PTPN22 protein tyrosine phosphatase non-receptor type 22

Information
Symbol
PTPN22
Type
protein-coding
Description
protein tyrosine phosphatase non-receptor type 22
Entrez Gene ID
26191
Genome
hg19
Position
chr1:114,356,433-114,414,334
Genome
hg38
Position
chr1:113,813,811-113,871,712
MIM
600716 OMIM
HGNC
HGNC:9652 HGNC
Ensembl
ENSG00000134242 Ensembl
Links
NCBI Gene Cards OncoKB
Clinical Significance
MGeND ClinVar
Benign 0 16
Likely benign 0 28
Conflicting classifications of pathogenicity 0 4
Uncertain significance 0 62
Ranking
ClinVar
0
0
8
90
4
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
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 :
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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
TypeID
SYNONYM LYP
SYNONYM LYP1
SYNONYM LYP2
SYNONYM PEP
SYNONYM PTPN22.5
SYNONYM PTPN22.6
SYNONYM PTPN8
MIM 600716 OMIM
HGNC HGNC:9652 HGNC
Ensembl ENSG00000134242 Ensembl
AllianceGenome HGNC:9652
DescrptionSourceLinks
IDGenomeChromosomeStartEndLength
ENST00000525799.1 hg38 chr1 113,819,526 113,871,712 52,187
ENST00000420377.6 hg38 chr1 113,819,299 113,871,712 52,414
ENST00000528414.5 hg38 chr1 113,813,815 113,871,698 57,884
ENST00000538253.5 hg38 chr1 113,813,812 113,871,753 57,942
ENST00000359785.10 hg38 chr1 113,813,811 113,871,712 57,902
ENST00000460620.5 hg38 chr1 113,813,811 113,871,712 57,902
ENST00000359785.10 hg19 chr1 114,356,433 114,414,334 57,902
ENST00000460620.5 hg19 chr1 114,356,433 114,414,334 57,902
ENST00000538253.5 hg19 chr1 114,356,434 114,414,375 57,942
ENST00000528414.5 hg19 chr1 114,356,437 114,414,320 57,884
ENST00000420377.6 hg19 chr1 114,361,921 114,414,334 52,414
ENST00000525799.1 hg19 chr1 114,362,148 114,414,334 52,187
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