PPT2 palmitoyl-protein thioesterase 2
Information
Clinical Significance
| MGeND | ClinVar | |
|---|---|---|
| Likely benign | 0 | 2 |
| not provided | 3 | 0 |
| Uncertain significance | 0 | 30 |
Ranking
| ClinVar | |
|---|---|
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0 |
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0 |
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0 |
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32 |
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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
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MGeND data only
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| 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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| 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 | C6orf8 |
| SYNONYM | G14 |
| SYNONYM | PPT-2 |
| MIM | 603298 OMIM |
| HGNC | HGNC:9326 HGNC |
| Ensembl | ENSG00000221988 Ensembl |
| AllianceGenome | HGNC:9326 |
| Descrption | Source | Links |
|---|
| ID | Genome | Chromosome | Start | End | Length |
|---|---|---|---|---|---|
| ENST00000361568.6 | hg38 | chr6 | 32,153,523 | 32,163,678 | 10,156 |
| ENST00000375143.6 | hg38 | chr6 | 32,154,138 | 32,163,678 | 9,541 |
| ENST00000395523.5 | hg38 | chr6 | 32,153,577 | 32,163,678 | 10,102 |
| ENST00000375137.6 | hg38 | chr6 | 32,154,095 | 32,163,678 | 9,584 |
| ENST00000324816.11 | hg38 | chr6 | 32,154,141 | 32,163,675 | 9,535 |
| ENST00000361568.6 | hg19 | chr6 | 32,121,300 | 32,131,455 | 10,156 |
| ENST00000395523.5 | hg19 | chr6 | 32,121,354 | 32,131,455 | 10,102 |
| ENST00000375137.6 | hg19 | chr6 | 32,121,872 | 32,131,455 | 9,584 |
| ENST00000375143.6 | hg19 | chr6 | 32,121,915 | 32,131,455 | 9,541 |
| ENST00000324816.11 | hg19 | chr6 | 32,121,918 | 32,131,452 | 9,535 |
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