ATG4B autophagy related 4B cysteine peptidase
Information
- Symbol
- ATG4B
- Type
- protein-coding
- Description
- autophagy related 4B cysteine peptidase
- Entrez Gene ID
- 23192
- Genome
- hg19
- Position
- chr2:242,577,108-242,613,272
- Genome
- hg38
- Position
- chr2:241,637,693-241,673,857
- MIM
- 611338 OMIM
- HGNC
- HGNC:20790 HGNC
- Ensembl
- ENSG00000168397 Ensembl
- Links
- NCBI Gene Cards OncoKB
Clinical Significance
| MGeND | ClinVar | |
|---|---|---|
| Benign | 0 | 2 |
| Likely benign | 0 | 4 |
| Uncertain significance | 0 | 62 |
Ranking
| ClinVar | |
|---|---|
 |
0 |
 |
0 |
 |
0 |
 |
68 |
 |
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 | |||||
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| Entry | Origin | Type | Annotation | Entry | Origin | Annotation | |||||||||||
Search Word
| Target data | : |
MGeND data only
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| Filtering | : |
| Name | MGeND | Type | Genome | Size | Chromosome | Start | Stop | Ref | Alt | ClinVar | Origin | Entry | CIViC evidence | DisGeNET entry | |||
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| Entry | Origin | Type | Annotation | ||||||||||||||
Search Word
| Target data | : |
MGeND data only
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| Category | : |
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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 | |||
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| Entry | Origin | Type | Annotation | |||||||||||||||
| Type | ID |
|---|---|
| SYNONYM | APG4B |
| SYNONYM | AUTL1 |
| SYNONYM | HsAPG4B |
| MIM | 611338 OMIM |
| HGNC | HGNC:20790 HGNC |
| Ensembl | ENSG00000168397 Ensembl |
| AllianceGenome | HGNC:20790 |
| Descrption | Source | Links |
|---|
| ID | Genome | Chromosome | Start | End | Length |
|---|---|---|---|---|---|
| ENST00000625810.2 | hg38 | chr2 | 241,637,612 | 241,651,966 | 14,355 |
| ENST00000405546.7 | hg38 | chr2 | 241,637,213 | 241,673,854 | 36,642 |
| ENST00000402096.5 | hg38 | chr2 | 241,637,612 | 241,672,628 | 35,017 |
| ENST00000404914.8 | hg38 | chr2 | 241,637,693 | 241,673,857 | 36,165 |
| ENST00000405546.7 | hg19 | chr2 | 242,576,628 | 242,613,269 | 36,642 |
| ENST00000402096.5 | hg19 | chr2 | 242,577,027 | 242,612,043 | 35,017 |
| ENST00000404914.8 | hg19 | chr2 | 242,577,108 | 242,613,272 | 36,165 |
| ENST00000625810.2 | hg19 | chr2 | 242,577,027 | 242,591,381 | 14,355 |
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