PIK3R5 phosphoinositide-3-kinase regulatory subunit 5
Information
- Symbol
- PIK3R5
- Type
- protein-coding
- Description
- phosphoinositide-3-kinase regulatory subunit 5
- Entrez Gene ID
- 23533
- Genome
- hg19
- Position
- chr17:8,782,233-8,869,024
- Genome
- hg38
- Position
- chr17:8,878,916-8,965,707
- MIM
- 611317 OMIM
- HGNC
- HGNC:30035 HGNC
- Ensembl
- ENSG00000141506 Ensembl
- Links
- NCBI Gene Cards OncoKB
Clinical Significance
| MGeND | ClinVar | |
|---|---|---|
| Benign | 0 | 38 |
| Likely benign | 0 | 32 |
| Conflicting classifications of pathogenicity | 0 | 6 |
| not provided | 1 | 2 |
| Uncertain significance | 0 | 114 |
Ranking
| ClinVar | |
|---|---|
 |
0 |
 |
0 |
 |
24 |
 |
156 |
 |
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
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 | F730038I15Rik |
| SYNONYM | FOAP-2 |
| SYNONYM | P101-PI3K |
| SYNONYM | p101 |
| MIM | 611317 OMIM |
| HGNC | HGNC:30035 HGNC |
| Ensembl | ENSG00000141506 Ensembl |
| AllianceGenome | HGNC:30035 |
| Descrption | Source | Links |
|---|
| ID | Genome | Chromosome | Start | End | Length |
|---|---|---|---|---|---|
| ENST00000584803.1 | hg38 | chr17 | 8,880,639 | 8,911,507 | 30,869 |
| ENST00000581552.5 | hg38 | chr17 | 8,880,096 | 8,912,517 | 32,422 |
| ENST00000611902.4 | hg38 | chr17 | 8,878,919 | 8,965,712 | 86,794 |
| ENST00000447110.6 | hg38 | chr17 | 8,878,916 | 8,965,707 | 86,792 |
| ENST00000616147.4 | hg38 | chr17 | 8,878,919 | 8,965,712 | 86,794 |
| ENST00000623421.3 | hg38 | chr17 | 8,878,919 | 8,965,712 | 86,794 |
| ENST00000447110.6 | hg19 | chr17 | 8,782,233 | 8,869,024 | 86,792 |
| ENST00000581552.5 | hg19 | chr17 | 8,783,413 | 8,815,834 | 32,422 |
| ENST00000584803.1 | hg19 | chr17 | 8,783,956 | 8,814,824 | 30,869 |
| ENST00000623421.3 | hg19 | chr17 | 8,782,236 | 8,869,029 | 86,794 |
| ENST00000616147.4 | hg19 | chr17 | 8,782,236 | 8,869,029 | 86,794 |
| ENST00000611902.4 | hg19 | chr17 | 8,782,236 | 8,869,029 | 86,794 |
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