PCMTD1 protein-L-isoaspartate (D-aspartate) O-methyltransferase domain containing 1
Information
- Symbol
- PCMTD1
- Type
- protein-coding
- Description
- protein-L-isoaspartate (D-aspartate) O-methyltransferase domain containing 1
- Entrez Gene ID
- 115294
- Genome
- hg19
- Position
- chr8:52,730,140-52,811,658
- Genome
- hg38
- Position
- chr8:51,817,580-51,899,098
- MIM
- 620091 OMIM
- HGNC
- HGNC:30483 HGNC
- Ensembl
- ENSG00000168300 Ensembl
- Links
- NCBI Gene Cards OncoKB
Clinical Significance
| MGeND | ClinVar | |
|---|---|---|
| Uncertain significance | 0 | 12 |
Ranking
| ClinVar | |
|---|---|
 |
0 |
 |
0 |
 |
0 |
 |
12 |
 |
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 |
|---|---|
| MIM | 620091 OMIM |
| HGNC | HGNC:30483 HGNC |
| Ensembl | ENSG00000168300 Ensembl |
| AllianceGenome | HGNC:30483 |
| Descrption | Source | Links |
|---|
| ID | Genome | Chromosome | Start | End | Length |
|---|---|---|---|---|---|
| ENST00000360540.9 | hg38 | chr8 | 51,817,580 | 51,899,098 | 81,519 |
| ENST00000544451.2 | hg38 | chr8 | 51,817,575 | 51,899,186 | 81,612 |
| ENST00000522514.6 | hg38 | chr8 | 51,817,583 | 51,899,036 | 81,454 |
| ENST00000521344.1 | hg38 | chr8 | 51,848,945 | 51,899,113 | 50,169 |
| ENST00000544451.2 | hg19 | chr8 | 52,730,135 | 52,811,746 | 81,612 |
| ENST00000360540.9 | hg19 | chr8 | 52,730,140 | 52,811,658 | 81,519 |
| ENST00000522514.6 | hg19 | chr8 | 52,730,143 | 52,811,596 | 81,454 |
| ENST00000521344.1 | hg19 | chr8 | 52,761,505 | 52,811,673 | 50,169 |
Genome browser