ASH2L ASH2 like, histone lysine methyltransferase complex subunit
Information
- Symbol
- ASH2L
- Type
- protein-coding
- Description
- ASH2 like, histone lysine methyltransferase complex subunit
- Entrez Gene ID
- 9070
- Genome
- hg19
- Position
- chr8:37,963,047-37,997,598
- Genome
- hg38
- Position
- chr8:38,105,529-38,140,080
- MIM
- 604782 OMIM
- HGNC
- HGNC:744 HGNC
- Ensembl
- ENSG00000129691 Ensembl
- Links
- NCBI Gene Cards OncoKB
Clinical Significance
MGeND | ClinVar | |
---|---|---|
Likely pathogenic | 0 | 2 |
Likely benign | 0 | 4 |
Uncertain significance | 0 | 42 |
Ranking
ClinVar | |
---|---|
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0 |
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0 |
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0 |
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48 |
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0 |
Frequency
EXAC_EAS
EXAC_EAS
HGVD
HGVD
TOMMO
TOMMO
Gene
Position
EXAC_EAS
EXAC_EAS
HGVD
HGVD
TOMMO
TOMMO
Gene
Position
Disease area statistics
[No Data.]
Locus Zoom
Variants
Search Word
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 | |||||
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Entry | Origin | Type | Annotation | Entry | Origin | Annotation |
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MGeND data only
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Name | MGeND | Type | Genome | Size | Chromosome | Start | Stop | Ref | Alt | ClinVar | Origin | Entry | CIViC evidence | DisGeNET entry | |||
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Entry | Origin | Type | Annotation |
Search Word
Target data | : |
MGeND data only
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Category | : |
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Filtering | : |
Name | MGeND | Type | Genome | Gene symbol | Chromosome | Genomic start | Genomic stop | Strand | Ref | Alt | ClinVar | Origin | Entry | CIViC evidence | DisGeNET entry | |||
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Entry | Origin | Type | Annotation |
Type | ID |
---|---|
SYNONYM | ASH2 |
SYNONYM | ASH2L1 |
SYNONYM | ASH2L2 |
SYNONYM | Bre2 |
MIM | 604782 OMIM |
HGNC | HGNC:744 HGNC |
Ensembl | ENSG00000129691 Ensembl |
AllianceGenome | HGNC:744 |
Descrption | Source | Links |
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ID | Genome | Chromosome | Start | End | Length |
---|---|---|---|---|---|
ENST00000343823.11 | hg38 | chr8 | 38,105,529 | 38,140,080 | 34,552 |
ENST00000545394.2 | hg38 | chr8 | 38,105,493 | 38,140,080 | 34,588 |
ENST00000521652.5 | hg38 | chr8 | 38,105,939 | 38,139,703 | 33,765 |
ENST00000428278.6 | hg38 | chr8 | 38,105,793 | 38,139,703 | 33,911 |
ENST00000545394.2 | hg19 | chr8 | 37,963,011 | 37,997,598 | 34,588 |
ENST00000343823.11 | hg19 | chr8 | 37,963,047 | 37,997,598 | 34,552 |
ENST00000428278.6 | hg19 | chr8 | 37,963,311 | 37,997,221 | 33,911 |
ENST00000521652.5 | hg19 | chr8 | 37,963,457 | 37,997,221 | 33,765 |
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