PPP6C protein phosphatase 6 catalytic subunit
Information
- Symbol
- PPP6C
- Type
- protein-coding
- Description
- protein phosphatase 6 catalytic subunit
- Entrez Gene ID
- 5537
- Genome
- hg19
- Position
- chr9:127,908,853-127,952,218
- Genome
- hg38
- Position
- chr9:125,146,574-125,189,939
- MIM
- 612725 OMIM
- HGNC
- HGNC:9323 HGNC
- Ensembl
- ENSG00000119414 Ensembl
- Links
- NCBI Gene Cards OncoKB
Clinical Significance
| MGeND | ClinVar | |
|---|---|---|
| Likely pathogenic | 1 | 2 |
| Benign | 0 | 2 |
| not provided | 9 | 0 |
| Uncertain significance | 0 | 12 |
Ranking
| ClinVar | |
|---|---|
 |
0 |
 |
0 |
 |
0 |
 |
14 |
 |
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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| 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
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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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| 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 | PP6 |
| SYNONYM | PP6C |
| MIM | 612725 OMIM |
| HGNC | HGNC:9323 HGNC |
| Ensembl | ENSG00000119414 Ensembl |
| AllianceGenome | HGNC:9323 |
| Descrption | Source | Links |
|---|
| ID | Genome | Chromosome | Start | End | Length |
|---|---|---|---|---|---|
| ENST00000451402.5 | hg38 | chr9 | 125,146,574 | 125,189,939 | 43,366 |
| ENST00000373547.9 | hg38 | chr9 | 125,146,573 | 125,189,803 | 43,231 |
| ENST00000415905.5 | hg38 | chr9 | 125,146,574 | 125,189,939 | 43,366 |
| ENST00000373547.9 | hg19 | chr9 | 127,908,852 | 127,952,082 | 43,231 |
| ENST00000415905.5 | hg19 | chr9 | 127,908,853 | 127,952,218 | 43,366 |
| ENST00000451402.5 | hg19 | chr9 | 127,908,853 | 127,952,218 | 43,366 |
| Key | Value |
|---|---|
| strand | - |
| start | 127,908,851 |
| Gene Symbol | PPP6C |
| Entrez GeneId | 5,537 |
| Chr Band | 9q33.3 |
| end | 127,952,217 |
| chr | chr9 |
| Name | protein phosphatase 6, catalytic subunit |
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