PRPSAP1 phosphoribosyl pyrophosphate synthetase associated protein 1
Information
- Symbol
- PRPSAP1
- Type
- protein-coding
- Description
- phosphoribosyl pyrophosphate synthetase associated protein 1
- Entrez Gene ID
- 5635
- Genome
- hg19
- Position
- chr17:74,305,559-74,349,997
- Genome
- hg38
- Position
- chr17:76,309,478-76,353,916
- MIM
- 601249 OMIM
- HGNC
- HGNC:9466 HGNC
- Ensembl
- ENSG00000161542 Ensembl
- Links
- NCBI Gene Cards OncoKB
Clinical Significance
| MGeND | ClinVar | |
|---|---|---|
| Likely benign | 0 | 4 |
| Uncertain significance | 0 | 36 |
Ranking
| ClinVar | |
|---|---|
 |
0 |
 |
0 |
 |
0 |
 |
40 |
 |
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
|
| Category | : |
|
| 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
|
| Category | : |
|
| 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 | PAP39 |
| MIM | 601249 OMIM |
| HGNC | HGNC:9466 HGNC |
| Ensembl | ENSG00000161542 Ensembl |
| AllianceGenome | HGNC:9466 |
| Descrption | Source | Links |
|---|
| ID | Genome | Chromosome | Start | End | Length |
|---|---|---|---|---|---|
| ENST00000446526.8 | hg38 | chr17 | 76,309,478 | 76,353,916 | 44,439 |
| ENST00000324684.8 | hg38 | chr17 | 76,310,934 | 76,354,198 | 43,265 |
| ENST00000446526.8 | hg19 | chr17 | 74,305,559 | 74,349,997 | 44,439 |
| ENST00000324684.8 | hg19 | chr17 | 74,307,015 | 74,350,279 | 43,265 |
Genome browser