AutismKB 2.0

Evidence Details for SPAG11A


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Basic Information Top
Gene Symbol:SPAG11A ( EDDM2A,HE2 )
Gene Full Name: sperm associated antigen 11A
Band: 8p23.1
Quick LinksEntrez ID:653423; OMIM: NA; Uniprot ID:SG11A_HUMAN; ENSEMBL ID: ENSG00000178287; HGNC ID: 33342
Relate to Another Database: SFARIGene; denovo-db
Sequences Top
>SPAG11A|653423|nucleotide
ATGAGGCAACGATTGCTCCCGTCCGTCACCAGCCTTCTCCTTGTGGCCCTGCTGTTTCCAGGATCGTCTCAAGCCAGACATGTGAACCACTCAGCCACTGAGGCT
CTCGGAGAACTCAGGGAAAGAGCCCCTGGGCAAGGCACAAACGGGTTTCAGCTGCTACGCCACGCAGTGAAACGGGACCTCTTACCACCGCGCACCCCACCTTAC
CAAGGGGATGTTCCACTGGGAATTAGAAATACCATCTGCCGTATGCAGCAAGGGATCTGCAGACTTTTTTTCTGCCATTCTGGGACAGGCCAGCAGCACAGACAA
CGCTGTGGATAA







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>SPAG11A|653423|protein
MRQRLLPSVTSLLLVALLFPGSSQARHVNHSATEALGELRERAPGQGTNGFQLLRHAVKRDLLPPRTPPYQGDVPLGIRNTICRMQQGICRLFFCHSGTGQQHRQ
RCG



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Evidence summary Top

Click the link of the category-specific score to view different category of evidences. The categories without any evidences are hidden by default.
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 (0) 0 (0) 2 (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
Wassink, 2001 USA Chromosomal analysis of G-bandautism - - - - 278 - 278
Papanikolaou, 2006 - FISHautism - - - - 1 - 1
Linkage Studies Top