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MSeqDR Data Summary for the Term PTPN22:
Ensembl Gene IDAssociated Gene NameLSDB GenesLSDB VariantsclinVar hitsEnsembl Gene IDEnsembl Transcript IDEnsembl Protein IDDescriptionChrGene StartGene EndStrandBandTranscript Start bpTranscript End bpAssociated Gene NameAssociated Transcript NameAssociated Gene DBAssociated Transcript DBTranscript countpct GC contentGene BiotypeTranscript BiotypeSource GeneSource TranscriptStatus geneStatus transcript EntrezGene IDHGNC IDHGNC SymbolRefSeq mRNASeq region id
ENSG00000134242 MSeqDR Search EnsemblPTPN22000ENSG00000134242ENST00000460620ENSP00000433141protein tyrosine phosphatase, non-receptor type 22 (lymphoid) [Source:HGNC Symbol;Acc:9652]1114356433114414381-1p13.2114356433114414334PTPN22PTPN22-002HGNC SymbolHGNC transcript name1138.85protein_codingprotein_codingensembl_havaensembl_havaKNOWNPUTATIVE261919652PTPN2227511


MSeqDR Master Exome Data Set M1: 233 entries from same gene

No.ChrPositionReferenceVariantEnsemblTranscriptIDEnsemblGeneIDGene_StartGene_EndEnsemblProteinIDGenestrandUniprotcChangepChangeNaturedbSNPFreqEVSphastConsSIFTPolyphenHGMDtypesamples
11114356663AGENST00000359785ENSG00000134242114356433114414381ENSP00000352833PTPN22-1PTN22_HUMAN--3'_UTRrs38110210.17---- Rheumatoid arthritis, association with ?het176
21114356663AGENST00000359785ENSG00000134242114356433114414381ENSP00000352833PTPN22-1PTN22_HUMAN--3'_UTRrs38110210.17---- Rheumatoid arthritis, association with ?hom30
31114356663AGENST00000460620ENSG00000134242114356433114414381ENSP00000433141PTPN22-1PTN22_HUMAN--3'_UTRrs38110210.17---- Rheumatoid arthritis, association with ?het176
41114356663AGENST00000460620ENSG00000134242114356433114414381ENSP00000433141PTPN22-1PTN22_HUMAN--3'_UTRrs38110210.17---- Rheumatoid arthritis, association with ?hom30
51114356663AGENST00000528414ENSG00000134242114356433114414381ENSP00000435176PTPN22-1---3'_UTRrs38110210.17---- Rheumatoid arthritis, association with ?het176
61114356663AGENST00000528414ENSG00000134242114356433114414381ENSP00000435176PTPN22-1---3'_UTRrs38110210.17---- Rheumatoid arthritis, association with ?hom30
71114357211GAENST00000359785ENSG00000134242114356433114414381ENSP00000352833PTPN22-1PTN22_HUMAN--3'_UTRrs12174120.67191-----het224
81114357211GAENST00000359785ENSG00000134242114356433114414381ENSP00000352833PTPN22-1PTN22_HUMAN--3'_UTRrs12174120.67191-----hom374
91114357211GAENST00000460620ENSG00000134242114356433114414381ENSP00000433141PTPN22-1PTN22_HUMAN--3'_UTRrs12174120.67191-----het224
101114357211GAENST00000460620ENSG00000134242114356433114414381ENSP00000433141PTPN22-1PTN22_HUMAN--3'_UTRrs12174120.67191-----hom374
111114357211GAENST00000528414ENSG00000134242114356433114414381ENSP00000435176PTPN22-1---3'_UTRrs12174120.67191-----het224
121114357211GAENST00000528414ENSG00000134242114356433114414381ENSP00000435176PTPN22-1---3'_UTRrs12174120.67191-----hom374
131114361936GCENST00000420377ENSG00000134242114356433114414381ENSP00000388229PTPN22-1---3'_UTRrs170318880.03119-----het31
141114361936GCENST00000420377ENSG00000134242114356433114414381ENSP00000388229PTPN22-1---3'_UTRrs170318880.03119-----hom1
151114362038GAENST00000420377ENSG00000134242114356433114414381ENSP00000388229PTPN22-1---3'_UTRNA------het5
161114362118ATENST00000420377ENSG00000134242114356433114414381ENSP00000388229PTPN22-1---3'_UTRrs346391070.0321-----het27
171114362188AGENST00000359785ENSG00000134242114356433114414381ENSP00000352833PTPN22-1PTN22_HUMAN--+11bp 5'_splice_siters201875159-G=24/A=8574;G=3/A=4401;G=27/A=12975----het2
181114362188AGENST00000420377ENSG00000134242114356433114414381ENSP00000388229PTPN22-1-c.2370T>Cp.V790Vsynrs201875159-G=24/A=8574;G=3/A=4401;G=27/A=12975----het2
191114362188AGENST00000460620ENSG00000134242114356433114414381ENSP00000433141PTPN22-1PTN22_HUMAN--+11bp 5'_splice_siters201875159-G=24/A=8574;G=3/A=4401;G=27/A=12975----het2
201114362188AGENST00000469077ENSG00000134242114356433114414381-PTPN22-1---+11bp 5'_splice_siters201875159-G=24/A=8574;G=3/A=4401;G=27/A=12975----het2
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       Transcripts and variants in the surrounding PTPN22 1:114356433..114414381 region Gbrowse