AutismKB 2.0

Evidence Details for PI4K2A


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Basic Information Top
Gene Symbol:PI4K2A ( DKFZp761G1923,PI4KII,PIK42A,RP11-548K23.6 )
Gene Full Name: phosphatidylinositol 4-kinase type 2 alpha
Band: 10q24.2
Quick LinksEntrez ID:55361; OMIM: 609763; Uniprot ID:P4K2A_HUMAN; ENSEMBL ID: ENSG00000155252,ENSG00000249967; HGNC ID: 30031
Relate to Another Database: SFARIGene; denovo-db
Sequences Top
>PI4K2A|55361|nucleotide
ATGGACGAGACGAGCCCACTAGTGTCCCCCGAGCGGGCCCAACCCCCGGACTACACCTTCCCGTCGGGCTCGGGCGCTCACTTTCCGCAGGTGCCCGGGGGCGCG
GTCCGAGTGGCGGCGGCGGCCGGCTCGGGCCCCTCTCCGCCAGGCTCGCCGGGCCACGACCGCGAGCGGCAGCCACTGTTGGATCGGGCCCGGGGCGCGGCGGCC
CAGGGCCAGACCCAAACCGTGGCGGCGCAGGCCCAGGCTCTGGCCGCTCAGGCCGCGGCGGCAGCCCACGCCGCTCAGGCCCACCGCGAGCGGAACGAGTTCCCG
GAGGATCCTGAGTTCGAGGCGGTGGTGCGGCAGGCCGAGCTGGCCATCGAGCGCTGCATCTTTCCCGAGCGCATCTACCAGGGCTCCAGCGGAAGCTACTTCGTC
AAGGACCCTCAGGGGAGGATCATTGCTGTCTTCAAACCCAAGAATGAAGAGCCCTATGGGCATCTTAATCCTAAGTGGACCAAGTGGCTGCAGAAGCTGTGCTGT
CCTTGCTGCTTTGGCCGTGACTGCCTTGTCCTTAACCAGGGCTATCTCTCAGAAGCAGGGGCCAGCCTGGTGGACCAAAAACTGGAACTCAACATTGTTCCCCGT
ACAAAGGTAGTATACCTGGCCAGTGAGACCTTCAACTATAGTGCCATTGACCGAGTGAAGTCCAGGGGCAAGCGGCTTGCACTAGAGAAAGTGCCAAAAGTTGGA
CAGCGGTTTAACCGCATCGGGCTACCACCAAAGGTTGGTTCATTCCAGCTCTTTGTTGAAGGCTACAAAGATGCAGACTATTGGCTGCGGCGTTTTGAAGCAGAA
CCTCTTCCTGAGAACACTAACCGGCAACTACTGCTCCAGTTTGAGCGGTTGGTGGTGCTGGATTACATCATCCGCAACACTGATCGAGGCAATGACAACTGGCTG
ATTAAATATGACTGTCCAATGGATAGTTCTAGCTCTCGGGACACAGACTGGGTGGTGGTGAAGGAGCCTGTTATCAAGGTGGCTGCCATAGACAATGGGCTGGCC
TTCCCACTGAAGCATCCTGACTCCTGGAGGGCATATCCTTTTTACTGGGCCTGGTTGCCCCAGGCGAAAGTCCCATTTTCTCAGGAGATCAAAGATCTGATCCTT
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>PI4K2A|55361|protein
MDETSPLVSPERAQPPDYTFPSGSGAHFPQVPGGAVRVAAAAGSGPSPPGSPGHDRERQPLLDRARGAAAQGQTQTVAAQAQALAAQAAAAAHAAQAHRERNEFP
EDPEFEAVVRQAELAIERCIFPERIYQGSSGSYFVKDPQGRIIAVFKPKNEEPYGHLNPKWTKWLQKLCCPCCFGRDCLVLNQGYLSEAGASLVDQKLELNIVPR
TKVVYLASETFNYSAIDRVKSRGKRLALEKVPKVGQRFNRIGLPPKVGSFQLFVEGYKDADYWLRRFEAEPLPENTNRQLLLQFERLVVLDYIIRNTDRGNDNWL
IKYDCPMDSSSSRDTDWVVVKEPVIKVAAIDNGLAFPLKHPDSWRAYPFYWAWLPQAKVPFSQEIKDLILPKISDPNFVKDLEEDLYELFKKDPGFDRGQFHKQI
AVMRGQILNLTQALKDNKSPLHLVQMPPVIVETARSHQRSSSESYTQSFQSRKPFFSWW
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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) 0 (0) 0 (0) 0 (0) 0 (0) 0 (0) 0 (0) 0 (0) (0)
Syndromic Autism Gene Top
Genome-Wide Association Studies(By Ethnic Group) Top
CNV Studies Top
Linkage Studies Top