NAA80 N-alpha-acetyltransferase 80, NatH catalytic subunit
Information
- Symbol
- NAA80
- Type
- protein-coding
- Description
- N-alpha-acetyltransferase 80, NatH catalytic subunit
- Entrez Gene ID
- 24142
- Genome
- hg19
- Position
- chr3:50,333,833-50,336,847
- Genome
- hg38
- Position
- chr3:50,296,402-50,299,416
- MIM
- 607073 OMIM
- HGNC
- HGNC:30252 HGNC
- Ensembl
- ENSG00000243477 Ensembl
- Links
- NCBI Gene Cards OncoKB
Clinical Significance
| MGeND | ClinVar | |
|---|---|---|
| Likely pathogenic | 0 | 2 |
| Likely benign | 0 | 4 |
| Uncertain significance | 0 | 42 |
Ranking
| ClinVar | |
|---|---|
 |
0 |
 |
0 |
 |
0 |
 |
46 |
 |
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 |
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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| Search word | : | |
| Filtering | : |
| 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 | ANDS |
| SYNONYM | FUS-2 |
| SYNONYM | FUS2 |
| SYNONYM | HsNAAA80 |
| SYNONYM | NAT6 |
| MIM | 607073 OMIM |
| HGNC | HGNC:30252 HGNC |
| Ensembl | ENSG00000243477 Ensembl |
| AllianceGenome | HGNC:30252 |
| Descrption | Source | Links |
|---|
| ID | Genome | Chromosome | Start | End | Length |
|---|---|---|---|---|---|
| ENST00000443094.3 | hg38 | chr3 | 50,296,402 | 50,299,405 | 3,004 |
| ENST00000354862.4 | hg38 | chr3 | 50,296,402 | 50,299,416 | 3,015 |
| ENST00000443842.1 | hg38 | chr3 | 50,296,452 | 50,299,400 | 2,949 |
| ENST00000417393.1 | hg38 | chr3 | 50,296,404 | 50,298,859 | 2,456 |
| ENST00000443094.3 | hg19 | chr3 | 50,333,833 | 50,336,836 | 3,004 |
| ENST00000354862.4 | hg19 | chr3 | 50,333,833 | 50,336,847 | 3,015 |
| ENST00000417393.1 | hg19 | chr3 | 50,333,835 | 50,336,290 | 2,456 |
| ENST00000443842.1 | hg19 | chr3 | 50,333,883 | 50,336,831 | 2,949 |
| Key | Value |
|---|---|
| strand | - |
| UniProt | TSG |
| start | 50,333,832 |
| Gene Symbol | NAT6 |
| Entrez GeneId | 24,142 |
| Chr Band | 3p21.3 |
| end | 50,336,851 |
| chr | chr3 |
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