PTPMT1 protein tyrosine phosphatase mitochondrial 1
Information
- Symbol
- PTPMT1
- Type
- protein-coding
- Description
- protein tyrosine phosphatase mitochondrial 1
- Entrez Gene ID
- 114971
- Genome
- hg19
- Position
- chr11:47,587,151-47,595,013
- Genome
- hg38
- Position
- chr11:47,565,599-47,573,461
- MIM
- 609538 OMIM
- HGNC
- HGNC:26965 HGNC
- Ensembl
- ENSG00000110536 Ensembl
- Links
- NCBI Gene Cards OncoKB
Clinical Significance
| MGeND | ClinVar | |
|---|---|---|
| Benign | 0 | 2 |
| Likely benign | 0 | 2 |
| Uncertain significance | 0 | 28 |
Ranking
| ClinVar | |
|---|---|
 |
0 |
 |
0 |
 |
0 |
 |
32 |
 |
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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| 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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| 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 | DUSP23 |
| SYNONYM | MOSP |
| SYNONYM | PLIP |
| SYNONYM | PNAS-129 |
| MIM | 609538 OMIM |
| HGNC | HGNC:26965 HGNC |
| Ensembl | ENSG00000110536 Ensembl |
| AllianceGenome | HGNC:26965 |
| Descrption | Source | Links |
|---|
| ID | Genome | Chromosome | Start | End | Length |
|---|---|---|---|---|---|
| ENST00000326656.12 | hg38 | chr11 | 47,565,599 | 47,572,119 | 6,521 |
| ENST00000534775.1 | hg38 | chr11 | 47,565,458 | 47,572,360 | 6,903 |
| ENST00000426530.2 | hg38 | chr11 | 47,565,430 | 47,571,927 | 6,498 |
| ENST00000326674.10 | hg38 | chr11 | 47,565,599 | 47,573,461 | 7,863 |
| ENST00000426530.2 | hg19 | chr11 | 47,586,982 | 47,593,479 | 6,498 |
| ENST00000534775.1 | hg19 | chr11 | 47,587,010 | 47,593,912 | 6,903 |
| ENST00000326656.12 | hg19 | chr11 | 47,587,151 | 47,593,671 | 6,521 |
| ENST00000326674.10 | hg19 | chr11 | 47,587,151 | 47,595,013 | 7,863 |
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