PIGA phosphatidylinositol glycan anchor biosynthesis class A
Information
- Symbol
- PIGA
- Type
- protein-coding
- Description
- phosphatidylinositol glycan anchor biosynthesis class A
- Entrez Gene ID
- 5277
- Genome
- hg19
- Position
- chrX:15,337,577-15,353,551
- Genome
- hg38
- Position
- chrX:15,319,455-15,335,429
- MIM
- 311770 OMIM
- HGNC
- HGNC:8957 HGNC
- Ensembl
- ENSG00000165195 Ensembl
- Links
- NCBI Gene Cards OncoKB
Clinical Significance
| MGeND | ClinVar | |
|---|---|---|
| Pathogenic | 2 | 44 |
| Likely pathogenic | 8 | 50 |
| Benign | 0 | 76 |
| Likely benign | 0 | 192 |
| Conflicting classifications of pathogenicity | 0 | 44 |
| not provided | 12 | 0 |
| Uncertain significance | 0 | 286 |
Ranking
| ClinVar | |
|---|---|
 |
0 |
 |
0 |
 |
104 |
 |
460 |
 |
52 |
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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| 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
|
| 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 | GPI3 |
| SYNONYM | MCAHS2 |
| SYNONYM | NEDEPH |
| SYNONYM | PIG-A |
| SYNONYM | PNH1 |
| MIM | 311770 OMIM |
| HGNC | HGNC:8957 HGNC |
| Ensembl | ENSG00000165195 Ensembl |
| AllianceGenome | HGNC:8957 |
| Descrption | Source | Links |
|---|
| ID | Genome | Chromosome | Start | End | Length |
|---|---|---|---|---|---|
| ENST00000542278.6 | hg38 | chrX | 15,319,455 | 15,335,429 | 15,975 |
| ENST00000482148.6 | hg38 | chrX | 15,321,427 | 15,335,503 | 14,077 |
| ENST00000637296.1 | hg38 | chrX | 15,320,359 | 15,335,523 | 15,165 |
| ENST00000333590.6 | hg38 | chrX | 15,319,456 | 15,335,523 | 16,068 |
| ENST00000634582.1 | hg38 | chrX | 15,321,325 | 15,335,544 | 14,220 |
| ENST00000542278.6 | hg19 | chrX | 15,337,577 | 15,353,551 | 15,975 |
| ENST00000482148.6 | hg19 | chrX | 15,339,549 | 15,353,625 | 14,077 |
| ENST00000637296.1 | hg19 | chrX | 15,338,481 | 15,353,645 | 15,165 |
| ENST00000634582.1 | hg19 | chrX | 15,339,447 | 15,353,666 | 14,220 |
| ENST00000333590.6 | hg19 | chrX | 15,337,578 | 15,353,645 | 16,068 |
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