling Factors in human mouse rat

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In Situ
Assay Products:

Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for ASXL1

(Orthologs according to ^1,2HomoloGene (²older version, for species not in ¹newer version), ³euGenes, ⁴SGD , ⁵MGI Mar 06 2013, with possible further links to Flybase and/or WormBase, and/or ⁶Ensembl pan taxonomic compara , Gene Trees according to Ensembl and TreeFam)
About This Section

This gene was present in the common ancestor of animals.

Orthologs for ASXL1 gene from 6/17 species (see all 17) About this table

Organism	Taxonomic classification	Gene	Description	Human Similarity	Orthology Type	Details
mouse (Mus musculus)	Mammalia	Asxl1^{1 , 5}	additional sex combs like 1 (Drosophila)⁵ additional sex combs like 1¹	81.81(n)¹ 75.13(a)¹		2 (75.41 cM)⁵ 228790¹ NM_001039939.1¹ NP_001035028.1¹ 153345845⁵
chicken (Gallus gallus)	Aves	ASXL1¹	additional sex combs like 1 (Drosophila)	62.16(n) 55.05(a)		428158 XM_425716.3 XP_425716.2
lizard (Anolis carolinensis)	Reptilia	ASXL1⁶	--	45(a)	1 ↔ 1	GL343505.1(542936-563072)
African clawed frog (Xenopus laevis)	Amphibia	MGC69124²	hypothetical protein MGC69124	74.51(n)		BC057750.1
zebrafish (Danio rerio)	Actinopterygii	Dr.28826²	Danio rerio cDNA clone IMAGE6793220, partial cds	74.93(n)		BC061959.1
fruit fly (Drosophila melanogaster)	Insecta	Asx⁶	Additional sex combs	11(a)	1 → many	2R(10391463-10399998)

ENSEMBL Gene Tree for ASXL1 (if available)
TreeFam Gene Tree for ASXL1 (if available)

(Paralogs according to ¹HomoloGene,
²Ensembl, and ³SIMAP, Pseudogenes according to ⁴Pseudogene.org Build 68)
About This Section

Paralogs for ASXL1 gene

ASXL3² ASXL2²

3 SIMAP similar genes for ASXL1 using alignment to 7 protein entries: ASXL1_HUMAN (see all proteins):

ASXH1 ASXL2 ASXL3

ASXL1 for paralogs About GeneDecksing

(SNPs/Variants according to the ¹NCBI SNP Database, ²Ensembl, ³PupaSUITE, UniProtKB, and DNA2.0, Linkage Disequilibrium by HapMap, Structural Variations(CNVs/InDels/Inversions) from the Database of Genomic Variants, Mutations from the Human Gene Mutation Database (HGMD) and the Locus Specific Mutation Databases (LSDB), Blood group antigen gene mutations by BGMUT, Resequencing Primers from QIAGEN, Cancer Mutation PCR Arrays and Assays and Copy Number PCR Arrays from SABiosciences)
About This Section

SNP ID	Valid	Clinical significance	Chr 20 pos	Sequence	#	AA Chg	Type	More	#	Allele freq	Pop	Total sample	More
Genomic Data					Transcription Related Data				Allele Frequencies
				--	--	--		--	--
rs201302084^1,2	C	other	31024380(+)	`CAGGTC/TGGGCC`	2	R W	mis¹		0	--	--	--	--
rs141569679^1,2		--	30944212(+)	`GGTAGC/TGCATG`	2	--	us2k¹		0	--	--	--	--
rs6141292^1,2	C,F	--	30944258(+)	`AGGATC/TGCATG`	2	--	us2k¹		5		NA CSA	10
rs190340398^1,2		--	30944312(+)	`GCACTA/CCAGCC`	2	--	us2k¹		0	--	--	--	--
rs182786715^1,2		--	30944326(+)	`GTAACA/CCAGCG`	2	--	us2k¹		0	--	--	--	--
rs139358744^1,2		--	30944382(+)	`CATATC/TCACAG`	2	--	us2k¹		0	--	--	--	--
rs187477625^1,2		--	30944406(+)	`GGACTC/TGGACA`	2	--	us2k¹		0	--	--	--	--
rs150024583^1,2		--	30944433(+)	`GAAGAC/TATTAT`	2	--	us2k¹		0	--	--	--	--
rs147384932^1,2		--	30944474(+)	`GTAAAG/TTTCAG`	2	--	us2k¹		0	--	--	--	--
rs79958147^1,2	C,F	--	30944690(+)	`TGTCTT/AATTCT`	2	--	us2k¹		1		EA	120

HapMap Linkage Disequilibrium report for ASXL1 (30946147 - 31027122 bp)
Structural Variations (Copy Number Variations, Insertions/Deletions, Inversions)
Database of Genomic Variants (DGV) variations for ASXL1: --
Human Gene Mutation Database (HGMD): ASXL1

Locus Specific Mutation Databases (LSDB): ASXL1

5/10 SABiosciences Cancer Mutation PCR Assays for ASXL1 (see all 10):

Cosmic Id	AA Change
41715	p.R1068*
51388	p.R693*
36166	p.Y591fs*1
36165	p.E635fs*15
36167	p.P808fs*10

2 SABiosciences Cancer Mutation PCR Arrays containing ASXL1:

Acute Myeloid Leukemia

Myelodysplastic Syndromes

QIAGEN SeqTarget long-range PCR primers in human, mouse, rat for resequencing ASXL1

DNA2.0 Custom Variant and Variant Library Synthesis for ASXL1

(in which this Gene is Involved, According to MalaCards, OMIM, UniProtKB, the University of Copenhagen DISEASES database, Novoseek, Genatlas, GeneTests, GAD, HuGE Navigator, and/or TGDB.)
About This Section

ASXL1 for disorders About GeneDecksing

OMIM gene information: 612990 OMIM disorders: --

UniProtKB/Swiss-Prot: ASXL1_HUMAN, Q8IXJ9

Defects in ASXL1 are the cause of Bohring-Opitz syndrome (BOPS) [MIM:605039]. A syndrome characterized by

severe intrauterine growth retardation, poor feeding, profound mental retardation, trigonocephaly, prominent metopic

suture, exophthalmos, nevus flammeus of the face, upslanting palpebral fissures, hirsutism, and flexion of the elbows

and wrists with deviation of the wrists and metacarpophalangeal joints

Defects in ASXL1 are a cause of myelodysplastic syndrome (MDS) [MIM:614286]. A heterogeneous group of closely

related clonal hematopoietic disorders. All are characterized by a hypercellular or hypocellular bone marrow with

impaired morphology and maturation, dysplasia of the myeloid, megakaryocytic and/or erythroid lineages, and peripheral

blood cytopenias resulting from ineffective blood cell production. Included diseases are: refractory anemia (RA),

refractory anemia with ringed sideroblasts (RARS), refractory anemia with excess blasts (RAEB), refractory cytopenia

with multilineage dysplasia and ringed sideroblasts (RCMD-RS); chronic myelomonocytic leukemia (CMML) is a

myelodysplastic/myeloproliferative disease. MDS is considered a premalignant condition in a subgroup of patients that

often progresses to acute myeloid leukemia (AML)

19 diseases for ASXL1: About MalaCards

chronic myelomonocytic leukemia myelomonocytic leukemia myelodysplastic syndrome leukemia

polycythemia vera weaver syndrome exophthalmos myeloid leukemia

polycythemia acute myeloid leukemia chronic myeloid leukemia thrombocytosis

nevus myelofibrosis hematopoiesis cervical cancer

cervicitis prostatitis malignant pleural mesothelioma

4 diseases from the University of Copenhagen DISEASES database for ASXL1:

Myelofibrosis Thrombocytosis Leukemia Polycythemia vera

1 Novoseek disease relationship for ASXL1 gene About this table

Disease	-log (P-Val)	Hits	PubMed IDs for Articles with Shared Sentences (# sentences)
tumors	0	1	12657473 (1)

Human Genome Epidemiology (HuGE) Navigator: ASXL1 (6 documents)

Export disorders for ASXL1 gene to outside databases

(in PubMed. Associations of this gene to articles via ¹Entrez Gene, ²UniProtKB/Swiss-Prot, ³HGNC, ⁴GAD, ⁵PharmGKB, ⁶HMDB, ⁷DrugBank, ⁸UniProtKB/TrEMBL, ⁹ Novoseek, and/or ¹⁰fRNAdb)
About This Section

PubMed articles for ASXL1 gene, integrated from 9 sources (see all 68):
(articles sorted by number of sources associating them with ASXL1)

Utopia: connect your pdf to the dynamic
world of online information

A human homolog of Additional sex combs, additional sex combs-like 1, maps to chromosome 20q11. (PubMed id 12657473)^{1, 2, 3, 9} Fisher C.L.... Brock H.W. (2003)
Additional sex comb-like 1 (ASXL1), in cooperation with SRC-1, acts as a ligand-dependent coactivator for retinoic acid receptor. (PubMed id 16606617)^{1, 2, 9} Cho Y.S....Um S.J. (2006)
De novo nonsense mutations in ASXL1 cause Bohring-Opitz syndrome. (PubMed id 21706002)^{1, 2} Hoischen A....de Vries B.B. (2011)
Histone H2A deubiquitinase activity of the Polycomb repressive complex PR-DUB. (PubMed id 20436459)^{1, 2} Scheuermann J.C.... Muller J. (2010)
Frequent mutation of the polycomb-associated gene ASX L1 in the myelodysplastic syndromes and in acute myeloid leukemia. (PubMed id 20182461)^{1, 2} Boultwood J....Wainscoat J.S. (2010)
ASXL1 represses retinoic acid receptor-mediated trans cription through associating with HP1 and LSD1. (PubMed id 19880879)^{1, 2} Lee S.W....Um S.J. (2010)
Mutations of polycomb-associated gene ASXL1 in myelodysplastic syndromes and chronic myelomonocytic leukaemia. (PubMed id 19388938)^{1, 2} Gelsi-Boyer V....Birnbaum D. (2009)
The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC). (PubMed id 15489334)^{1, 2} Gerhard D.S....Malek J. (2004)
Construction of expression-ready cDNA clones for KIAA genes: manual curation of 330 KIAA cDNA clones. (PubMed id 12168954)^{1, 2} Nakajima D.... Nagase T. (2002)
The DNA sequence and comparative analysis of human chromosome 20. (PubMed id 11780052)^{1, 2} Deloukas P....Rogers J. (2001)

(in PubMed, OMIM, and NCBI Bookshelf)
About This Section

		AND	OR
Aliases
Disorders
Free Text

Query String		PubMed OMIM NCBI Bookshelf
	(Note: In FireFox, select the above section and copy using Ctrl-C)

(According to Entrez Gene, HGNC, AceView, euGenes, Ensembl, miRBase, ECgene, Kegg, and/or H-InvDB)
About This Section

Entrez Gene: 171023	HGNC: 18318	AceView: ASXL1	Ensembl:ENSG00000171456	euGenes: HUgn171023
ECgene: ASXL1	H-InvDB: ASXL1

(According to HUGE)
About This Section

HUGE: KIAA0978

(According to PharmGKB, ATLAS, HORDE, IMGT, LEIDEN, UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL,
Wikipedia and/or GeneReviews via UniProtKB/Swiss-Prot)
About This Section

Name	Description
PharmGKB entry for ASXL1	Pharmacogenomics, SNPs, Pathways

Intellectual Property for ASXL1 gene
(Patent information from GeneIP, Licensable technologies from WIS Yeda, Salk, Tufts, IP news from LifeMap Sciences, Inc.)

About This Section

Patent Information for ASXL1 gene:
Search GeneIP for patents involving ASXL1

GeneCards and IP:
Japan Patent Office Licenses GeneCards European Patent Office Licenses GeneCards Improving the IP Search

(Antibodies, recombinant proteins, and assays from EMD Millipore, R&D Systems, OriGene, QIAGEN, GenScript, Cell Signaling Technology, SABiosciences, Novus Biologicals, Sino Biological, Enzo Life Sciences, Abcam, ProSpec, Uscn, Thermo Fisher Scientific, Gene Editing from DNA2.0 and Sirion Biotech, Clones from EMD Millipore, OriGene, GenScript, Sino Biological, DNA2.0, SwitchGear Genomics, Vector BioLabs, Cell lines from GenScript, LifeMap BioReagents, and Sirion Biotech, PCR Arrays from SABiosciences, Drugs and/or compounds from EMD Millipore, Tocris Bioscience, and/or Enzo Life Sciences, In Situ Hybridization Assays from
Advanced Cell Diagnostics, Animal models from inGenious Targeting Laboratory)
About This Section

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additional sex combs like 1 (Drosophila)

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