UBA1 ubiquitin like modifier activating enzyme 1
Information
- Symbol
- UBA1
- Type
- protein-coding
- Description
- ubiquitin like modifier activating enzyme 1
- Entrez Gene ID
- 7317
- Genome
- hg19
- Position
- chrX:47,053,228-47,074,527
- Genome
- hg38
- Position
- chrX:47,193,829-47,215,128
- MIM
- 314370 OMIM
- HGNC
- HGNC:12469 HGNC
- Ensembl
- ENSG00000130985 Ensembl
- Links
- NCBI Gene Cards OncoKB
Clinical Significance
MGeND | ClinVar | |
---|---|---|
Pathogenic | 0 | 2 |
Likely pathogenic | 0 | 2 |
Benign | 0 | 226 |
Likely benign | 0 | 498 |
Conflicting classifications of pathogenicity | 0 | 34 |
not provided | 6 | 0 |
Uncertain significance | 0 | 456 |
Ranking
ClinVar | |
---|---|
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0 |
![]() |
0 |
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226 |
![]() |
872 |
![]() |
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
Locus Zoom
Variants
Search Word
Target data | : |
MGeND data only
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Category | : |
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Search word | : | |
Filtering | : |
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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Category | : |
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Search word | : | |
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
|
Category | : |
|
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 | A1S9 |
SYNONYM | A1S9T |
SYNONYM | A1ST |
SYNONYM | AMCX1 |
SYNONYM | CFAP124 |
SYNONYM | GXP1 |
SYNONYM | POC20 |
SYNONYM | SMAX2 |
SYNONYM | UBA1A |
SYNONYM | UBE1 |
SYNONYM | UBE1X |
SYNONYM | VEXAS |
MIM | 314370 OMIM |
HGNC | HGNC:12469 HGNC |
Ensembl | ENSG00000130985 Ensembl |
AllianceGenome | HGNC:12469 |
Descrption | Source | Links |
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ID | Genome | Chromosome | Start | End | Length |
---|---|---|---|---|---|
ENST00000377269.3 | hg38 | chrX | 47,208,562 | 47,215,126 | 6,565 |
ENST00000377351.8 | hg38 | chrX | 47,190,861 | 47,215,128 | 24,268 |
ENST00000335972.11 | hg38 | chrX | 47,193,829 | 47,215,128 | 21,300 |
ENST00000377351.8 | hg19 | chrX | 47,050,260 | 47,074,527 | 24,268 |
ENST00000335972.11 | hg19 | chrX | 47,053,228 | 47,074,527 | 21,300 |
ENST00000377269.3 | hg19 | chrX | 47,067,961 | 47,074,525 | 6,565 |
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