PPP1R18 protein phosphatase 1 regulatory subunit 18
Information
- Symbol
- PPP1R18
- Type
- protein-coding
- Description
- protein phosphatase 1 regulatory subunit 18
- Entrez Gene ID
- 170954
- Genome
- hg19
- Position
- chr6:30,644,166-30,654,422
- Genome
- hg38
- Position
- chr6:30,676,389-30,686,645
- MIM
- 610990 OMIM
- HGNC
- HGNC:29413 HGNC
- Ensembl
- ENSG00000146112 Ensembl
- Links
- NCBI Gene Cards OncoKB
Clinical Significance
| MGeND | ClinVar | |
|---|---|---|
| Benign | 0 | 6 |
| Likely benign | 0 | 6 |
| not provided | 17 | 0 |
| Uncertain significance | 0 | 70 |
Ranking
| ClinVar | |
|---|---|
 |
0 |
 |
0 |
 |
0 |
 |
82 |
 |
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 | HKMT1098 |
| SYNONYM | KIAA1949 |
| MIM | 610990 OMIM |
| HGNC | HGNC:29413 HGNC |
| Ensembl | ENSG00000146112 Ensembl |
| AllianceGenome | HGNC:29413 |
| Descrption | Source | Links |
|---|
| ID | Genome | Chromosome | Start | End | Length |
|---|---|---|---|---|---|
| ENST00000274853.8 | hg38 | chr6 | 30,676,389 | 30,686,645 | 10,257 |
| ENST00000399199.7 | hg38 | chr6 | 30,676,389 | 30,687,216 | 10,828 |
| ENST00000615527.1 | hg38 | chr6 | 30,676,391 | 30,687,895 | 11,505 |
| ENST00000615892.4 | hg38 | chr6 | 30,676,389 | 30,684,744 | 8,356 |
| ENST00000615892.4 | hg19 | chr6 | 30,644,166 | 30,652,521 | 8,356 |
| ENST00000274853.8 | hg19 | chr6 | 30,644,166 | 30,654,422 | 10,257 |
| ENST00000399199.7 | hg19 | chr6 | 30,644,166 | 30,654,993 | 10,828 |
| ENST00000615527.1 | hg19 | chr6 | 30,644,168 | 30,655,672 | 11,505 |
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