AutismKB 2.0

Evidence Details for SPATA22


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Basic Information Top
Gene Symbol:SPATA22 ( NYD-SP20,NYDSP20 )
Gene Full Name: spermatogenesis associated 22
Band: 17p13.3
Quick LinksEntrez ID:84690; OMIM: NA; Uniprot ID:SPT22_HUMAN; ENSEMBL ID: ENSG00000141255; HGNC ID: 30705
Relate to Another Database: SFARIGene; denovo-db
Sequences Top
>SPATA22|84690|nucleotide
ATGAAGCGAAGCCTAAATGAAAATTCAGCTCGAAGTACAGCAGGCTGTTTGCCTGTTCCGTTGTTCAATCAGAAAAAGAGGAACAGACAGCCATTAACTTCTAAT
CCACTTAAAGATGATTCAGGTATCAGTACCCCTTCTGACAATTATGATTTTCCTCCTCTACCTACAGATTGGGCCTGGGAAGCTGTGAATCCAGAGTTGGCTCCT
GTAATGAAAACAGTGGACACCGGGCAAATACCACATTCAGTTTCTCGTCCTCTGAGAAGTCAAGATTCTGTCTTTAACTCTATTCAATCAAATACTGGAAGAAGC
CAGGGTGGTTGGAGCTACAGAGATGGTAACAAAAATACCAGCTTGAAAACTTGGAATAAAAATGATTTTAAGCCTCAATGTAAACGAACAAACTTAGTGGCAAAT
GATGGAAAAAATTCTTGTCCAGTGAGTTCGGGAGCTCAACAACAAAAACAATTAAGAATACCTGAACCTCCTAACTTATCTCGCAACAAAGAAACCGAGCTACTC
AGACAAACACATTCATCAAAAATATCTGGCTGCACAATGAGAGGGCTAGACAAAAACAGTGCACTACAGACACTTAAGCCCAATTTTCAACAAAATCAATATAAG
AAACAAATGTTGGATGATATTCCAGAAGACAACACCCTGAAGGAAACCTCATTGTATCAGTTACAGTTTAAGGAAAAAGCTAGTTCTTTAAGAATTATTTCTGCA
GTTATTGAAAGCATGAAGTATTGGCGTGAACATGCACAGAAAACTGTACTTCTTTTTGAAGTATTAGCTGTTCTTGATTCAGCTGTTACACCTGGCCCATATTAT
TCGAAGACTTTTCTTATGAGGGATGGGAAAAATACTCTGCCTTGTGTCTTTTATGAAATCGATCGTGAACTTCCGAGACTGATTAGAGGCCGAGTTCATAGATGT
GTTGGCAACTATGACCAGAAAAAGAACATTTTCCAATGTGTTTCTGTCAGACCGGCGTCTGTTTCTGAACAAAAAACTTTCCAGGCATTTGTCAAAATTGCAGAT
GTTGAGATGCAGTATTATATTAATGTGATGAATGAAACTTAA
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>SPATA22|84690|protein
MKRSLNENSARSTAGCLPVPLFNQKKRNRQPLTSNPLKDDSGISTPSDNYDFPPLPTDWAWEAVNPELAPVMKTVDTGQIPHSVSRPLRSQDSVFNSIQSNTGRS
QGGWSYRDGNKNTSLKTWNKNDFKPQCKRTNLVANDGKNSCPVSSGAQQQKQLRIPEPPNLSRNKETELLRQTHSSKISGCTMRGLDKNSALQTLKPNFQQNQYK
KQMLDDIPEDNTLKETSLYQLQFKEKASSLRIISAVIESMKYWREHAQKTVLLFEVLAVLDSAVTPGPYYSKTFLMRDGKNTLPCVFYEIDRELPRLIRGRVHRC
VGNYDQKKNIFQCVSVRPASVSEQKTFQAFVKIADVEMQYYINVMNET

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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 (3) 0 (0) 0 (0) 0 (0) 0 (0) 0 (0) 0 (0) 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
Zwaag, 2009 - SNP microarrayautism - - - - 105 267 372
Pinto, 2010 - SNP microarray, qPCRASD - - - - 996 1287 2283
Gazzellone MJ, 2014 China -- - - - - 104 2108 2212
Linkage Studies Top