AutismKB 2.0

Evidence Details for PIK3C2A


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Basic Information Top
Gene Symbol:PIK3C2A ( CPK,DKFZp686L193,MGC142218,PI3-K-C2(ALPHA),PI3-K-C2A )
Gene Full Name: phosphoinositide-3-kinase, class 2, alpha polypeptide
Band: 11p15.1
Quick LinksEntrez ID:5286; OMIM: 603601; Uniprot ID:P3C2A_HUMAN; ENSEMBL ID: ENSG00000011405; HGNC ID: 8971
Relate to Another Database: SFARIGene; denovo-db
Sequences Top
>PIK3C2A|5286|nucleotide
ATGGCTCAGATATCTAGCAACAGCGGATTTAAAGAATGTCCATCTTCACATCCGGAACCAACAAGAGCAAAAGATGTGGACAAAGAAGAAGCATTACAGATGGAA
GCAGAGGCTTTAGCAAAACTGCAAAAGGATAGACAAGTGACTGACAATCAGAGAGGCTTTGAGTTGTCAAGCAGCACCAGAAAAAAAGCACAGGTTTATAACAAG
CAGGATTATGATCTCATGGTGTTTCCTGAATCAGATTCCCAAAAAAGAGCATTAGATATTGATGTAGAAAAGCTCACCCAAGCTGAACTTGAGAAACTATTGCTG
GATGACAGTTTCGAGACTAAAAAAACACCTGTATTACCAGTTACTCCTATTCTGAGCCCTTCCTTTTCAGCACAGCTCTATTTTAGACCTACTATTCAGAGAGGA
CAGTGGCCACCTGGATTACCTGGGCCTTCCACTTATGCTTTACCTTCTATTTATCCTTCTACTTACAGTAAACAGGCTGCATTCCAAAATGGCTTCAATCCAAGA
ATGCCCACTTTTCCATCTACAGAACCTATATATTTAAGTCTTCCGGGACAATCTCCATATTTCTCATATCCTTTGACACCTGCCACACCCTTTCATCCACAAGGA
AGCTTACCTATCTATCGTCCAGTAGTCAGTACTGACATGGCAAAACTATTTGACAAAATAGCTAGTACATCAGAATTTTTAAAAAATGGGAAAGCAAGGACTGAT
TTGGAGATAACAGATTCAAAAGTCAGCAATCTACAGGTATCTCCAAAGTCTGAGGATATCAGTAAATTTGACTGGTTAGACTTGGATCCTCTAAGTAAGCCTAAG
GTGGATAATGTGGAGGTATTAGACCATGAGGAAGAGAAAAATGTTTCAAGTTTGCTAGCAAAGGATCCTTGGGATGCTGTTCTTCTTGAAGAGAGATCGACAGCA
AATTGTCATCTTGAAAGAAAGGTGAATGGAAAATCCCTTTCTGTGGCAACTGTTACAAGAAGCCAGTCTTTAAATATTCGAACAACTCAGCTTGCAAAAGCCCAG
GGCCATATATCTCAGAAAGACCCAAATGGGACCAGTAGTTTGCCAACTGGAAGTTCTCTTCTTCAAGAAGTTGAAGTACAGAATGAGGAGATGGCAGCTTTTTGT
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>PIK3C2A|5286|protein
MAQISSNSGFKECPSSHPEPTRAKDVDKEEALQMEAEALAKLQKDRQVTDNQRGFELSSSTRKKAQVYNKQDYDLMVFPESDSQKRALDIDVEKLTQAELEKLLL
DDSFETKKTPVLPVTPILSPSFSAQLYFRPTIQRGQWPPGLPGPSTYALPSIYPSTYSKQAAFQNGFNPRMPTFPSTEPIYLSLPGQSPYFSYPLTPATPFHPQG
SLPIYRPVVSTDMAKLFDKIASTSEFLKNGKARTDLEITDSKVSNLQVSPKSEDISKFDWLDLDPLSKPKVDNVEVLDHEEEKNVSSLLAKDPWDAVLLEERSTA
NCHLERKVNGKSLSVATVTRSQSLNIRTTQLAKAQGHISQKDPNGTSSLPTGSSLLQEVEVQNEEMAAFCRSITKLKTKFPYTNHRTNPGYLLSPVTAQRNICGE
NASVKVSIDIEGFQLPVTFTCDVSSTVEIIIMQALCWVHDDLNQVDVGSYVLKVCGQEEVLQNNHCLGSHEHIQNCRKWDTEIRLQLLTFSAMCQNLARTAEDDE
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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