AutismKB 2.0

Evidence Details for PLEKHA7


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Basic Information Top
Gene Symbol:PLEKHA7 ( DKFZp686M22243 )
Gene Full Name: pleckstrin homology domain containing, family A member 7
Band: 11p15
Quick LinksEntrez ID:144100; OMIM: 612686; Uniprot ID:PKHA7_HUMAN; ENSEMBL ID: ENSG00000166689; HGNC ID: 27049
Relate to Another Database: SFARIGene; denovo-db
Sequences Top
>PLEKHA7|144100|nucleotide
ATGGCGGCGGCGACGGTCGGGCGGGACACTTTACCTGAGCATTGGTCCTACGGGGTGTGCCGGGATGGCCGCGTCTTCTTCATCAATGACCAGCTCCGCTGCACG
ACCTGGCTGCATCCGCGCACCGGGGAGCCCGTCAACTCGGGCCACATGATCCGCTCAGACCTGCCCCGCGGCTGGGAGGAGGGCTTCACGGAGGAGGGCGCCAGC
TACTTCATCGACCATAACCAGCAGACCACAGCATTCAGGCATCCTGTGACGGGACAGTTTTCTCCAGAAAATAGTGAATTCATTCTTCAAGAAGAGCCGAATCCA
CATATGTCGAAGCAAGACAGAAACCAAAGACCGTCCAGCATGGTCAGTGAAACATCCACGGCTGGGACCGCCTCCACCCTGGAGGCCAAGCCTGGACCCAAGATC
ATAAAGTCCAGCAGTAAAGTCCACAGCTTTGGGAAGAGAGACCAGGCCATTCGGAGGAACCCCAATGTTCCCGTGGTGGTGAGGGGCTGGCTGCACAAGCAGGAC
AGTTCTGGGATGAGGCTGTGGAAAAGGAGGTGGTTTGTGCTTGCTGATTACTGCTTATTTTACTATAAAGACAGCCGAGAAGAAGCGGTCCTCGGGAGCATCCCC
TTGCCCAGCTACGTGATCTCTCCTGTGGCCCCTGAGGATCGCATAAGCCGCAAATATTCCTTTAAGGCTGTGCACACGGGGATGCGAGCGCTCATCTATAACAGC
TCCACAGCGGGCTCTCAGGCCGAGCAGTCAGGCATGAGGACCTACTACTTCAGTGCCGACACCCAGGAGGACATGAACGCTTGGGTCAGGGCCATGAACCAGGCT
GCACAGGTGCTGTCTCGATCGTCACTGAAGAGGGATATGGAGAAGGTGGAGCGGCAGGCTGTCCCCCAGGCCAACCACACAGAGTCCTGTCACGAATGTGGCCGG
GTGGGACCCGGACATACGAGAGATTGTCCTCATCGTGGCCATGATGACATTGTCAACTTCGAGAGGCAGGAGCAGGAGGGAGAGCAGTACCGTTCCCAGAGGGAC
CCACTGGAGGGCAAGCGGGACCGGAGCAAGGCCAGGTCTCCGTACTCGCCAGCCGAGGAGGATGCCTTGTTTATGGATTTACCCACTGGCCCAAGAGGCCAGCAG
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>PLEKHA7|144100|protein
MAAATVGRDTLPEHWSYGVCRDGRVFFINDQLRCTTWLHPRTGEPVNSGHMIRSDLPRGWEEGFTEEGASYFIDHNQQTTAFRHPVTGQFSPENSEFILQEEPNP
HMSKQDRNQRPSSMVSETSTAGTASTLEAKPGPKIIKSSSKVHSFGKRDQAIRRNPNVPVVVRGWLHKQDSSGMRLWKRRWFVLADYCLFYYKDSREEAVLGSIP
LPSYVISPVAPEDRISRKYSFKAVHTGMRALIYNSSTAGSQAEQSGMRTYYFSADTQEDMNAWVRAMNQAAQVLSRSSLKRDMEKVERQAVPQANHTESCHECGR
VGPGHTRDCPHRGHDDIVNFERQEQEGEQYRSQRDPLEGKRDRSKARSPYSPAEEDALFMDLPTGPRGQQAQPQRAEKNGMLPASYGPGEQNGTGGYQRAFPPRT
NPEKHSQRKSNLAQVEHWARAQKGDSRSLPLDQTLPRQGPGQSLSFPENYQTLPKSTRHPSGGSSPPPRNLPSDYKYAQDRASHLKMSSEERRAHRDGTVWQLYE
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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 (1) 0 (0) 0 (0) 0 (0) 0 (1) 0 (0) 0 (0) 0 (0) 0 (2)
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
Pinto, 2010 - SNP microarray, qPCRASD - - - - 996 1287 2283
Linkage Studies Top