AutismKB 2.0

Evidence Details for ATP8A1


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Basic Information Top
Gene Symbol:ATP8A1 ( ATPASEII,ATPIA,ATPP2,MGC130042,MGC130043,MGC26327 )
Gene Full Name: ATPase, aminophospholipid transporter (APLT), class I, type 8A, member 1
Band: 4p13
Quick LinksEntrez ID:10396; OMIM: 609542; Uniprot ID:AT8A1_HUMAN; ENSEMBL ID: ENSG00000124406; HGNC ID: 13531
Relate to Another Database: SFARIGene; denovo-db
Sequences Top
>ATP8A1|10396|nucleotide
ATGCCCACCATGCGGAGGACCGTGTCGGAGATCCGCTCGCGCGCCGAAGGTTATGAGAAGACAGATGATGTTTCAGAGAAGACCTCACTGGCTGACCAGGAGGAA
GTAAGGACTATTTTCATCAACCAGCCCCAGCTGACAAAATTCTGCAATAACCATGTCAGCACTGCAAAATACAACATAATCACATTCCTTCCAAGATTTCTCTAC
TCTCAGTTCAGAAGAGCTGCTAATTCATTTTTTCTCTTTATTGCACTGCTGCAGCAAATACCTGATGTGTCACCAACAGGTCGTTATACAACACTGGTTCCTCTC
TTATTTATTTTAGCTGTGGCAGCTATCAAAGAGATAATAGAAGATATTAAACGACATAAAGCTGATAATGCAGTGAACAAGAAACAAACGCAAGTTTTGAGAAAT
GGTGCTTGGGAAATTGTCCACTGGGAAAAGGTAAATGTTGGAGATATAGTTATAATAAAAGGCAAAGAGTATATACCTGCTGACACTGTACTTCTCTCATCAAGT
GAGCCCCAAGCCATGTGCTACATTGAAACATCCAACTTAGATGGTGAAACAAACTTGAAAATTAGACAGGGCTTACCAGCAACATCAGATATCAAAGACGTTGAC
AGTTTGATGAGGATTTCTGGCAGAATTGAGTGTGAAAGTCCAAACAGACATCTCTACGATTTTGTTGGAAACATAAGGCTTGATGGACATGGCACCGTTCCACTG
GGAGCAGATCAGATTCTTCTTCGAGGAGCTCAGTTGAGAAATACACAGTGGGTTCATGGAATAGTTGTCTACACTGGACATGACACCAAGCTGATGCAGAATTCA
ACAAGTCCACCACTTAAGCTCTCAAATGTGGAACGGATTACAAATGTACAAATTTTGATTTTATTTTGTATCTTAATTGCCATGTCTCTTGTCTGTTCTGTGGGC
TCAGCCATTTGGAATCGAAGGCATTCTGGAAAAGACTGGTATCTCAATCTAAACTATGGTGGCGCTAGTAATTTTGGACTGAATTTCTTGACCTTCATCATCCTT
TTCAACAATCTCATTCCTATCAGCTTATTGGTTACATTAGAAGTTGTGAAATTTACCCAGGCATACTTCATAAATTGGGATCTTGACATGCACTATGAACCCACA
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>ATP8A1|10396|protein
MPTMRRTVSEIRSRAEGYEKTDDVSEKTSLADQEEVRTIFINQPQLTKFCNNHVSTAKYNIITFLPRFLYSQFRRAANSFFLFIALLQQIPDVSPTGRYTTLVPL
LFILAVAAIKEIIEDIKRHKADNAVNKKQTQVLRNGAWEIVHWEKVNVGDIVIIKGKEYIPADTVLLSSSEPQAMCYIETSNLDGETNLKIRQGLPATSDIKDVD
SLMRISGRIECESPNRHLYDFVGNIRLDGHGTVPLGADQILLRGAQLRNTQWVHGIVVYTGHDTKLMQNSTSPPLKLSNVERITNVQILILFCILIAMSLVCSVG
SAIWNRRHSGKDWYLNLNYGGASNFGLNFLTFIILFNNLIPISLLVTLEVVKFTQAYFINWDLDMHYEPTDTAAMARTSNLNEELGQVKYIFSDKTGTLTCNVMQ
FKKCTIAGVAYGQNSQFGDEKTFSDSSLLENLQNNHPTAPIICEFLTMMAVCHTAVPEREGDKIIYQAASPDEGALVRAAKQLNFVFTGRTPDSVIIDSLGQEER
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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) 0 (0) 0 (0) 0 (0) 0 (1) 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
Sabaratnam, 2000 - FISHautism - - - - 1 - 1
Linkage Studies Top