AutismKB 2.0

Evidence Details for ATP8B4


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Basic Information Top
Gene Symbol:ATP8B4 ( ATPIM,FLJ25418 )
Gene Full Name: ATPase, class I, type 8B, member 4
Band: 15q21.2
Quick LinksEntrez ID:79895; OMIM: 609123; Uniprot ID:AT8B4_HUMAN; ENSEMBL ID: ENSG00000104043; HGNC ID: 13536
Relate to Another Database: SFARIGene; denovo-db
Sequences Top
>ATP8B4|79895|nucleotide
ATGTTCTGCAGTGAAAAGAAATTGCGTGAAGTGGAACGGATAGTGAAAGCCAATGACCGTGAATATAATGAAAAGTTCCAGTATGCGGATAATCGTATCCACACA
TCGAAATATAATATTCTCACCTTCTTGCCAATTAATTTATTTGAACAGTTCCAAAGAGTGGCAAATGCCTATTTTCTTTGCCTTCTGATTTTACAGCTAATTCCA
GAAATTTCCTCCTTGACCTGGTTTACCACCATTGTGCCTTTGGTCCTGGTGATAACTATGACAGCTGTCAAAGATGCCACAGATGACTATTTTCGCCACAAGAGT
GATAATCAAGTGAATAATCGGCAGTCTGAAGTGCTCATCAACAGCAAACTGCAGAATGAAAAATGGATGAATGTCAAAGTGGGAGACATCATTAAATTAGAAAAT
AACCAATTTGTTGCTGCTGATTTACTTCTCCTATCAAGTAGTGAGCCACATGGTCTCTGTTATGTTGAAACTGCTGAGCTTGATGGGGAAACGAACCTAAAAGTC
CGCCATGCACTATCAGTTACTTCAGAACTTGGAGCAGATATCAGCAGACTTGCAGGGTTTGATGGGATTGTTGTCTGTGAGGTGCCTAACAACAAGTTAGATAAA
TTCATGGGAATCCTTTCTTGGAAAGACAGCAAGCATTCCCTCAACAATGAGAAGATAATCCTGAGAGGCTGCATCCTGAGAAATACCAGCTGGTGTTTTGGAATG
GTTATTTTTGCAGGTCCTGACACTAAACTAATGCAGAATAGTGGTAAGACAAAGTTTAAAAGGACAAGCATTGATAGATTGATGAATACTCTAGTACTATGGATT
TTTGGGTTTCTGATATGCTTGGGAATTATTCTTGCAATAGGAAATTCAATCTGGGAGAGTCAAACTGGGGACCAATTCAGAACTTTCCTCTTTTGGAATGAAGGA
GAGAAGAGCTCTGTGTTCTCCGGATTCTTAACATTCTGGTCATATATTATTATTCTCAATACAGTTGTACCCATTTCCTTATATGTGAGTGTGGAAGTAATTCGT
CTAGGACACAGTTATTTTATAAACTGGGACCGGAAGATGTATTATTCTCGAAAAGCAATACCTGCAGTGGCTCGAACGACCACGCTCAATGAGGAACTGGGGCAG
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>ATP8B4|79895|protein
MFCSEKKLREVERIVKANDREYNEKFQYADNRIHTSKYNILTFLPINLFEQFQRVANAYFLCLLILQLIPEISSLTWFTTIVPLVLVITMTAVKDATDDYFRHKS
DNQVNNRQSEVLINSKLQNEKWMNVKVGDIIKLENNQFVAADLLLLSSSEPHGLCYVETAELDGETNLKVRHALSVTSELGADISRLAGFDGIVVCEVPNNKLDK
FMGILSWKDSKHSLNNEKIILRGCILRNTSWCFGMVIFAGPDTKLMQNSGKTKFKRTSIDRLMNTLVLWIFGFLICLGIILAIGNSIWESQTGDQFRTFLFWNEG
EKSSVFSGFLTFWSYIIILNTVVPISLYVSVEVIRLGHSYFINWDRKMYYSRKAIPAVARTTTLNEELGQIEYIFSDKTGTLTQNIMTFKRCSINGRIYGEVHDD
LDQKTEITQEKEPVDFSVKSQADREFQFFDHHLMESIKMGDPKVHEFLRLLALCHTVMSEENSAGELIYQVQSPDEGALVTAARNFGFIFKSRTPETITIEELGT
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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) 0 (0) 1 (1) 0 (0) 1 (1) 0 (0) 0 (0) 0 (0) 0 (0) 3 (2)
Syndromic Autism Gene Top
Genome-Wide Association Studies(By Ethnic Group) Top
CNV Studies Top
Linkage Studies Top