ASXL1 ASXL transcriptional regulator 1

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Information
Clinical Significance
Ranking
Frequency
Disease area statistics
Locus Zoom
Variants
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Information

Symbol: ASXL1
Type: protein-coding
Description: ASXL transcriptional regulator 1
Entrez Gene ID: 171023
Genome: hg19
Position: chr20:30,946,134-31,027,122
Genome: hg38
Position: chr20:32,358,331-32,439,319
MIM: 612990 OMIM
HGNC: HGNC:18318 HGNC
Ensembl: ENSG00000171456 Ensembl
Links: NCBI Gene Cards OncoKB

Clinical Significance

	MGeND	ClinVar
Pathogenic	8	176
Likely pathogenic	1	56
Benign	0	223
Likely benign	3	671
Conflicting classifications of pathogenicity	0	86
not provided	119	10
Uncertain significance	8	774

Ranking

	ClinVar
	0
	0
	282
	1,484
	38

Frequency

EXAC_EAS

EXAC_EAS

HGVD

HGVD

TOMMO

TOMMO

Gene

Position

EXAC_EAS

EXAC_EAS

HGVD

HGVD

TOMMO

TOMMO

Gene

Position

Disease area statistics

Locus Zoom

Variants

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Target data	:	MGeND data only
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Variant name	Gene	AA change	CDS	Japanese frequency	TogoVar	MGeND				Genome	ClinVar			CIViC evidence	DisGeNET entry	COSMIC occurrence	Prediction
Variant name	Gene	AA change	CDS	Japanese frequency	TogoVar	Entry	Origin	Type	Annotation	Genome	Entry	Origin	Annotation	CIViC evidence	DisGeNET entry	COSMIC occurrence	Prediction

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Target data	:	MGeND data only
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Name	MGeND				Type	Genome	Size	Chromosome	Start	Stop	Ref	Alt	ClinVar	Origin	Entry	CIViC evidence	DisGeNET entry
Name	Entry	Origin	Type	Annotation	Type	Genome	Size	Chromosome	Start	Stop	Ref	Alt	ClinVar	Origin	Entry	CIViC evidence	DisGeNET entry

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Target data	:	MGeND data only
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Name	MGeND				Type	Genome	Gene symbol	Chromosome	Genomic start	Genomic stop	Strand	Ref	Alt	ClinVar	Origin	Entry	CIViC evidence	DisGeNET entry
Name	Entry	Origin	Type	Annotation	Type	Genome	Gene symbol	Chromosome	Genomic start	Genomic stop	Strand	Ref	Alt	ClinVar	Origin	Entry	CIViC evidence	DisGeNET entry

Type	ID
SYNONYM	BOPS
SYNONYM	MDS
MIM	612990 OMIM
HGNC	HGNC:18318 HGNC
Ensembl	ENSG00000171456 Ensembl
AllianceGenome	HGNC:18318

Descrption	Source	Links

ID	Genome	Chromosome	Start	End	Length
ENST00000651418.1	hg38	chr20	32,358,330	32,439,260	80,931
ENST00000497249.6	hg38	chr20	32,359,110	32,372,238	13,129
ENST00000375687.10	hg38	chr20	32,358,331	32,439,319	80,989
ENST00000646367.1	hg38	chr20	32,358,349	32,372,549	14,201
ENST00000306058.9	hg38	chr20	32,359,747	32,439,318	79,572
ENST00000375689.5	hg38	chr20	32,359,565	32,372,553	12,989
ENST00000646985.1	hg38	chr20	32,359,065	32,439,318	80,254
ENST00000375687.10	hg19	chr20	30,946,134	31,027,122	80,989
ENST00000651418.1	hg19	chr20	30,946,133	31,027,063	80,931
ENST00000306058.9	hg19	chr20	30,947,550	31,027,121	79,572
ENST00000375689.5	hg19	chr20	30,947,368	30,960,356	12,989
ENST00000497249.6	hg19	chr20	30,946,913	30,960,041	13,129
ENST00000646985.1	hg19	chr20	30,946,868	31,027,121	80,254
ENST00000646367.1	hg19	chr20	30,946,152	30,960,352	14,201

Key	Value
strand	+
start	30,946,146
Vogelstein	TSG
Gene Symbol	ASXL1
Entrez GeneId	171,023
Chr Band	20q11.1
end	31,027,121
chr	chr20
Name	additional sex combs like 1

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