AutismKB 2.0

Evidence Details for ANKS1A


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Basic Information Top
Gene Symbol:ANKS1A ( ANKS1,KIAA0229,MGC42354 )
Gene Full Name: ankyrin repeat and sterile alpha motif domain containing 1A
Band: 6p21.31
Quick LinksEntrez ID:23294; OMIM: 608994; Uniprot ID:ANS1A_HUMAN; ENSEMBL ID: ENSG00000064999; HGNC ID: 20961
Relate to Another Database: SFARIGene; denovo-db
Sequences Top
>ANKS1A|23294|nucleotide
ATGGGGAAGGAGCAGGAGCTGCTGGAGGCGGCCCGCACCGGGCACCTCCCGGCGGTGGAGAAGCTGCTGTCCGGGAAGCGGCTCTCCTCAGGCTTTGGGGGCGGC
GGCGGCGGTGGCTCTGGGGGCGGCGGCGGCGGCAGCGGCGGCGGCGGCGGCGGCCTCGGCTCTTCCAGCCACCCCCTCTCCAGTCTGCTCAGCATGTGGAGAGGG
CCAAATGTGAACTGTGTTGACAGCACTGGCTACACACCCCTGCACCATGCTGCTTTGAATGGCCATAAGGATGTGGTCGAGGTTCTTCTGAGGAACGATGCGCTG
ACCAACGTGGCTGACTCAAAAGGCTGCTACCCTCTGCATTTGGCAGCCTGGAAAGGAGATGCCCAGATAGTGCGGTTGCTCATCCATCAAGGGCCTTCACACACC
AGAGTCAATGAACAGAACAATGACAACGAGACAGCCCTGCATTGTGCAGCGCAGTATGGCCACACAGAGGTGGTGAAGGTGCTCTTAGAGGAGCTGACGGACCCC
ACCATGCGCAACAACAAATTCGAGACCCCTTTGGACCTGGCAGCACTGTACGGGCGACTGGAGGTGGTGAAAATGCTCCTTAATGCACACCCCAACCTCCTGAGC
TGCAACACTAAGAAGCACACCCCTCTGCACTTGGCAGCAAGGAATGGCCACAAAGCCGTGGTCCAGGTCCTCCTCGATGCTGGCATGGACAGCAACTACCAGACG
GAGATGGGCAGTGCTTTGCATGAGGCTGCTTTGTTTGGCAAGACCGATGTGGTGCAAATCCTGCTGGCTGCAGGAACTGACGTCAACATAAAAGATAACCATGGA
CTGACTGCCCTAGACACTGTTCGGGAACTGCCTTCTCAAAAGAGCCAGCAAATAGCAGCATTAATTGAAGATCACATGACTGGAAAAAGAAGTACAAAAGAAGTA
GATAAAACCCCCCCACCCCAGCCACCTCTCATCTCCAGTATGGACTCCATATCACAGAAGTCTCAGGGTGACGTGGAGAAAGCAGTGACTGAACTGATTATAGAT
TTTGATGCAAATGCTGAAGAAGAGGGTCCCTACGAAGCTCTGTATAATGCCATCTCCTGCCATTCGTTGGACAGCATGGCCAGCGGGCGATCATCTGACCAAGAC
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>ANKS1A|23294|protein
MGKEQELLEAARTGHLPAVEKLLSGKRLSSGFGGGGGGGSGGGGGGSGGGGGGLGSSSHPLSSLLSMWRGPNVNCVDSTGYTPLHHAALNGHKDVVEVLLRNDAL
TNVADSKGCYPLHLAAWKGDAQIVRLLIHQGPSHTRVNEQNNDNETALHCAAQYGHTEVVKVLLEELTDPTMRNNKFETPLDLAALYGRLEVVKMLLNAHPNLLS
CNTKKHTPLHLAARNGHKAVVQVLLDAGMDSNYQTEMGSALHEAALFGKTDVVQILLAAGTDVNIKDNHGLTALDTVRELPSQKSQQIAALIEDHMTGKRSTKEV
DKTPPPQPPLISSMDSISQKSQGDVEKAVTELIIDFDANAEEEGPYEALYNAISCHSLDSMASGRSSDQDSTNKEAEAAGVKPAGVRPRERPPPPAKPPPDEEEE
DHIDKKYFPLTASEVLSMRPRIHGSAAREEDEHPYELLLTAETKKVVLVDGKTKDHRRSSSSRSQDSAEGQDGQVPEQFSGLLHGSSPVCEVGQDPFQLLCTAGQ
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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 (2) 0 (0) 0 (0) 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
Berkel, 2010 Canada SNP microarrayASD - - - - 396 5023 5419
Linkage Studies Top