AutismKB 2.0

Evidence Details for TP63


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Basic Information Top
Gene Symbol:TP63 ( AIS,B(p51A),B(p51B),EEC3,KET,LMS,NBP,OFC8,RHS,SHFM4,TP53CP,TP53L,TP73L,p40,p51,p53CP,p63,p73H,p73L )
Gene Full Name: tumor protein p63
Band: 3q28
Quick LinksEntrez ID:8626; OMIM: 603273; Uniprot ID:P63_HUMAN; ENSEMBL ID: ENSG00000073282; HGNC ID: 15979
Relate to Another Database: SFARIGene; denovo-db
Sequences Top
>TP63|8626|nucleotide
ATGAATTTTGAAACTTCACGGTGTGCCACCCTACAGTACTGCCCTGACCCTTACATCCAGCGTTTCGTAGAAACCCCAGCTCATTTCTCTTGGAAAGAAAGTTAT
TACCGATCCACCATGTCCCAGAGCACACAGACAAATGAATTCCTCAGTCCAGAGGTTTTCCAGCATATCTGGGATTTTCTGGAACAGCCTATATGTTCAGTTCAG
CCCATTGACTTGAACTTTGTGGATGAACCATCAGAAGATGGTGCGACAAACAAGATTGAGATTAGCATGGACTGTATCCGCATGCAGGACTCGGACCTGAGTGAC
CCCATGTGGCCACAGTACACGAACCTGGGGCTCCTGAACAGCATGGACCAGCAGATTCAGAACGGCTCCTCGTCCACCAGTCCCTATAACACAGACCACGCGCAG
AACAGCGTCACGGCGCCCTCGCCCTACGCACAGCCCAGCTCCACCTTCGATGCTCTCTCTCCATCACCCGCCATCCCCTCCAACACCGACTACCCAGGCCCGCAC
AGTTTCGACGTGTCCTTCCAGCAGTCGAGCACCGCCAAGTCGGCCACCTGGACGTATTCCACTGAACTGAAGAAACTCTACTGCCAAATTGCAAAGACATGCCCC
ATCCAGATCAAGGTGATGACCCCACCTCCTCAGGGAGCTGTTATCCGCGCCATGCCTGTCTACAAAAAAGCTGAGCACGTCACGGAGGTGGTGAAGCGGTGCCCC
AACCATGAGCTGAGCCGTGAATTCAACGAGGGACAGATTGCCCCTCCTAGTCATTTGATTCGAGTAGAGGGGAACAGCCATGCCCAGTATGTAGAAGATCCCATC
ACAGGAAGACAGAGTGTGCTGGTACCTTATGAGCCACCCCAGGTTGGCACTGAATTCACGACAGTCTTGTACAATTTCATGTGTAACAGCAGTTGTGTTGGAGGG
ATGAACCGCCGTCCAATTTTAATCATTGTTACTCTGGAAACCAGAGATGGGCAAGTCCTGGGCCGACGCTGCTTTGAGGCCCGGATCTGTGCTTGCCCAGGAAGA
GACAGGAAGGCGGATGAAGATAGCATCAGAAAGCAGCAAGTTTCGGACAGTACAAAGAACGGTGATGGTACGAAGCGCCCGTTTCGTCAGAACACACATGGTATC
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>TP63|8626|protein
MNFETSRCATLQYCPDPYIQRFVETPAHFSWKESYYRSTMSQSTQTNEFLSPEVFQHIWDFLEQPICSVQPIDLNFVDEPSEDGATNKIEISMDCIRMQDSDLSD
PMWPQYTNLGLLNSMDQQIQNGSSSTSPYNTDHAQNSVTAPSPYAQPSSTFDALSPSPAIPSNTDYPGPHSFDVSFQQSSTAKSATWTYSTELKKLYCQIAKTCP
IQIKVMTPPPQGAVIRAMPVYKKAEHVTEVVKRCPNHELSREFNEGQIAPPSHLIRVEGNSHAQYVEDPITGRQSVLVPYEPPQVGTEFTTVLYNFMCNSSCVGG
MNRRPILIIVTLETRDGQVLGRRCFEARICACPGRDRKADEDSIRKQQVSDSTKNGDGTKRPFRQNTHGIQMTSIKKRRSPDDELLYLPVRGRETYEMLLKIKES
LELMQYLPQHTIETYRQQQQQQHQHLLQKQTSIQSPSSYGNSSPPLNKMNSMNKLPSVSQLINPQQRNALTPTTIPDGMGANIPMMGTHMPMAGDMNGLSPTQAL
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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 (2) 0 (0) 0 (0) 0 (0) 0 (1) 0 (0) 0 (1) 0 (0) 0 (4)
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
Jacquemont, 2006 France aCGHASD - - - - 29 - 29
Bremer, 2011 - aCGHASD - - - - 223 - 223
Linkage Studies Top