ATG4D autophagy related 4D cysteine peptidase
Information
- Symbol
- ATG4D
- Type
- protein-coding
- Description
- autophagy related 4D cysteine peptidase
- Entrez Gene ID
- 84971
- Genome
- hg19
- Position
- chr19:10,654,580-10,664,094
- Genome
- hg38
- Position
- chr19:10,543,904-10,553,418
- MIM
- 611340 OMIM
- HGNC
- HGNC:20789 HGNC
- Ensembl
- ENSG00000130734 Ensembl
- Links
- NCBI Gene Cards OncoKB
Clinical Significance
MGeND | ClinVar | |
---|---|---|
Pathogenic | 0 | 4 |
Benign | 0 | 4 |
Likely benign | 0 | 8 |
Uncertain significance | 0 | 68 |
Ranking
ClinVar | |
---|---|
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0 |
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0 |
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2 |
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78 |
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2 |
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 |
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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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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 | APG4-D |
SYNONYM | APG4D |
SYNONYM | AUTL4 |
SYNONYM | HsAPG4D |
MIM | 611340 OMIM |
HGNC | HGNC:20789 HGNC |
Ensembl | ENSG00000130734 Ensembl |
AllianceGenome | HGNC:20789 |
Descrption | Source | Links |
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ID | Genome | Chromosome | Start | End | Length |
---|---|---|---|---|---|
ENST00000309469.9 | hg38 | chr19 | 10,543,904 | 10,553,418 | 9,515 |
ENST00000309469.9 | hg19 | chr19 | 10,654,580 | 10,664,094 | 9,515 |
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