AutismKB 2.0

Evidence Details for ATP10A


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Basic Information Top
Gene Symbol:ATP10A ( ATP10C,ATPVA,ATPVC,KIAA0566 )
Gene Full Name: ATPase, class V, type 10A
Band: 15q12
Quick LinksEntrez ID:57194; OMIM: 605855; Uniprot ID:AT10A_HUMAN; ENSEMBL ID: ENSG00000206190; HGNC ID: 13542
Relate to Another Database: SFARIGene; denovo-db
Sequences Top
>ATP10A|57194|nucleotide
ATGGAGCGGGAGCCGGCGGGGACCGAGGAGCCCGGGCCTCCGGGACGGCGGAGGCGCCGAGAGGGCAGGACGCGCACGGTGCGCTCCAACCTGCTGCCGCCCCCG
GGCGCCGAGGACCCTGCGGCTGGCGCGGCCAAGGGCGAGCGGCGACGGCGGCGCGGGTGTGCCCAGCACCTGGCCGACAACCGGCTCAAGACTACCAAGTACACG
CTGCTGTCCTTCCTGCCCAAGAACCTGTTCGAGCAGTTCCACCGCCCGGCCAACGTGTACTTTGTCTTCATCGCGCTGCTCAACTTCGTGCCGGCGGTGAACGCC
TTCCAGCCCGGCCTGGCACTGGCGCCGGTGCTCTTCATCCTGGCCATCACGGCCTTCAGGGACCTGTGGGAGGACTACAGCCGCCACCGCTCCGACCACAAGATC
AACCACCTGGGCTGCCTGGTCTTCAGCAGGGAAGAAAAGAAATACGTGAACCGATTCTGGAAAGAAATCCACGTGGGAGACTTTGTGCGTCTTCGCTGCAACGAA
ATCTTCCCTGCGGACATTCTGCTGCTCTCCTCCAGTGACCCCGACGGGCTATGCCACATCGAGACCGCCAACCTGGATGGAGAGACCAACCTGAAGCGGCGGCAG
GTGGTCCGCGGCTTCTCGGAGCTTGTCTCCGAATTCAATCCTTTGACGTTCACCAGCGTGATCGAATGCGAGAAGCCAAACAACGACCTGAGTAGGTTTCGCGGC
TGCATCATACATGACAACGGGAAAAAGGCCGGGCTGTATAAAGAAAACCTGCTGCTGAGGGGCTGCACCCTTAGGAACACGGACGCAGTCGTCGGCATTGTCATC
TACGCAGGACATGAAACCAAGGCTCTGCTGAACAACAGTGGGCCCCGCTACAAGCGCAGCAAGCTGGAGAGGCAGATGAACTGCGACGTGCTCTGGTGTGTCCTG
CTCCTTGTTTGCATGTCTCTGTTTTCAGCAGTCGGACATGGACTGTGGATATGGCGGTATCAAGAGAAGAAGTCATTATTTTATGTCCCCAAGTCTGATGGAAGC
TCCTTATCCCCAGTCACAGCTGCAGTTTACTCATTTTTAACAATGATAATAGTTCTGCAGGTTTTGATCCCAATTTCCTTATACGTTTCCATTGAAATTGTTAAA
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>ATP10A|57194|protein
MEREPAGTEEPGPPGRRRRREGRTRTVRSNLLPPPGAEDPAAGAAKGERRRRRGCAQHLADNRLKTTKYTLLSFLPKNLFEQFHRPANVYFVFIALLNFVPAVNA
FQPGLALAPVLFILAITAFRDLWEDYSRHRSDHKINHLGCLVFSREEKKYVNRFWKEIHVGDFVRLRCNEIFPADILLLSSSDPDGLCHIETANLDGETNLKRRQ
VVRGFSELVSEFNPLTFTSVIECEKPNNDLSRFRGCIIHDNGKKAGLYKENLLLRGCTLRNTDAVVGIVIYAGHETKALLNNSGPRYKRSKLERQMNCDVLWCVL
LLVCMSLFSAVGHGLWIWRYQEKKSLFYVPKSDGSSLSPVTAAVYSFLTMIIVLQVLIPISLYVSIEIVKACQVYFINQDMQLYDEETDSQLQCRALNITEDLGQ
IQYIFSDKTGTLTENKMVFRRCTVSGVEYSHDANAQRLARYQEADSEEEEVVPRGGSVSQRGSIGSHQSVRVVHRTQSTKSHRRTGSRAEAKRASMLSKHTAFSS
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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) 2 (20) 0 (0) 2 (4) 0 (0) 0 (1) 1 (1) 0 (0) 0 (0) 9 (26)
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
Wolpert, 2000 - STS mappingautism 3 - 3 - 3 - 3
Wassink, 2001 USA Chromosomal analysis of G-bandautism - - - - 278 - 278
Silva, 2002 - FISHautism - - - - 1 - 1
Keller, 2003 USA FISHASD - - - - 2 - 2
Mann, 2004 - STS mappingPDD-NOS - - - - 2 - 2
Sahoo, 2005 USA aCGHautism - - - - 9 - 9
Jacquemont, 2006 France aCGHASD - - - - 29 - 29
Kwasnicka-Crawford, 2007 - STS mappingautism - - - - 1 - 1
Sebat, 2007 USA aCGHautism 165 118 47 99 195 196 391
Wassink, 2007 USA FISHPDD - - - - 104 - 104
Szatmari, 2007 Europe, North America SNP microarrayASD 1491 - - - - - 0
Marshall, 2008 - SNP microarrayASD 427 238 189 - 427 500 927
Christian, 2008 USA aCGHASD 397 35 362 - 397 372 769
Weiss, 2008 USA, Ireland aCGH, SNP microarrayASD 751 - - - 2252 23502 25754
Bucan, 2009 USA SNP microarrayautism, ASD 912 - 912 - - 1488 1488
Gregory, 2009 USA aCGHASD - - - - 119 54 173
Bremer, 2009 - aCGHASD - - - - 148 - 148
Pinto, 2010 - SNP microarray, qPCRASD - - - - 996 1287 2283
Levy, 2011 Simons Simplex Collection aCGH--ASD 915 915 - - - - -
Sanders, 2011 Simons Simplex Collection SNP microarray--ASD 1127 1127 - - - - -
Linkage Studies Top