AutismKB 2.0

Evidence Details for PTPN23


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Basic Information Top
Gene Symbol:PTPN23 ( DKFZp564F0923,HD-PTP,HDPTP,KIAA1471,PTP-TD14 )
Gene Full Name: protein tyrosine phosphatase, non-receptor type 23
Band: 3p21.31
Quick LinksEntrez ID:25930; OMIM: 606584; Uniprot ID:PTN23_HUMAN; ENSEMBL ID: ENSG00000076201; HGNC ID: 14406
Relate to Another Database: SFARIGene; denovo-db
Sequences Top
>PTPN23|25930|nucleotide
ATGGAGGCCGTGCCCCGCATGCCCATGATCTGGCTGGACCTGAAGGAGGCCGGTGACTTTCACTTCCAGCCAGCTGTGAAGAAGTTTGTCCTGAAGAATTATGGA
GAGAACCCAGAAGCCTACAATGAAGAACTGAAGAAGCTGGAGTTGCTCAGACAGAATGCTGTCCGTGTCCCACGAGACTTTGAGGGCTGTAGTGTCCTCCGCAAG
TACCTCGGCCAGCTTCATTACCTGCAGAGTCGGGTCCCCATGGGCTCGGGCCAGGAGGCCGCTGTCCCTGTCACCTGGACAGAGATCTTCTCAGGCAAGTCTGTG
GCCCATGAGGACATCAAGTACGAGCAGGCCTGTATTCTCTACAACCTTGGAGCGCTGCACTCCATGCTGGGGGCCATGGACAAGCGGGTGTCTGAGGAGGGCATG
AAGGTCTCCTGTACCCATTTCCAGTGCGCAGCCGGCGCCTTCGCCTACCTACGGGAGCACTTCCCTCAAGCCTACAGCGTCGACATGAGCCGCCAGATCCTTACG
CTCAACGTCAACCTCATGCTGGGCCAGGCTCAGGAGTGCCTCCTGGAGAAGTCGATGTTGGACAACAGGAAGAGCTTTCTGGTGGCCCGCATCAGTGCACAGGTG
GTAGATTACTACAAGGAGGCATGCCGGGCCTTGGAGAACCCCGACACTGCCTCACTGCTGGGCCGGATCCAGAAGGACTGGAAGAAACTTGTGCAGATGAAGATC
TACTACTTCGCAGCCGTGGCTCATCTGCACATGGGAAAGCAGGCCGAGGAGCAGCAGAAGTTCGGGGAGCGGGTTGCATACTTCCAGAGCGCCCTGGACAAGCTC
AATGAAGCCATCAAGTTGGCCAAGGGCCAGCCTGACACTGTGCAAGACGCGCTTCGCTTCACTATGGATGTCATTGGGGGAAAGTACAATTCTGCCAAGAAGGAC
AACGACTTCATTTACCATGAGGCTGTCCCAGCATTGGACACTCTTCAGCCTGTAAAAGGAGCCCCCTTGGTGAAGCCCTTGCCAGTGAACCCCACAGACCCAGCT
GTTACAGGCCCTGACATCTTTGCCAAACTGGTACCCATGGCTGCCCACGAGGCCTCGTCACTGTACAGTGAGGAGAAGGCCAAGCTGCTCCGGGAGATGATGGCC
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>PTPN23|25930|protein
MEAVPRMPMIWLDLKEAGDFHFQPAVKKFVLKNYGENPEAYNEELKKLELLRQNAVRVPRDFEGCSVLRKYLGQLHYLQSRVPMGSGQEAAVPVTWTEIFSGKSV
AHEDIKYEQACILYNLGALHSMLGAMDKRVSEEGMKVSCTHFQCAAGAFAYLREHFPQAYSVDMSRQILTLNVNLMLGQAQECLLEKSMLDNRKSFLVARISAQV
VDYYKEACRALENPDTASLLGRIQKDWKKLVQMKIYYFAAVAHLHMGKQAEEQQKFGERVAYFQSALDKLNEAIKLAKGQPDTVQDALRFTMDVIGGKYNSAKKD
NDFIYHEAVPALDTLQPVKGAPLVKPLPVNPTDPAVTGPDIFAKLVPMAAHEASSLYSEEKAKLLREMMAKIEDKNEVLDQFMDSMQLDPETVDNLDAYSHIPPQ
LMEKCAALSVRPDTVRNLVQSMQVLSGVFTDVEASLKDIRDLLEEDELLEQKFQEAVGQAGAISITSKAELAEVRREWAKYMEVHEKASFTNSELHRAMNLHVGN
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Evidence summary Top

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Evidences Syndromic Gene GWAS CNV Linkage Association Expression NGS de novo NGS Mosaic NGS Other Low-Scale Gene Studies Total
Score (No. of Studies) No 0 (0) 0 (0) 0 (0) 0 (0) 0 (0) 0 (0) 0 (1) 0 (0) 0 (0) 0 (1)
Syndromic Autism Gene Top
Genome-Wide Association Studies(By Ethnic Group) Top
CNV Studies Top
Linkage Studies Top