AutismKB 2.0

Evidence Details for PTPRZ1


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Basic Information Top
Gene Symbol:PTPRZ1 ( HPTPZ,HPTPzeta,PTP-ZETA,PTP18,PTPRZ,PTPZ,RPTPB,RPTPbeta,phosphacan )
Gene Full Name: protein tyrosine phosphatase, receptor-type, Z polypeptide 1
Band: 7q31.32
Quick LinksEntrez ID:5803; OMIM: 176891; Uniprot ID:PTPRZ_HUMAN; ENSEMBL ID: ENSG00000106278; HGNC ID: 9685
Relate to Another Database: SFARIGene; denovo-db
Sequences Top
>PTPRZ1|5803|nucleotide
ATGCGAATCCTAAAGCGTTTCCTCGCTTGCATTCAGCTCCTCTGTGTTTGCCGCCTGGATTGGGCTAATGGATACTACAGACAACAGAGAAAACTTGTTGAAGAG
ATTGGCTGGTCCTATACAGGAGCACTGAATCAAAAAAATTGGGGAAAGAAATATCCAACATGTAATAGCCCAAAACAATCTCCTATCAATATTGATGAAGATCTT
ACACAAGTAAATGTGAATCTTAAGAAACTTAAATTTCAGGGTTGGGATAAAACATCATTGGAAAACACATTCATTCATAACACTGGGAAAACAGTGGAAATTAAT
CTCACTAATGACTACCGTGTCAGCGGAGGAGTTTCAGAAATGGTGTTTAAAGCAAGCAAGATAACTTTTCACTGGGGAAAATGCAATATGTCATCTGATGGATCA
GAGCATAGTTTAGAAGGACAAAAATTTCCACTTGAGATGCAAATCTACTGCTTTGATGCGGACCGATTTTCAAGTTTTGAGGAAGCAGTCAAAGGAAAAGGGAAG
TTAAGAGCTTTATCCATTTTGTTTGAGGTTGGGACAGAAGAAAATTTGGATTTCAAAGCGATTATTGATGGAGTCGAAAGTGTTAGTCGTTTTGGGAAGCAGGCT
GCTTTAGATCCATTCATACTGTTGAACCTTCTGCCAAACTCAACTGACAAGTATTACATTTACAATGGCTCATTGACATCTCCTCCCTGCACAGACACAGTTGAC
TGGATTGTTTTTAAAGATACAGTTAGCATCTCTGAAAGCCAGTTGGCTGTTTTTTGTGAAGTTCTTACAATGCAACAATCTGGTTATGTCATGCTGATGGACTAC
TTACAAAACAATTTTCGAGAGCAACAGTACAAGTTCTCTAGACAGGTGTTTTCCTCATACACTGGAAAGGAAGAGATTCATGAAGCAGTTTGTAGTTCAGAACCA
GAAAATGTTCAGGCTGACCCAGAGAATTATACCAGCCTTCTTGTTACATGGGAAAGACCTCGAGTCGTTTATGATACCATGATTGAGAAGTTTGCAGTTTTGTAC
CAGCAGTTGGATGGAGAGGACCAAACCAAGCATGAATTTTTGACAGATGGCTATCAAGACTTGGGTGCTATTCTCAATAATTTGCTACCCAATATGAGTTATGTT
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>PTPRZ1|5803|protein
MRILKRFLACIQLLCVCRLDWANGYYRQQRKLVEEIGWSYTGALNQKNWGKKYPTCNSPKQSPINIDEDLTQVNVNLKKLKFQGWDKTSLENTFIHNTGKTVEIN
LTNDYRVSGGVSEMVFKASKITFHWGKCNMSSDGSEHSLEGQKFPLEMQIYCFDADRFSSFEEAVKGKGKLRALSILFEVGTEENLDFKAIIDGVESVSRFGKQA
ALDPFILLNLLPNSTDKYYIYNGSLTSPPCTDTVDWIVFKDTVSISESQLAVFCEVLTMQQSGYVMLMDYLQNNFREQQYKFSRQVFSSYTGKEEIHEAVCSSEP
ENVQADPENYTSLLVTWERPRVVYDTMIEKFAVLYQQLDGEDQTKHEFLTDGYQDLGAILNNLLPNMSYVLQIVAICTNGLYGKYSDQLIVDMPTDNPELDLFPE
LIGTEEIIKEEEEGKDIEEGAIVNPGRDSATNQIRKKEPQISTTTHYNRIGTKYNEAKTNRSPTRGSEFSGKGDVPNTSLNSTSQPVTKLATEKDISLTSQTVTE
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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 (5) 1 (1) 0 (2) 1 (1) 0 (1) 0 (0) 0 (0) 0 (0) 3 (10)
Syndromic Autism Gene Top
Genome-Wide Association Studies(By Ethnic Group) Top
CNV Studies Top
Reference Source Method ADI-R ADOS Diagnosis Family Individual
Total Simplex Multiplex Control Affected Control Total
Marshall, 2008 - SNP microarrayASD 427 238 189 - 427 500 927
Christian, 2008 USA aCGHASD 397 35 362 - 397 372 769
Okamoto, 2011 Japan -ASD - - - - 1 - 1
Sanders, 2011 Simons Simplex Collection SNP microarray--ASD 1127 1127 - - - - -
Gai, 2011 AGRE SNP microarray--autism - - - - 1224 3801 5025
Linkage Studies Top