AutismKB 2.0

Evidence Details for SPATA5


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Basic Information Top
Gene Symbol:SPATA5 ( AFG2,SPAF )
Gene Full Name: spermatogenesis associated 5
Band: 4q28.1
Quick LinksEntrez ID:166378; OMIM: NA; Uniprot ID:SPAT5_HUMAN; ENSEMBL ID: ENSG00000145375; HGNC ID: 18119
Relate to Another Database: SFARIGene; denovo-db
Sequences Top
>SPATA5|166378|nucleotide
ATGTCTTCCAAGAAGAATAGAAAGCGGTTGAACCAAAGCGCGGAAAATGGTTCGTCCTTGCCCTCTGCTGCTTCCTCTTGTGCGGAGGCACGGGCTCCTTCTGCT
GGATCAGACTTCGCGGCAACCTCCGGGACTCTGACGGTGACCAACTTATTAGAAAAGGTAGATGACAAAATTCCTAAAACATTCCAGAATTCCCTTATTCATCTT
GGACTCAACACTATGAAGTCTGCAAATATATGTATAGGTCGACCAGTGTTGCTTACTAGTTTGAACGGAAAGCAAGAGGTGTATACAGCCTGGCCTATGGCAGGA
TTTCCTGGAGGCAAGGTCGGCCTGAGTGAAATGGCACAGAAAAATGTGGGTGTGAGGCCTGGTGATGCCATCCAGGTCCAGCCTCTTGTGGGTGCTGTGCTACAG
GCTGAGGAAATGGATGTGGCACTGAGTGACAAAGATATGGAAATTAATGAAGAAGAACTGACTGGTTGTATCCTGAGAAAACTAGATGGCAAGATTGTTTTACCA
GGCAACTTTCTGTATTGTACATTCTATGGACGACCGTACAAGCTGCAAGTATTGCGAGTGAAAGGGGCAGATGGCATGATATTGGGAGGGCCTCAGAGTGACTCT
GACACTGATGCCCAAAGAATGGCCTTTGAACAGTCCAGCATGGAAACCAGTAGCCTGGAGTTATCCTTACAGCTAAGCCAGTTAGATCTGGAGGATACCCAGATC
CCAACATCAAGAAGTACTCCTTATAAACCAATTGATGACAGAATTACAAATAAAGCCAGTGATGTTTTGCTGGATGTTACACAGAGCCCTGGAGATGGCAGTGGA
CTTATGCTAGAGGAAGTCACAGGTCTTAAATGTAATTTTGAATCTGCCAGAGAAGGAAATGAGCAACTTACTGAAGAAGAGAGACTGCTAAAGTTCAGCATAGGA
GCAAAGTGCAATACTGATACTTTTTATTTTATTTCTTCAACAACAAGAGTCAATTTTACAGAGATTGATAAAAATTCAAAAGAGCAAGACAACCAATTCAAAGTA
ACTTATGACATGATAGGAGGATTAAGTAGCCAGCTGAAAGCAATTAGAGAAATAATTGAATTGCCCCTCAAACAGCCTGAGCTTTTCAAGAGTTATGGAATTCCT
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>SPATA5|166378|protein
MSSKKNRKRLNQSAENGSSLPSAASSCAEARAPSAGSDFAATSGTLTVTNLLEKVDDKIPKTFQNSLIHLGLNTMKSANICIGRPVLLTSLNGKQEVYTAWPMAG
FPGGKVGLSEMAQKNVGVRPGDAIQVQPLVGAVLQAEEMDVALSDKDMEINEEELTGCILRKLDGKIVLPGNFLYCTFYGRPYKLQVLRVKGADGMILGGPQSDS
DTDAQRMAFEQSSMETSSLELSLQLSQLDLEDTQIPTSRSTPYKPIDDRITNKASDVLLDVTQSPGDGSGLMLEEVTGLKCNFESAREGNEQLTEEERLLKFSIG
AKCNTDTFYFISSTTRVNFTEIDKNSKEQDNQFKVTYDMIGGLSSQLKAIREIIELPLKQPELFKSYGIPAPRGVLLYGPPGTGKTMIARAVANEVGAYVSVING
PEIISKFYGETEAKLRQIFAEATLRHPSIIFIDELDALCPKREGAQNEVEKRVVASLLTLMDGIGSEVSEGQVLVLGATNRPHALDAALRRPGRFDKEIEIGVPN
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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 (1) 1 (1) 0 (0) 0 (0) 0 (1) 0 (0) 0 (0) 0 (0) 4 (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
Gazzellone MJ, 2014 China -- - - - - 104 2108 2212
Linkage Studies Top