PCMTD2 protein-L-isoaspartate (D-aspartate) O-methyltransferase domain containing 2
Information
- Symbol
- PCMTD2
- Type
- protein-coding
- Description
- protein-L-isoaspartate (D-aspartate) O-methyltransferase domain containing 2
- Entrez Gene ID
- 55251
- Genome
- hg19
- Position
- chr20:62,887,101-62,907,579
- Genome
- hg38
- Position
- chr20:64,255,748-64,276,226
- MIM
- 620077 OMIM
- HGNC
- HGNC:15882 HGNC
- Ensembl
- ENSG00000203880 Ensembl
- Links
- NCBI Gene Cards OncoKB
Clinical Significance
| MGeND | ClinVar | |
|---|---|---|
| Likely benign | 0 | 2 |
| Uncertain significance | 0 | 20 |
Ranking
| ClinVar | |
|---|---|
 |
0 |
 |
0 |
 |
0 |
 |
22 |
 |
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
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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 | C20orf36 |
| MIM | 620077 OMIM |
| HGNC | HGNC:15882 HGNC |
| Ensembl | ENSG00000203880 Ensembl |
| AllianceGenome | HGNC:15882 |
| Descrption | Source | Links |
|---|
| ID | Genome | Chromosome | Start | End | Length |
|---|---|---|---|---|---|
| ENST00000609372.1 | hg38 | chr20 | 64,255,749 | 64,274,139 | 18,391 |
| ENST00000369758.8 | hg38 | chr20 | 64,255,741 | 64,275,653 | 19,913 |
| ENST00000308824.11 | hg38 | chr20 | 64,255,748 | 64,276,226 | 20,479 |
| ENST00000369758.8 | hg19 | chr20 | 62,887,094 | 62,907,006 | 19,913 |
| ENST00000308824.11 | hg19 | chr20 | 62,887,101 | 62,907,579 | 20,479 |
| ENST00000609372.1 | hg19 | chr20 | 62,887,102 | 62,905,492 | 18,391 |
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