AutismKB 2.0

Evidence Details for GAGE12D


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Basic Information Top
Gene Symbol:GAGE12D ( GAGE-12B,GAGE12B,GAGE12C,GAGE12E )
Gene Full Name: G antigen 12D
Band: Xp11.23
Quick LinksEntrez ID:100132399; OMIM: 300728; Uniprot ID:GG12C_HUMAN; ENSEMBL ID: ENSG00000227488; HGNC ID: 31904
Relate to Another Database: SFARIGene; denovo-db
Sequences Top
>GAGE12D|100132399|nucleotide
ATGAGTTGGCGAGGAAGATCGACCTATTATTGGCCTAGACCAAGGCGCTATGTACAGCCTCCTGAAATGATTGGGCCTATGCGGCCCGAGCAGTTCAGTGATGAA
GTGGAACCAGCAACACCTGAAGAAGGGGAACCAGCAACTCAATGTCAGGATCCTGCAGCTGCTCAGGAGGGAGAGGATGAGGGAGCATCTGCAGGTCAAGGGCCG
AAGCCTGAAGCTCATAGCCAGGAACAGGGTCACCCACAGACTGGGTGTGAGTGTGAAGATGGTCCTGATGGGCAGGAGATGGACCCGCCAAATCCAGAGGAGGTG
AAAACGCCTGAAGAAGGTGAAAAGCAATCACAGTGTTAA







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>GAGE12D|100132399|protein
MSWRGRSTYYWPRPRRYVQPPEMIGPMRPEQFSDEVEPATPEEGEPATQCQDPAAAQEGEDEGASAGQGPKPEAHSQEQGHPQTGCECEDGPDGQEMDPPNPEEV
KTPEEGEKQSQC



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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 (5) 0 (0) 0 (0) 0 (0) 0 (0) 0 (0) 0 (0) 0 (0) 2 (5)
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
Marshall, 2008 - SNP microarrayASD 427 238 189 - 427 500 927
Edens, 2011 Honduras aCGHautism - - - - 1 - 1
Edens, 2011 Austria FISH, aCGHautism - - - - 1 - 1
Chung, 2011 - SNP microarrayASD - - - - 1 - 1
Sanders, 2011 Simons Simplex Collection SNP microarray--ASD 1127 1127 - - - - -
Edens, 2011 Honduras aCGHautism - - - - 1 - 1
Edens, 2011 Austria FISH, aCGHautism - - - - 1 - 1
Linkage Studies Top