AutismKB 2.0

Evidence Details for SGK223


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Basic Information Top
Gene Symbol:SGK223 ( DKFZp761P0423,PRAGMIN )
Gene Full Name: -
Band: 8p23.1
Quick LinksEntrez ID:157285; OMIM: NA; Uniprot ID:SG223_HUMAN; ENSEMBL ID: ENSG00000182319; HGNC ID:
Relate to Another Database: SFARIGene; denovo-db
Sequences Top
>SGK223|157285|nucleotide
ATGCACCAGACCCTCTGCCTGAACCCCGAGAGCCTGAAAATGTCTGCGTGCAGTGACTTTGTGGAGCACATCTGGAAACCCGGGTCCTGCAAGAACTGCTTCTGC
CTGCGGAGCGACCACCAGCTGGTGGCCGGCCCTCCCCAGCCCAGAGCGGGCAGCCTGCCCCCTCCACCGCGCCTGCCTCCCAGGCCTGAGAACTGCCGCCTGGAA
GATGAAGGTGTGAACAGCTCACCTTACTCCAAGCCCACAATTGCCGTGAAGCCCACCATGATGAGCTCCGAGGCCTCTGATGTGTGGACAGAGGCCAACCTGAGT
GCCGAAGTCTCGCAGGTCATCTGGAGACGAGCCCCTGGCAAGCTCCCCCTCCCGAAGCAGGAGGATGCCCCCGTCGTCTACCTGGGCAGCTTCCGAGGTGTACAG
AAGCCTGCTGGTCCCTCTACCTCCCCTGATGGCAATTCTCGCTGTCCCCCAGCTTACACCATGGTCGGCCTGCACAACCTTGAGCCCCGCGGCGAGAGGAACATT
GCCTTCCACCCGGTGAGCTTCCCGGAGGAGAAGGCTGTGCACAAAGAAAAACCCTCATTTCCTTACCAAGACCGGCCCTCCACCCAGGAGAGCTTCCGCCAGAAA
CTGGCTGCCTTTGCTGGGACCACATCTGGCTGTCACCAGGGCCCTGGGCCCCTGCGGGAATCCCTGCCCTCGGAGGATGACAGTGATCAAAGGTGCTCGCCCTCC
GGGGACAGCGAGGGTGGAGAGTACTGCTCCATCCTGGACTGCTGCCCTGGGAGCCCTGTTGCCAAGGCTGCCTCCCAGACTGCAGGTTCCCGGGGCAGGCATGGT
GGCAGGGACTGCTCACCCACGTGCTGGGAGCAGGGGAAGTGTTCCGGGCCCGCAGAGCAGGAGAAGCGGGGCCCGAGCTTCCCCAAGGAGTGCTGTAGCCAGGGC
CCCACTGCCCACCCATCCTGCCTGGGCCCCAAGAAACTGTCCCTCACCTCGGAGGCTGCCATTTCTTCCGACGGCCTCTCTTGTGGCAGCGGCAGCGGCAGCGGC
GCCAGTAGCCCCTTCGTCCCCCACCTCGAGAGTGATTACTGCTCCCTCATGAAGGAACCTGCCCCAGAGAAGCAGCAGGACCCTGGCTGCCCAGGGGTGACCCCT
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>SGK223|157285|protein
MHQTLCLNPESLKMSACSDFVEHIWKPGSCKNCFCLRSDHQLVAGPPQPRAGSLPPPPRLPPRPENCRLEDEGVNSSPYSKPTIAVKPTMMSSEASDVWTEANLS
AEVSQVIWRRAPGKLPLPKQEDAPVVYLGSFRGVQKPAGPSTSPDGNSRCPPAYTMVGLHNLEPRGERNIAFHPVSFPEEKAVHKEKPSFPYQDRPSTQESFRQK
LAAFAGTTSGCHQGPGPLRESLPSEDDSDQRCSPSGDSEGGEYCSILDCCPGSPVAKAASQTAGSRGRHGGRDCSPTCWEQGKCSGPAEQEKRGPSFPKECCSQG
PTAHPSCLGPKKLSLTSEAAISSDGLSCGSGSGSGASSPFVPHLESDYCSLMKEPAPEKQQDPGCPGVTPSRCLGLTGEPQPPAHPREATQPEPIYAESTKRKKA
APVPSKSQAKIEHAAAAQGQGQVCTGNAWAQKAASGWGRDSPDPTPQVSATITVMAAHPEEDHRTIYLSSPDSAVGVQWPRGPVSQNSEVGEEETSAGQGLSSRE
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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) 1 (2) 0 (0) 0 (0) 0 (0) 0 (0) 0 (0) 0 (1) 0 (0) 2 (3)
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
Wassink, 2001 USA Chromosomal analysis of G-bandautism - - - - 278 - 278
Papanikolaou, 2006 - FISHautism - - - - 1 - 1
Linkage Studies Top