PTPN1 protein tyrosine phosphatase non-receptor type 1
Information
- Symbol
- PTPN1
- Type
- protein-coding
- Description
- protein tyrosine phosphatase non-receptor type 1
- Entrez Gene ID
- 5770
- Genome
- hg19
- Position
- chr20:49,126,920-49,201,778
- Genome
- hg38
- Position
- chr20:50,510,383-50,585,241
- MIM
- 176885 OMIM
- HGNC
- HGNC:9642 HGNC
- Ensembl
- ENSG00000196396 Ensembl
- Links
- NCBI Gene Cards OncoKB
Clinical Significance
MGeND | ClinVar | |
---|---|---|
Benign | 0 | 4 |
Likely benign | 0 | 8 |
not provided | 1 | 0 |
risk factor | 0 | 2 |
Uncertain significance | 0 | 12 |
Ranking
ClinVar | |
---|---|
![]() |
0 |
![]() |
0 |
![]() |
4 |
![]() |
20 |
![]() |
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
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 |
---|---|
SYNONYM | PTP1B |
MIM | 176885 OMIM |
HGNC | HGNC:9642 HGNC |
Ensembl | ENSG00000196396 Ensembl |
AllianceGenome | HGNC:9642 |
Descrption | Source | Links |
---|
ID | Genome | Chromosome | Start | End | Length |
---|---|---|---|---|---|
ENST00000371621.5 | hg38 | chr20 | 50,510,383 | 50,585,241 | 74,859 |
ENST00000541713.5 | hg38 | chr20 | 50,510,321 | 50,584,760 | 74,440 |
ENST00000541713.5 | hg19 | chr20 | 49,126,858 | 49,201,297 | 74,440 |
ENST00000371621.5 | hg19 | chr20 | 49,126,920 | 49,201,778 | 74,859 |
Genome browser