AutismKB 2.0

Evidence Details for PLEKHA3


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Basic Information Top
Gene Symbol:PLEKHA3 ( FAPP1,FLJ20067 )
Gene Full Name: pleckstrin homology domain containing, family A (phosphoinositide binding specific) member 3
Band: 2q31.2
Quick LinksEntrez ID:65977; OMIM: 607774; Uniprot ID:PKHA3_HUMAN; ENSEMBL ID: ENSG00000116095; HGNC ID: 14338
Relate to Another Database: SFARIGene; denovo-db
Sequences Top
>PLEKHA3|65977|nucleotide
ATGGAGGGGGTGTTGTACAAGTGGACCAACTATCTCACAGGCTGGCAGCCTCGTTGGTTTGTTTTAGATAATGGAATCTTATCCTACTATGATTCACAAGATGAT
GTTTGCAAAGGGAGCAAAGGAAGCATAAAGATGGCAGTTTGTGAAATTAAAGTTCATTCAGCAGACAACACAAGAATGGAATTAATCATTCCTGGAGAGCAGCAT
TTCTACATGAAGGCAGTGAATGCAGCTGAAAGACAGAGGTGGCTGGTCGCTCTGGGGAGCTCCAAAGCATGTTTGACTGATACAAGGACTAAAAAAGAAAAAGAA
ATAAGTGAAACCAGTGAATCGCTGAAAACCAAAATGTCTGAACTTCGCCTCTACTGTGACCTCTTAATGCAGCAAGTTCATACAATACAGGAATTTGTTCACCAT
GATGAGAATCATTCATCTCCTAGTGCAGAGAACATGAATGAAGCCTCTTCTCTGCTTAGTGCCACGTGTAACACATTCATCACAACGCTTGAGGAATGTGTGAAG
ATAGCCAATGCCAAGTTTAAACCTGAGATGTTTCAACTGCACCATCCGGATCCCTTAGTTTCTCCTGTGTCACCTTCTCCTGTTCAAATGATGAAGCGTTCTGTC
AGCCACCCTGGTTCTTGCAGTTCAGAGAGGAGTAGCCACTCTATAAAAGAACCAGTATCTACACTTCACCGACTCTCCCAGCGACGCCGAAGAACCTACTCAGAT
ACAGATTCTTGTAGTGATATTCCTCTTGAAGACCCAGATAGACCTGTTCACTGTTCAAAAAATACACTTAATGGAGATTTGGCATCAGCAACCATTCCTGAAGAA
AGCAGACTTATGGCCAAAAAACAATCTGAATCAGAAGATACTCTTCCATCCTTCTCTTCCTGA


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>PLEKHA3|65977|protein
MEGVLYKWTNYLTGWQPRWFVLDNGILSYYDSQDDVCKGSKGSIKMAVCEIKVHSADNTRMELIIPGEQHFYMKAVNAAERQRWLVALGSSKACLTDTRTKKEKE
ISETSESLKTKMSELRLYCDLLMQQVHTIQEFVHHDENHSSPSAENMNEASSLLSATCNTFITTLEECVKIANAKFKPEMFQLHHPDPLVSPVSPSPVQMMKRSV
SHPGSCSSERSSHSIKEPVSTLHRLSQRRRRTYSDTDSCSDIPLEDPDRPVHCSKNTLNGDLASATIPEESRLMAKKQSESEDTLPSFSS


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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) 1 (1) 0 (0) 0 (0) 1 (1) 0 (0) 0 (0) 0 (0) 12 (2)
Syndromic Autism Gene Top
Genome-Wide Association Studies(By Ethnic Group) Top
CNV Studies Top
Linkage Studies Top