AutismKB 2.0

Evidence Details for SPATA19


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Basic Information Top
Gene Symbol:SPATA19 ( CT132,FLJ25851,SPAS1,spergen1 )
Gene Full Name: spermatogenesis associated 19
Band: 11q25
Quick LinksEntrez ID:219938; OMIM: 609805; Uniprot ID:SPT19_HUMAN; ENSEMBL ID: ENSG00000166118; HGNC ID: 30614
Relate to Another Database: SFARIGene; denovo-db
Sequences Top
>SPATA19|219938|nucleotide
ATGATAATTACGACATGGATTGTGTATATTCTTGCTCGGAAAGGTGTAGGGCTTCCCTTCCTACCAATAACCAGTTCGGACATTGACGTTGTGGAAAGTGAGGCT
GTGTCTGTACTACATCATTGGTTGAAAAAAACAGAAGAAGAGGCTTCTCGGGGCATAAAGGAAAAGCTGTCCATCAACCACCCTTCCCAGGGTGTAAGGGAGAAG
ATGTCCACTGACTCCCCTCCCACCCATGGCCAGGACATCCACGTGACCAGAGATGTGGTGAAGCACCACCTCTCTAAGTCTGATTTGTTGGCAAACCAGAGCCAA
GAGGTCCTAGAGGAGAGAACACGAATCCAGTTCATAAGATGGAGCCACACTCGTATCTTCCAAGTGCCAAGTGAGATGACAGAGGACATCATGCGAGATCGAATA
GAGCAGGTGAGACGAAGCATATCCCGTCTTACAGATGTCTCAGCTCAGGACTTCAGTATGAGACCCTCCTCCTCAGACTGCTGA






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>SPATA19|219938|protein
MIITTWIVYILARKGVGLPFLPITSSDIDVVESEAVSVLHHWLKKTEEEASRGIKEKLSINHPSQGVREKMSTDSPPTHGQDIHVTRDVVKHHLSKSDLLANQSQ
EVLEERTRIQFIRWSHTRIFQVPSEMTEDIMRDRIEQVRRSISRLTDVSAQDFSMRPSSSDC



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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
Szatmari, 2007 Europe, North America SNP microarrayASD 1491 - - - - - 0
Zwaag, 2009 - SNP microarrayautism - - - - 105 267 372
Linkage Studies Top