PTPN6 protein tyrosine phosphatase non-receptor type 6
Information
- Symbol
- PTPN6
- Type
- protein-coding
- Description
- protein tyrosine phosphatase non-receptor type 6
- Entrez Gene ID
- 5777
- Genome
- hg19
- Position
- chr12:7,060,434-7,070,479
- Genome
- hg38
- Position
- chr12:6,951,271-6,961,316
- MIM
- 176883 OMIM
- HGNC
- HGNC:9658 HGNC
- Ensembl
- ENSG00000111679 Ensembl
- Links
- NCBI Gene Cards OncoKB
Clinical Significance
| MGeND | ClinVar | |
|---|---|---|
| Benign | 0 | 18 |
| Likely benign | 0 | 6 |
| Conflicting classifications of pathogenicity | 0 | 2 |
| Uncertain significance | 0 | 44 |
Ranking
| ClinVar | |
|---|---|
 |
0 |
 |
0 |
 |
0 |
 |
66 |
 |
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
[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 | |||||||||||
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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 | HCP |
| SYNONYM | HCPH |
| SYNONYM | HPTP1C |
| SYNONYM | PTP-1C |
| SYNONYM | SH-PTP1 |
| SYNONYM | SHP-1 |
| SYNONYM | SHP-1L |
| SYNONYM | SHP1 |
| MIM | 176883 OMIM |
| HGNC | HGNC:9658 HGNC |
| Ensembl | ENSG00000111679 Ensembl |
| AllianceGenome | HGNC:9658 |
| Descrption | Source | Links |
|---|
| ID | Genome | Chromosome | Start | End | Length |
|---|---|---|---|---|---|
| ENST00000456013.5 | hg38 | chr12 | 6,951,271 | 6,961,316 | 10,046 |
| ENST00000399448.5 | hg38 | chr12 | 6,946,577 | 6,961,316 | 14,740 |
| ENST00000318974.14 | hg38 | chr12 | 6,951,356 | 6,961,316 | 9,961 |
| ENST00000399448.5 | hg19 | chr12 | 7,055,740 | 7,070,479 | 14,740 |
| ENST00000456013.5 | hg19 | chr12 | 7,060,434 | 7,070,479 | 10,046 |
| ENST00000318974.14 | hg19 | chr12 | 7,060,519 | 7,070,479 | 9,961 |
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